A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression

Autor: C Le Marechal, R Birkenhäger, Jill L. Elfenbein, Rachel Fisher, S M Da Silva-Costa, Arti Pandya, Edi Lúcia Sartorato, Karen H. Friderici, H Bolz, Eberhard Schneider, G. Van Camp, Richard J.H. Smith, Christian Kubisch, Hela Azaiez, Ellen Wilch, Hannie Kremer, Alessandra Murgia, Thomas Haaf, L. H. Hoefsloot, I del Castillo, Wim Wuyts

Publikováno v: Clinical Genetics, 78, 267-74
Clinical Genetics, 78, 3, pp. 267-74
Clinical genetics
Clinical Genetics
Clinical Genetics, Wiley, 2010, 78 (3), pp.267-274. ⟨10.1111/j.1399-0004.2010.01387.x⟩

Contains fulltext : 87760_1.pdf (author's version ) (Open Access) Contains fulltext : 87760_2.pdf (Publisher’s version ) (Closed access) Eleven affected members of a large German-American family segregating recessively inherited, congenital, non-sy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d81a22f13f414b1582a35773d0e8a9c0
https://doi.org/10.1111/j.1399-0004.2010.01387.x

Sensorineural hearing loss in children and adults with Williams syndrome

Autor: Jill L. Elfenbein, Brenda M. Ryals, Zsolt Urban, Michael L. Netzloff, Jeffrey A. Marler

Publikováno v: American Journal of Medical Genetics Part A. :318-327

Williams syndrome (WS) is a genetic neurodevelopmental disorder, most often accompanied by mild-to-moderate mental retardation. Individuals with WS show unique communication strengths and impairments that are challenging to treat in community, educat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad0cb896166bc54baae65e0c0f3e1441
https://doi.org/10.1002/ajmg.a.30970

A New Locus for Late-Onset, Progressive, Hereditary Hearing Loss DFNA20 Maps to 17q25

Autor: Karen H. Friderici, Sainan Wei, Rachel Fisher, Thomas B. Friedman, Robert J. Morell, Jill L. Elfenbein

Publikováno v: Genomics. 63:1-6

We report the localization of DFNA20, a gene causing dominant, nonsyndromic, progressive hearing loss in a three-generation Midwestern family, to chromosome 17q25. Affected family members show a bilateral, sloping, progressive, sensorineural hearing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3444e0ef0afc6bb7e195019a8f945e4
https://doi.org/10.1006/geno.1999.6058

Oral Communication Skills of Children Who Are Hard of Hearing

Autor: Julia M. Davis, Mary A. Hardin-Jones, Jill L. Elfenbein

Publikováno v: Journal of Speech, Language, and Hearing Research. 37:216-226

Forty children with mild to severe hearing losses were administered a battery of speech and language tasks. The children’s speech was characterized by misarticulation of affricates and fricatives, mild-moderate hoarseness, mild resonance problems,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92ad84c9589dc7024dd710644d752ca7
https://doi.org/10.1044/jshr.3701.216

Measuring the Effects of Head and Neck Support Systems on Signals Transmitted to the Ear

Autor: Jill L. Elfenbein, Logemann Jm

Publikováno v: Ear and Hearing. 14:368-371

Some individuals with motor control problems require head and/or neck support systems to achieve proper positioning in their wheelchairs. Signal transmission to a KEMAR positioned in a wheelchair with three commonly used support systems was evaluated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d5b9f88c335195a5640e82a7a51dedb
https://doi.org/10.1097/00003446-199310000-00007