✦ LIBER ✦

NovelUBR1gene mutation in a patient with typical phenotype of Johanson–Blizzard syndrome

✍ Scribed by Gholam Hossein Fallahi; Mozhgan Sabbaghian; Manijeh Khalili; Nima Parvaneh; Martin Zenker; Nima Rezaei

Publisher: Springer
Year: 2010
Tongue: English
Weight: 159 KB
Volume: 170
Category: Article
ISSN: 0340-6997
DOI: 10.1007/s00431-010-1239-y

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Johanson–Blizzard syndrome caused by ide

Johanson–Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy

✍ Mariet Elting; Ariana Kariminejad; Marie-Louise de Sonnaville; Jaap Ottenkamp; S 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 128 KB 👁 2 views

Mild phenotypes in a series of patients

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations

✍ Joyce So; Vanessa Suckow; Zofia Kijas; Vera Kalscheuer; Bettina Moser; Jennifer 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 193 KB 👁 2 views

Oculocerebrorenal syndrome of Lowe: Thre

Oculocerebrorenal syndrome of Lowe: Three mutations in theOCRL1 gene derived from three patients with different phenotypes

✍ Kawano, Tomoyasu; Indo, Yasuhiro; Nakazato, Hitoshi; Shimadzu, Mitsunobu; Matsud 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 62 KB 👁 3 views

The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked multisystem disorder with major abnormalities of eyes, nervous system, and kidneys. Clinical manifestations include congenital cataract, mental retardation, and renal tubular dysfunction. A gene (OCRL1) responsible for OCRL was identified

Pigmented villonodular synovitis in a pa

Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation

✍ Elisabetta Mascheroni; M. Cristina Digilio; Elisabetta Cortis; Rita Devito; Anna 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 100 KB 👁 2 views

Clinical variability and novel mutations

Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype

✍ Véronique Dutrannoy; Ilja Demuth; Ulrich Baumann; Detlev Schindler; Kateryna Kon 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 463 KB

We have previously shown that mutations in the genes encoding DNA Ligase IV (LIGIV) and RAD50, involved in DNA repair by nonhomologous-end joining (NHEJ) and homologous recombination, respectively, lead to clinical and cellular features similar to those of Nijmegen Breakage Syndrome (NBS). Very rece

Neurofibromatosis type I gene mutation i

Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome

✍ Rina Wu; Eric Legius; Wim Robberecht; Monique Dumoulin; Jean-Jacques Cassiman; J 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 773 KB

## Communicated by Martin Bobrow Multiple lentigines (LEOPARD) syndrome has been delineated as an autosomal dominant disorder with lentigines, cardiac abnormalities, variable mental retardation, and typical craniofacial features as the most characteristic findings. LEOPARD syndrome shows a great c