Additional clinical manifestations in children with sensorineural hearing loss and biallelicGJB2 mutations: Who should be offeredGJB2 testing?

Autor: Ian D. Krantz, Anna Frangulov, Dinah Yaeger, Jennifer McCallum, Heidi L. Rehm, Margaret A. Kenna, Caroline D. Robson

Publikováno v: American Journal of Medical Genetics Part A. :1560-1566

Sensorineural hearing loss (SNHL), the most common sensory impairment noted at birth, occurs in 3 out of every 1,000 births live births. At least half of congenital SNHL is genetic in origin, with nonsyndromic, or isolated hearing loss, accounting fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b7c05301cd47d70fd198bf4c696e2e2
https://doi.org/10.1002/ajmg.a.31706

Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher?Schinzel (3C) syndrome

Autor: Albert E. Chudley, Ian D. Krantz, Nora Wasserman, Albert Schinzel, Lynn Bason, Agnès Guichet, Annick Toutain, Lori Schneider, Ammini Menon, Ryan Geschwindt, Jorge M. Saraiva, Cheryl DeScipio, Terri L. Young, Patricia G. Wheeler, Fengmin Lu, Marc S. Williams, William E. Dobyns, Lori Jukofsky, Dinah Yaeger, Nancy B. Spinner

Publikováno v: American Journal of Medical Genetics Part A. :3-11

We have identified six children in three families with subtelomeric deletions of 6p25 and a recognizable phenotype consisting of ptosis, posterior embryotoxon, optic nerve abnormalities, mild glaucoma, Dandy-Walker malformation, hydrocephalus, atrial

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2075b45065bd5764cc77ea18364bc535
https://doi.org/10.1002/ajmg.a.30573

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

Autor: Laird G. Jackson, Maninder Kaur, Marcella Devoto, Jennifer McCallum, Cheryl DeScipio, Armand Bottani, Hui Hua Li, Colleen A. Morris, Małgorzata J.M. Nowaczyk, John C. Carey, Arthur D. Lander, Lori Jukofsky, Nora Wasserman, Dinah Yaeger, Ian D. Krantz, Michael J. Bamshad, Anne L. Calof, Shimako Kawauchi, Helga V. Toriello, Eric F. Rappaport, Lynette A. Gillis

Publikováno v: Krantz, ID; McCallum, J; DeScipio, C; Kaur, M; Gillis, LA; Yaeger, D; et al.(2004). Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nature Genetics, 36(6), 631-635. doi: 10.1038/ng1364. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/8rx3s34k

Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited multisystem developmental disorder characterized by growth and cognitive retardation; abnormalities of the upper limbs; gastroesophageal dysfunction; cardiac, ophthalmologic and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23521f35f9fafca70e3350cb6eb05d58
https://doi.org/10.1038/ng1364

Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic

Autor: Jennifer McCallum, Udayan K. Shah, Catherine A. Stolle, William P. Potsic, Lisa P. Soslow, Kathy Lewis, Ian D. Krantz, Dinah Yaeger

Publikováno v: American journal of medical genetics. Part A. 140(8)

Hearing loss (HL) occurs in approximately 2 out of every 1,000 births and is genetic in origin in approximately 50% of cases. This high incidence coupled with the increasing number of genes implicated in HL and the trend toward universal newborn scre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a4b78c53cb2e9e42681245fdd0098f3
https://pubmed.ncbi.nlm.nih.gov/16532460

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome

Autor: Jennifer McCallum, Maninder Kaur, Ian D. Krantz, Laird G. Jackson, Cheryl DeScipio, Marcella Devoto, Nancy B. Spinner, Dinah Yaeger

The Cornelia de Lange syndrome (CdLS) (OMIM# 122470) is a dominantly inherited multisystem developmental disorder. The phenotype consists of characteristic facial features, hirsutism, abnormalities of the upper extremities ranging from subtle changes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2b85b8ce1e522cce016118ba1a9a8ca
http://hdl.handle.net/11573/496526