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Wyświetlanie 1-25 z 52
Tytuł:
Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features.
Autorzy:
Hu J; Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC and Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
Madan-Khetarpal S
Serrano Russi AH
Kochmar S
Deward SJ
Sathanoori M
Surti U
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Źródło:
Genetics research international [Genet Res Int] 2011; Vol. 2011, pp. 185271. Date of Electronic Publication: 2011 Jul 17.
Typ publikacji:
Case Reports
Raport
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review.
Autorzy:
Hu J; Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA.; Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA.
Ou Z; Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA.
Infante E; Department of Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224 USA.
Kochmar SJ; Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA.
Madan-Khetarpal S; Department of Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224 USA.
Hoffner L; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA.
Parsazad S; Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA.
Surti U; Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA.; Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA.; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA.
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Źródło:
Molecular cytogenetics [Mol Cytogenet] 2017 Jun 19; Vol. 10, pp. 24. Date of Electronic Publication: 2017 Jun 19 (Print Publication: 2017).
Typ publikacji:
Case Reports
Raport
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
Autorzy:
Bostwick BL; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA. .
McLean S; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA.
Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Streff HE; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Gripp KW; Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
Blesson A; Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
Powell-Hamilton N; Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
Tusi J; Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
Stevenson DA; Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Farrelly E; Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Hudgins L; Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
Wang X; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
Walkiewicz M; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
McGuire M; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
Andrews MV; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
Hummel M; Department of Pediatrics, Section of Medical Genetics, West Virginia University Health Sciences Center, Morgantown, WV, USA.
Madan-Khetarpal S; Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, PA, USA.
Infante E; Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, PA, USA.
Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Miszalski-Jamka K; Division of Magnetic Resonance Imaging, Silesian Center for Heart Disease, Zabrze, Poland.
Jefferies JL; The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Emrick L; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Nugent KM; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA.
Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Belmont JW; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
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Corporate Authors:
Members of the Undiagnosed Diseases Network
Źródło:
Genome medicine [Genome Med] 2017 Aug 14; Vol. 9 (1), pp. 73. Date of Electronic Publication: 2017 Aug 14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Mutation*
Phenotype*
CDC2 Protein Kinase/*genetics
Face/*abnormalities
Heart Defects, Congenital/*metabolism
Intellectual Disability/*metabolism
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Heart Defects, Congenital/genetics ; Humans ; Infant ; Intellectual Disability/genetics ; Male ; Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-25 z 52

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