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Literature DB >> 8088301

Branchio-oto-renal (BOR) syndrome: variable expressivity in a five-generation pedigree.

Abstract

A five-generation family with the branchio-oto-renal (BOR) syndrome is reported demonstrating the great variability of this syndrome. Symptoms of the branchio-oto, branchio-oto-ureteral, and BOR syndromes are seen in different members of this family, suggesting that these are not real entities, but variants of the BOR syndrome.

Entities: Disease

Mesh：

Year: 1994 PMID： 8088301 DOI： 10.1007/bf01983410

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

35 in total

1. Autosomal dominant branchiootorenal dysplasia.

Authors: M Melnick; D Bixler; K Silk; H Yune; W E Nance
Journal: Birth Defects Orig Artic Ser Date: 1975

2. Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred.

Authors: B R Rollnick; C I Kaye
Journal: Am J Med Genet Date: 1987-05

3. The BOR syndrome as a possible neurocristopathy.

Authors: S Gimsing
Journal: Ear Nose Throat J Date: 1987-04 Impact factor: 1.697

Review 4. External ear malformations: epidemiology, genetics, and natural history.

Authors: M Melnick; N C Myrianthopoulos; N W Paul
Journal: Birth Defects Orig Artic Ser Date: 1979

5. Familial hearing loss associated with branchial fistulas.

Authors: P T Rowley
Journal: Pediatrics Date: 1969-12 Impact factor: 7.124

6. Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome.

Authors: E Legius; J P Fryns; H Van den Berghe
Journal: Clin Genet Date: 1990-05 Impact factor: 4.438

7. Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders.

Authors: M Melnick; M E Hodes; W E Nance; H Yune; A Sweeney
Journal: Clin Genet Date: 1978-05 Impact factor: 4.438

8. Gustatory lacrimation in association with the branchio-oto-renal syndrome.

Authors: J W Preisch; D Bixler; F D Ellis
Journal: Clin Genet Date: 1985-05 Impact factor: 4.438

9. The branchio-oto-renal (BOR) syndrome: report of bilateral renal agenesis in three sibs.

Authors: R Carmi; M Binshtock; D Abeliovich; J Bar-Ziv
Journal: Am J Med Genet Date: 1983-04

10. Branchio-oto-renal syndrome: further delineation of an underdiagnosed syndrome.

Authors: D Chitayat; K A Hodgkinson; M F Chen; G D Haber; S Nakishima; I Sando
Journal: Am J Med Genet Date: 1992-08-01

8 in total

1. Eya1 gene dosage critically affects the development of sensory epithelia in the mammalian inner ear.

Authors: Dan Zou; Christopher Erickson; Eun-Hee Kim; Dongzhu Jin; Bernd Fritzsch; Pin-Xian Xu
Journal: Hum Mol Genet Date: 2008-08-04 Impact factor: 6.150

2. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.

Authors: Rainer G Ruf; Pin-Xian Xu; Derek Silvius; Edgar A Otto; Frank Beekmann; Ulla T Muerb; Shrawan Kumar; Thomas J Neuhaus; Markus J Kemper; Richard M Raymond; Patrick D Brophy; Jennifer Berkman; Michael Gattas; Valentine Hyland; Eva-Maria Ruf; Charles Schwartz; Eugene H Chang; Richard J H Smith; Constantine A Stratakis; Dominique Weil; Christine Petit; Friedhelm Hildebrandt
Journal: Proc Natl Acad Sci U S A Date: 2004-05-12 Impact factor: 11.205

Branchio-oto-renal (BOR) syndrome: variable expressivity in a five-generation pedigree.

1. Autosomal dominant branchiootorenal dysplasia.

2. Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred.

3. The BOR syndrome as a possible neurocristopathy.

Review 4. External ear malformations: epidemiology, genetics, and natural history.

5. Familial hearing loss associated with branchial fistulas.

6. Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome.

7. Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders.

8. Gustatory lacrimation in association with the branchio-oto-renal syndrome.

9. The branchio-oto-renal (BOR) syndrome: report of bilateral renal agenesis in three sibs.

10. Branchio-oto-renal syndrome: further delineation of an underdiagnosed syndrome.

1. Eya1 gene dosage critically affects the development of sensory epithelia in the mammalian inner ear.

2. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.

Review 3. Management and etiology of the unilateral multicystic dysplastic kidney: a review.

4. Re-Examining the Cochlea in Branchio-Oto-Renal Syndrome: Genotype-Phenotype Correlation.

Review 5. Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review.

6. A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome.

Review 7. Anatomical and audiological considerations in branchiootorenal syndrome: A systematic review.

8. Six1 is essential for differentiation and patterning of the mammalian auditory sensory epithelium.