PubMed (cited) for id: 602588

Year	Number of Results
1955	1
1962	1
1969	1
1976	1
1978	1
1980	1
1981	1
1989	1
1996	2
1997	1
1998	1
2000	1
2006	1
2007	1
2024	0

1

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.

Hoskins BE, Cramer CH, Silvius D, Zou D, Raymond RM, Orten DJ, Kimberling WJ, Smith RJ, Weil D, Petit C, Otto EA, Xu PX, Hildebrandt F. Hoskins BE, et al. Am J Hum Genet. 2007 Apr;80(4):800-4. doi: 10.1086/513322. Epub 2007 Feb 22. Am J Hum Genet. 2007. PMID: 17357085 Free PMC article.

2

Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum.

Spruijt L, Hoefsloot LH, van Schaijk GH, van Waardenburg D, Kremer B, Brackel HJ, de Die-Smulders CE. Spruijt L, et al. Am J Med Genet A. 2006 Jun 15;140(12):1343-5. doi: 10.1002/ajmg.a.31285. Am J Med Genet A. 2006. PMID: 16691597 No abstract available.

3

Hereditary malformations of the ear in three generations. Marginal pits, pre-auricular appendages, malformations of the auricle and conductive deafness.

WILDERVANCK LS. WILDERVANCK LS. Acta Otolaryngol. 1962 Jun;54:553-60. doi: 10.3109/00016486209126973. Acta Otolaryngol. 1962. PMID: 14006981 No abstract available.

4

Hereditary deafness in family with ear-pits (fistula auris congenita).

FOURMAN P, FOURMAN J. FOURMAN P, et al. Br Med J. 1955 Dec 3;2(4952):1354-6. doi: 10.1136/bmj.2.4952.1354. Br Med J. 1955. PMID: 13269867 Free PMC article. No abstract available.

5

Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies.

Azuma N, Hirakiyama A, Inoue T, Asaka A, Yamada M. Azuma N, et al. Hum Mol Genet. 2000 Feb 12;9(3):363-6. doi: 10.1093/hmg/9.3.363. Hum Mol Genet. 2000. PMID: 10655545

6

Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3).

Stratakis CA, Lin JP, Rennert OM. Stratakis CA, et al. Am J Med Genet. 1998 Sep 23;79(3):209-14. Am J Med Genet. 1998. PMID: 9788564

7

BOR and BO syndromes are allelic defects of EYA1.

Vincent C, Kalatzis V, Abdelhak S, Chaib H, Compain S, Helias J, Vaneecloo FM, Petit C. Vincent C, et al. Eur J Hum Genet. 1997 Jul-Aug;5(4):242-6. Eur J Hum Genet. 1997. PMID: 9359046

8

Detection of a megabase deletion in a patient with branchio-oto-renal syndrome (BOR) and tricho-rhino-phalangeal syndrome (TRPS): implications for mapping and cloning the BOR gene.

Gu JZ, Wagner MJ, Haan EA, Wells DE. Gu JZ, et al. Genomics. 1996 Jan 15;31(2):201-6. doi: 10.1006/geno.1996.0032. Genomics. 1996. PMID: 8824802

9

Characterization of a translocation-associated deletion defines the candidate region for the gene responsible for branchio-oto-renal syndrome.

Kalatzis V, Abdelhak S, Compain S, Vincent C, Petit C. Kalatzis V, et al. Genomics. 1996 Jun 15;34(3):422-5. doi: 10.1006/geno.1996.0307. Genomics. 1996. PMID: 8786145

10

Otological aspects of the earpit-deafness syndrome.

Cremers CW, Thijssen HO, Fischer AJ, Marres EH. Cremers CW, et al. ORL J Otorhinolaryngol Relat Spec. 1981;43(4):223-39. doi: 10.1159/000275541. ORL J Otorhinolaryngol Relat Spec. 1981. PMID: 6973119

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

15 results

Results by year