-
1
-
-
0019165942
-
Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss
-
Fraser FC, Sproule JR, Halal F. Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. Am J Med Genet 1980;7:341-9.
-
(1980)
Am J Med Genet
, vol.7
, pp. 341-349
-
-
Fraser, F.C.1
Sproule, J.R.2
Halal, F.3
-
2
-
-
0022461894
-
Branchio-oto-renal syndrome: Reduced penetrance and variable expressivity in four generations of a large kindred
-
Heimler A, Lieber E. Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred. Am J Med Genet 1986;25:15-27.
-
(1986)
Am J Med Genet
, vol.25
, pp. 15-27
-
-
Heimler, A.1
Lieber, E.2
-
3
-
-
0028356339
-
Branchio-oto-renal (BOR) syndrome: Variable expressivity in a five-generation pedigree
-
Konig R, Fuchs S, Dukiet C. Branchio-oto-renal (BOR) syndrome: variable expressivity in a five-generation pedigree. Eur J Pediatr 1994;153:446-50.
-
(1994)
Eur J Pediatr
, vol.153
, pp. 446-450
-
-
Konig, R.1
Fuchs, S.2
Dukiet, C.3
-
4
-
-
0031663601
-
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. 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). Am J Med Genet 1998;79:209-14.
-
(1998)
Am J Med Genet
, vol.79
, pp. 209-214
-
-
Stratakis, C.A.1
Lin, J.P.2
Rennert, O.M.3
-
5
-
-
0031046284
-
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family
-
Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, et al. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet 1997;15:157-64.
-
(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
-
6
-
-
0032842838
-
Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordial
-
Xu PX, Adams J, Peters H, Brown MC, Heaney S, Maas R. Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordial. Nat Genet 1999;23:113-7.
-
(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
-
7
-
-
2642566992
-
Branchio-oto-renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences
-
Chang EH, Menezes M, Meyer NC, Cucci RA, Vervoort VS, Schwartz CE, et al. Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat 2004;23:582-9.
-
(2004)
Hum Mutat
, vol.23
, pp. 582-589
-
-
Chang, E.H.1
Menezes, M.2
Meyer, N.C.3
Cucci, R.A.4
Vervoort, V.S.5
Schwartz, C.E.6
-
8
-
-
0030657802
-
BOR and BO syndromes are allelic defects of EYA1
-
Vincent C, Kalatzis V, Abdelhak S, Chaib H, Compain S, Helias J, et al. BOR and BO syndromes are allelic defects of EYA1. Eur J Hum Genet 1997;5:242-6.
-
(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
-
9
-
-
0032513573
-
Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13
-
Kumar S, Marres HA, Cremers CW, Kimberling WJ. Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13. Am J Med Genet 1998;76:395-401.
-
(1998)
Am J Med Genet
, vol.76
, pp. 395-401
-
-
Kumar, S.1
Marres, H.A.2
Cremers, C.W.3
Kimberling, W.J.4
-
10
-
-
0033041720
-
EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family
-
Usami S, Abe S, Shinkawa H, Deffenbacher K, Kumar S, Kimberling WJ. EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family. J Hum Genet 1999;44:261-5.
-
(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
-
11
-
-
0035004863
-
A family affected by branchio-oto syndrome with EYA1 mutations
-
Fukuda S, Kuroda T, Chida E, Shimizu R, Usami S, Koda E, et al. A family affected by branchio-oto syndrome with EYA1 mutations. Auris Nasus Larynx 2001;28(Suppl): S7-S11.
-
(2001)
Auris Nasus Larynx
, vol.28
, Issue.SUPPL.
-
-
Fukuda, S.1
Kuroda, T.2
Chida, E.3
Shimizu, R.4
Usami, S.5
Koda, E.6
-
12
-
-
0034843997
-
Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis
-
Namba A, Abe S, Shinkawa H, Kimberling WJ, Usami SI. Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis. J Hum Genet 2001;46:518-21.
-
(2001)
J Hum Genet
, vol.46
, pp. 518-521
-
-
Namba, A.1
Abe, S.2
Shinkawa, H.3
Kimberling, W.J.4
Usami, S.I.5
-
13
-
-
0037242560
-
Mutation of the EYA1 gene in patients with branchio-oto syndrome
-
Yashima T, Noguchi Y, Ishikawa K, Mizusawa H, Kitamura K. Mutation of the EYA1 gene in patients with branchio-oto syndrome. Acta Otolaryngol 2003;123:279-82.
-
(2003)
Acta Otolaryngol
, vol.123
, pp. 279-282
-
-
Yashima, T.1
Noguchi, Y.2
Ishikawa, K.3
Mizusawa, H.4
Kitamura, K.5
-
14
-
-
7044263218
-
EYA1 gene nonsense mutation in a Japanese family with branchio-oto-renal syndrome
-
Uno T, Sawada M, Kurotaki T, Shinomiya N. EYA1 gene nonsense mutation in a Japanese family with branchio-oto-renal syndrome. Pediatr Int 2004;46:615-7.
-
(2004)
Pediatr Int
, vol.46
, pp. 615-617
-
-
Uno, T.1
Sawada, M.2
Kurotaki, T.3
Shinomiya, N.4
-
15
-
-
9844262802
-
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1
-
Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, et al. Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet 1997;6:2247-55.
-
(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
-
16
-
-
0031612929
-
the Nomenclature Working Group. Recommendations for a nomenclature system for human gene mutations
-
Antonarakis SE, the Nomenclature Working Group. Recommendations for a nomenclature system for human gene mutations. Hum Mutat 1998;11:1-3.
-
(1998)
Hum Mutat
, vol.11
, pp. 1-3
-
-
Antonarakis, S.E.1
-
17
-
-
0033987736
-
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
-
den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000;15:7-12.
-
(2000)
Hum Mutat
, vol.15
, pp. 7-12
-
-
den Dunnen, J.T.1
Antonarakis, S.E.2
-
18
-
-
0028990685
-
Phenotypic manifestations of branchio-oto-renal syndrome
-
Chen A, Francis M, Ni L, Cremers CW, Kimberling WJ, Sato Y, et al. Phenotypic manifestations of branchio-oto-renal syndrome. Am J Med Genet 1995;58:365-70.
-
(1995)
Am J Med Genet
, vol.58
, pp. 365-370
-
-
Chen, A.1
Francis, M.2
Ni, L.3
Cremers, C.W.4
Kimberling, W.J.5
Sato, Y.6
-
20
-
-
0022178515
-
Familial mixed deafness with branchial arch defects (earpits-deafness syndrome)
-
Slack RW, Phelps PD. Familial mixed deafness with branchial arch defects (earpits-deafness syndrome). Clin Otolaryngol Allied Sci 1985;10:271-7.
-
(1985)
Clin Otolaryngol Allied Sci
, vol.10
, pp. 271-277
-
-
Slack, R.W.1
Phelps, P.D.2
-
22
-
-
0027376841
-
Neo-oval window technique and myringo-chorda-vestibulopexy in the BOR syndrome
-
Cremers CW, Marres HA, Brunner HG. Neo-oval window technique and myringo-chorda-vestibulopexy in the BOR syndrome. Laryngoscope 1993;103:1186-9.
-
(1993)
Laryngoscope
, vol.103
, pp. 1186-1189
-
-
Cremers, C.W.1
Marres, H.A.2
Brunner, H.G.3
-
23
-
-
0035797094
-
The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the branchio-oto-renal syndrome. A family study
-
Stinckens C, Standaert L, Casselman JW, Huygen PL, Kumar S, Van de Wallen J, et al. The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the branchio-oto-renal syndrome. A family study. Int J Pediatr Otorhinolaryngol 2001;59:163-72.
-
(2001)
Int J Pediatr Otorhinolaryngol
, vol.59
, pp. 163-172
-
-
Stinckens, C.1
Standaert, L.2
Casselman, J.W.3
Huygen, P.L.4
Kumar, S.5
Van de Wallen, J.6
|