𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Branchio-oto-renal syndrome: identification of a novel mutation in theEYA1gene

✍ Scribed by Juan Rodríguez-Soriano; Alfredo Vallo; José Ramón Bilbao; Luis Castaño

Publisher
Springer
Year
2001
Tongue
English
Weight
82 KB
Volume
16
Category
Article
ISSN
0931-041X

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of three novel mutations
Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome
✍ Shrawan Kumar; William J. Kimberling; Michael D. Weston; Bradley G. Schaefer; Ma 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 301 KB 👁 2 views

The Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial clefts, preauricular sinuses, hearing loss, and renal anomalies. Recent studies have shown that mutations in EYA1 are associated with BOR. However, the underlying molecular mechanisms by which mutation

Branchio-oto-renal syndrome (BOR): novel
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR
✍ Dana J. Orten; Stephanie M. Fischer; Jessica L. Sorensen; Uppala Radhakrishna; C 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 211 KB 👁 1 views

## Communicated by Maria Rita Passos-Bueno Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder characterized by the association of branchial and external ear malformations, hearing loss, and renal anomalies. The phenotype varies from ear pits to profound hearing loss, branchial fist

Branchio-oto-renal syndrome: The mutatio
Branchio-oto-renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences
✍ Eugene H. Chang; Maithilee Menezes; Nicole C. Meyer; Robert A. Cucci; Virginie S 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 311 KB

## Communicated by Mark H. Paalman EYA1 mutations cause branchio-oto-renal (BOR) syndrome. These mutations include single nucleotide transitions and transversions, small duplications and deletions, and complex genomic rearrangements. The last cannot be detected by coding sequence analysis of EYA1.

SIX1 mutation screening in 247 branchio-
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR
✍ Amit Kochhar; Dana J. Orten; Jessica L. Sorensen; Stephanie M. Fischer; Cor W. R 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 932 KB

## Communicated by Peter Humphries Branchio-oto-renal syndrome (BOR) is a clinically heterogeneous autosomal dominant form of syndromic hearing loss characterized by variable hearing impairment, malformations of the pinnae, the presence of branchial arch remnants, and various renal abnormalities.