Zobrazeno 1 - 10
of 13
pro vyhledávání: '"clinodactyly of the 5th finger"'
Autor:
Kayla J, Muirhead, Amanda R, Clause, Zinayida, Schlachetzki, Holly, Dubbs, Denise L, Perry, R Tanner, Hagelstrom, Ryan J, Taft, Adeline, Vanderver
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Undiagnosed genetic disease imposes a significant burden on families and health-care resources, especially in cases with a complex phenotype. Here we present a child with suspected leukodystrophy in the context of additional features, including heari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6fc61c19ce65632c6e463dec057fce38
https://pubmed.ncbi.nlm.nih.gov/34737199
https://pubmed.ncbi.nlm.nih.gov/34737199
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
https://pubmed.ncbi.nlm.nih.gov/31167805
Autor:
Daniel C, Koboldt, Theresa, Mihalic Mosher, Benjamin J, Kelly, Emily, Sites, Dennis, Bartholomew, Scott E, Hickey, Kim, McBride, Richard K, Wilson, Peter, White
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Two sisters (ages 16 yr and 15 yr) have been followed by our clinical genetics team for several years. Both girls have severe intellectual disability, hypotonia, seizures, and distinctive craniofacial features. The parents are healthy and have no oth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e26a2c565704dcf6fee9d5b3e022bb15
https://pubmed.ncbi.nlm.nih.gov/29305346
https://pubmed.ncbi.nlm.nih.gov/29305346
Autor:
Amber, Hildreth, Kristen, Wigby, Shimul, Chowdhury, Shareef, Nahas, Jaime, Barea, Paulina, Ordonez, Sergey, Batalov, David, Dimmock, Stephen, Kingsmore
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Niemann–Pick type C disease (NPC; OMIM #257220) is an inborn error of intracellular cholesterol trafficking. It is an autosomal recessive disorder caused predominantly by mutations in NPC1. Although characterized as a progressive neurological disor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::41bd91c8bf509fa25152e7e987a0b4e4
https://pubmed.ncbi.nlm.nih.gov/28550066
https://pubmed.ncbi.nlm.nih.gov/28550066
Autor:
Annette Maughan, Kai Wang, Janet Malcolmson, Reid J. Robison, Lesa Nelson, David Tegay, Kenneth D. Ward, Gholson J. Lyon, Robert Kleyner, Glenn Maughan
Publikováno v:
Cold Spring Harbor Molecular Case Studies
KBG syndrome is a rare autosomal dominant genetic condition characterized by neurological involvement and distinct facial, hand, and skeletal features. More than 70 cases have been reported; however, it is likely that KBG syndrome is underdiagnosed b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3eef001d125eb36e50bad17db92b6cd
http://europepmc.org/articles/PMC5111005
http://europepmc.org/articles/PMC5111005
Akademický článek
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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Muirhead KJ; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA., Clause AR; Illumina Clinical Services Laboratory, Illumina Inc., San Diego, California 92122, USA., Schlachetzki Z; Illumina Clinical Services Laboratory, Illumina Inc., San Diego, California 92122, USA., Dubbs H; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA., Perry DL; Illumina Clinical Services Laboratory, Illumina Inc., San Diego, California 92122, USA., Hagelstrom RT; Illumina Clinical Services Laboratory, Illumina Inc., San Diego, California 92122, USA., Taft RJ; Illumina Clinical Services Laboratory, Illumina Inc., San Diego, California 92122, USA., Vanderver A; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Publikováno v:
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2021 Dec 09; Vol. 7 (6). Date of Electronic Publication: 2021 Dec 09 (Print Publication: 2021).
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).
Autor:
Koboldt DC; Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43205, USA., Mihalic Mosher T; Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Kelly BJ; Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Sites E; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Bartholomew D; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43205, USA.; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Hickey SE; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43205, USA.; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., McBride K; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43205, USA.; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Center for Cardiovascular and Pulmonary Research, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Wilson RK; Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43205, USA., White P; Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University, Columbus, Ohio 43205, USA.
Publikováno v:
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2018 Jun 01; Vol. 4 (3). Date of Electronic Publication: 2018 Jun 01 (Print Publication: 2018).