✦ LIBER ✦

Genetic features of hearing loss associated with ear anomalies:PDSandEYA1mutation analysis

✍ Scribed by A. Namba; S. Abe; H. Shinkawa; W. J. Kimberling; S. Usami

Book ID: 106252657
Publisher: Nature Publishing Group
Year: 2001
Tongue: English
Weight: 48 KB
Volume: 46
Category: Article
ISSN: 1435-232X
DOI: 10.1007/s100380170033

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Genetic and Clinical Features of Sensori

Genetic and Clinical Features of Sensorineural Hearing Loss Associated With the 1555 Mitochondrial Mutation

✍ Shin-ichi Usami; Satoko Abe; Miyo Kasai; Hideichi Shinkawa; Benjamin Moeller; Ju 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 732 KB

Phylogenetic analysis of mitochondrial D

Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation

✍ Abe, Satoko; Usami, Shin-ichi; Shinkawa, Hideichi; Weston, Mike D; Overbeck, Lar 📂 Article 📅 1998 🏛 Nature Publishing Group 🌐 English ⚖ 97 KB

Frequency and clinical features of patie

Frequency and clinical features of patients with sensorineural hearing loss associated with the A3243G mutation of the mitochondrial DNA in otorhinolaryngic clinics

✍ H. Nagata; K. Kumahara; T. Tomemori; Y. Arimoto; K. Isoyama; K. Yoshida; A. Konn 📂 Article 📅 2001 🏛 Nature Publishing Group 🌐 English ⚖ 75 KB

Girl with accelerated growth, hearing lo

Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13.1q13.2)

✍ Fujita, Yasuko; Mochizuki, Daishi; Mori, Yosuke; Nakamoto, Natsue; Kobayashi, Ma 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 51 KB 👁 3 views

We report on an 18-month-old Japanese girl with 46,XX,del( 22)(q13.1q13.2). To our knowledge, this is the first report of a case of interstitial deletion of a 22q13.1-q13.2 segment. Clinical features included hearing loss accompanied by inner ear anomalies, hypotonia and minor anomalies, such as a l

Analysis of Gene Polymorphisms Associate

Analysis of Gene Polymorphisms Associated with K+ Ion Circulation in the Inner Ear of Patients Susceptible and Resistant to Noise-induced Hearing Loss

✍ Malgorzata Pawelczyk; Lut Van Laer; Erik Fransen; Elzbieta Rajkowska; Annelies K 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 294 KB

Molecular analysis of hearing loss assoc

Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a uniqueSLC26A4mutation spectrum

✍ Hao Hu; Lingqian Wu; Yong Feng; Qian Pan; Zhigao Long; Juan Li; Heping Dai; Kun 📂 Article 📅 2007 🏛 Nature Publishing Group 🌐 English ⚖ 160 KB