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Wyszukujesz frazę ""Heterozygote"" wg kryterium: Temat


Tytuł :
How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers?
Autorzy :
Wiland E; Institute of Human Genetics, Polish Academy of Sciences, ul. Strzeszynska 32, 60-479, Poznan, Poland.
Olszewska M; Institute of Human Genetics, Polish Academy of Sciences, ul. Strzeszynska 32, 60-479, Poznan, Poland.
Woźniak T; Institute of Human Genetics, Polish Academy of Sciences, ul. Strzeszynska 32, 60-479, Poznan, Poland.
Kurpisz M; Institute of Human Genetics, Polish Academy of Sciences, ul. Strzeszynska 32, 60-479, Poznan, Poland. .
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Źródło :
Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2020 Dec; Vol. 77 (23), pp. 4765-4785. Date of Electronic Publication: 2020 Jun 08.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Heterozygote*
Translocation, Genetic*
Chromosomes/*genetics
Spermatozoa/*metabolism
Chromosome Segregation/genetics ; Humans ; Male ; Meiosis/genetics
Czasopismo naukowe
Tytuł :
[Analysis of prenatal phenotype and pathogenetic variant in a fetus with Papillorenal syndrome].
Autorzy :
Zhao X; Department of Rehabilitation, Zhengzhou Maternal and Child Health Care Hospital, Zhengzhou, Henan 450000, China. .
Yang D
Jia Y
Shou Y
Wang L
Wang X
Fu J
Guo H
Zhao J
Yin H
Zhang X
Zhu X
Gao L
Ma C
Xie Z
Shi 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] 2020 Sep 10; Vol. 37 (9), pp. 958-961.
Typ publikacji :
Journal Article
MeSH Terms :
Connexins*/genetics
Heterozygote*
Prenatal Diagnosis*
Coloboma/*genetics
Renal Insufficiency/*genetics
Vesico-Ureteral Reflux/*genetics
China ; Coloboma/diagnosis ; DNA Mutational Analysis ; Deafness/genetics ; Female ; Fetus ; Homozygote ; Humans ; Infant, Newborn ; Mutation ; Phenotype ; Pregnancy ; Renal Insufficiency/diagnosis ; Sulfate Transporters/genetics ; Vesico-Ureteral Reflux/diagnosis
SCR Disease Name :
Papillorenal syndrome
Czasopismo naukowe
Tytuł :
Regional sequence expansion or collapse in heterozygous genome assemblies.
Autorzy :
Asalone KC; Biology Department, American University, Washington DC, United States of America.
Ryan KM; Biology Department, American University, Washington DC, United States of America.
Yamadi M; Biology Department, American University, Washington DC, United States of America.
Cohen AL; Biology Department, American University, Washington DC, United States of America.
Farmer WG; Biology Department, American University, Washington DC, United States of America.
George DJ; Biology Department, American University, Washington DC, United States of America.
Joppert C; Biology Department, American University, Washington DC, United States of America.
Kim K; Biology Department, American University, Washington DC, United States of America.
Mughal MF; Biology Department, American University, Washington DC, United States of America.
Said R; Biology Department, American University, Washington DC, United States of America.
Toksoz-Exley M; Mathematics and Statistics Department, American University, Washington DC, United States of America.
Bisk E; Office of Information Technology, American University, Washington DC, United States of America.
Bracht JR; Biology Department, American University, Washington DC, United States of America.
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Źródło :
PLoS computational biology [PLoS Comput Biol] 2020 Jul 31; Vol. 16 (7), pp. e1008104. Date of Electronic Publication: 2020 Jul 31 (Print Publication: 2020).
Typ publikacji :
Journal Article; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Contig Mapping*
Genome, Helminth*
Heterozygote*
Molecular Sequence Annotation/*methods
Nematoda/*genetics
ATP Binding Cassette Transporter, Subfamily B, Member 1/metabolism ; Algorithms ; Animals ; High-Throughput Nucleotide Sequencing/methods ; Likelihood Functions ; Proteome ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł :
[A case of motor and sensory polyneuropathy and respiratory failure with novel heterozygous mutation of the senataxin gene].
Autorzy :
Kitao R; Department of Neurology, National Hospital Organization Hakone Hospital.
Honma Y; Department of Neurology, National Hospital Organization Shizuoka Fuji Hospital (Present address: Department of Neurology, National Hospital Organization Shizuoka Medical Center).
Hashiguchi A; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences.
Mizoguchi K; Department of Neurology, National Hospital Organization Shizuoka Fuji Hospital (Present address: Department of Neurology, National Hospital Organization Shizuoka Medical Center).
Takashima H; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences.
Komori T; Department of Neurology, National Hospital Organization Hakone Hospital.
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Źródło :
Rinsho shinkeigaku = Clinical neurology [Rinsho Shinkeigaku] 2020 Jul 31; Vol. 60 (7), pp. 466-472. Date of Electronic Publication: 2020 Jun 13.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Heterozygote*
Mutation*
DNA Helicases/*genetics
Multifunctional Enzymes/*genetics
Polyneuropathies/*etiology
Polyneuropathies/*genetics
RNA Helicases/*genetics
Respiratory Insufficiency/*etiology
Respiratory Insufficiency/*genetics
Adult ; Amyotrophic Lateral Sclerosis ; Child ; Child, Preschool ; Humans ; Male ; Motor Neurons ; Muscle Weakness/etiology ; Sensory Receptor Cells
SCR Disease Name :
Amyotrophic Lateral Sclerosis 4, Juvenile
Czasopismo naukowe
Tytuł :
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.
Autorzy :
Herkert JC; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands. Electronic address: .
Verhagen JMA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands. Electronic address: .
Yotti R; Instituto de Investigación Sanitaria Gregorio Maranón, and CIBERCV, Instituto de Salud Carlos III (ISCIII), Madrid, Spain.
Haghighi A; Department of Genetics, Harvard Medical School Boston, MA, USA; Department of Medicine (Genetics), Brigham and Women's Hospital, Boston, MA, USA.
Phelan DG; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Victoria, Australia; Department of Pediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Victoria, Australia.
James PA; Genetic Medicine, Royal Melbourne Hospital, Victoria, Australia.
Brown NJ; Department of Pediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Victoria, Australia.
Stutterd C; Genetic Medicine, Royal Melbourne Hospital, Victoria, Australia.
Macciocca I; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Victoria, Australia.
Leong K; Department of Cardiology, The Royal Children's Hospital, Victoria, Australia.
Bulthuis MLC; University of Groningen, University Medical Center Groningen, Department of Pathology and Medical Biology, Groningen, The Netherlands.
van Bever Y; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Boven LG; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Roberts AE; Department of Cardiology, Boston Children Hospital, Boston, MA, USA.
Agarwal R; Department of Genetics, Harvard Medical School Boston, MA, USA.
Seidman J; Department of Genetics, Harvard Medical School Boston, MA, USA.
Lakdawala NK; Department of Medicine (Genetics), Brigham and Women's Hospital, Boston, MA, USA.
Fernández-Avilés F; Instituto de Investigación Sanitaria Gregorio Maranón, and CIBERCV, Instituto de Salud Carlos III (ISCIII), Madrid, Spain.
Burke MA; Department of Medicine, Division of Cardiology, Emory University, Atlanta, GA, USA.
Pierpont ME; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
Braunlin E; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
Ḉağlayan AO; Department of Medical Genetics, School of Medicine, Department of Molecular Medicine, Institute of Health Sciences, Dokuz Eylül University, Izmir, Turkey; Departments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, CT, USA.
Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Birnie E; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
van Osch-Gevers L; Department of Pediatric Cardiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
van Langen IM; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Jongbloed JDH; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Lockhart PJ; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Victoria, Australia; Department of Pediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Victoria, Australia.
Amor DJ; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Victoria, Australia; Department of Pediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Victoria, Australia.
Seidman CE; Department of Genetics, Harvard Medical School Boston, MA, USA; Department of Medicine (Genetics), Brigham and Women's Hospital, Boston, MA, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA.
van de Laar IMBH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
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Źródło :
American heart journal [Am Heart J] 2020 Jul; Vol. 225, pp. 108-119. Date of Electronic Publication: 2020 Apr 21.
Typ publikacji :
Journal Article
MeSH Terms :
Heterozygote*
Loss of Function Mutation*
Mutation, Missense*
Cardiomyopathies/*genetics
Muscle Proteins/*genetics
Protein Kinases/*genetics
Abnormalities, Multiple/genetics ; Adult ; Age of Onset ; Cardiomyopathies/diagnostic imaging ; Cardiomyopathies/physiopathology ; Cardiomyopathy, Dilated/genetics ; Cardiomyopathy, Hypertrophic/genetics ; Child ; Child, Preschool ; Chromosomes, Human, Pair 15/genetics ; Echocardiography ; Electrocardiography ; Humans ; Infant ; Phenotype
Czasopismo naukowe
Tytuł :
The function of a heterozygous p53 mutation in a Li-Fraumeni syndrome patient.
Autorzy :
Li Y; Department of Hematology & Oncology, Key Laboratory of Pediatric Hematology and Oncology Ministry of Health, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Li T; Department of Hematology & Oncology, Key Laboratory of Pediatric Hematology and Oncology Ministry of Health, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Tang Y; Department of Hematology & Oncology, Key Laboratory of Pediatric Hematology and Oncology Ministry of Health, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Zhan Z; Department of Hematology & Oncology, Key Laboratory of Pediatric Hematology and Oncology Ministry of Health, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Ding L; Department of Hematology & Oncology, Key Laboratory of Pediatric Hematology and Oncology Ministry of Health, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Song L; Department of Hematology & Oncology, Key Laboratory of Pediatric Hematology and Oncology Ministry of Health, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Yu T; Molecular Biological Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Yang Y; Department of Hematology & Oncology, Key Laboratory of Pediatric Hematology and Oncology Ministry of Health, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Ma J; Department of Pathology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Zhang Y; Department of Hematology & Oncology, Key Laboratory of Pediatric Hematology and Oncology Ministry of Health, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Zhou Y; Department of Radiology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Gu S; Department of General Surgery/Surgical Oncology Center, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Xu M; Department of General Surgery/Surgical Oncology Center, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Gao Y; Department of Hematology & Oncology, Key Laboratory of Pediatric Hematology and Oncology Ministry of Health, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Li Y; Department of Hematology & Oncology, Key Laboratory of Pediatric Hematology and Oncology Ministry of Health, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
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Źródło :
PloS one [PLoS One] 2020 Jun 09; Vol. 15 (6), pp. e0234262. Date of Electronic Publication: 2020 Jun 09 (Print Publication: 2020).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Heterozygote*
Mutation*
Li-Fraumeni Syndrome/*genetics
Tumor Suppressor Protein p53/*genetics
Alleles ; Animals ; Base Sequence ; HEK293 Cells ; Humans ; Mice
Czasopismo naukowe
Tytuł :
[Identification of compound heterozygous variants of F12 gene in a pedigree affected with inherited coagulation factor XII deficiency].
Autorzy :
Xie H; Center of Laboratory Medicine, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325015, China. wywms @126.com.
Zhang H
Xu M
Zou A
Jin Y
Yang L
Pan J
Wang 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] 2020 May 10; Vol. 37 (5), pp. 519-522.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Factor XII*/genetics
Factor XII Deficiency*/genetics
Heterozygote*
Exons ; Humans ; Pedigree
Czasopismo naukowe
Tytuł :
[Identification of novel compound heterozygous variants in a pedigree affected with hereditary coagulation factor XI deficiency].
Autorzy :
Xia H; Center of Laboratory Medicine, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325015, China. .
Li X
Zhu L
Jin Y
Yang L
Pan J
Zhang H
Wang 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] 2020 May 10; Vol. 37 (5), pp. 501-504.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Factor XI Deficiency*/genetics
Genetic Variation*
Heterozygote*
Pedigree*
Female ; Humans ; Mutation
Czasopismo naukowe
Tytuł :
CSF cutoffs for MCI due to AD depend on APOEε4 carrier status.
Autorzy :
Marizzoni M; Laboratory of Neuroimaging and Alzheimer's Epidemiology, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy. Electronic address: .
Ferrari C; Unit of Statistics, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
Babiloni C; Department of Physiology and Pharmacology 'V. Erspamer', Sapienza University of Rome, Rome, Italy; Hospital San Raffaele Cassino (FR), Cassino, Italy.
Albani D; Neuroscience Department, IRCCS - Istituto di Ricerche Farmacologiche Mario Negri, Milano, Italy.
Barkhof F; Department of Radiology and Nuclear Medicine, Amsterdam UMC Location VUmc, Amsterdam, the Netherlands; Institutes of Neurology and Healthcare Engineering, UCL, London, UK.
Cavaliere L; Laboratory of Neuroimaging and Alzheimer's Epidemiology, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
Didic M; Aix Marseille Univ, INSERM, INS, Inst Neurosci Syst, Marseille, France; APHM, Timone, Service de Neurologie et Neuropsychologie, APHM Hôpital Timone Adultes, Marseille, France.
Forloni G; Neuroscience Department, IRCCS - Istituto di Ricerche Farmacologiche Mario Negri, Milano, Italy.
Fusco F; Neuroscience Department, IRCCS - Istituto di Ricerche Farmacologiche Mario Negri, Milano, Italy.
Galluzzi S; Laboratory of Neuroimaging and Alzheimer's Epidemiology, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
Hensch T; Department of Psychiatry and Psychotherapy, University of Leipzig, Leipzig, Germany.
Jovicich J; Center for Mind/Brain Sciences, University of Trento, Trento, Italy.
Marra C; Department of Gerontology, Neurosciences & Orthopedics, Catholic University, Rome, Italy.
Molinuevo JL; Alzheimer's Disease Unit and Other Cognitive Disorders Unit, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Catalunya, Spain.
Nobili F; Dept. of Neuroscience (DINOGMI), University of Genoa, Genoa, Italy; Clinica Neurologica, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Parnetti L; Clinica Neurologica, Università di Perugia, Ospedale Santa Maria della Misericordia, Perugia, Italy.
Payoux P; ToNIC, Toulouse NeuroImaging Center, Université de Toulouse, Inserm, UPS, France.
Ranjeva JP; Aix-Marseille Université, INSERM, Marseille, France; Service de Neurologie et Neuropsychologie, APHM Hôpital Timone Adultes, Marseille, France.
Ribaldi F; Laboratory of Neuroimaging and Alzheimer's Epidemiology, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy; Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
Rolandi E; Laboratory of Neuroimaging and Alzheimer's Epidemiology, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
Rossini PM; Area Neuroscience, IRCCS San Raffaele, Rome, Italy.
Salvatore M; SDN Istituto di Ricerca Diagnostica e Nucleare, Napoli, Italy.
Soricelli A; SDN Istituto di Ricerca Diagnostica e Nucleare, Napoli, Italy.
Tsolaki M; 1st University Department of Neurology, Aristotle University of Thessaloniki, Thessaloniki, Makedonia, Greece.
Visser PJ; Department of Neurology, Alzheimer Centre, VU Medical Centre, Amsterdam, the Netherlands.
Wiltfang J; Department of Psychiatry and Psychotherapy, LVR-Hospital Essen, Faculty of Medicine, University of Duisburg-Essen, Essen, Germany; Department of Psychiatry and Psychotherapy, University Medical Center (UMG), Georg-August-University, Goettingen, Germany; Medical Sciences Department, iBiMED, University of Aveiro, Aveiro, Portugal.
Richardson JC; Neurosciences Therapeutic Area, GlaxoSmithKline R&D, Stevenage, UK.
Bordet R; University of Lille, Inserm, CHU, Lille, France; U1171 - Degenerative and Vascular Cognitive Disorders, Lille, France.
Blin O; Aix Marseille University, UMR-INSERM 1106, Service de Pharmacologie Clinique, APHM, Marseille, France.
Frisoni GB; Memory Clinic and LANVIE - Laboratory of Neuroimaging of Aging, University Hospitals and University of Geneva, Geneva, Switzerland.
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Źródło :
Neurobiology of aging [Neurobiol Aging] 2020 May; Vol. 89, pp. 55-62. Date of Electronic Publication: 2019 Dec 30.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Heterozygote*
Alzheimer Disease/*diagnosis
Alzheimer Disease/*genetics
Amyloid beta-Peptides/*cerebrospinal fluid
Apolipoproteins E/*genetics
Biomarkers/*cerebrospinal fluid
Cognitive Dysfunction/*diagnosis
Cognitive Dysfunction/*genetics
Peptide Fragments/*cerebrospinal fluid
tau Proteins/*cerebrospinal fluid
Aged ; Aged, 80 and over ; Alzheimer Disease/complications ; Cognitive Dysfunction/etiology ; Cohort Studies ; Female ; Humans ; Male
Czasopismo naukowe
Tytuł :
Two Novel TMPRSS6 Variants in a Compound Heterozygous Child With Iron Refractory Iron Deficiency Anemia.
Autorzy :
Allison J; 985450 Nebraska Medical Center, University of Nebraska Medical Center.
Drury L; PreventionGenetics, Marshfield, WI.
Ford JB; 982168 Nebraska Medical Center, University of Nebraska Medical Center, Omaha, NE.
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Źródło :
Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2020 May; Vol. 42 (4), pp. e238-e239.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Heterozygote*
Anemia, Iron-Deficiency/*genetics
Membrane Proteins/*genetics
Serine Endopeptidases/*genetics
Anemia, Iron-Deficiency/drug therapy ; Family ; Female ; Humans ; Infant ; Iron/administration & dosage ; Male
Czasopismo naukowe
Tytuł :
Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity.
Autorzy :
Bremova-Ertl T; From the Department of Neurology (T.B.-E., C.S., M.M., M.S., S.A.S.), German Center for Vertigo and Balance Disorders (T.B.-E., D.N., M.S.), and Institute of Radiology (D.A.C.), Ludwig Maximilians University, University Hospital Grosshadern, Munich, Germany; Departments of Neurology (T.B.-E.) and Nuclear Medicine (A.R.), Inselspital, University Hospital Bern, Switzerland; Department of Nuclear Medicine (M.B., A.R.), University Hospital, LMU Munich; Department of Neurology (B.M.), University Hospital, Schleswig-Holstein, Kiel Campus; Institute for Medical Genetics and Genomics (S.B.-W.), Tübingen, Germany; Center for Neurodegenerative Science (C. K.-R., J.B.), Van Andel Research Institute, Grand Rapids, MI; Munich Cluster for Systems Neurology (SyNergy) (A.R.), Munich, Germany; and University of Bern (A.R.), Switzerland. .
Sztatecsny C; From the Department of Neurology (T.B.-E., C.S., M.M., M.S., S.A.S.), German Center for Vertigo and Balance Disorders (T.B.-E., D.N., M.S.), and Institute of Radiology (D.A.C.), Ludwig Maximilians University, University Hospital Grosshadern, Munich, Germany; Departments of Neurology (T.B.-E.) and Nuclear Medicine (A.R.), Inselspital, University Hospital Bern, Switzerland; Department of Nuclear Medicine (M.B., A.R.), University Hospital, LMU Munich; Department of Neurology (B.M.), University Hospital, Schleswig-Holstein, Kiel Campus; Institute for Medical Genetics and Genomics (S.B.-W.), Tübingen, Germany; Center for Neurodegenerative Science (C. K.-R., J.B.), Van Andel Research Institute, Grand Rapids, MI; Munich Cluster for Systems Neurology (SyNergy) (A.R.), Munich, Germany; and University of Bern (A.R.), Switzerland.
Brendel M; From the Department of Neurology (T.B.-E., C.S., M.M., M.S., S.A.S.), German Center for Vertigo and Balance Disorders (T.B.-E., D.N., M.S.), and Institute of Radiology (D.A.C.), Ludwig Maximilians University, University Hospital Grosshadern, Munich, Germany; Departments of Neurology (T.B.-E.) and Nuclear Medicine (A.R.), Inselspital, University Hospital Bern, Switzerland; Department of Nuclear Medicine (M.B., A.R.), University Hospital, LMU Munich; Department of Neurology (B.M.), University Hospital, Schleswig-Holstein, Kiel Campus; Institute for Medical Genetics and Genomics (S.B.-W.), Tübingen, Germany; Center for Neurodegenerative Science (C. K.-R., J.B.), Van Andel Research Institute, Grand Rapids, MI; Munich Cluster for Systems Neurology (SyNergy) (A.R.), Munich, Germany; and University of Bern (A.R.), Switzerland.
Moser M; From the Department of Neurology (T.B.-E., C.S., M.M., M.S., S.A.S.), German Center for Vertigo and Balance Disorders (T.B.-E., D.N., M.S.), and Institute of Radiology (D.A.C.), Ludwig Maximilians University, University Hospital Grosshadern, Munich, Germany; Departments of Neurology (T.B.-E.) and Nuclear Medicine (A.R.), Inselspital, University Hospital Bern, Switzerland; Department of Nuclear Medicine (M.B., A.R.), University Hospital, LMU Munich; Department of Neurology (B.M.), University Hospital, Schleswig-Holstein, Kiel Campus; Institute for Medical Genetics and Genomics (S.B.-W.), Tübingen, Germany; Center for Neurodegenerative Science (C. K.-R., J.B.), Van Andel Research Institute, Grand Rapids, MI; Munich Cluster for Systems Neurology (SyNergy) (A.R.), Munich, Germany; and University of Bern (A.R.), Switzerland.
Möller B; From the Department of Neurology (T.B.-E., C.S., M.M., M.S., S.A.S.), German Center for Vertigo and Balance Disorders (T.B.-E., D.N., M.S.), and Institute of Radiology (D.A.C.), Ludwig Maximilians University, University Hospital Grosshadern, Munich, Germany; Departments of Neurology (T.B.-E.) and Nuclear Medicine (A.R.), Inselspital, University Hospital Bern, Switzerland; Department of Nuclear Medicine (M.B., A.R.), University Hospital, LMU Munich; Department of Neurology (B.M.), University Hospital, Schleswig-Holstein, Kiel Campus; Institute for Medical Genetics and Genomics (S.B.-W.), Tübingen, Germany; Center for Neurodegenerative Science (C. K.-R., J.B.), Van Andel Research Institute, Grand Rapids, MI; Munich Cluster for Systems Neurology (SyNergy) (A.R.), Munich, Germany; and University of Bern (A.R.), Switzerland.
Clevert DA; From the Department of Neurology (T.B.-E., C.S., M.M., M.S., S.A.S.), German Center for Vertigo and Balance Disorders (T.B.-E., D.N., M.S.), and Institute of Radiology (D.A.C.), Ludwig Maximilians University, University Hospital Grosshadern, Munich, Germany; Departments of Neurology (T.B.-E.) and Nuclear Medicine (A.R.), Inselspital, University Hospital Bern, Switzerland; Department of Nuclear Medicine (M.B., A.R.), University Hospital, LMU Munich; Department of Neurology (B.M.), University Hospital, Schleswig-Holstein, Kiel Campus; Institute for Medical Genetics and Genomics (S.B.-W.), Tübingen, Germany; Center for Neurodegenerative Science (C. K.-R., J.B.), Van Andel Research Institute, Grand Rapids, MI; Munich Cluster for Systems Neurology (SyNergy) (A.R.), Munich, Germany; and University of Bern (A.R.), Switzerland.
Beck-Wödl S; From the Department of Neurology (T.B.-E., C.S., M.M., M.S., S.A.S.), German Center for Vertigo and Balance Disorders (T.B.-E., D.N., M.S.), and Institute of Radiology (D.A.C.), Ludwig Maximilians University, University Hospital Grosshadern, Munich, Germany; Departments of Neurology (T.B.-E.) and Nuclear Medicine (A.R.), Inselspital, University Hospital Bern, Switzerland; Department of Nuclear Medicine (M.B., A.R.), University Hospital, LMU Munich; Department of Neurology (B.M.), University Hospital, Schleswig-Holstein, Kiel Campus; Institute for Medical Genetics and Genomics (S.B.-W.), Tübingen, Germany; Center for Neurodegenerative Science (C. K.-R., J.B.), Van Andel Research Institute, Grand Rapids, MI; Munich Cluster for Systems Neurology (SyNergy) (A.R.), Munich, Germany; and University of Bern (A.R.), Switzerland.
Kun-Rodrigues C; From the Department of Neurology (T.B.-E., C.S., M.M., M.S., S.A.S.), German Center for Vertigo and Balance Disorders (T.B.-E., D.N., M.S.), and Institute of Radiology (D.A.C.), Ludwig Maximilians University, University Hospital Grosshadern, Munich, Germany; Departments of Neurology (T.B.-E.) and Nuclear Medicine (A.R.), Inselspital, University Hospital Bern, Switzerland; Department of Nuclear Medicine (M.B., A.R.), University Hospital, LMU Munich; Department of Neurology (B.M.), University Hospital, Schleswig-Holstein, Kiel Campus; Institute for Medical Genetics and Genomics (S.B.-W.), Tübingen, Germany; Center for Neurodegenerative Science (C. K.-R., J.B.), Van Andel Research Institute, Grand Rapids, MI; Munich Cluster for Systems Neurology (SyNergy) (A.R.), Munich, Germany; and University of Bern (A.R.), Switzerland.
Bras J; From the Department of Neurology (T.B.-E., C.S., M.M., M.S., S.A.S.), German Center for Vertigo and Balance Disorders (T.B.-E., D.N., M.S.), and Institute of Radiology (D.A.C.), Ludwig Maximilians University, University Hospital Grosshadern, Munich, Germany; Departments of Neurology (T.B.-E.) and Nuclear Medicine (A.R.), Inselspital, University Hospital Bern, Switzerland; Department of Nuclear Medicine (M.B., A.R.), University Hospital, LMU Munich; Department of Neurology (B.M.), University Hospital, Schleswig-Holstein, Kiel Campus; Institute for Medical Genetics and Genomics (S.B.-W.), Tübingen, Germany; Center for Neurodegenerative Science (C. K.-R., J.B.), Van Andel Research Institute, Grand Rapids, MI; Munich Cluster for Systems Neurology (SyNergy) (A.R.), Munich, Germany; and University of Bern (A.R.), Switzerland.
Rominger A; From the Department of Neurology (T.B.-E., C.S., M.M., M.S., S.A.S.), German Center for Vertigo and Balance Disorders (T.B.-E., D.N., M.S.), and Institute of Radiology (D.A.C.), Ludwig Maximilians University, University Hospital Grosshadern, Munich, Germany; Departments of Neurology (T.B.-E.) and Nuclear Medicine (A.R.), Inselspital, University Hospital Bern, Switzerland; Department of Nuclear Medicine (M.B., A.R.), University Hospital, LMU Munich; Department of Neurology (B.M.), University Hospital, Schleswig-Holstein, Kiel Campus; Institute for Medical Genetics and Genomics (S.B.-W.), Tübingen, Germany; Center for Neurodegenerative Science (C. K.-R., J.B.), Van Andel Research Institute, Grand Rapids, MI; Munich Cluster for Systems Neurology (SyNergy) (A.R.), Munich, Germany; and University of Bern (A.R.), Switzerland.
Ninov D; From the Department of Neurology (T.B.-E., C.S., M.M., M.S., S.A.S.), German Center for Vertigo and Balance Disorders (T.B.-E., D.N., M.S.), and Institute of Radiology (D.A.C.), Ludwig Maximilians University, University Hospital Grosshadern, Munich, Germany; Departments of Neurology (T.B.-E.) and Nuclear Medicine (A.R.), Inselspital, University Hospital Bern, Switzerland; Department of Nuclear Medicine (M.B., A.R.), University Hospital, LMU Munich; Department of Neurology (B.M.), University Hospital, Schleswig-Holstein, Kiel Campus; Institute for Medical Genetics and Genomics (S.B.-W.), Tübingen, Germany; Center for Neurodegenerative Science (C. K.-R., J.B.), Van Andel Research Institute, Grand Rapids, MI; Munich Cluster for Systems Neurology (SyNergy) (A.R.), Munich, Germany; and University of Bern (A.R.), Switzerland.
Strupp M; From the Department of Neurology (T.B.-E., C.S., M.M., M.S., S.A.S.), German Center for Vertigo and Balance Disorders (T.B.-E., D.N., M.S.), and Institute of Radiology (D.A.C.), Ludwig Maximilians University, University Hospital Grosshadern, Munich, Germany; Departments of Neurology (T.B.-E.) and Nuclear Medicine (A.R.), Inselspital, University Hospital Bern, Switzerland; Department of Nuclear Medicine (M.B., A.R.), University Hospital, LMU Munich; Department of Neurology (B.M.), University Hospital, Schleswig-Holstein, Kiel Campus; Institute for Medical Genetics and Genomics (S.B.-W.), Tübingen, Germany; Center for Neurodegenerative Science (C. K.-R., J.B.), Van Andel Research Institute, Grand Rapids, MI; Munich Cluster for Systems Neurology (SyNergy) (A.R.), Munich, Germany; and University of Bern (A.R.), Switzerland.
Schneider SA; From the Department of Neurology (T.B.-E., C.S., M.M., M.S., S.A.S.), German Center for Vertigo and Balance Disorders (T.B.-E., D.N., M.S.), and Institute of Radiology (D.A.C.), Ludwig Maximilians University, University Hospital Grosshadern, Munich, Germany; Departments of Neurology (T.B.-E.) and Nuclear Medicine (A.R.), Inselspital, University Hospital Bern, Switzerland; Department of Nuclear Medicine (M.B., A.R.), University Hospital, LMU Munich; Department of Neurology (B.M.), University Hospital, Schleswig-Holstein, Kiel Campus; Institute for Medical Genetics and Genomics (S.B.-W.), Tübingen, Germany; Center for Neurodegenerative Science (C. K.-R., J.B.), Van Andel Research Institute, Grand Rapids, MI; Munich Cluster for Systems Neurology (SyNergy) (A.R.), Munich, Germany; and University of Bern (A.R.), Switzerland. .
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Źródło :
Neurology [Neurology] 2020 Apr 21; Vol. 94 (16), pp. e1702-e1715. Date of Electronic Publication: 2020 Mar 31.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Heterozygote*
Hepatomegaly/*diagnostic imaging
Intracellular Signaling Peptides and Proteins/*genetics
Ocular Motility Disorders/*physiopathology
Splenomegaly/*diagnostic imaging
Adult ; Aged ; Cholestanols/blood ; Cognitive Dysfunction/epidemiology ; Cognitive Dysfunction/physiopathology ; Eye Movement Measurements ; Family ; Female ; Hepatomegaly/epidemiology ; Hepatomegaly/genetics ; Hexosaminidases/blood ; Humans ; Male ; Middle Aged ; Mutation ; Niemann-Pick Disease, Type C/diagnostic imaging ; Niemann-Pick Disease, Type C/genetics ; Niemann-Pick Disease, Type C/physiopathology ; Niemann-Pick Disease, Type C/psychology ; Ocular Motility Disorders/epidemiology ; Ocular Motility Disorders/genetics ; Olfaction Disorders/epidemiology ; Phenotype ; Positron-Emission Tomography ; REM Sleep Behavior Disorder/epidemiology ; Splenomegaly/epidemiology ; Splenomegaly/genetics ; Ultrasonography
Czasopismo naukowe
Tytuł :
Hypertrophic cardiomyopathy in myosin-binding protein C ( MYBPC3 ) Icelandic founder mutation carriers.
Autorzy :
Adalsteinsdottir B; Department of Medicine, University of Iceland, Reykjavik, Iceland.; Division of Cardiology, Landspitali - The National University Hospital of Iceland, Reykjavik, Iceland.
Burke M; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.; Cardiology Division, Emory University School of Medicine, Atlanta, Georgia, USA.
Maron BJ; Hypertrophic Cardiomyopathy Center, Division of Cardiology, Tufts Medical Center, Boston, Massachusetts, USA.
Danielsen R; Division of Cardiology, Landspitali - The National University Hospital of Iceland, Reykjavik, Iceland.
Lopez B; Program of Cardiovascular Diseases, Centre for Applied Medical Research, University of Navarra, Pamplona, Navarra, Spain.; Carlos III Health Institute, Madrid, Spain.
Diez J; Program of Cardiovascular Diseases, Centre for Applied Medical Research, University of Navarra, Pamplona, Navarra, Spain.; Carlos III Health Institute, Madrid, Spain.
Jarolim P; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Seidman J; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
Seidman CE; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.; Cardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Howard Hughes Medical Institute, Boston, Massachusetts, USA.
Ho CY; Cardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Gunnarsson GT; Department of Medicine, University of Iceland, Reykjavik, Iceland.; Department of Medicine, Akureyri Hospital, Akureyri, Iceland.
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Źródło :
Open heart [Open Heart] 2020 Apr 05; Vol. 7 (1), pp. e001220. Date of Electronic Publication: 2020 Apr 05 (Print Publication: 2020).
Typ publikacji :
Journal Article; Observational Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Founder Effect*
Heterozygote*
Mutation*
Cardiomyopathy, Hypertrophic/*genetics
Carrier Proteins/*genetics
Sarcomeres/*genetics
Ventricular Function, Left/*genetics
Ventricular Remodeling/*genetics
Adult ; Age of Onset ; Aged ; Cardiomyopathy, Hypertrophic/diagnosis ; Cardiomyopathy, Hypertrophic/physiopathology ; Cross-Sectional Studies ; Female ; Genetic Predisposition to Disease ; Hemodynamics/genetics ; Heredity ; Humans ; Iceland ; Male ; Middle Aged ; Pedigree ; Penetrance ; Phenotype ; Risk Factors
Czasopismo naukowe
Tytuł :
Defining Individual-Level Genetic Diversity and Similarity Profiles.
Autorzy :
Ma ZS; Computational Biology and Medical Ecology Lab, State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, 650223, China. .; Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming, 650223, China. .
Li L; Computational Biology and Medical Ecology Lab, State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, 650223, China.
Zhang YP; Molecular Evolution and Genome Diversity Lab, State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, 650223, China. .; Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming, 650223, China. .
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Źródło :
Scientific reports [Sci Rep] 2020 Apr 02; Vol. 10 (1), pp. 5805. Date of Electronic Publication: 2020 Apr 02.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Heterozygote*
Models, Genetic*
Polymorphism, Single Nucleotide*
Genome-Wide Association Study/*methods
Entropy ; Genome ; Humans
Czasopismo naukowe
Tytuł :
Compound heterozygosity of a silent beta-thalassemia mutation at the 3'-untranslated region (HBB: c.*132 C>T) and beta-zero thalassemia results in thalassemia intermedia.
Autorzy :
Sripusanapan A; Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
Phusua A; Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
Fanhchaksai K; Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
Charoenkwan P; Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
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Źródło :
Pediatric blood & cancer [Pediatr Blood Cancer] 2020 Apr; Vol. 67 (4), pp. e28157. Date of Electronic Publication: 2020 Jan 13.
Typ publikacji :
Letter
MeSH Terms :
Heterozygote*
Mutation*
3' Untranslated Regions/*genetics
beta-Globins/*genetics
beta-Thalassemia/*genetics
beta-Thalassemia/*pathology
Child, Preschool ; Female ; Humans ; Prognosis
Opinia redakcyjna
Tytuł :
Trajectory of lobar atrophy in asymptomatic and symptomatic GRN mutation carriers: a longitudinal MRI study.
Autorzy :
Chen Q; Department of Neurology, West China Hospital of Sichuan University, Chengdu, Sichuan, China; Department of Radiology, Mayo Clinic, Rochester, MN, USA.
Boeve BF; Department of Neurology, Mayo Clinic, Rochester, MN, USA; Alzheimer's Disease Research Center, Mayo Clinic, Rochester, MN, USA.
Senjem M; Department of Radiology, Mayo Clinic, Rochester, MN, USA.
Tosakulwong N; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Lesnick T; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Brushaber D; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA; Alzheimer's Disease Research Center, Mayo Clinic, Rochester, MN, USA.
Dheel C; Department of Neurology, Mayo Clinic, Rochester, MN, USA; Alzheimer's Disease Research Center, Mayo Clinic, Rochester, MN, USA.
Fields J; Department of Psychology and Psychiatry, Mayo Clinic, Rochester, MN, USA.
Forsberg L; Department of Neurology, Mayo Clinic, Rochester, MN, USA; Alzheimer's Disease Research Center, Mayo Clinic, Rochester, MN, USA.
Gavrilova R; Department of Clinical Genomic and Neurology, Mayo Clinic, Rochester, MN, USA.
Gearhart D; Department of Neurology, Mayo Clinic, Rochester, MN, USA; Alzheimer's Disease Research Center, Mayo Clinic, Rochester, MN, USA.
Graff-Radford J; Department of Neurology, Mayo Clinic, Rochester, MN, USA; Alzheimer's Disease Research Center, Mayo Clinic, Rochester, MN, USA.
Graff-Radford N; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
Jack CR Jr; Department of Radiology, Mayo Clinic, Rochester, MN, USA; Alzheimer's Disease Research Center, Mayo Clinic, Rochester, MN, USA.
Jones D; Department of Neurology, Mayo Clinic, Rochester, MN, USA; Alzheimer's Disease Research Center, Mayo Clinic, Rochester, MN, USA.
Knopman D; Department of Neurology, Mayo Clinic, Rochester, MN, USA; Alzheimer's Disease Research Center, Mayo Clinic, Rochester, MN, USA.
Kremers WK; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Lapid M; Department of Psychology and Psychiatry, Mayo Clinic, Rochester, MN, USA.
Rademakers R; Alzheimer's Disease Research Center, Mayo Clinic, Rochester, MN, USA; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Ramos EM; Department of Psychiatry, David Geffen School of Medicine University of California Los Angeles, Los Angeles, CA, USA.
Syrjanen J; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Boxer AL; Memory and Aging Center, University of California San Francisco, San Francisco, CA, USA.
Rosen H; Memory and Aging Center, University of California San Francisco, San Francisco, CA, USA.
Wszolek ZK; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
Kantarci K; Department of Radiology, Mayo Clinic, Rochester, MN, USA; Alzheimer's Disease Research Center, Mayo Clinic, Rochester, MN, USA. Electronic address: .
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Źródło :
Neurobiology of aging [Neurobiol Aging] 2020 Apr; Vol. 88, pp. 42-50. Date of Electronic Publication: 2019 Dec 12.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Heterozygote*
Loss of Function Mutation*
Frontotemporal Lobar Degeneration/*diagnostic imaging
Frontotemporal Lobar Degeneration/*genetics
Magnetic Resonance Imaging/*methods
Progranulins/*genetics
Temporal Lobe/*diagnostic imaging
Temporal Lobe/*pathology
Adult ; Asymptomatic Diseases ; Atrophy ; Female ; Frontotemporal Lobar Degeneration/pathology ; Humans ; Male ; Middle Aged ; Young Adult
Czasopismo naukowe
Tytuł :
Cystic fibrosis carriers are at increased risk for a wide range of cystic fibrosis-related conditions.
Autorzy :
Miller AC; Department of Epidemiology, College of Public Health, University of Iowa, Iowa City, IA 52242.
Comellas AP; Department of Internal Medicine, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242.
Hornick DB; Department of Internal Medicine, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242.
Stoltz DA; Department of Internal Medicine, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242.; Department of Molecular Physiology and Biophysics, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242.; Pappajohn Biomedical Institute, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242.; Department of Biomedical Engineering, College of Engineering, University of Iowa, Iowa City, IA 52242.
Cavanaugh JE; Department of Biostatistics, College of Public Health, University of Iowa, Iowa City, IA 52242.
Gerke AK; Department of Internal Medicine, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242.
Welsh MJ; Department of Internal Medicine, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242; .; Department of Molecular Physiology and Biophysics, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242.; Pappajohn Biomedical Institute, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242.; Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242.
Zabner J; Department of Internal Medicine, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242.; Pappajohn Biomedical Institute, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242.
Polgreen PM; Department of Epidemiology, College of Public Health, University of Iowa, Iowa City, IA 52242; .; Department of Internal Medicine, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242.
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Źródło :
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2020 Jan 21; Vol. 117 (3), pp. 1621-1627. Date of Electronic Publication: 2019 Dec 27.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Carrier Screening*
Heterozygote*
Mutation*
Cystic Fibrosis/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Cystic Fibrosis/epidemiology ; Female ; Genetic Testing ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Molecular Epidemiology ; Prevalence ; Retrospective Studies ; United States ; Young Adult
Czasopismo naukowe
Tytuł :
Inhibition deficits are modulated by age and CGG repeat length in carriers of the FMR1 premutation allele who are mothers of children with fragile X syndrome.
Autorzy :
Klusek J; Department of Communication Sciences and Disorders, University of South Carolina, 1705 College Street, Columbia, SC 29208, USA.
Hong J; Waisman Center, University of Wisconsin-Madison, 1500 Highland Ave, Madison, WI 53705, USA.
Sterling A; Waisman Center, University of Wisconsin-Madison, 1500 Highland Ave, Madison, WI 53705, USA; Department of Communication Sciences and Disorders, University of Wisconsin-Madison, 381 Goodnight Hall, 1975 Willow Drive, Madison, WI 53706, USA.
Berry-Kravis E; Department of Pediatrics, Neurological Sciences and Biochemistry, Rush University Medical Center, 1725 West Harrison Street, Suite 718, Chicago, IL 60612, USA.
Mailick MR; Waisman Center, University of Wisconsin-Madison, 1500 Highland Ave, Madison, WI 53705, USA. Electronic address: .
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Źródło :
Brain and cognition [Brain Cogn] 2020 Mar; Vol. 139, pp. 105511. Date of Electronic Publication: 2019 Dec 27.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Executive Function*
Heterozygote*
Inhibition, Psychological*
Trinucleotide Repeat Expansion*
Fragile X Mental Retardation Protein/*genetics
Adult ; Age Factors ; Aged ; Aged, 80 and over ; Alleles ; Female ; Fragile X Syndrome/genetics ; Fragile X Syndrome/psychology ; Genotype ; Humans ; Middle Aged ; Mothers
Czasopismo naukowe
Tytuł :
Genomic analyses reveal moderate levels of ploidy, high heterozygosity and structural variations in a Colombian isolate of Leishmania (Leishmania) amazonensis.
Autorzy :
Patino LH; Grupo de Investigaciones Microbiológicas-UR (GIMUR), Departamento de Biología, Facultad de Ciencias Naturales y Matemáticas, Universidad del Rosario, Bogotá, Colombia.
Muskus C; Programa de Control y Estudio de Enfermedades Tropicales (PECET), Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.
Muñoz M; Grupo de Investigaciones Microbiológicas-UR (GIMUR), Departamento de Biología, Facultad de Ciencias Naturales y Matemáticas, Universidad del Rosario, Bogotá, Colombia.
Ramírez JD; Grupo de Investigaciones Microbiológicas-UR (GIMUR), Departamento de Biología, Facultad de Ciencias Naturales y Matemáticas, Universidad del Rosario, Bogotá, Colombia.. Electronic address: .
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Źródło :
Acta tropica [Acta Trop] 2020 Mar; Vol. 203, pp. 105296. Date of Electronic Publication: 2019 Dec 10.
Typ publikacji :
Journal Article
MeSH Terms :
Genome, Protozoan*
Heterozygote*
Ploidies*
Leishmania/*genetics
Colombia ; DNA Copy Number Variations ; Humans
Czasopismo naukowe
Tytuł :
Disclosure of Genetic Risk Revealed in a Research Study.
Autorzy :
Castellanos A
Phimister EG
Stefánsson K
Clayton EW
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Źródło :
The New England journal of medicine [N Engl J Med] 2020 Feb 20; Vol. 382 (8), pp. 763-765.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Duty to Warn*
Heterozygote*
Research Subjects*
Confidentiality/*ethics
Disclosure/*ethics
Data Anonymization ; Databases, Genetic ; Ethics Committees, Research ; Female ; Genes, BRCA1 ; Genes, BRCA2 ; Humans ; Mutation
Czasopismo naukowe
Tytuł :
Fertility preservation in BRCA mutation carriers-efficacy and safety issues: a review.
Autorzy :
Zhang X; Department of Clinical Medicine, Medical College of Soochow University, Ren Ai Road 199, Suzhou Industrial Park, Suzhou, 215123, China.
Niu J; Department of Clinical Medicine, Medical College of Soochow University, Ren Ai Road 199, Suzhou Industrial Park, Suzhou, 215123, China.
Che T; Laboratory of Precision Medicine and Translational Medicine, Suzhou Hospital Affiliated to Nanjing Medical University, Suzhou Science and Technology Town Hospital, Suzhou, 215153, China.
Zhu Y; Department of Immunology, Medical College of Soochow University, Ren Ai Road 199, Suzhou Industrial Park, Suzhou, 215123, China.
Zhang H; Department of Orthopedics, the First Affiliated Hospital of Soochow University, Soochow University, Suzhou, 215006, China.
Qu J; Department of Cell Biology, Medical College of Soochow University, Ren Ai Road 199, Suzhou Industrial Park, Suzhou, 215123, China. .
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Źródło :
Reproductive biology and endocrinology : RB&E [Reprod Biol Endocrinol] 2020 Feb 18; Vol. 18 (1), pp. 11. Date of Electronic Publication: 2020 Feb 18.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Heterozygote*
BRCA2 Protein/*genetics
Fertility Preservation/*methods
Mutation/*genetics
Ovary/*physiology
Ubiquitin-Protein Ligases/*genetics
Cryopreservation/methods ; Female ; Humans ; Infertility, Female/genetics ; Infertility, Female/therapy ; Oocyte Retrieval/methods ; Pregnancy
Czasopismo naukowe

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