SCOPUS 정보 검색 플랫폼

Volumn 28, Issue SUPPL., 2001, Pages

A family affected by branchio-oto syndrome with EYA1 mutations

(10) Fukuda, Satoshi a Kuroda, Tsutomu a Chida, Eiji a Shimizu, Rie a Usami, Shin Ichi b Koda, Eiko b Abe, Satoko c Namba, Atsushi c Kitamura, Ken d Inuyama, Yukio d

a HOKKAIDO UNIVERSITY (Japan)

b SHINSHU UNIVERSITY SCHOOL OF MEDICINE (Japan)

c HIROSAKI UNIVERSITY (Japan)

d TOKYO MEDICAL AND DENTAL UNIVERSITY (Japan)

Author keywords

Branchio oto (BO) syndrome; Branchio oto renal (BOR) syndrome; EYA1

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRANCHIOOTORENAL SYNDROME; CASE REPORT; CHILD; FAMILY STUDY; GENE MUTATION; HEARING LOSS; HUMAN; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; SCREENING; SECRETORY OTITIS MEDIA;

BRANCHIO-OTO-RENAL SYNDROME; CHILD; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PROTEIN-TYROSINE-PHOSPHATASE; TRANS-ACTIVATORS;

EID: 0035004863 PISSN: 03858146 EISSN: None Source Type: Journal
DOI: 10.1016/S0385-8146(01)00082-7 Document Type: Article

Times cited : (17)

References (20)

1
- 0016716678
- Autosomal dominant branchiootorenal dysplasia
- (1975) Birth Defects Orig Artic Ser , vol.11 , pp. 121-128
- Melnick, M.¹ Bixler, D.² Silk, K.³ Yune, H.⁴ Nance, W.E.⁵

2
- 0020568906
- Autosomal dominant duplication of the renal collecting system, hearing loss, and external ear anomalies: a new syndrome?
- (1983) Am J Med Genet , vol.14 , pp. 473-478
- Fraser, F.C.¹ Aym, S.² Halal, F.³ Sproule, J.⁴

3
- 0032169296
- Branchio-oto-renal syndrome
- (1998) J Commun Disord , vol.31 , pp. 411-420
- Smith, R.J.¹ Schwartz, C.²

4
- 0024403636
- Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q
- (1989) Am J Med Genet , vol.32 , pp. 490-494
- Haan, E.A.¹ Hull, Y.J.² White, S.³ Cockington, R.⁴ Charlton, P.⁵ Callen, D.F.⁶

5
- 0028359165
- Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis
- (1994) Am J Med Genet , vol.51 , pp. 176-184
- Ni, L.¹ Wagner, M.J.² Kimberling, W.J.³ Pembrey, M.E.⁴ Grundfast, K.M.⁵ Kumar, S.⁶

6
- 0028319224
- Localization of branchio-oto-renal (BOR) syndrome to a 3 Mb region of chromosome 8q
- (1994) Am J Med Genet , vol.51 , pp. 169-175
- Wang, Y.¹ Treat, K.² Schroer, R.J.³ O'Brien, J.E.⁴ Stevenson, R.E.⁵ Schwartz, C.E.⁶

7
- 0031046284
- A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family
- (1997) Nat Genet , vol.15 , pp. 157-164
- Abdelhak, S.¹ Kalatzis, V.² Heilig, R.³ Compain, S.⁴ Samson, D.⁵ Vincent, C.⁶

8
- 0031980199
- Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome
- (1998) Hum Mutat , vol.11 , pp. 443-449
- Kumar, S.¹ Kimberling, W.J.² Weston, M.D.³ Schaefer, B.G.⁴ Berg, M.A.⁵ Marres, H.A.⁶

9
- 0017852237
- Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders
- (1978) Clin Genet , vol.13 , pp. 425-442
- Melnick, M.¹ Hodes, M.E.² Nance, W.E.³ Yune, H.⁴ Sweeney, A.⁵

10
- 0030657802
- BOR and BO syndromes are allelic defects of EYA1
- (1997) Eur J Hum Genet , vol.5 , pp. 242-246
- Vincent, C.¹ Kalatzis, V.² Abdelhak, S.³ Chaib, H.⁴ Compain, S.⁵ Helias, J.⁶

11
- 0033041720
- EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family
- (1999) J Hum Genet , vol.44 , pp. 261-265
- Usami, S.¹ Abe, S.² Shinkawa, H.³ Deffenbacher, K.⁴ Kumar, S.⁵ Kimberling, W.J.⁶

12
- 9844262802
- Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1
- (1997) Hum Mol Genet , vol.6 , pp. 2247-2255
- Abdelhak, S.¹ Kalatzis, V.² Heilig, R.³ Compain, S.⁴ Samson, D.⁵ Vincent, C.⁶

13
- 0000203969
- Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing
- (1997) Genet Test , vol.1 , pp. 243-251
- Kumar, S.¹ Deffenbacher, K.² Cremers, C.W.³ Van Camp, G.⁴ Kimberling, W.J.⁵

14
- 0034639683
- Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies
- (2000) Hum Mol Genet , vol.9 , pp. 363-366
- Azuma, N.¹ Hirakiyama, A.² Inoue, T.³ Asaka, A.⁴ Yamada, M.⁵

15
- 0031027150
- Mouse Eya homologues of the Drosophila eyes absent gene require Pax6 for expression in lens and nasal placode
- (1997) Development , vol.124 , pp. 219-231
- Xu, P.X.¹ Woo, I.² Her, H.³ Beier, D.R.⁴ Maas, R.L.⁵

16
- 0031760440
- Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndrome
- (1998) Dev Dyn , vol.213 , pp. 486-499
- Kalatzis, V.¹ Sahly, I.² El-Amraoui, A.³ Petit, C.⁴

17
- 0032842838
- Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia
- (1999) Nat Genet , vol.23 , pp. 113-117
- Xu, P.X.¹ Adams, J.² Peters, H.³ Brown, M.C.⁴ Heaney, S.⁵ Maas, R.⁶

18
- 0033865348
- Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes
- (2000) J Med Genet , vol.37 , pp. 623-627
- Rickard, S.¹ Boxer, M.² Trompeter, R.³ Bitner-Glindzicz, M.⁴

19
- 0034709125
- Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome
- (2000) Am J Med Genet , vol.91 , pp. 387-390
- Lin, A.E.¹ Semina, E.V.² Daack Hirsch, S.³ Roeder, E.R.⁴ Curry, C.J.⁵ Rosenbaum, K.⁶

20
- 0033942027
- Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications
- (2000) Am J Human Genet , vol.66 , pp. 1715-1720
- Kumar, S.¹ Deffenbacher, K.² Marres, H.A.³ Cremers, C.W.⁴ Kimberling, W.J.⁵

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.