✦ LIBER ✦

Deficient auditory interhemispheric transfer in patients with PAX6 mutations

✍ Scribed by Doris-Eva Bamiou; Frank E. Musiek; Sanjay M. Sisodiya; Samantha L. Free; Rosalyn A. Davies; Anthony Moore; Veronica van Heyningen; Linda M. Luxon

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 134 KB
Volume: 56
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.20227

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation in the PAX6 gene in twenty pati

Mutation in the PAX6 gene in twenty patients with aniridia

✍ Lian-Yu Chao; Vicki Huff; Louise C. Strong; Grady F. Saunders 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 275 KB 👁 2 views

This is a report on the nature of the mutations in the PAX6 gene in twenty patients with aniridia. Five of the twenty patients had sporadic aniridia with deletions in chromosome 11p13. Three of the five had WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, mental retardation), and the o

Run-on mutation and three novel nonsense

Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia

✍ Larry Baum; C.P. Pang; Dorothy S.P. Fan; Priscilla M.K. Poon; Y.F. Leung; John K 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 14 KB 👁 2 views

Compound heterozygosity for mutations in

Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia

✍ Benjamin D. Solomon; Daniel E. Pineda-Alvarez; Joan Z. Balog; Donald Hadley; And 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 155 KB 👁 1 views

A de novo nonsense mutation of PAX6 gene

A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation

✍ Claudio Graziano; Angela V. D'Elia; Laura Mazzanti; Filomena Moscano; Simonetta 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 122 KB 👁 2 views

Eight novel mutations and consequences o

Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia

✍ Wilfried Kugler; Christian Willaschek; Christiane Holtz; Andreas Ohlenbusch; Pet 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 409 KB

## Communicated by Mark Paalman Pyruvate kinase (PK) deficiency (PKD) is an autosomal recessive disorder with the typical manifestation of nonspherocytic hemolytic anemia. We analyzed the mutant enzymes of 10 unrelated patients with PKD, whose symptoms ranged from a mild, chronic hemolytic anemia t

Exclusion of a PAX6, FOXC1, PITX2, and M

Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature

✍ Yolande van Bever; Liselotte van Hest; Roger Wolfs; Dick Tibboel; Thelma L. van 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 135 KB 👁 1 views

## Abstract We describe another patient with the combination of apple peel intestinal atresia, microcephaly, microphthalmia, and anterior eye chamber anomalies. Development so far seems to be normal, although there is major visual impairment due to the corneal clouding. Mutation analysis of the __P