✦ LIBER ✦

Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family

✍ Scribed by Tomoaki Ohata; A. Koizumi; Tsuyoshi Kayo; Yutaka Shoji; Arata Watanabe; Katsumi Monoh; Koichiro Higashi; Seiki Ito; Osamu Ogawa; Yasuhiko Wada; Goro Takada

Publisher: Springer
Year: 1998
Tongue: English
Weight: 107 KB
Volume: 103
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s004390050852

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of a novel frameshift mut

Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss

✍ Abdelaziz Tlili; Ilhem Charfedine; Imed Lahmar; Zaineb Benzina; Ben Amor Mohamed 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 65 KB 👁 1 views

## Communicated by Henrik Dahl Approximately 80% of hereditary hearing loss is non-syndromic. Non-syndromic deafness is the most genetically heterogeneous trait. The most common and severe form of hereditary hearing impairment is autosomal recessive non-syndromic hearing loss (ARNSHL), accounting f

Metoclopramide in a patient with renal f

Metoclopramide in a patient with renal failure may be an increased risk of neuroleptic malignant syndrome

✍ Y. Fujita; T. Yasukawa; M. Mihira; T. Sasaki; S. Yokoya 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 113 KB

Progressive high frequency hearing loss:

Progressive high frequency hearing loss: An additional feature in the syndrome of congenital adrenal hypoplasia and gonadotrophin deficiency

✍ M. Zachmann; E. Fuchs; A. Prader 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 294 KB

No evidence of an increased mortality ri

No evidence of an increased mortality risk associated with low levels of glycated haemoglobin in a non-diabetic UK population

✍ R. Pfister; S. J. Sharp; R. Luben; K.-T. Khaw; N. J. Wareham 📂 Article 📅 2011 🏛 Springer 🌐 English ⚖ 142 KB

Deletion of an enhancer nearDLX5andDLX6i

Deletion of an enhancer nearDLX5andDLX6in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35)

✍ Kerry K. Brown; Jacob A. Reiss; Kate Crow; Heather L. Ferguson; Chantal Kelly; B 📂 Article 📅 2009 🏛 Springer 🌐 English ⚖ 678 KB

A temporary increase of down syndrome am

A temporary increase of down syndrome among births of young mothers in Norway: An effect of risk unrelated to maternal age?

✍ Dr. Rolv Terje Lie; Ivar Heuch; Lorentz M. Irgens 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 789 KB

The Medical Birth Registry of Norway carries out a population-based surveillance of birth defects on a routine basis. An increased proportion of newborn with Down syndrome was seen among children of young mothers during 1985-1986. Three alternative explanations were considered: a first representing