Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Akdemir ZHC"'
Autor:
Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, de Souza CFM, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Akdemir ZHC, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G
GNB5 encodes the G protein beta subunit 5 and is involved in inhibitory G protein signaling. Here, we report mutations in GNB5 that are associated with heart-rate disturbance, eye disease, intellectual disability, gastric problems, hypotonia, and sei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::79b2ae479c6aac9627bfad0b2f0289cb
http://hdl.handle.net/11588/873942
http://hdl.handle.net/11588/873942
Autor:
Farria AT; Department of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Smithville, Texas 78957, USA.; The Center for Cancer Epigenetics, The University of Texas MD Anderson Cancer Center, Smithville, Texas 78957, USA.; Program in Genetics and Epigenetics, The University of Texas MD Anderson Cancer Center, UT Health Graduate School of Biomedical Sciences, Houston, Texas 77030, USA., Mustachio LM; Department of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Smithville, Texas 78957, USA.; The Center for Cancer Epigenetics, The University of Texas MD Anderson Cancer Center, Smithville, Texas 78957, USA., Akdemir ZHC; Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA., Dent SYR; Department of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Smithville, Texas 78957, USA.; The Center for Cancer Epigenetics, The University of Texas MD Anderson Cancer Center, Smithville, Texas 78957, USA.
Publikováno v:
Oncotarget [Oncotarget] 2019 Oct 08; Vol. 10 (56), pp. 5847-5858. Date of Electronic Publication: 2019 Oct 08 (Print Publication: 2019).
Autor:
Wiszniewski W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. wiszniew@ohsu.edu.; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland. wiszniew@ohsu.edu.; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA. wiszniew@ohsu.edu., Gawlinski P; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Gambin T; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.; Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland., Bekiesinska-Figatowska M; Department of Diagnostic Imaging, Institute of Mother and Child, Warsaw, Poland., Obersztyn E; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Antczak-Marach D; Clinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland., Akdemir ZHC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Harel T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Jurek M; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Sobecka K; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Nowakowska B; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Kruk M; Clinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland., Terczynska I; Clinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland., Goszczanska-Ciuchta A; Clinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland., Rudzka-Dybala M; Clinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland., Jamroz E; School of Medicine in Katowice, Department of Pediatrics and Developmental Age Neurology, Medical University of Silesia, Katowice, Poland., Pyrkosz A; Department of Medical Genetics, University of Rzeszow, Rzeszow, Poland., Jakubiuk-Tomaszuk A; Department of Pediatric Neurology and Rehabilitation, Medical University of Bialystok, Bialystok, Poland., Iwanowski P; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland., Gieruszczak-Bialek D; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.; Department of Pediatrics, Medical University of Warsaw, Warsaw, Poland., Piotrowicz M; Department of Genetics, Polish Mother's Memorial Hospital - Research Institute, Lodz, Poland., Sasiadek M; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland., Kochanowska I; Individual Medical Practice in Pediatric Neurology, Szczecin, Poland., Gurda B; Department of Developmental Neurology, Poznan University of Medical Sciences, Poznan, Poland., Steinborn B; Department of Developmental Neurology, Poznan University of Medical Sciences, Poznan, Poland., Dawidziuk M; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Castaneda J; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Wlasienko P; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Bezniakow N; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Hoffman-Zacharska D; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Bal J; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Szczepanik E; Clinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland., Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Human Genetics Center and Institute of Molecular Medicine, University of Texas-Houston Health Science Center, Houston, TX, USA., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2018 Aug; Vol. 26 (8), pp. 1121-1131. Date of Electronic Publication: 2018 Apr 30.
Autor:
Halim D; Department of Clinical Genetics, Erasmus University Medical Center, 3000 CA Rotterdam, the Netherlands., Brosens E; Department of Clinical Genetics, Erasmus University Medical Center, 3000 CA Rotterdam, the Netherlands., Muller F; Biochimie Prenatale, Hôpital Universitaire Robert Debré, 75019 Paris, France., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Childen's Hospital, Houston, TX 77030, USA., Beaudet AL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Childen's Hospital, Houston, TX 77030, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Childen's Hospital, Houston, TX 77030, USA; Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Akdemir ZHC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX 77030, USA., Doukas M; Department of Pathology, Erasmus University Medical Center, 3000 CA Rotterdam, the Netherlands., Stoop HJ; Department of Pathology, Erasmus University Medical Center, 3000 CA Rotterdam, the Netherlands., de Graaf BM; Department of Clinical Genetics, Erasmus University Medical Center, 3000 CA Rotterdam, the Netherlands., Brouwer RWW; Erasmus Center for Biomics, Erasmus Medical Center, 3000 CA Rotterdam, the Netherlands., van Ijcken WFJ; Erasmus Center for Biomics, Erasmus Medical Center, 3000 CA Rotterdam, the Netherlands., Oury JF; Department of Obstetrics and Gynecology, Hôpital Universitaire Robert Debré, 75019 Paris, France., Rosenblatt J; Department of Obstetrics and Gynecology, Hôpital Universitaire Robert Debré, 75019 Paris, France., Burns AJ; Department of Clinical Genetics, Erasmus University Medical Center, 3000 CA Rotterdam, the Netherlands; Stem Cells and Regenerative Medicine, Birth Defects Research Centre, UCL Great Ormond Street Institute of Child Health, University College London, WC1N 1EH London, UK., Tibboel D; Department of Pediatric Surgery, Erasmus University Medical Center, 3000 CA Rotterdam, the Netherlands., Hofstra RMW; Department of Clinical Genetics, Erasmus University Medical Center, 3000 CA Rotterdam, the Netherlands; Stem Cells and Regenerative Medicine, Birth Defects Research Centre, UCL Great Ormond Street Institute of Child Health, University College London, WC1N 1EH London, UK. Electronic address: r.hofstra@erasmusmc.nl., Alves MM; Department of Clinical Genetics, Erasmus University Medical Center, 3000 CA Rotterdam, the Netherlands. Electronic address: m.alves@erasmusmc.nl.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2017 Jul 06; Vol. 101 (1), pp. 123-129. Date of Electronic Publication: 2017 Jun 08.