Clinical and genetic characterization of individuals with predicted deleterious

Autor: Kirsten E, Craddock, Volkan, Okur, Ashley, Wilson, Erica H, Gerkes, Keri, Ramsey, Jennifer M, Heeley, Jane, Juusola, Antonio, Vitobello, Marie-Noelle Bonnet, Dupeyron, Laurence, Faivre, Wendy K, Chung

Publikováno v: Cold Spring Harbor Molecular Case Studies

Heterozygous deleterious variants in PHIP have been associated with behavioral problems, intellectual disability/developmental delay, obesity/overweight, and dysmorphic features (BIDOD syndrome). We report an additional 10 individuals with pleckstrin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2cd2a9ed6f095aa34ff52d4eba439686
https://pubmed.ncbi.nlm.nih.gov/31167805

Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype

Autor: Daryl Waggott, Annika M. Dries, Jonathan A. Bernstein, Magdalena Walkiewicz, Euan A. Ashley, Matthew T. Wheeler, Diane B. Zastrow, Liliana Fernandez, Paul G. Fisher, Ellyn Farrelly, Jennefer N. Kohler, Patricia A. Zornio, Christine M. Eng, Melanie A. Manning

Publikováno v: Cold Spring Harbor Molecular Case Studies

Here we describe a patient who presented with a history of congenital diaphragmatic hernia, inguinal hernia, and recurrent umbilical hernia. She also has joint laxity, hypotonia, and dysmorphic features. A unifying diagnosis was not identified based

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9670e42ac306ad1719840f944fa3e3ab
https://www.ncbi.nlm.nih.gov/pubmed/28050602

Clinical and genetic characterization of individuals with predicted deleterious PHIP variants.

Autor: Craddock KE; Vagelos College of Physicians and Surgeons, New York, New York 10032, USA., Okur V; Department of Pediatrics, Columbia University, New York, New York 10032, USA., Wilson A; Department of Pediatrics, Columbia University, New York, New York 10032, USA., Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, 9713 D2, Netherlands., Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona 85012, USA., Heeley JM; Mercy Clinic-Kids Genetics, Mercy Children's Hospital, St. Louis, Missouri 63141, USA., Juusola J; GeneDx, Gaithersburg, Maryland, 20877, USA., Vitobello A; Centre de Reference Anomalies of the Developpement et Syndromes Malformatifs, Dijon University Hospital, Dijon, 21079, France., Dupeyron MB; Hospital of Valence, Genetic Consultations, Valence, 26000, France., Faivre L; Centre de Reference Anomalies of the Developpement et Syndromes Malformatifs, Dijon University Hospital, Dijon, 21079, France., Chung WK; Department of Pediatrics, Columbia University, New York, New York 10032, USA.; Department of Medicine, Columbia University, New York, New York 10032, USA.

Publikováno v: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2019 Aug 01; Vol. 5 (4). Date of Electronic Publication: 2019 Aug 01 (Print Publication: 2019).

Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.

Autor: Zastrow DB; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA., Zornio PA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA., Dries A; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA., Kohler J; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA., Fernandez L; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA., Waggott D; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA., Walkiewicz M; Baylor Miraca Genetics Laboratories, Houston, Texas 77021-2024, USA., Eng CM; Baylor Miraca Genetics Laboratories, Houston, Texas 77021-2024, USA., Manning MA; Department of Pathology, Stanford School of Medicine, Stanford, California 94305, USA.; Department of Pediatrics, Stanford School of Medicine, Stanford, California 94305, USA., Farrelly E; Lucille Packard Children's Hospital Stanford, Palo Alto, California 94304, USA., Fisher PG; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Department of Pediatrics, Stanford School of Medicine, Stanford, California 94305, USA.; Department of Neurology, Stanford School of Medicine, Stanford, California 94304, USA., Ashley EA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.; Department of Genetics, Stanford School of Medicine, Stanford, California 94305, USA., Bernstein JA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Department of Pediatrics, Stanford School of Medicine, Stanford, California 94305, USA.; Lucille Packard Children's Hospital Stanford, Palo Alto, California 94304, USA., Wheeler MT; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.

Publikováno v: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2017 Jan; Vol. 3 (1), pp. a001388.