✦ LIBER ✦

A Novel Aminoterminal Mutation in the KAL-1 Gene in a Large Pedigree with X-Linked Kallmann Syndrome

✍ Scribed by Wen-Xia Gu; James S. Colquhoun-Kerr; Peter Kopp; Hans H. Bode; J.Larry Jameson

Book ID: 115639420
Publisher: Elsevier Science
Year: 1998
Tongue: English
Weight: 74 KB
Volume: 65
Category: Article
ISSN: 1096-7192
DOI: 10.1006/mgme.1998.2732

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A fertile male patient with Kallmann syn

A fertile male patient with Kallmann syndrome and two missense mutations in the KAL1 gene

✍ Shilin Zhang; Tao Wang; Jun Yang; Zhuo Liu; Shaogang Wang; Jihong Liu 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 394 KB

A novel insertion mutation in the SEDL g

A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree

✍ Xin-Yi Xia; Ying-Xia Cui; Yu-Chun Zhou; Xin Zhou; Yi-Chao Shi; Li Wei; Xiao-Jun 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 289 KB

Multiple lipomas linked to an RB1 gene m

Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma

✍ Genuardi, Maurizio; Klutz, Martina; Devriendt, Koen; Caruso, Daniela; Stirpe, Ma 📂 Article 📅 2001 🏛 Nature Publishing Group 🌐 English ⚖ 268 KB

Deletions of the steroid sulphatase gene

Deletions of the steroid sulphatase gene in “classical” X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome

✍ A. Ballabio; G. Sebastio; R. Carrozzo; G. Parenti; A. Piccirillo; M. G. Persico; 📂 Article 📅 1987 🏛 Springer 🌐 English ⚖ 626 KB

We have studied 16 men, from 10 unrelated Italian families, affected by steroid suphatase (STS) deficiency, which is the basic defect of X-linked ichthyosis (XLI). The patients' clinical diagnoses were of either isolated ichthyosis or ichthyosis associated with Kallmann syndrome (KS) (hypogonadotrop

Novel GDI1 mutation in a large family wi

Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability

✍ Gertrud Strobl-Wildemann; Vera M. Kalscheuer; Hao Hu; Klaus Wrogemann; Hans-Hilg 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 951 KB

A novel mutation in MID1 in a patient wi

A novel mutation in MID1 in a patient with X-linked Opitz G/BBB syndrome

✍ Ji, Xing; Xing, Ya; Xu, Yan; Liu, Yu; Chen, Yingwei; Tao, Jiong; Xiao, Bing 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 463 KB