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    Tytuł:
    Randomised controlled trial comparing the clinical and cost-effectiveness of various washout policies versus no washout policy in preventing catheter associated complications in adults living with long-term catheters: study protocol for the CATHETER II study.
    Autorzy:
    Abdel-Fattah M; Aberdeen Centre for Women's Health Research, University of Aberdeen, Aberdeen, UK. .
    Johnson D; Centre for Healthcare Randomised Trials, University of Aberdeen, Aberdeen, UK.
    Constable L; Centre for Healthcare Randomised Trials, University of Aberdeen, Aberdeen, UK.
    Thomas R; Centre for Healthcare Randomised Trials, University of Aberdeen, Aberdeen, UK.
    Cotton S; Centre for Healthcare Randomised Trials, University of Aberdeen, Aberdeen, UK.
    Tripathee S; Academic Urology Unit, University of Aberdeen, Aberdeen, UK.
    Cooper D; Health Services Research Unit, University of Aberdeen, Aberdeen, UK.
    Boran S; The Queen's Nursing Institute, London, UK.
    Dimitropoulos K; Academic Urology Unit, University of Aberdeen, Aberdeen, UK.
    Evans S; Bladder Health UK, Birmingham, UK.
    Granitsiotis P; Lothian Health Board, Edinburgh, UK.
    Hashim H; North Bristol NHS Trust, Bristol, UK.
    Kilonzo M; Health Economics Research Unit, Institute of Applied Health Sciences, University of Aberdeen, Aberdeen, UK.
    Larcombe J; JMed Limited, Sedgefield, UK.
    Little P; Primary Care Research Centre, University of Southampton, Southampton, UK.
    MacLennan S; Academic Urology Unit, University of Aberdeen, Aberdeen, UK.
    Murchie P; Academic Primary Care Research Group, University of Aberdeen, Aberdeen, UK.
    Myint PK; Ageing Clinical & Experimental Research Team, University of Aberdeen, Aberdeen, UK.
    N'Dow J; Academic Urology Unit, University of Aberdeen, Aberdeen, UK.
    Norrie J; Usher Institute, University of Edinburgh, Edinburgh, UK.
    Omar MI; Academic Urology Unit, University of Aberdeen, Aberdeen, UK.
    Paterson C; School of Nursing, Midwifery and Public Health, University of Canberra, Canberra, Australia.
    Scotland G; Health Economics Research Unit, Institute of Applied Health Sciences, University of Aberdeen, Aberdeen, UK.
    Thiruchelvam N; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
    MacLennan G; Centre for Healthcare Randomised Trials, University of Aberdeen, Aberdeen, UK.
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    Źródło:
    Trials [Trials] 2022 Aug 04; Vol. 23 (1), pp. 630. Date of Electronic Publication: 2022 Aug 04.
    Typ publikacji:
    Clinical Trial Protocol; Journal Article
    MeSH Terms:
    Catheter-Related Infections*/prevention & control
    Cost-Benefit Analysis*
    Urinary Catheterization*/adverse effects
    Urinary Tract Infections*/prevention & control
    Adult ; Catheters, Indwelling/adverse effects ; Citric Acid ; Female ; Humans ; Male ; Multicenter Studies as Topic ; Policy ; Quality of Life ; Randomized Controlled Trials as Topic
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Rough endoplasmic reticulum expansion: a consistent finding in a patient cohort with vascular Ehlers-Danlos Syndrome and Osteogenesis Imperfecta.
    Autorzy:
    Redman MG; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.
    Wagner BE; Histopathology Department, Royal Hallamshire Hospital, Sheffield, UK.
    Cadden S; Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital, Sheffield, UK.
    Baker D; Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital, Sheffield, UK.
    Bowen JM; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
    Johnson D; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
    Sobey G; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
    Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK.
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    Źródło:
    Ultrastructural pathology [Ultrastruct Pathol] 2021 Nov 02; Vol. 45 (6), pp. 414-420. Date of Electronic Publication: 2021 Sep 20.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Ehlers-Danlos Syndrome*/diagnosis
    Ehlers-Danlos Syndrome*/genetics
    Osteogenesis Imperfecta*/diagnosis
    Osteogenesis Imperfecta*/genetics
    Collagen Type III ; Endoplasmic Reticulum, Rough ; Humans ; Retrospective Studies
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Birth outcomes in women who have taken adalimumab in pregnancy: A prospective cohort study.
    Autorzy:
    Chambers CD; Department of Pediatrics, University of California San Diego, La Jolla, CA, United States of America.; Department of Family Medicine and Public Health, University of California San Diego, La Jolla, CA, United States of America.
    Johnson DL; Department of Pediatrics, University of California San Diego, La Jolla, CA, United States of America.
    Xu R; Department of Family Medicine and Public Health, University of California San Diego, La Jolla, CA, United States of America.; Department of Mathematics, University of California San Diego, La Jolla, CA, United States of America.
    Luo Y; Department of Pediatrics, University of California San Diego, La Jolla, CA, United States of America.
    Lopez-Jimenez J; Department of Pediatrics, University of California San Diego, La Jolla, CA, United States of America.
    Adam MP; Department of Pediatrics, University of Washington, Seattle, WA, United States of America.
    Braddock SR; Deparment of Pediatrics, Saint Louis University, St. Louis, MO, United States of America.
    Robinson LK; Department of Pediatrics, State University of New York at Buffalo, Buffalo, NY, United States of America.
    Vaux K; Department of Pediatrics, University of California San Diego, La Jolla, CA, United States of America.
    Lyons Jones K; Department of Pediatrics, University of California San Diego, La Jolla, CA, United States of America.
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    Corporate Authors:
    OTIS Collaborative Research Group
    Źródło:
    PloS one [PLoS One] 2019 Oct 18; Vol. 14 (10), pp. e0223603. Date of Electronic Publication: 2019 Oct 18 (Print Publication: 2019).
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Pregnancy Outcome*
    Adalimumab/*adverse effects
    Antirheumatic Agents/*adverse effects
    Maternal Exposure/*adverse effects
    Adalimumab/therapeutic use ; Adult ; Antirheumatic Agents/therapeutic use ; Congenital Abnormalities/epidemiology ; Congenital Abnormalities/etiology ; Female ; Humans ; Live Birth ; Middle Aged ; Odds Ratio ; Pregnancy ; Pregnancy Complications/drug therapy ; Pregnancy Complications/epidemiology ; Risk Factors ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Quantifying the contribution of recessive coding variation to developmental disorders.
    Autorzy:
    Martin HC; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK. .
    Jones WD; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.; Great Ormond Street Hospital for Children, National Health Service (NHS) Foundation Trust, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK.
    McIntyre R; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
    Sanchez-Andrade G; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
    Sanderson M; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
    Stephenson JD; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.; European Molecular Biology Laboratory-European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SD, UK.
    Jones CP; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
    Handsaker J; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
    Gallone G; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
    Bruntraeger M; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
    McRae JF; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
    Prigmore E; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
    Short P; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
    Niemi M; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
    Kaplanis J; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
    Radford EJ; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.; Department of Paediatrics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
    Akawi N; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
    Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, OPD2, Northern General Hospital, Herries Rd., Sheffield, S5 7AU, UK.
    Dean J; Department of Genetics, Aberdeen Royal Infirmary, Aberdeen, UK.
    Horton R; Wessex Clinical Genetics Service, G Level, Princess Anne Hospital, Coxford Road, Southampton SO16 5YA, UK.
    Hulbert A; Cheshire and Merseyside Clinical Genetic Service, Liverpool Women's NHS Foundation Trust, Crown Street, Liverpool L8 7SS, UK.
    Johnson DS; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, OPD2, Northern General Hospital, Herries Rd., Sheffield, S5 7AU, UK.
    Johnson K; Department of Clinical Genetics, City Hospital Campus, Hucknall Road, Nottingham NG5 1PB, UK.
    Kumar D; Institute of Cancer and Genetics, University Hospital of Wales, Cardiff, UK.
    Lynch SA; Temple Street Children's Hospital, Dublin, Ireland.
    Mehta SG; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
    Morton J; Clinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, Birmingham B15 2TG, UK.
    Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, UK.
    Splitt M; Northern Genetics Service, Newcastle upon Tyne Hospitals, NHS Foundation Trust, Newcastle upon Tyne, UK.
    Turnpenny PD; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
    Vasudevan PC; Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, Leicester LE1 5WW, UK.
    Wright M; Northern Genetics Service, Newcastle upon Tyne Hospitals, NHS Foundation Trust, Newcastle upon Tyne, UK.
    Bassett A; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
    Gerety SS; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
    Wright CF; University of Exeter Medical School, Institute of Biomedical and Clinical Science, Research, Innovation, Learning and Development (RILD), Royal Devon and Exeter Hospital, Barrack Road, Exeter, EX2 5DW, UK.
    FitzPatrick DR; Medical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.
    Firth HV; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
    Hurles ME; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
    Barrett JC; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK. .
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    Corporate Authors:
    Deciphering Developmental Disorders Study
    Źródło:
    Science (New York, N.Y.) [Science] 2018 Dec 07; Vol. 362 (6419), pp. 1161-1164. Date of Electronic Publication: 2018 Nov 08.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Genes, Recessive*
    Genetic Code*
    Genetic Variation*
    Penetrance*
    Developmental Disabilities/*genetics
    Animals ; Disease Models, Animal ; Eukaryotic Initiation Factor-3/genetics ; Europe ; Genome-Wide Association Study ; Humans ; Jumonji Domain-Containing Histone Demethylases/genetics ; Mice ; Nuclear Proteins/genetics ; Pakistan ; Phylogeny ; Repressor Proteins/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Retrotransposons Are the Major Contributors to the Expansion of the Drosophila ananassae Muller F Element.
    Autorzy:
    Leung W; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130 .
    Shaffer CD; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Chen EJ; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Quisenberry TJ; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Ko K; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Braverman JM; Department of Biology, Saint Joseph's University, Philadelphia, PA 19131.
    Giarla TC; Department of Biology, Siena College, Loudonville, NY 12211.
    Mortimer NT; School of Biological Sciences, Illinois State University, Normal, IL 61790.
    Reed LK; Department of Biological Sciences, University of Alabama, Tuscaloosa, AL 35401.
    Smith ST; Department of Biology, Arcadia University, Glenside, PA 19038.
    Robic S; Department of Biology, Agnes Scott College, Decatur, GA 30030.
    McCartha SR; Department of Biology, Agnes Scott College, Decatur, GA 30030.
    Perry DR; Department of Biology, Agnes Scott College, Decatur, GA 30030.
    Prescod LM; Department of Biology, Agnes Scott College, Decatur, GA 30030.
    Sheppard ZA; Department of Biology, Agnes Scott College, Decatur, GA 30030.
    Saville KJ; Department of Biology, Albion College, Albion, MI 49224.
    McClish A; Department of Biology, Albion College, Albion, MI 49224.
    Morlock EA; Department of Biology, Albion College, Albion, MI 49224.
    Sochor VR; Department of Biology, Albion College, Albion, MI 49224.
    Stanton B; Department of Biology, Albion College, Albion, MI 49224.
    Veysey-White IC; Department of Biology, Albion College, Albion, MI 49224.
    Revie D; Department of Biology, California Lutheran University, Thousand Oaks, CA 91360.
    Jimenez LA; Department of Biology, California Lutheran University, Thousand Oaks, CA 91360.
    Palomino JJ; Department of Biology, California Lutheran University, Thousand Oaks, CA 91360.
    Patao MD; Department of Biology, California Lutheran University, Thousand Oaks, CA 91360.
    Patao SM; Department of Biology, California Lutheran University, Thousand Oaks, CA 91360.
    Himelblau ET; Department of Biological Sciences, California Polytechnic State University, San Luis Obispo, CA 93405.
    Campbell JD; Department of Biological Sciences, California Polytechnic State University, San Luis Obispo, CA 93405.
    Hertz AL; Department of Biological Sciences, California Polytechnic State University, San Luis Obispo, CA 93405.
    McEvilly MF; Department of Biological Sciences, California Polytechnic State University, San Luis Obispo, CA 93405.
    Wagner AR; Department of Biological Sciences, California Polytechnic State University, San Luis Obispo, CA 93405.
    Youngblom J; Department of Biology, California State University, Stanislaus, Turlock, CA 95382.
    Bedi B; Department of Biology, California State University, Stanislaus, Turlock, CA 95382.
    Bettincourt J; Department of Biology, California State University, Stanislaus, Turlock, CA 95382.
    Duso E; Department of Biology, California State University, Stanislaus, Turlock, CA 95382.
    Her M; Department of Biology, California State University, Stanislaus, Turlock, CA 95382.
    Hilton W; Department of Biology, California State University, Stanislaus, Turlock, CA 95382.
    House S; Department of Biology, California State University, Stanislaus, Turlock, CA 95382.
    Karimi M; Department of Biology, California State University, Stanislaus, Turlock, CA 95382.
    Kumimoto K; Department of Biology, California State University, Stanislaus, Turlock, CA 95382.
    Lee R; Department of Biology, California State University, Stanislaus, Turlock, CA 95382.
    Lopez D; Department of Biology, California State University, Stanislaus, Turlock, CA 95382.
    Odisho G; Department of Biology, California State University, Stanislaus, Turlock, CA 95382.
    Prasad R; Department of Biology, California State University, Stanislaus, Turlock, CA 95382.
    Robbins HL; Department of Biology, California State University, Stanislaus, Turlock, CA 95382.
    Sandhu T; Department of Biology, California State University, Stanislaus, Turlock, CA 95382.
    Selfridge T; Department of Biology, California State University, Stanislaus, Turlock, CA 95382.
    Tsukashima K; Department of Biology, California State University, Stanislaus, Turlock, CA 95382.
    Yosif H; Department of Biology, California State University, Stanislaus, Turlock, CA 95382.
    Kokan NP; Department of Natural Sciences, Cardinal Stritch University, Milwaukee, WI 53217.
    Britt L; Department of Natural Sciences, Cardinal Stritch University, Milwaukee, WI 53217.
    Zoellner A; Department of Natural Sciences, Cardinal Stritch University, Milwaukee, WI 53217.
    Spana EP; Department of Biology, Duke University, Durham, NC 27708.
    Chlebina BT; Department of Biology, Duke University, Durham, NC 27708.
    Chong I; Department of Biology, Duke University, Durham, NC 27708.
    Friedman H; Department of Biology, Duke University, Durham, NC 27708.
    Mammo DA; Department of Biology, Duke University, Durham, NC 27708.
    Ng CL; Department of Biology, Duke University, Durham, NC 27708.
    Nikam VS; Department of Biology, Duke University, Durham, NC 27708.
    Schwartz NU; Department of Biology, Duke University, Durham, NC 27708.
    Xu TQ; Department of Biology, Duke University, Durham, NC 27708.
    Burg MG; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Batten SM; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Corbeill LM; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Enoch E; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Ensign JJ; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Franks ME; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Haiker B; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Ingles JA; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Kirkland LD; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Lorenz-Guertin JM; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Matthews J; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Mittig CM; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Monsma N; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Olson KJ; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Perez-Aragon G; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Ramic A; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Ramirez JR; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Scheiber C; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Schneider PA; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Schultz DE; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Simon M; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Spencer E; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Wernette AC; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Wykle ME; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Zavala-Arellano E; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    McDonald MJ; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Ostby K; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    Wendland P; Departments of Biomedical Sciences and Cell and Molecular Biology, Grand Valley State University, Allendale, MI 49401.
    DiAngelo JR; Department of Biology, Hofstra University, Hempstead, NY 11549.
    Ceasrine AM; Department of Biology, Hofstra University, Hempstead, NY 11549.
    Cox AH; Department of Biology, Hofstra University, Hempstead, NY 11549.
    Docherty JEB; Department of Biology, Hofstra University, Hempstead, NY 11549.
    Gingras RM; Department of Biology, Hofstra University, Hempstead, NY 11549.
    Grieb SM; Department of Biology, Hofstra University, Hempstead, NY 11549.
    Pavia MJ; Department of Biology, Hofstra University, Hempstead, NY 11549.
    Personius CL; Department of Biology, Hofstra University, Hempstead, NY 11549.
    Polak GL; Department of Biology, Hofstra University, Hempstead, NY 11549.
    Beach DL; Department of Biological and Environmental Sciences, Longwood University, Farmville, VA 23909.
    Cerritos HL; Department of Biological and Environmental Sciences, Longwood University, Farmville, VA 23909.
    Horansky EA; Department of Biological and Environmental Sciences, Longwood University, Farmville, VA 23909.
    Sharif KA; Department of Biology, Massasoit Community College, Brockton, MA 02302.
    Moran R; Department of Biology, Massasoit Community College, Brockton, MA 02302.
    Parrish S; Department of Biology, McDaniel College, Westminster, MD 21157.
    Bickford K; Department of Biology, McDaniel College, Westminster, MD 21157.
    Bland J; Department of Biology, McDaniel College, Westminster, MD 21157.
    Broussard J; Department of Biology, McDaniel College, Westminster, MD 21157.
    Campbell K; Department of Biology, McDaniel College, Westminster, MD 21157.
    Deibel KE; Department of Biology, McDaniel College, Westminster, MD 21157.
    Forka R; Department of Biology, McDaniel College, Westminster, MD 21157.
    Lemke MC; Department of Biology, McDaniel College, Westminster, MD 21157.
    Nelson MB; Department of Biology, McDaniel College, Westminster, MD 21157.
    O'Keeffe C; Department of Biology, McDaniel College, Westminster, MD 21157.
    Ramey SM; Department of Biology, McDaniel College, Westminster, MD 21157.
    Schmidt L; Department of Biology, McDaniel College, Westminster, MD 21157.
    Villegas P; Department of Biology, McDaniel College, Westminster, MD 21157.
    Jones CJ; Department of Biological Sciences, Moravian College, Bethlehem, PA 18018.
    Christ SL; Department of Biological Sciences, Moravian College, Bethlehem, PA 18018.
    Mamari S; Department of Biological Sciences, Moravian College, Bethlehem, PA 18018.
    Rinaldi AS; Department of Biological Sciences, Moravian College, Bethlehem, PA 18018.
    Stity G; Department of Biological Sciences, Moravian College, Bethlehem, PA 18018.
    Hark AT; Department of Biology, Muhlenberg College, Allentown, PA 18104.
    Scheuerman M; Department of Biology, Muhlenberg College, Allentown, PA 18104.
    Silver Key SC; Department of Biological & Biomedical Sciences, North Carolina Central University, Durham, NC 27707.
    McRae BD; Department of Biological & Biomedical Sciences, North Carolina Central University, Durham, NC 27707.
    Haberman AS; Department of Biology, Oberlin College, Oberlin, OH 44074.
    Asinof S; Department of Biology, Oberlin College, Oberlin, OH 44074.
    Carrington H; Department of Biology, Oberlin College, Oberlin, OH 44074.
    Drumm K; Department of Biology, Oberlin College, Oberlin, OH 44074.
    Embry T; Department of Biology, Oberlin College, Oberlin, OH 44074.
    McGuire R; Department of Biology, Oberlin College, Oberlin, OH 44074.
    Miller-Foreman D; Department of Biology, Oberlin College, Oberlin, OH 44074.
    Rosen S; Department of Biology, Oberlin College, Oberlin, OH 44074.
    Safa N; Department of Biology, Oberlin College, Oberlin, OH 44074.
    Schultz D; Department of Biology, Oberlin College, Oberlin, OH 44074.
    Segal M; Department of Biology, Oberlin College, Oberlin, OH 44074.
    Shevin Y; Department of Biology, Oberlin College, Oberlin, OH 44074.
    Svoronos P; Department of Biology, Oberlin College, Oberlin, OH 44074.
    Vuong T; Department of Biology, Oberlin College, Oberlin, OH 44074.
    Skuse G; Thomas H. Gosnell School of Life Sciences, Rochester Institute of Technology, Rochester, NY 14623.
    Paetkau DW; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Bridgman RK; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Brown CM; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Carroll AR; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Gifford FM; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Gillespie JB; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Herman SE; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Holtcamp KL; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Host MA; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Hussey G; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Kramer DM; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Lawrence JQ; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Martin MM; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Niemiec EN; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    O'Reilly AP; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Pahl OA; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Quintana G; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Rettie EAS; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Richardson TL; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Rodriguez AE; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Rodriguez MO; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Schiraldi L; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Smith JJ; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Sugrue KF; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Suriano LJ; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Takach KE; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Vasquez AM; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Velez X; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Villafuerte EJ; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Vives LT; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Zellmer VR; Department of Biology, Saint Mary's College, Notre Dame, IN 46556.
    Hauke J; Department of Biology, Simmons College, Boston, MA 02115.
    Hauser CR; Bioinformatics Program, St. Edward's University, Austin, TX 78704.
    Barker K; Bioinformatics Program, St. Edward's University, Austin, TX 78704.
    Cannon L; Bioinformatics Program, St. Edward's University, Austin, TX 78704.
    Parsamian P; Bioinformatics Program, St. Edward's University, Austin, TX 78704.
    Parsons S; Bioinformatics Program, St. Edward's University, Austin, TX 78704.
    Wichman Z; Bioinformatics Program, St. Edward's University, Austin, TX 78704.
    Bazinet CW; Department of Biological Sciences, St. John's University, Queens, NY 11439.
    Johnson DE; Department of Biological Sciences, The George Washington University, Washington, DC 20052.
    Bangura A; Department of Biological Sciences, The George Washington University, Washington, DC 20052.
    Black JA; Department of Biological Sciences, The George Washington University, Washington, DC 20052.
    Chevee V; Department of Biological Sciences, The George Washington University, Washington, DC 20052.
    Einsteen SA; Department of Biological Sciences, The George Washington University, Washington, DC 20052.
    Hilton SK; Department of Biological Sciences, The George Washington University, Washington, DC 20052.
    Kollmer M; Department of Biological Sciences, The George Washington University, Washington, DC 20052.
    Nadendla R; Department of Biological Sciences, The George Washington University, Washington, DC 20052.
    Stamm J; Department of Biology, University of Evansville, Evansville, IN 47722.
    Fafara-Thompson AE; Department of Biology, University of Evansville, Evansville, IN 47722.
    Gygi AM; Department of Biology, University of Evansville, Evansville, IN 47722.
    Ogawa EE; Department of Biology, University of Evansville, Evansville, IN 47722.
    Van Camp M; Department of Biology, University of Evansville, Evansville, IN 47722.
    Kocsisova Z; Department of Biology, University of Evansville, Evansville, IN 47722.
    Leatherman JL; Department of Biological Sciences, University of Northern Colorado, Greeley, CO 80639.
    Modahl CM; Department of Biological Sciences, University of Northern Colorado, Greeley, CO 80639.
    Rubin MR; Department of Biology, University of Puerto Rico at Cayey, Cayey, PR 00736.
    Apiz-Saab SS; Department of Biology, University of Puerto Rico at Cayey, Cayey, PR 00736.
    Arias-Mejias SM; Department of Biology, University of Puerto Rico at Cayey, Cayey, PR 00736.
    Carrion-Ortiz CF; Department of Biology, University of Puerto Rico at Cayey, Cayey, PR 00736.
    Claudio-Vazquez PN; Department of Biology, University of Puerto Rico at Cayey, Cayey, PR 00736.
    Espada-Green DM; Department of Biology, University of Puerto Rico at Cayey, Cayey, PR 00736.
    Feliciano-Camacho M; Department of Biology, University of Puerto Rico at Cayey, Cayey, PR 00736.
    Gonzalez-Bonilla KM; Department of Biology, University of Puerto Rico at Cayey, Cayey, PR 00736.
    Taboas-Arroyo M; Department of Biology, University of Puerto Rico at Cayey, Cayey, PR 00736.
    Vargas-Franco D; Department of Biology, University of Puerto Rico at Cayey, Cayey, PR 00736.
    Montañez-Gonzalez R; Department of Biology, University of Puerto Rico at Cayey, Cayey, PR 00736.
    Perez-Otero J; Department of Biology, University of Puerto Rico at Cayey, Cayey, PR 00736.
    Rivera-Burgos M; Department of Biology, University of Puerto Rico at Cayey, Cayey, PR 00736.
    Rivera-Rosario FJ; Department of Biology, University of Puerto Rico at Cayey, Cayey, PR 00736.
    Eisler HL; Department of Biology, University of the Cumberlands, Williamsburg, KY 40769.
    Alexander J; Department of Biology, University of the Cumberlands, Williamsburg, KY 40769.
    Begley SK; Department of Biology, University of the Cumberlands, Williamsburg, KY 40769.
    Gabbard D; Department of Biology, University of the Cumberlands, Williamsburg, KY 40769.
    Allen RJ; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Aung WY; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Barshop WD; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Boozalis A; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Chu VP; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Davis JS; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Duggal RN; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Franklin R; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Gavinski K; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Gebreyesus H; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Gong HZ; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Greenstein RA; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Guo AD; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Hanson C; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Homa KE; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Hsu SC; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Huang Y; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Huo L; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Jacobs S; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Jia S; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Jung KL; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Wai-Chee Kong S; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Kroll MR; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Lee BM; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Lee PF; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Levine KM; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Li AS; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Liu C; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Liu MM; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Lousararian AP; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Lowery PB; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Mallya AP; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Marcus JE; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Ng PC; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Nguyen HP; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Patel R; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Precht H; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Rastogi S; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Sarezky JM; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Schefkind A; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Schultz MB; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Shen D; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Skorupa T; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Spies NC; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Stancu G; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Vivian Tsang HM; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Turski AL; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Venkat R; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Waldman LE; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Wang K; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Wang T; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Wei JW; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Wu DY; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Xiong DD; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Yu J; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Zhou K; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    McNeil GP; Department of Biology, York College / CUNY, Jamaica, NY 11451.
    Fernandez RW; Department of Biology, York College / CUNY, Jamaica, NY 11451.
    Menzies PG; Department of Biology, York College / CUNY, Jamaica, NY 11451.
    Gu T; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
    Buhler J; Department of Computer Science and Engineering, Washington University in St. Louis, St. Louis, MO 63130.
    Mardis ER; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63108.
    Elgin SCR; Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.
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    Źródło:
    G3 (Bethesda, Md.) [G3 (Bethesda)] 2017 Aug 07; Vol. 7 (8), pp. 2439-2460. Date of Electronic Publication: 2017 Aug 07.
    Typ publikacji:
    Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
    MeSH Terms:
    Chromosomes/*genetics
    Drosophila/*genetics
    Retroelements/*genetics
    Animals ; Base Composition/genetics ; Base Sequence ; Codon/genetics ; Female ; Gene Expression Profiling ; Genes, Insect ; Histones/metabolism ; Protein Processing, Post-Translational/genetics ; Wolbachia/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    A mutation creating an upstream initiation codon in the SOX9 5' UTR causes acampomelic campomelic dysplasia.
    Autorzy:
    von Bohlen AE; Institute of Human GeneticsUniversity of FreiburgFreiburgGermany.; Present address: Klinik für AnästhesiologieOperative Intensivmedizin und SchmerztherapieUniklinikum Gießen und MarburgGießenGermany.
    Böhm J; Institute of Human GeneticsUniversity of FreiburgFreiburgGermany.; Present address: Department of Translational Medicine and NeurogeneticsIGBMCIllkirchFrance.
    Pop R; Institute of Human GeneticsUniversity of FreiburgFreiburgGermany.; Present address: Broad Institute of MIT and HarvardCambridgeMassachusetts02142USA.; Present address: Harvard Stem Cell InstituteCambridgeMassachusetts02138USA.; Present address: Department of Stem Cell and Regenerative BiologyHarvard UniversityCambridgeMassachusetts02138USA.
    Johnson DS; Institute of Medical GeneticsYorkhill NHS TrustGlasgowUK.; Present address: Clinical GeneticsSheffield Children's Hospital NHS Foundation TrustSheffieldUK.
    Tolmie J; Institute of Medical GeneticsYorkhill NHS TrustGlasgowUK.
    Stücker R; Childrens Hospital Hamburg-AltonaHamburgGermany.
    Morris-Rosendahl D; Institute of Human GeneticsUniversity of FreiburgFreiburgGermany.; Present address: Clinical Genetics and GenomicsRoyal Brompton and Harefield NHS Foundation Trust and National Heart and Lung InstituteImperial College LondonLondonUK.
    Scherer G; Institute of Human GeneticsUniversity of FreiburgFreiburgGermany.
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    Źródło:
    Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2017 Mar 21; Vol. 5 (3), pp. 261-268. Date of Electronic Publication: 2017 Mar 21 (Print Publication: 2017).
    Typ publikacji:
    Journal Article
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    An Eye on Trafficking Genes: Identification of Four Eye Color Mutations in Drosophila.
    Autorzy:
    Grant P; Department of Biological Sciences, The George Washington University, Washington, DC 20052.
    Maga T; Department of Biological Sciences, The George Washington University, Washington, DC 20052 Undergraduate Summer Research Program, Department of Biological Sciences, The George Washington University, Washington, DC 20052.
    Loshakov A; Department of Biological Sciences, The George Washington University, Washington, DC 20052.
    Singhal R; Department of Biological Sciences, The George Washington University, Washington, DC 20052.
    Wali A; Undergraduate Summer Research Program, Department of Biological Sciences, The George Washington University, Washington, DC 20052.
    Nwankwo J; Undergraduate Summer Research Program, Department of Biological Sciences, The George Washington University, Washington, DC 20052.
    Baron K; Department of Biological Sciences, The George Washington University, Washington, DC 20052.
    Johnson D; Department of Biological Sciences, The George Washington University, Washington, DC 20052 .
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    Źródło:
    G3 (Bethesda, Md.) [G3 (Bethesda)] 2016 Oct 13; Vol. 6 (10), pp. 3185-3196. Date of Electronic Publication: 2016 Oct 13.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Genetic Association Studies*
    Mutation*
    Drosophila/*genetics
    Drosophila Proteins/*genetics
    Eye Color/*genetics
    Alleles ; Amino Acid Sequence ; Animals ; Animals, Genetically Modified ; Chromosome Mapping ; Drosophila Proteins/chemistry ; Genes, X-Linked ; Phenotype
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Impact of maternal prenatal and parental postnatal stress on 1-year-old child development: results from the OTIS antidepressants in pregnancy study.
    Autorzy:
    Karam F; Faculty of Pharmacy, University of Montreal, Montreal, QC, Canada.; Research Center, CHU Sainte Justine, 3175, Côte-Sainte Catherine, Montreal, QC, Canada, H3T 1C5.
    Sheehy O; Research Center, CHU Sainte Justine, 3175, Côte-Sainte Catherine, Montreal, QC, Canada, H3T 1C5.
    Huneau MC; Research Center, CHU Sainte Justine, 3175, Côte-Sainte Catherine, Montreal, QC, Canada, H3T 1C5.
    Chambers C; Department of Paediatrics, University of California, San Diego, La Jolla, CA, USA.
    Fraser WD; Research Center, CHU Sainte Justine, 3175, Côte-Sainte Catherine, Montreal, QC, Canada, H3T 1C5.; Department of Obstetrics and Gynaecology, University of Montreal, Montreal, QC, Canada.
    Johnson D; California Teratogen Information Service, San Diego, CA, USA.
    Kao K; Department of Paediatrics, University of California, San Diego, La Jolla, CA, USA.
    Martin B; Centre IMAGe-Department of Pharmacy, CHU Sainte Justine, Montreal, QC, Canada.
    Riordan SH; College of Pharmacy, University of Arizona, Tucson, AZ, USA.
    Roth M; Pregnancy Risk Network-NYS Teratogen Information Service, Binghamton, NY, USA.
    St-André M; CHU Sainte Justine, Montreal, QC, Canada.; Department of Psychiatry, Université de Montréal, Montréal, QC, Canada.
    Lavigne SV; Connecticut Pregnancy Exposure Information Service, Division of Human Genetics, University of Connecticut Health Center, Farmington, CT, USA.
    Wolfe L; Texas Teratogen Information Service, University of North Texas, Denton, TX, USA.
    Bérard A; Faculty of Pharmacy, University of Montreal, Montreal, QC, Canada. .; Research Center, CHU Sainte Justine, 3175, Côte-Sainte Catherine, Montreal, QC, Canada, H3T 1C5. .
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    Źródło:
    Archives of women's mental health [Arch Womens Ment Health] 2016 Oct; Vol. 19 (5), pp. 835-43. Date of Electronic Publication: 2016 Mar 08.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Child Development*
    Postpartum Period*
    Antidepressive Agents/*therapeutic use
    Mothers/*psychology
    Stress, Psychological/*complications
    Adult ; Canada ; Female ; Humans ; Infant ; Pregnancy/psychology ; Surveys and Questionnaires
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Association of mutations in FLNA with craniosynostosis.
    Autorzy:
    Fennell N; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK.
    Foulds N; Wessex Clinical Genetics Services, UHS NHS Foundation Trust, Princess Anne Hospital, Southampton, UK.; Academic Unit of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
    Johnson DS; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.
    Wilson LC; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
    Wyatt M; Department of Paediatric Otolaryngology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
    Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, Dunedin, New Zealand.
    Johnson D; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK.
    Wall SA; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK.
    Wilkie AO; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK.; Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
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    Źródło:
    European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12), pp. 1684-8. Date of Electronic Publication: 2015 Apr 15.
    Typ publikacji:
    Case Reports; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mutation, Missense*
    Craniosynostoses/*genetics
    Filamins/*genetics
    Child ; Child, Preschool ; Craniosynostoses/diagnosis ; Diagnosis, Differential ; Female ; Humans ; Infant ; Male ; Phenotype
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases.
    Autorzy:
    Mora M; Muscle Cell Biology Lab, Neuromuscular Diseases and Neuroimmunolgy Unit, Fondazione Istituto Neurologico C. Besta, Milano, Italy.
    Angelini C; 1] IRCCS Fondazione San Camillo Hospital, Lido Venice, Italy [2] Department of Neurosciences, NPSRR University of Padova, Padova, Italy.
    Bignami F; GlaxoSmithKline, London, UK.
    Bodin AM; EURORDIS, European Organisation for Rare Diseases, Paris, France.
    Crimi M; Fondazione Telethon, Milan, Italy.
    Di Donato JH; 3 C-R, Castelginest, France.
    Felice A; Laboratory of Molecular Genetics and Malta BioBank, University of Malta, and Thalassaemia Clinic, Mater Dei Hospital, Msida, Malta.
    Jaeger C; Hôpital Foch, Suresnes, France.
    Karcagi V; Department of Molecular Genetics and Diagnostics, National Institute of Environmental Health, Budapest, Hungary.
    LeCam Y; EURORDIS, European Organisation for Rare Diseases, Paris, France.
    Lynn S; MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.
    Meznaric M; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
    Moggio M; Neuromuscular Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, University of Milan, Milan, Italy.
    Monaco L; Fondazione Telethon, Milan, Italy.
    Politano L; Division of Cardiomyology and Medical Genetics, Department of Experimental Medicine, Second University of Naples, Naples, Italy.
    de la Paz MP; Manuel Posada de la Paz, Institute of Rare Diseases Research, IIER, ISCIII and Spain RDR & CIBERER, Madrid, Spain.
    Saker S; GENETHON, DNA and Cell Bank, Evry, France.
    Schneiderat P; Muscle Tissue Culture Collection, Friedrich-Baur-Institute, Neurological Department, Ludwig-Maximilians-University of Munich, Munich, Germany.
    Ensini M; MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.
    Garavaglia B; Molecular Neurogenetics Unit, Fondazione Istituto Neurologico C. Besta, Milano, Italy.
    Gurwitz D; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
    Johnson D; Dubowitz Neuromuscular Centre, MRC Neuromuscular Centre at UCL Institute of Child Health, London, UK.
    Muntoni F; Dubowitz Neuromuscular Centre, MRC Neuromuscular Centre at UCL Institute of Child Health, London, UK.
    Puymirat J; Department of Human Genetics, Centre Hospitalier Universitaire de Quebec, Quebec City, Quebec, Canada.
    Reza M; MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.
    Voit T; Inserm U974-Institute of Myology, University Pierre and Marie Curie Paris 6, Paris, France.
    Baldo C; Laboratorio di Genetica Umana, E.O. Ospedali Galliera, Genova, Italy.
    Bricarelli FD; Dipartimento Ligure di Genetica, E.O. Ospedali Galliera, Genova, Italy.
    Goldwurm S; Parkinson Institute, Istituti Clinici di Perfezionamento, Milano, Italy.
    Merla G; Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy.
    Pegoraro E; Department of Neurosciences, NPSRR University of Padova, Padova, Italy.
    Renieri A; Division of Medical Genetics, University of Siena, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
    Zatloukal K; Institute of Pathology, Medical University of Graz, Graz, Austria.
    Filocamo M; Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G. Gaslini, Genova, Italy.
    Lochmüller H; MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.
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    Źródło:
    European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Sep; Vol. 23 (9), pp. 1116-23. Date of Electronic Publication: 2014 Dec 24.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Registries*
    Biological Specimen Banks/*organization & administration
    Rare Diseases/*genetics
    Computational Biology ; Europe ; Humans ; International Cooperation ; Quality Control ; Rare Diseases/diagnosis ; Rare Diseases/pathology ; Rare Diseases/therapy
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Further delineation of the KAT6B molecular and phenotypic spectrum.
    Autorzy:
    Gannon T; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.
    Perveen R; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.
    Schlecht H; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.
    Ramsden S; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.
    Anderson B; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.
    Kerr B; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.
    Day R; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.
    Banka S; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.
    Suri M; Department of Clinical Genetics, City Hospital, Nottingham, UK.
    Berland S; Centre for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
    Gabbett M; Genetic Health Queensland and University of Queensland. Royal Brisbane and Women's Hospital, PO Box Herston QLD, Australia.
    Ma A; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, Australia.
    Lyonnet S; Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR 1163, Imagine Institute, Hôpital Necker Enfants Malades, AP-HP, 24, boulevard de Montparnasse, Paris.
    Cormier-Daire V; Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR 1163, Imagine Institute, Hôpital Necker Enfants Malades, AP-HP, 24, boulevard de Montparnasse, Paris.
    Yilmaz R; Institute of Human Genetics, University of Ulm, Ulm, Germany.
    Borck G; Institute of Human Genetics, University of Ulm, Ulm, Germany.
    Wieczorek D; Institut fur Humangenetik, Universitätsklinikum Essen, Essen, Germany.
    Anderlid BM; Institute of Molecular Medicine and Surgery, Centre for Molecular Medicine, Karolinska Institut and Clinical Genetic Department, Karolinska University Hospital, Stockholm, Sweden.
    Smithson S; Clinical Genetics, University Hospitals, Bristol, UK.
    Vogt J; Clinical Genetics, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.
    Moore-Barton H; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, Australia.
    Simsek-Kiper PO; Clinical Genetics, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
    Maystadt I; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
    Destrée A; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
    Bucher J; Division of Genetics, Birth Defects and Metabolism, Children's Hospital of Chicago, Chicago, IL, USA.
    Angle B; Division of Genetics, Birth Defects and Metabolism, Children's Hospital of Chicago, Chicago, IL, USA.
    Mohammed S; Clinical Genetics, Guys Hospital, Great Maze Pond, London.
    Wakeling E; North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Harrow, UK.
    Price S; Clinical Genetics, Northampton General Hospital, Cliftonville, Northampton, England.
    Singer A; Paediatrics and Medical Genetics, Barzilai Medical Centre, Ashkelon, Israel.
    Sznajer Y; Center for Human Genetics, Clinique Universitaire St-Luc, Université Catholique de Louvain, Brussels, Belgium.
    Toutain A; Service de Génétique, Centre Hospitalier Universitaire, Tours, France.
    Haye D; Service de Génétique, Centre Hospitalier Universitaire, Tours, France.
    Newbury-Ecob R; Clinical Genetics, University Hospitals, Bristol, UK.
    Fradin M; Service de Génétique Medicale CHU Rennes, Université de Rennes, Rennes, France.
    McGaughran J; Genetic Health Queensland and University of Queensland. Royal Brisbane and Women's Hospital, PO Box Herston QLD, Australia.
    Tuysuz B; Department of Pediatric Genetics, Cerrahpaşa Medical School, Istanbul University, Istanbul, Turkey.
    Tein M; Clinical Genetics, Birmingham Women's Hospital, Birmingha, UK.
    Bouman K; Department of Genetics, University of Groningen, University Medical Centre, Groningen, The Netherlands.
    Dabir T; Medical Genetics, Belfast City Hospital, Belfast, Northern Ireland.
    Van den Ende J; Centre For Medical Genetics, Prins Boudewijnlaan 43, Edegem, Belgium.
    Luk HM; Clinical Genetic Service, Department of Health, Hong Kong, China.
    Pilz DT; Institute of Medical Genetics, University Hospital of Wales, Cardif, Wales.
    Eason J; Department of Clinical Genetics, City Hospital, Nottingham, UK.
    Davies S; Institute of Medical Genetics, University Hospital of Wales, Cardif, Wales.
    Reardon W; National Centre For Medical Genetics, Our Lady's Hospital For Sick Children, Dublin, Ireland.
    Garavelli L; Clinical Genetics Unit, Obstetric and Pediatric Department, Arcispedale S. Maria Nuova, Istitu di Ricovero e Cura a Carattere Scientifico, Reggio, Emilia, Italy.
    Zuffardi O; Institute of Human Genetics, University of Pavia, Pavia, Italy.
    Devriendt K; UZ Leuven, Campus Gasthuisberg, Leuven, Belgium.
    Armstrong R; East Anglian Medical Genetics Service, Addenbrookes Hospital, Cambridge, MA, USA.
    Johnson D; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.
    Doco-Fenzy M; Service de Génétique, HMB-CHU Reims, Reims, France.
    Bijlsma E; Leiden University Medical Centre, Leiden, The Netherlands.
    Unger S; Service de Génétique Médicale, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
    Veenstra-Knol HE; Department of Genetics, University of Groningen, University Medical Centre, Groningen, The Netherlands.
    Kohlhase J; Centre For Human Genetics, Freiburg, Germany.
    Lo IF; Clinical Genetic Service, Department of Health, Hong Kong, China.
    Smith J; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, Australia.
    Clayton-Smith J; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.
    Pokaż więcej
    Corporate Authors:
    DDD study
    Źródło:
    European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Sep; Vol. 23 (9), pp. 1165-70. Date of Electronic Publication: 2014 Nov 26.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Exons*
    Mutation*
    Blepharophimosis/*genetics
    Congenital Hypothyroidism/*genetics
    Craniofacial Abnormalities/*genetics
    Heart Defects, Congenital/*genetics
    Histone Acetyltransferases/*genetics
    Intellectual Disability/*genetics
    Joint Instability/*genetics
    Kidney/*abnormalities
    Patella/*abnormalities
    Psychomotor Disorders/*genetics
    Scrotum/*abnormalities
    Urogenital Abnormalities/*genetics
    Blepharophimosis/diagnosis ; Blepharophimosis/pathology ; Child, Preschool ; Congenital Hypothyroidism/diagnosis ; Congenital Hypothyroidism/pathology ; Craniofacial Abnormalities/diagnosis ; Craniofacial Abnormalities/pathology ; DNA Mutational Analysis ; Diagnosis, Differential ; Exome ; Facies ; Female ; Gene Expression ; Genetic Association Studies ; Genotype ; Heart Defects, Congenital/diagnosis ; Heart Defects, Congenital/pathology ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/pathology ; Joint Instability/diagnosis ; Joint Instability/pathology ; Kidney/pathology ; Male ; Patella/pathology ; Phenotype ; Psychomotor Disorders/diagnosis ; Psychomotor Disorders/pathology ; Scrotum/pathology ; Severity of Illness Index ; Urogenital Abnormalities/diagnosis ; Urogenital Abnormalities/pathology
    SCR Disease Name:
    Genitopatellar Syndrome; Young Simpson syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    The dynamic proliferation of CanSINEs mirrors the complex evolution of Feliforms.
    Autorzy:
    Walters-Conte KB; Department of Biology, American University, 101 Hurst Hall 4440 Massachusetts Ave, Washington, DC 20016, USA. .
    Johnson DL
    Johnson WE
    O'Brien SJ
    Pecon-Slattery J
    Pokaż więcej
    Źródło:
    BMC evolutionary biology [BMC Evol Biol] 2014 Jun 20; Vol. 14, pp. 137. Date of Electronic Publication: 2014 Jun 20.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
    MeSH Terms:
    Short Interspersed Nucleotide Elements*
    Carnivora/*genetics
    Cats/*genetics
    Animals ; Cats/classification ; Felidae/genetics ; Genome ; Phylogeny
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
    Autorzy:
    Czeschik JC; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr, 55, 45122, Essen, Germany. .
    Bauer P
    Buiting K
    Dufke C
    Guillén-Navarro E
    Johnson DS
    Koehler U
    López-González V
    Lüdecke HJ
    Male A
    Morrogh D
    Rieß A
    Tzschach A
    Wieczorek D
    Kuechler A
    Pokaż więcej
    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2013 Sep 21; Vol. 8, pp. 146. Date of Electronic Publication: 2013 Sep 21.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mental Retardation, X-Linked/*genetics
    Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Mental Retardation, X-Linked/diagnosis ; Mutation, Missense/genetics ; Real-Time Polymerase Chain Reaction ; Ubiquitin-Conjugating Enzymes/genetics ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
    Autorzy:
    de Munnik SA; Department of Human Genetics 836, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
    Bicknell LS
    Aftimos S
    Al-Aama JY
    van Bever Y
    Bober MB
    Clayton-Smith J
    Edrees AY
    Feingold M
    Fryer A
    van Hagen JM
    Hennekam RC
    Jansweijer MC
    Johnson D
    Kant SG
    Opitz JM
    Ramadevi AR
    Reardon W
    Ross A
    Sarda P
    Schrander-Stumpel CT
    Schoots J
    Temple IK
    Terhal PA
    Toutain A
    Wise CA
    Wright M
    Skidmore DL
    Samuels ME
    Hoefsloot LH
    Knoers NV
    Brunner HG
    Jackson AP
    Bongers EM
    Pokaż więcej
    Źródło:
    European journal of human genetics : EJHG [Eur J Hum Genet] 2012 Jun; Vol. 20 (6), pp. 598-606. Date of Electronic Publication: 2012 Feb 15.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mutation*
    Growth Disorders/*diagnosis
    Growth Disorders/*genetics
    Micrognathism/*diagnosis
    Micrognathism/*genetics
    Origin Recognition Complex/*genetics
    Adolescent ; Adult ; Cell Cycle Proteins/genetics ; Child ; Child, Preschool ; Congenital Microtia ; Ear/abnormalities ; Female ; Genetic Association Studies ; Growth Disorders/metabolism ; Humans ; Infant ; Male ; Micrognathism/metabolism ; Middle Aged ; Patella/abnormalities ; Patella/metabolism
    SCR Disease Name:
    Meier-Gorlin syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.
    Autorzy:
    Bicknell LS; Medical Research Council (MRC) Human Genetics Unit (HGU), Institute for Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK.
    Walker S
    Klingseisen A
    Stiff T
    Leitch A
    Kerzendorfer C
    Martin CA
    Yeyati P
    Al Sanna N
    Bober M
    Johnson D
    Wise C
    Jackson AP
    O'Driscoll M
    Jeggo PA
    Pokaż więcej
    Źródło:
    Nature genetics [Nat Genet] 2011 Feb 27; Vol. 43 (4), pp. 350-5. Date of Electronic Publication: 2011 Feb 27.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mutation, Missense*
    Dwarfism/*genetics
    Microcephaly/*genetics
    Origin Recognition Complex/*genetics
    Adolescent ; Amino Acid Sequence ; Amino Acid Substitution ; Animals ; Base Sequence ; Child ; Child, Preschool ; Congenital Microtia ; Consanguinity ; DNA/genetics ; Ear/abnormalities ; Female ; Genome-Wide Association Study ; Growth Disorders/genetics ; Humans ; Infant ; Male ; Micrognathism/genetics ; Models, Genetic ; Models, Molecular ; Molecular Sequence Data ; Mutant Proteins/chemistry ; Mutant Proteins/genetics ; Origin Recognition Complex/chemistry ; Origin Recognition Complex/deficiency ; Patella/abnormalities ; Pedigree ; Polymorphism, Single Nucleotide ; Protein Structure, Tertiary ; S Phase/genetics ; Saudi Arabia ; Sequence Homology, Amino Acid ; Zebrafish/embryology ; Zebrafish/genetics ; Zebrafish Proteins/deficiency ; Zebrafish Proteins/genetics
    SCR Disease Name:
    Meier-Gorlin syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-15 z 15

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