-
1
-
-
76949125703
-
A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness
-
Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet 1951;3:195-293.
-
(1951)
Am J Hum Genet
, vol.3
, pp. 195-293
-
-
Waardenburg, P.J.1
-
2
-
-
0015020545
-
Genetic heterogeneity in Waardenburg syndrome
-
S Arias. Genetic heterogeneity in Waardenburg syndrome. Birth Defects 1971;7:87-101.
-
(1971)
Birth Defects
, vol.7
, pp. 87-101
-
-
Arias, S.1
-
4
-
-
0020694438
-
Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III)
-
Klein D. Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III) Am J Med Genet 1983;14:231-239.
-
(1983)
Am J Med Genet
, vol.14
, pp. 231-239
-
-
Klein, D.1
-
5
-
-
0019406679
-
White forelock, pigmentary disorder of the irides, and long segment Hirschsprung disease: Possible variant of Waardenburg syndrome
-
Shah KN, Dahl SJ, Desai MP, Sheth PN, Joshi NC, Albani LM. White forelock, pigmentary disorder of the irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndrome. J Pediatr 1981;99:432-435.
-
(1981)
J Pediatr
, vol.99
, pp. 432-435
-
-
Shah, K.N.1
Dahl, S.J.2
Desai, M.P.3
Sheth, P.N.4
Joshi, N.C.5
Albani, L.M.6
-
6
-
-
0026602124
-
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
-
Tassabehji M, Read AP, Newton VE, et al. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 1992;355:635-636.
-
(1992)
Nature
, vol.355
, pp. 635-636
-
-
Tassabehji, M.1
Read, A.P.2
Newton, V.E.3
-
7
-
-
0028952247
-
Homozygosity for Waardenburg syndrome
-
Zlotogora J, Lerer I, Bar-David S, Ergaz Z, Abelovich D. Homozygosity for Waardenburg syndrome. Am J Hum Genet 1995;56:1173-1178.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1173-1178
-
-
Zlotogora, J.1
Lerer, I.2
Bar-David, S.3
Ergaz, Z.4
Abelovich, D.5
-
8
-
-
0027943189
-
Waardenburg syndrome type II caused by mutations in the human microphthalmia (MITF) gene
-
Tassabehji M, Newton VE, Read AP. Waardenburg syndrome type II caused by mutations in the human microphthalmia (MITF) gene. Nat Genet 1994;8:251-255.
-
(1994)
Nat Genet
, vol.8
, pp. 251-255
-
-
Tassabehji, M.1
Newton, V.E.2
Read, A.P.3
-
9
-
-
0029741915
-
Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics
-
Tachibana M, Takeda K, Nobukuni Y, et al. Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics. Nat Genet 1996;14:50-54.
-
(1996)
Nat Genet
, vol.14
, pp. 50-54
-
-
Tachibana, M.1
Takeda, K.2
Nobukuni, Y.3
-
10
-
-
0028618372
-
A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease
-
Puffenberger EG, Hosoda K, Washington SS, et al. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 1994;79:1257-1266.
-
(1994)
Cell
, vol.79
, pp. 1257-1266
-
-
Puffenberger, E.G.1
Hosoda, K.2
Washington, S.S.3
-
11
-
-
0006457459
-
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
-
Edery P, Attie T, Amiel J, et al. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet 1996;12:442-444.
-
(1996)
Nat Genet
, vol.12
, pp. 442-444
-
-
Edery, P.1
Attie, T.2
Amiel, J.3
-
12
-
-
17344366171
-
SOX10 mutations in patients with Waardenburg-Hirschsprung disease
-
Pingault V, Bondurand N, Kuhlbrodt K, et al. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet 1998;18:171-173.
-
(1998)
Nat Genet
, vol.18
, pp. 171-173
-
-
Pingault, V.1
Bondurand, N.2
Kuhlbrodt, K.3
-
13
-
-
0033927518
-
Neurological phenotype in Waardenburg syndrome type 4 correlates with Novel SOX10 truncating mutations and expression in developing brain
-
Touraine RL, Attie-Bitach T, Manceau E, et al. Neurological phenotype in Waardenburg syndrome type 4 correlates with Novel SOX10 truncating mutations and expression in developing brain. Am J Hum Genet 2000;66:1496-1503.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1496-1503
-
-
Touraine, R.L.1
Attie-Bitach, T.2
Manceau, E.3
-
14
-
-
0030920844
-
The incidence of deafness is nonrandomly distributed among families segregating for Waardenburg syndrome type I (WS1)
-
Morell R, Friedman TB, Asher JH Jr, Robbins LG. The incidence of deafness is nonrandomly distributed among families segregating for Waardenburg syndrome type I (WS1). J Med Genet 1997;34:447-452.
-
(1997)
J Med Genet
, vol.34
, pp. 447-452
-
-
Morell, R.1
Friedman, T.B.2
Asher J.H., Jr.3
Robbins, L.G.4
-
15
-
-
0017621896
-
Audiometric findings in 34 patients with Waardenburg's syndrome
-
Hageman MJ. Audiometric findings in 34 patients with Waardenburg's syndrome. J Laryngol Otol 1977;7:575-584.
-
(1977)
J Laryngol Otol
, vol.7
, pp. 575-584
-
-
Hageman, M.J.1
-
16
-
-
0025099433
-
Hearing loss and Waardenburg's syndrome: Implications for genetic counselling
-
Newton V. Hearing loss and Waardenburg's syndrome: implications for genetic counselling. J Laryngol Otol 1990;104:97-103.
-
(1990)
J Laryngol Otol
, vol.104
, pp. 97-103
-
-
Newton, V.1
-
17
-
-
0028908831
-
Waardenburg syndrome type II: Phenotypic findings and diagnostic criteria
-
Liu X, Newton VE, Read AP. Waardenburg syndrome type II: phenotypic findings and diagnostic criteria. Am J Med Genet 1995;2:95-100.
-
(1995)
Am J Med Genet
, vol.2
, pp. 95-100
-
-
Liu, X.1
Newton, V.E.2
Read, A.P.3
-
18
-
-
0033835733
-
Audiometric manifestations of Waardenburg's syndrome
-
Oysu C, Baserer N, Tinaz M. Audiometric manifestations of Waardenburg's syndrome. Ear Nose Throat J 2000;9:704-709.
-
(2000)
Ear Nose Throat J
, vol.9
, pp. 704-709
-
-
Oysu, C.1
Baserer, N.2
Tinaz, M.3
-
20
-
-
0023196349
-
Pigment anomaly-associated inner ear deafness
-
Schrott A, Spoendlin H. Pigment anomaly-associated inner ear deafness. Acta Otolaryngol 1987;103:451-457.
-
(1987)
Acta Otolaryngol
, vol.103
, pp. 451-457
-
-
Schrott, A.1
Spoendlin, H.2
-
21
-
-
0034841797
-
Otopathology in a case of type I Waardenburg syndrome
-
Merchant SN, McKenna MJ, Baldwin CT, Milunsky A, Nadol JB. Otopathology in a case of type I Waardenburg syndrome. Ann Otol Rhinol Laryngol 2001;9:875-882.
-
(2001)
Ann Otol Rhinol Laryngol
, vol.9
, pp. 875-882
-
-
Merchant, S.N.1
McKenna, M.J.2
Baldwin, C.T.3
Milunsky, A.4
Nadol, J.B.5
-
22
-
-
17044442964
-
Vestibular function and additional findings in Waardenburg's syndrome
-
Marcus RE. Vestibular function and additional findings in Waardenburg's syndrome. Acta Otolaryngol (Suppl) 1968;229:1-30.
-
(1968)
Acta Otolaryngol (Suppl)
, vol.229
, pp. 1-30
-
-
Marcus, R.E.1
-
23
-
-
0016733747
-
Tomographic findings of the inner ears of 24 patients with Waardenburg's syndrome
-
Nemansky J, Hageman MJ. Tomographic findings of the inner ears of 24 patients with Waardenburg's syndrome. AJR Radium Ther Nucl Med 1975;2:250-255.
-
(1975)
AJR Radium Ther Nucl Med
, vol.2
, pp. 250-255
-
-
Nemansky, J.1
Hageman, M.J.2
-
25
-
-
0026675412
-
Aplasia of posterior semicircular canal in Waardenburg syndrome type II
-
Higashi K, Matsuki C, Sarashina N. Aplasia of posterior semicircular canal in Waardenburg syndrome type II. J Otolaryngol 1992;21:262-264.
-
(1992)
J Otolaryngol
, vol.21
, pp. 262-264
-
-
Higashi, K.1
Matsuki, C.2
Sarashina, N.3
-
26
-
-
0021228258
-
Waardenburg's syndrome: A case report with CT scanning and cochleovestibular evaluation
-
Schweitzer VG, Clack TD. Waardenburg's syndrome: a case report with CT scanning and cochleovestibular evaluation. Int J Pediatr Otol 1984;2:311-322.
-
(1984)
Int J Pediatr Otol
, vol.2
, pp. 311-322
-
-
Schweitzer, V.G.1
Clack, T.D.2
-
27
-
-
0028022157
-
Fluctuating and/or progressive sensorineural hearing loss in children
-
Brookhouser PF, Worthington DW, Kelly WJ. Fluctuating and/or progressive sensorineural hearing loss in children. Laryngoscope 1994;104:958-964.
-
(1994)
Laryngoscope
, vol.104
, pp. 958-964
-
-
Brookhouser, P.F.1
Worthington, D.W.2
Kelly, W.J.3
-
28
-
-
0034086536
-
Longitudinal investigation of hearing disorders in children with congenital cytomegalovirus
-
Dahle AJ, Fowler KB, Wright JD, Boppana SB, Writt SJ, Pass RF. Longitudinal investigation of hearing disorders in children with congenital cytomegalovirus. J Am Acad Audiol 2000;11:283-290.
-
(2000)
J Am Acad Audiol
, vol.11
, pp. 283-290
-
-
Dahle, A.J.1
Fowler, K.B.2
Wright, J.D.3
Boppana, S.B.4
Writt, S.J.5
Pass, R.F.6
-
29
-
-
0038636912
-
Enlarged vestibular aqueduct syndrome in the pediatric population
-
Madden C, Halsted M, Benton C, Greinwald J, Choo D. Enlarged vestibular aqueduct syndrome in the pediatric population. Otol Neurotol 2003;24:625-632.
-
(2003)
Otol Neurotol
, vol.24
, pp. 625-632
-
-
Madden, C.1
Halsted, M.2
Benton, C.3
Greinwald, J.4
Choo, D.5
-
30
-
-
0031956189
-
Hearing loss with cochlear modiolar defects and large vestibular aqueducts
-
Antonelli PJ, Nall AV, Lemmerling MM, Mancuso AA, Kubilis AA. Hearing loss with cochlear modiolar defects and large vestibular aqueducts. Am J Otol 1998;19:306-312.
-
(1998)
Am J Otol
, vol.19
, pp. 306-312
-
-
Antonelli, P.J.1
Nall, A.V.2
Lemmerling, M.M.3
Mancuso, A.A.4
Kubilis, A.A.5
-
31
-
-
0020594546
-
Hereditary inner-ear abnormalities in animals
-
Steel KP, Bock GR. Hereditary inner-ear abnormalities in animals. Arch Otolaryngol 1983;109:22-29.
-
(1983)
Arch Otolaryngol
, vol.109
, pp. 22-29
-
-
Steel, K.P.1
Bock, G.R.2
-
32
-
-
70449325548
-
Deafness as part of an hereditary syndrome
-
Fish L. Deafness as part of an hereditary syndrome. J Laryngol Otol 1959;73:355-382.
-
(1959)
J Laryngol Otol
, vol.73
, pp. 355-382
-
-
Fish, L.1
-
33
-
-
0021742475
-
Inner ear anomalies in Waardenburg's syndrome associated with Hirschsprung's disease
-
Rarey KE, Davis LE. Inner ear anomalies in Waardenburg's syndrome associated with Hirschsprung's disease. Int J Pediatr Otorhinolaryngol 1984;2:181-189.
-
(1984)
Int J Pediatr Otorhinolaryngol
, vol.2
, pp. 181-189
-
-
Rarey, K.E.1
Davis, L.E.2
-
34
-
-
0026755350
-
Temporal bone histopathologic findings of Waardenburg's syndrome: A case report
-
Nakashima S, Sando I, Takahishi H, Hashida Y. Temporal bone histopathologic findings of Waardenburg's syndrome: a case report. Laryngoscope 1992;5:563-567.
-
(1992)
Laryngoscope
, vol.5
, pp. 563-567
-
-
Nakashima, S.1
Sando, I.2
Takahishi, H.3
Hashida, Y.4
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