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Wyszukujesz frazę ""Chromosome Disorders"" wg kryterium: Temat


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Tytuł :
[Application analysis of noninvasive prenatal testing for fetal chromosome copy number variations in Chinese laboratories].
Autorzy :
Shi JP; Peking University Fifth School of Clinical Medicine, National Center for Clinical Laboratories, Beijing Hospital, National Center of Gerontology; Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing 100730, China.
Tan P; National Center for Clinical Laboratories, Beijing Hospital, National Center of Gerontology; Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing 100730, China.
Li JM; Peking University Fifth School of Clinical Medicine, National Center for Clinical Laboratories, Beijing Hospital, National Center of Gerontology; Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing 100730, China.
Zhang R; Peking University Fifth School of Clinical Medicine, National Center for Clinical Laboratories, Beijing Hospital, National Center of Gerontology; Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing 100730, China.
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Źródło :
Zhonghua yi xue za zhi [Zhonghua Yi Xue Za Zhi] 2021 Apr 20; Vol. 101 (15), pp. 1088-1092.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Disorders*/diagnosis
Chromosome Disorders*/genetics
Noninvasive Prenatal Testing*
China ; DNA Copy Number Variations ; Female ; Humans ; Laboratories ; Pregnancy ; Prenatal Diagnosis
Czasopismo naukowe
Tytuł :
Diagnostic accuracy and value of chromosomal microarray analysis for chromosomal abnormalities in prenatal detection: A prospective clinical study.
Autorzy :
Huang H; Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian Province, China.
Wang Y
Zhang M
Lin N
An G
He D
Chen M
Chen L
Xu L
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Źródło :
Medicine [Medicine (Baltimore)] 2021 May 21; Vol. 100 (20), pp. e25999.
Typ publikacji :
Journal Article; Observational Study
MeSH Terms :
Chromosome Disorders/*diagnosis
Genetic Testing/*methods
Karyotyping/*statistics & numerical data
Microarray Analysis/*statistics & numerical data
Prenatal Diagnosis/*methods
Adult ; China ; Chromosome Disorders/genetics ; Chromosomes, Human/genetics ; Female ; Genetic Testing/statistics & numerical data ; Gestational Age ; Humans ; Pregnancy ; Prenatal Diagnosis/statistics & numerical data ; Prospective Studies ; ROC Curve ; Retrospective Studies ; Young Adult
Czasopismo naukowe
Tytuł :
The genotype and phenotype of chromosome 18p deletion syndrome: Case series.
Autorzy :
Jin Q; Center of Medical Genetics, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, PR China.
Qiang R
Cai B
Wang X
Cai N
Zhen S
Zhai W
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Źródło :
Medicine [Medicine (Baltimore)] 2021 May 07; Vol. 100 (18), pp. e25777.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Abnormal Karyotype*
Chromosome Disorders/*diagnosis
Chromosomes, Human, Pair 18/*genetics
Fetus/*abnormalities
Hydronephrosis/*diagnosis
Adult ; Chromosome Deletion ; Chromosome Disorders/genetics ; Female ; Fetus/diagnostic imaging ; Humans ; Hydronephrosis/genetics ; Karyotyping ; Noninvasive Prenatal Testing ; Nuchal Translucency Measurement ; Pregnancy ; Severity of Illness Index
SCR Disease Name :
Chromosome 18 deletion syndrome
Czasopismo naukowe
Tytuł :
[Results of non-invasive prenatal testing for 2473 women with twin pregnancy].
Autorzy :
Chen S; Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. .
Dai P
Zhao G
Zhang F
Guo W
Gao S
Kong X
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Apr 10; Vol. 38 (4), pp. 313-316.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Disorders*
Pregnancy, Twin*
Aneuploidy ; Female ; Humans ; Infant, Newborn ; Pregnancy ; Prenatal Diagnosis ; Trisomy ; Trisomy 13 Syndrome ; Trisomy 18 Syndrome
Czasopismo naukowe
Tytuł :
Phelan McDermid Syndrome: Multiple Sclerosis as a Rare but Treatable Cause for Regression-A Case Report.
Autorzy :
Jesse S; Department of Neurology, Ulm University, 89081 Ulm, Germany.
Delling JP; Institute of Anatomy and Cell Biology, Ulm University, 89081 Ulm, Germany.
Schön M; Institute of Anatomy and Cell Biology, Ulm University, 89081 Ulm, Germany.
Boeckers TM; Institute of Anatomy and Cell Biology, Ulm University, 89081 Ulm, Germany.; Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), 89081 Ulm, Germany.
Ludolph A; Department of Neurology, Ulm University, 89081 Ulm, Germany.; Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), 89081 Ulm, Germany.
Senel M; Department of Neurology, Ulm University, 89081 Ulm, Germany.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Feb 25; Vol. 22 (5). Date of Electronic Publication: 2021 Feb 25.
Typ publikacji :
Case Reports
MeSH Terms :
Regression, Psychology*
Autoimmune Diseases/*drug therapy
Chromosome Disorders/*complications
Methylprednisolone/*administration & dosage
Multiple Sclerosis/*complications
Abnormalities, Multiple/genetics ; Abnormalities, Multiple/physiopathology ; Administration, Intravenous ; Adult ; Autism Spectrum Disorder/complications ; Autoimmune Diseases/cerebrospinal fluid ; Autoimmune Diseases/complications ; Autoimmune Diseases/immunology ; Chromosome Deletion ; Chromosome Disorders/cerebrospinal fluid ; Chromosome Disorders/diagnostic imaging ; Chromosome Disorders/genetics ; Chromosomes, Human, 21-22 and Y/genetics ; Chromosomes, Human, Pair 22/genetics ; Female ; Humans ; Magnetic Resonance Imaging ; Multiple Sclerosis/cerebrospinal fluid ; Nerve Tissue Proteins/genetics ; Sequence Deletion ; Spinal Puncture
SCR Disease Name :
Telomeric 22q13 Monosomy Syndrome
Raport
Tytuł :
The behavioral profile of children aged 1-5 years with sex chromosome trisomy (47,XXX, 47,XXY, 47,XYY).
Autorzy :
Urbanus E; Clinical Neurodevelopmental Sciences, Leiden University, Leiden, The Netherlands.; Leiden Institute for Brain and Cognition, Leiden, The Netherlands.
Swaab H; Clinical Neurodevelopmental Sciences, Leiden University, Leiden, The Netherlands.; Leiden Institute for Brain and Cognition, Leiden, The Netherlands.
Tartaglia N; eXtraordinarY Kids Clinic, Developmental Pediatrics, Children's Hospital Colorado, Aurora, Colorado, USA.; Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.
Cordeiro L; eXtraordinarY Kids Clinic, Developmental Pediatrics, Children's Hospital Colorado, Aurora, Colorado, USA.; Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.
van Rijn S; Clinical Neurodevelopmental Sciences, Leiden University, Leiden, The Netherlands.; Leiden Institute for Brain and Cognition, Leiden, The Netherlands.
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Źródło :
American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2020 Jun; Vol. 184 (2), pp. 444-455. Date of Electronic Publication: 2020 May 20.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Problem Behavior*
Attention Deficit Disorder with Hyperactivity/*physiopathology
Sex Chromosome Disorders/*diagnosis
Trisomy/*physiopathology
Anxiety/diagnosis ; Anxiety/genetics ; Anxiety/physiopathology ; Attention Deficit Disorder with Hyperactivity/diagnosis ; Attention Deficit Disorder with Hyperactivity/genetics ; Child ; Child, Preschool ; Chromosomes, Human, X/genetics ; Female ; Humans ; Infant ; Male ; Sex Chromosome Aberrations ; Sex Chromosome Disorders/genetics ; Sex Chromosome Disorders/physiopathology ; Sex Chromosome Disorders of Sex Development/diagnosis ; Sex Chromosome Disorders of Sex Development/genetics ; Sex Chromosome Disorders of Sex Development/physiopathology ; Sex Chromosomes/genetics ; Trisomy/diagnosis ; Trisomy/genetics ; XYY Karyotype/diagnosis ; XYY Karyotype/genetics ; XYY Karyotype/physiopathology
SCR Disease Name :
47, XYY syndrome; Triple X syndrome
Czasopismo naukowe
Tytuł :
[Cytogenetic and molecular genetic analysis of three cases with small supernumerary marker chromosomes].
Autorzy :
Fan J; Shaoxing Women and Children's Health Care Hospital, Shaoxing, Zhejiang 312000, China. .
Zeng Y
Luo T
Che M
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Mar 10; Vol. 38 (3), pp. 264-267.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosome Banding*
Chromosome Disorders*
Karyotyping*
Cytogenetics ; Humans ; In Situ Hybridization, Fluorescence
Czasopismo naukowe
Tytuł :
[Prenatal diagnosis and genetic analysis of two fetuses with paternally derived 17q12 microdeletions].
Autorzy :
Zhang Y; Laboratory for Comprehensive Prevention and Treatment of Birth Defects, Ningbo Women and Children's Hospital, Ningbo, Zhejiang 315012, China. .
Liu Y
Yan L
Zhuang D
Li H
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Mar 10; Vol. 38 (3), pp. 224-227.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosome Disorders*
Polyhydramnios*/diagnosis
Polyhydramnios*/genetics
Prenatal Diagnosis*
Chromosomes, Human, Pair 17 ; Female ; Fetus ; Genetic Counseling ; Genetic Testing ; Humans ; Pregnancy
Czasopismo naukowe
Tytuł :
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Autorzy :
Radio FC; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Pang K; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
Ciolfi A; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Levy MA; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Hernández-García A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Pedace L; Oncohaematology Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Pantaleoni F; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Liu Z; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
de Boer E; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
Jackson A; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9 WL Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
McConkey H; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Stellacci E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Lo Cicero S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Motta M; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Carrozzo R; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Dentici ML; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
McWalter K; GeneDx, Gaithersburg, MD 20877, USA.
Desai M; GeneDx, Gaithersburg, MD 20877, USA.
Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA.
Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA.
Philippe C; Inserm UMR 1231 GAD (Génétique des Anomalies du Développement), Université de Bourgogne, 21070 Dijon, France; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU, Dijon Bourgogne, 21079 Dijon, France.
Vitobello A; Inserm UMR 1231 GAD (Génétique des Anomalies du Développement), Université de Bourgogne, 21070 Dijon, France; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU, Dijon Bourgogne, 21079 Dijon, France.
Au M; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Grand K; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Sanchez-Lara PA; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Baez J; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Lindstrom K; Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Kulch P; Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Sebastian J; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Madan-Khetarpal S; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Roadhouse C; McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.
MacKenzie JJ; McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.
Monteleone B; Clinical genetics, NYU Langone Long Island School of Medicine, Mineola, NY 11501, USA.
Saunders CJ; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Jean Cuevas JK; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Cross L; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Zhou D; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Hartley T; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Sawyer SL; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Monteiro FP; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.
Secches TV; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.
Kok F; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.
Schultz-Rogers LE; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Macke EL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Morava E; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Kemppainen J; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Iascone M; Ospedale Papa Giovanni XXIII, 24127 Bergamo, Italy.
Selicorni A; Azienda Socio Sanitaria Territoriale Lariana, 22100 Como, Italy.
Tenconi R; Dipartimento di Pediatria, Università di Padova, 35137 Padua, Italy.
Amor DJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Pais L; Medical and Populations Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Turnpenny PD; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Stals K; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Ellard S; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Cabet S; Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, Claude Bernard Lyon 1 University, 69002 Lyon, France.
Lesca G; Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, Claude Bernard Lyon 1 University, 69002 Lyon, France.
Pascal J; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.
Steindl K; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.
Ravid S; Pediatric Neurology Unit, Ruth Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.
Weiss K; Genetics Institute, Rambam Health Care Campus, Rappaport Faculty of Medicine, Israel Institute of Technology, Haifa 3109601, Israel.
Castle AMR; Department of Genetics, CHEO, University of Ottawa, Ottawa, ON K1N 6N5, Canada.
Carter MT; Department of Genetics, CHEO, University of Ottawa, Ottawa, ON K1N 6N5, Canada.
Kalsner L; Connecticut Children's Medical Center, University of Connecticut School of Medicine, Farmington, CT 06032, USA.
de Vries BBA; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
van Bon BW; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.
Wevers MR; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.
Pfundt R; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.
Stegmann APA; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands.
Kerr B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Kingston HM; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Chandler KE; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Sheehan W; Department of Medical Genetics, Shodair Children's Hospital, Helena, MT 59601, USA.
Elias AF; Department of Medical Genetics, Shodair Children's Hospital, Helena, MT 59601, USA.
Shinde DN; Ambry Genetics, Aliso Viejo, CA 92656, USA.
Towne MC; Ambry Genetics, Aliso Viejo, CA 92656, USA.
Robin NH; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Goodloe D; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Sherbini O; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Bluske K; Illumina Clinical Services Laboratory, San Diego, CA 92122, USA.
Hagelstrom RT; Illumina Clinical Services Laboratory, San Diego, CA 92122, USA.
Zanus C; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.
Faletra F; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.
Musante L; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.
Kurtz-Nelson EC; Department of Psychiatry & Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
Earl RK; Department of Psychiatry & Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
Anderlid BM; Department of Molecular Medicine and Surgery, Karolinska Institutet and Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.
Morin G; CA de Génétique Clinique & Oncogénétique, CHU Amiens-Picardie, 80054 Amiens, France.
van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Diderich KEM; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Brooks AS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Gribnau J; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Boers RG; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Finestra TR; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Carter LB; Department of Pediatrics, Division of Medical Genetics, Levine Children's Hospital Atrium Health, Charlotte, NC 28203, USA.
Rauch A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.
Gasparini P; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy; Department of Medicine, Surgery & Health Science, University of Trieste, 34143 Trieste, Italy.
Boycott KM; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Graham JM Jr; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Faivre L; Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes Malformatifs », Centre de Génétique, FHU-TRANSLAD et Institut GIMI, 77908 Dijon, France; UMR 1231 GAD, Inserm - Université Bourgogne-Franche Comté, 77908 Dijon, France.
Banka S; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9 WL Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.
Priolo M; UOSD Genetica Medica del Grande Ospedale Metropolitano 'Bianchi Melacrino Morelli' di Reggio Calabria, 89124 Reggio Calabria, Italy.
Dallapiccola B; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Vissers LELM; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
Sadikovic B; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.
Holder JL Jr; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
Tartaglia M; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Mar 04; Vol. 108 (3), pp. 502-516. Date of Electronic Publication: 2021 Feb 16.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Disorders/*genetics
Chromosomes, Human, Pair 1/*genetics
Chromosomes, Human, X/*genetics
DNA-Binding Proteins/*genetics
RNA-Binding Proteins/*genetics
Adolescent ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/pathology ; Child ; Child, Preschool ; Chromosome Deletion ; Chromosome Disorders/physiopathology ; DNA Methylation/genetics ; Epigenesis, Genetic/genetics ; Female ; Haploinsufficiency/genetics ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/physiopathology ; Male ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/physiopathology ; Phenotype ; Young Adult
SCR Disease Name :
Chromosome 1p36 Deletion Syndrome
Czasopismo naukowe
Tytuł :
Cross-Platform Validation of 15q13.3 Microdeletion Network Effects in Human Neurons.
Autorzy :
Fernando MB; Graduate School of Biomedical Science and the Nash Family Department of Neuroscience, Friedman Brain Institute, Pamela Sklar Division of Psychiatric Genomics, Black Family Stem Cell Institute, Icahn School of Medicine at Mount Sinai, New York, New York. Electronic address: .
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Źródło :
Biological psychiatry [Biol Psychiatry] 2021 Mar 01; Vol. 89 (5), pp. e25-e27.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Comment
MeSH Terms :
Chromosome Disorders*/genetics
Intellectual Disability*/genetics
Chromosome Deletion ; Chromosomes, Human, Pair 15/genetics ; Epigenome ; Humans ; Neurons ; Seizures ; Transcriptome
SCR Disease Name :
Chromosome 15q13.3 Microdeletion Syndrome
Czasopismo naukowe
Tytuł :
Network Effects of the 15q13.3 Microdeletion on the Transcriptome and Epigenome in Human-Induced Neurons.
Autorzy :
Zhang S; Department of Genetics, School of Humanities and Science, Stanford University, Stanford, California.
Zhang X; Department of Psychiatry and Behavioral Sciences, School of Humanities and Science, Stanford University, Stanford, California.
Purmann C; Department of Psychiatry and Behavioral Sciences, School of Humanities and Science, Stanford University, Stanford, California.
Ma S; and Department of Pediatrics, School of Humanities and Sciences, Stanford University, Stanford, California.
Shrestha A; School of Medicine, Stanford University, and Department of Statistics, School of Humanities and Sciences, Stanford University, Stanford, California.
Davis KN; Department of Psychiatry and Behavioral Sciences, School of Humanities and Science, Stanford University, Stanford, California.
Ho M; Department of Psychiatry and Behavioral Sciences, School of Humanities and Science, Stanford University, Stanford, California.
Huang Y; Department of Psychiatry and Behavioral Sciences, School of Humanities and Science, Stanford University, Stanford, California.
Pattni R; Department of Psychiatry and Behavioral Sciences, School of Humanities and Science, Stanford University, Stanford, California.
Wong WH; and Department of Pediatrics, School of Humanities and Sciences, Stanford University, Stanford, California.
Bernstein JA; and Department of Human Biology, School of Humanities and Science, Stanford University, Stanford, California.
Hallmayer J; Department of Psychiatry and Behavioral Sciences, School of Humanities and Science, Stanford University, Stanford, California.
Urban AE; Department of Genetics, School of Humanities and Science, Stanford University, Stanford, California; Department of Psychiatry and Behavioral Sciences, School of Humanities and Science, Stanford University, Stanford, California. Electronic address: .
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Źródło :
Biological psychiatry [Biol Psychiatry] 2021 Mar 01; Vol. 89 (5), pp. 497-509. Date of Electronic Publication: 2020 Jul 01.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Disorders*/genetics
Epigenome*
Chromosome Deletion ; Chromosomes, Human, Pair 15/genetics ; Humans ; Intellectual Disability ; Neurons ; Seizures ; Transcriptome
SCR Disease Name :
Chromosome 15q13.3 Microdeletion Syndrome
Czasopismo naukowe
Tytuł :
Prenatal diagnosis and ultrasonographic findings of partial trisomy of chromosome 6q: A case report and review of the literature.
Autorzy :
Li L; Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, China.
Yu Y
Zhang H
Jiang Y
Liu R
Zhang H
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Źródło :
Medicine [Medicine (Baltimore)] 2021 Jan 15; Vol. 100 (2), pp. e24091.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Ultrasonography, Prenatal*
Chromosome Disorders/*diagnostic imaging
Abortion, Induced ; Adult ; Amniocentesis ; Chromosome Disorders/embryology ; Chromosomes, Human, Pair 6 ; Female ; Fetus/diagnostic imaging ; Humans ; Karyotype ; Polymorphism, Single Nucleotide ; Pregnancy ; Trisomy
SCR Disease Name :
6q+ Syndrome, Partial
Czasopismo naukowe
Tytuł :
Structural abnormalities of chromosome 8 and fetoplacental discrepancy: A second case report and review of fetal phenotype of 8p inverted duplication deletion syndrome.
Autorzy :
Huynh MT; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093, Nantes, France. Electronic address: .
Riteau AS; Service de Gynéco-obstétrique, Clinique Jules Verne, Nantes, France.
Moradkhani K; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093, Nantes, France.
Pichon O; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093, Nantes, France.
Richard S; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093, Nantes, France.
Joubert M; Service d'anatomie et cytologie pathologiques, CHU de Nantes, France.
Bézieau S; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093, Nantes, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000, Nantes, France.
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Jan; Vol. 64 (1), pp. 104118. Date of Electronic Publication: 2020 Nov 26.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosome Duplication*
Mosaicism*
Phenotype*
Chromosome Disorders/*genetics
Chromosomes, Human, Pair 8/*genetics
Adult ; Chromosome Disorders/pathology ; Chromosome Inversion ; Female ; Fetus/abnormalities ; Fetus/diagnostic imaging ; Humans ; Nuchal Translucency Measurement ; Pregnancy
Czasopismo naukowe
Tytuł :
50 Years Ago in TheJournalofPediatrics: An Update on the Phenotypic Map of 18q Deletions.
Autorzy :
Giampietro PF; Division of Medical Genetics, Rutgers-Robert Wood Johnson Medical School, New Brunswick, New Jersey.
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Źródło :
The Journal of pediatrics [J Pediatr] 2021 Jan; Vol. 228, pp. 227.
Typ publikacji :
Historical Article; Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosome Disorders/*history
Chromosomes, Human, Pair 18/*genetics
Pediatrics/*history
Periodicals as Topic/*history
Child ; Chromosome Disorders/genetics ; History, 20th Century ; History, 21st Century ; Humans ; Phenotype
Czasopismo naukowe
Tytuł :
Chromosomal microarray should be performed for cases of fetal short long bones detected prenatally.
Autorzy :
Tzadikevitch Geffen K; Department of Obstetrics and Gynecology, Meir Medical Center, 59 Tchernichovsky St, Kfar Saba, Israel. .; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. .
Singer A; Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel.
Maya I; Rabin Medical Center, Recanati Genetics Institute, Petah Tikva, Israel.
Sagi-Dain L; Genetics Institute, Carmel Medical Center, affiliated to the Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
Khayat M; Genetics Institute, Emek Medical Center, Afula, Israel.
Ben-Shachar S; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; The Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Daum H; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Michaelson-Cohen R; Genetics Institute and Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel.
Feingold-Zadok M; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Genetic Institute, Shamir Medical Center (Assaf Harofeh), Zerifin, Israel.
Sukenik Halevy R; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Rabin Medical Center, Recanati Genetics Institute, Petah Tikva, Israel.
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Źródło :
Archives of gynecology and obstetrics [Arch Gynecol Obstet] 2021 Jan; Vol. 303 (1), pp. 85-92. Date of Electronic Publication: 2020 Aug 06.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Disorders/*diagnosis
Fetal Growth Retardation/*diagnostic imaging
Fetus/*diagnostic imaging
Microarray Analysis/*methods
Prenatal Diagnosis/*methods
Ultrasonography, Prenatal/*methods
Chromosome Aberrations ; Chromosome Disorders/genetics ; Cohort Studies ; DNA Copy Number Variations ; Female ; Femur/diagnostic imaging ; Fetal Growth Retardation/diagnosis ; Fetal Growth Retardation/genetics ; Humans ; Humerus/diagnostic imaging ; Pregnancy ; Pregnancy Outcome ; Prevalence
Czasopismo naukowe
Tytuł :
Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature.
Autorzy :
Ziats CA; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC, USA. Electronic address: .
Jain L; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC, USA; School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, Clemson, SC, USA.
McLarney B; Phelan-McDermid Syndrome Foundation, Osprey, FL, USA.
Vandenboom E; Phelan-McDermid Syndrome Foundation, Osprey, FL, USA.
DuPont BR; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC, USA.
Rogers C; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC, USA.
Sarasua S; School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, Clemson, SC, USA.
Nevado J; INGEMM -Instituto de Genética Médica y Molecular/Hospital Universitario La Paz, IdiPAZ- Instituto de Investigación Sanitaria del Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain, and CIBERER (Centro de Investigación Básica en RED de Enfermedades Raras), Madrid, Spain.
Cordisco EL; Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Genetica Medica, Rome, Italy; Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Rome, Italy.
Phelan K; Cytogenetics Laboratory, Florida Cancer Specialists and Research Institute, Fort Myers, FL, USA.
Boccuto L; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC, USA; Clemson University School of Health Research, Clemson, SC, USA.
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2020 Nov; Vol. 63 (11), pp. 104042. Date of Electronic Publication: 2020 Aug 19.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Chromosome Disorders/*genetics
Neurofibromatosis 2/*genetics
Adult ; Child ; Chromosome Deletion ; Chromosome Disorders/diagnostic imaging ; Chromosome Disorders/pathology ; Chromosomes, Human, Pair 22/genetics ; Genetic Testing ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Neurofibromatosis 2/diagnostic imaging ; Neurofibromatosis 2/pathology ; Neurofibromin 2/genetics ; Ring Chromosomes
SCR Disease Name :
Chromosome 22 ring; Telomeric 22q13 Monosomy Syndrome
Czasopismo naukowe
Tytuł :
Clinical management of pregnancies with positive screening results for rare autosomal aneuploidies at a single center.
Autorzy :
Gou L; Center for Genetic Medicine, Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, Jiangsu, China.
Fang Y; Center for Genetic Medicine, Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, Jiangsu, China.
Wang N; DAAN Gene Co., Ltd. of Sun Yat-sen University, Guangzhou, Guangdong, China.
Zhang M; Zhejiang Biosan Biochemical Technologies Co., Ltd., Hangzhou, Zhejiang, China.
Liu T; Department of Pharmacy, The Affiliated Hospital of Xuzhou Medical University, Xuzhou, Jiangsu, China.
Wang Y; Center for Genetic Medicine, Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, Jiangsu, China.
Hu S; Office of Scientific Research & Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, Henan Province, China.
Zhang Y; Center for Genetic Medicine, Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, Jiangsu, China.
Wu Q; Zhejiang Biosan Biochemical Technologies Co., Ltd., Hangzhou, Zhejiang, China.
Wang Y; Department of Ultrasound, Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, Jiangsu, China.
Suo F; Center for Genetic Medicine, Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, Jiangsu, China.
Gu M; Center for Genetic Medicine, Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, Jiangsu, China.
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Źródło :
The Journal of international medical research [J Int Med Res] 2020 Nov; Vol. 48 (11), pp. 300060520966877.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Disorders*/diagnosis
Chromosome Disorders*/genetics
Aneuploidy ; China ; Female ; Humans ; Pregnancy ; Prenatal Diagnosis ; Retrospective Studies ; Trisomy
Czasopismo naukowe
Tytuł :
[Diagnosis of a fetus with a de novo 16q partial trisomy syndrome].
Autorzy :
Hu L; Prenatal Diagnosis Center, Changsha Maternal and Child Health Care Hospital, Hunan 410007, China. .
Wang W
Li H
Zhou S
Liu S
Yang M
Bu X
He J
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Oct 10; Vol. 37 (10), pp. 1084-1086.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Disorders*/diagnosis
Chromosome Disorders*/genetics
Trisomy*/diagnosis
Trisomy*/genetics
Prenatal Diagnosis/*methods
Chromosomes, Human, Pair 16 ; Female ; Fetus ; Humans ; Karyotyping ; Pregnancy ; Ultrasonography
Czasopismo naukowe
Tytuł :
[Retrospective analysis of 44 578 pregnancies undergoing non-invasive prenatal testing in Weifang].
Autorzy :
Xu H; Weifang Family Planning Guidance Center, Shandong 261041, China. .
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Oct 10; Vol. 37 (10), pp. 1065-1068.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Disorders*/diagnosis
Chromosome Disorders*/genetics
Prenatal Diagnosis/*methods
Amniotic Fluid/cytology ; DNA Copy Number Variations ; Female ; Fetal Blood ; Humans ; Karyotyping ; Pregnancy ; Retrospective Studies ; Sensitivity and Specificity ; Trisomy/diagnosis ; Trisomy/genetics ; Trisomy 13 Syndrome/diagnosis ; Trisomy 13 Syndrome/genetics ; Trisomy 18 Syndrome/diagnosis ; Trisomy 18 Syndrome/genetics
Czasopismo naukowe
Tytuł :
[Application of bionano optical mapping for the diagnosis of a 16p11.2-p12.2 microdeletion].
Autorzy :
Dai P; Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. .
Zhu C
Zhao G
Dong X
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Oct 10; Vol. 37 (10), pp. 1167-1171.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosome Disorders*/diagnosis
Chromosome Disorders*/genetics
DNA Copy Number Variations*
Chromosomes, Human, Pair 16 ; Humans ; Karyotyping
Czasopismo naukowe

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