-
2
-
-
4344656951
-
Early hearing detection and intervention programs: Opportunities for genetic services
-
White KR (2004) Early hearing detection and intervention programs: opportunities for genetic services. Am J Med Genet A 130:29-36
-
(2004)
Am J Med Genet A
, vol.130
, pp. 29-36
-
-
White, K.R.1
-
3
-
-
0033775739
-
Year 2000 position statement: Principles and guidelines for early hearing detection and intervention programs
-
Joint Committee on Infant Hearing; American Academy of Audiology; American Academy of Pediatrics; American Speech-Language-Hearing Association; Directors of Speech and Hearing Programs in State Health and Welfare Agencies
-
Joint Committee on Infant Hearing; American Academy of Audiology; American Academy of Pediatrics; American Speech-Language-Hearing Association; Directors of Speech and Hearing Programs in State Health and Welfare Agencies (2000) Year 2000 position statement: Principles and guidelines for early hearing detection and intervention programs. Pediatrics 106:798-817
-
(2000)
Pediatrics
, vol.106
, pp. 798-817
-
-
-
4
-
-
0033109258
-
The functional assessment of deaf and hard of hearing students
-
Karchmer MA, Allen TE (1999) The functional assessment of deaf and hard of hearing students. Am Ann Deaf 144:68-77
-
(1999)
Am Ann Deaf
, vol.144
, pp. 68-77
-
-
Karchmer, M.A.1
Allen, T.E.2
-
5
-
-
0030808914
-
Neonatal hearing screening with otoscopy, auditory brain stem response, and otoacoustic emissions
-
Doyle KJ, Burggraaff B, Fujikawa S, et al (1997) Neonatal hearing screening with otoscopy, auditory brain stem response, and otoacoustic emissions. Otolaryngol Head Neck Surg 116:597-603
-
(1997)
Otolaryngol Head Neck Surg
, vol.116
, pp. 597-603
-
-
Doyle, K.J.1
Burggraaff, B.2
Fujikawa, S.3
-
6
-
-
0017973478
-
The large vestibular aqueduct syndrome
-
Valvassori GE, Clemis JD (1978) The large vestibular aqueduct syndrome. Laryngoscope 88:723-728
-
(1978)
Laryngoscope
, vol.88
, pp. 723-728
-
-
Valvassori, G.E.1
Clemis, J.D.2
-
7
-
-
0033590712
-
Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene
-
Abe S, Usami S, Hoover DM, et al (1999) Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene. Am J Med Genet 82:322-328
-
(1999)
Am J Med Genet
, vol.82
, pp. 322-328
-
-
Abe, S.1
Usami, S.2
Hoover, D.M.3
-
8
-
-
0031956994
-
Toronto's Hospital for Sick Children study of traumatic sudden sensorineural hearing loss
-
Kou B, Macdonald R (1998) Toronto's Hospital for Sick Children study of traumatic sudden sensorineural hearing loss. J Otolaryngol 27:64-68
-
(1998)
J Otolaryngol
, vol.27
, pp. 64-68
-
-
Kou, B.1
Macdonald, R.2
-
9
-
-
0030927158
-
Normal modiolus: CT appearance in patients with a large vestibular aqueduct
-
Lemmerling MM, Mancuso AA, Antonelli PJ, et al (1997) Normal modiolus: CT appearance in patients with a large vestibular aqueduct. Radiology 204:213-219
-
(1997)
Radiology
, vol.204
, pp. 213-219
-
-
Lemmerling, M.M.1
Mancuso, A.A.2
Antonelli, P.J.3
-
10
-
-
0031135796
-
Minor works of Carlo Mondini: The anatomical section of a boy born deaf
-
Mondini C (1997) Minor works of Carlo Mondini: The anatomical section of a boy born deaf. Am J Otol 18:288-293
-
(1997)
Am J Otol
, vol.18
, pp. 288-293
-
-
Mondini, C.1
-
11
-
-
0017117578
-
Experimental viral infections of the inner ear. I. Acute infections of the newborn hamster labyrinth
-
Davis LE, Johnson RT (1976) Experimental viral infections of the inner ear. I. Acute infections of the newborn hamster labyrinth. Lab Invest 34:349-356
-
(1976)
Lab Invest
, vol.34
, pp. 349-356
-
-
Davis, L.E.1
Johnson, R.T.2
-
12
-
-
0001914032
-
Cytomegalovirus Remington
-
JS, Klein JO (eds) WB Saunders, Philadelphia
-
Stagno S (1995) Cytomegalovirus. In: Remington JS, Klein JO (eds) Infectious diseases of the fetus and newborn infant. WB Saunders, Philadelphia, pp 312-353
-
(1995)
Infectious Diseases of the Fetus and Newborn Infant
, pp. 312-353
-
-
Stagno, S.1
-
13
-
-
0025972908
-
Infectious Diseases Society of America and Centers for Disease Control. Summary of a workshop on surveillance for congenital cytomegalovirus disease
-
Demmler GJ (1991) Infectious Diseases Society of America and Centers for Disease Control. Summary of a workshop on surveillance for congenital cytomegalovirus disease. Rev Infect Dis 13:315-329
-
(1991)
Rev Infect Dis
, vol.13
, pp. 315-329
-
-
Demmler, G.J.1
-
14
-
-
0036791150
-
Predictors of hearing loss in children with symptomatic congenital cytomegalovirus infection
-
Rivera LB, Boppana SB, Fowler KB, et al (2002) Predictors of hearing loss in children with symptomatic congenital cytomegalovirus infection. Pediatrics 110:762-767
-
(2002)
Pediatrics
, vol.110
, pp. 762-767
-
-
Rivera, L.B.1
Boppana, S.B.2
Fowler, K.B.3
-
15
-
-
0037233959
-
A wider role for congenital cytomegalovirus infection in sensorineural hearing loss
-
Barbi M, Binda S, Caroppo S, et al (2003) A wider role for congenital cytomegalovirus infection in sensorineural hearing loss. Pediatr Infect Dis J 22:39-42
-
(2003)
Pediatr Infect Dis J
, vol.22
, pp. 39-42
-
-
Barbi, M.1
Binda, S.2
Caroppo, S.3
-
17
-
-
0023519475
-
Recovery and probable persistence of cytomegalovirus in human inner ear fluid without cochlear damage
-
Davis LE, Rarey KE, Stewart JA, et al (1987) Recovery and probable persistence of cytomegalovirus in human inner ear fluid without cochlear damage. Ann Otol Rhinol Laryngol 96:380-383
-
(1987)
Ann Otol Rhinol Laryngol
, vol.96
, pp. 380-383
-
-
Davis, L.E.1
Rarey, K.E.2
Stewart, J.A.3
-
18
-
-
0037211794
-
Detection of human cytomegalovirus DNA in perilymph of patients with sensorineural hearing loss using real-time PCR
-
Sugiura S, Yoshikawa T, Nishiyama Y, et al (2004) Detection of human cytomegalovirus DNA in perilymph of patients with sensorineural hearing loss using real-time PCR. J Med Virol 69:72-75
-
(2004)
J Med Virol
, vol.69
, pp. 72-75
-
-
Sugiura, S.1
Yoshikawa, T.2
Nishiyama, Y.3
-
19
-
-
0042243568
-
Effect of ganciclovir therapy on hearing in symptomatic congenital cytomegalovirus disease involving the central nervous system: A randomized, controlled trial
-
Kimberlin DW, Lin CY, Sanchez PJ, et al (2003) Effect of ganciclovir therapy on hearing in symptomatic congenital cytomegalovirus disease involving the central nervous system: A randomized, controlled trial. J Pediatr 143:16-25
-
(2003)
J Pediatr
, vol.143
, pp. 16-25
-
-
Kimberlin, D.W.1
Lin, C.Y.2
Sanchez, P.J.3
-
20
-
-
0037237388
-
Fetal cytomegalovirus infection of the brain: The spectrum of sonographic findings
-
Malinger G, Lev D, Zahalka N, et al (2003) Fetal cytomegalovirus infection of the brain: The spectrum of sonographic findings. AJNR 24:28-32
-
(2003)
AJNR
, vol.24
, pp. 28-32
-
-
Malinger, G.1
Lev, D.2
Zahalka, N.3
-
21
-
-
0031004269
-
Neuroradiographic findings in the newborn period and long-term outcome in children with symptomatic congenital cytomegalovirus infection
-
Boppana SB, Fowler KB, Vaid Y, et al (1997) Neuroradiographic findings in the newborn period and long-term outcome in children with symptomatic congenital cytomegalovirus infection. Pediatrics 99:409-414
-
(1997)
Pediatrics
, vol.99
, pp. 409-414
-
-
Boppana, S.B.1
Fowler, K.B.2
Vaid, Y.3
-
22
-
-
0028226833
-
Congenital cytomegalovirus infection of the brain: Imaging analysis and embryologic considerations
-
Barkovich AJ, Lindan CE (1994) Congenital cytomegalovirus infection of the brain: Imaging analysis and embryologic considerations. AJNR 15:703-715
-
(1994)
AJNR
, vol.15
, pp. 703-715
-
-
Barkovich, A.J.1
Lindan, C.E.2
-
23
-
-
1642540063
-
Pattern of white matter abnormalities at MR imaging: Use of polymerase chain reaction testing of Guthrie cards to link pattern with congenital cytomegalovirus infection
-
van der Knaap MS, Vermeulen G, Barkhof F, et al (2004) Pattern of white matter abnormalities at MR imaging: Use of polymerase chain reaction testing of Guthrie cards to link pattern with congenital cytomegalovirus infection. Radiology 230:529-536
-
(2004)
Radiology
, vol.230
, pp. 529-536
-
-
van der Knaap, M.S.1
Vermeulen, G.2
Barkhof, F.3
-
25
-
-
0032914840
-
Etiology of hearing loss in children. Nongenetic causes
-
Roizen NJ (1999) Etiology of hearing loss in children. Nongenetic causes. Pediatr Clin North Am 46:49-64
-
(1999)
Pediatr Clin North Am
, vol.46
, pp. 49-64
-
-
Roizen, N.J.1
-
27
-
-
0036657065
-
Temporal bone pathology in fetuses exposed to isotretinoin
-
Moerike S, Pantzar JT, De Sa D (2002) Temporal bone pathology in fetuses exposed to isotretinoin. Pediatr Dev Pathol 5:405-409
-
(2002)
Pediatr Dev Pathol
, vol.5
, pp. 405-409
-
-
Moerike, S.1
Pantzar, J.T.2
De Sa, D.3
-
28
-
-
33750707289
-
Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement
-
ACMG
-
ACMG (2002) Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement. Genet Med 4:162-171
-
(2002)
Genet Med
, vol.4
, pp. 162-171
-
-
-
29
-
-
0035433966
-
Syndromic ear anomalies and renal ultrasounds
-
Wang RY, Earl DL, Ruder RO, et al (2001) Syndromic ear anomalies and renal ultrasounds. Pediatrics 108:E32
-
(2001)
Pediatrics
, vol.108
-
-
Wang, R.Y.1
Earl, D.L.2
Ruder, R.O.3
-
30
-
-
0016880752
-
Familial branchio-oto-renal dysplasia: A new addition to the branchial arch syndromes
-
Melnick M, Bixler D, Nance WE, et al (1976) Familial branchio-oto-renal dysplasia: A new addition to the branchial arch syndromes. Clin Genet 9:25-34
-
(1976)
Clin Genet
, vol.9
, pp. 25-34
-
-
Melnick, M.1
Bixler, D.2
Nance, W.E.3
-
31
-
-
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, et al (1997) A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet 15:157-164
-
(1997)
Nat Genet
, vol.15
, pp. 157-164
-
-
Abdelhak, S.1
Kalatzis, V.2
Heilig, R.3
-
32
-
-
0036197558
-
Temporal bone anomalies in the branchio-oto-renal syndrome: Detailed computed tomographic and magnetic resonance imaging findings
-
Ceruti S, Stinckens C, Cremers CW, et al (2002) Temporal bone anomalies in the branchio-oto-renal syndrome: Detailed computed tomographic and magnetic resonance imaging findings. Otol Neurotol 23:200-207
-
(2002)
Otol Neurotol
, vol.23
, pp. 200-207
-
-
Ceruti, S.1
Stinckens, C.2
Cremers, C.W.3
-
33
-
-
0025907819
-
Temporal bone findings in a family with branchio-oto-renal syndrome (BOR)
-
Ostri B, Johnsen T, Bergmann I (1991) Temporal bone findings in a family with branchio-oto-renal syndrome (BOR). Clin Otolaryngol 16:163-167
-
(1991)
Clin Otolaryngol
, vol.16
, pp. 163-167
-
-
Ostri, B.1
Johnsen, T.2
Bergmann, I.3
-
35
-
-
76949125703
-
A new syndrome combining developmental anomalies of the eyelids, eyebrows, and nose root with pigmentary defects of the iris and head hair with congenital deafness
-
Waardenburg PJ (1951) A new syndrome combining developmental anomalies of the eyelids, eyebrows, and nose root with pigmentary defects of the iris and head hair with congenital deafness. Am J Hum Genet 3:195-253
-
(1951)
Am J Hum Genet
, vol.3
, pp. 195-253
-
-
Waardenburg, P.J.1
-
36
-
-
0020694438
-
Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III)
-
Klein D (1983) Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III). Am J Med Genet 14:231-239
-
(1983)
Am J Med Genet
, vol.14
, pp. 231-239
-
-
Klein, D.1
-
37
-
-
0019406679
-
White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: Possible variant of Waardenburg syndrome
-
Shah KN, Dalal SJ, Desai MP, et al (1981) White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: Possible variant of Waardenburg syndrome. J Pediatr 99:432-435
-
(1981)
J Pediatr
, vol.99
, pp. 432-435
-
-
Shah, K.N.1
Dalal, S.J.2
Desai, M.P.3
-
38
-
-
0034641596
-
Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome
-
Bondurand N, Pingault V, Goerich DE, et al (2000) Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Hum Mol Genet 9:1907-1917
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1907-1917
-
-
Bondurand, N.1
Pingault, V.2
Goerich, D.E.3
-
39
-
-
0032896998
-
Beginning of a molecular era in hearing and deafness
-
Robertson NG, Morton CC (1999) Beginning of a molecular era in hearing and deafness. Clin Genet 55:149-159
-
(1999)
Clin Genet
, vol.55
, pp. 149-159
-
-
Robertson, N.G.1
Morton, C.C.2
-
40
-
-
0024314157
-
Another role for melanocytes: Their importance for normal stria vascularis development in the mammalian inner ear
-
Steel KP, Barkway C (1989) Another role for melanocytes: Their importance for normal stria vascularis development in the mammalian inner ear. Development 107:453-463
-
(1989)
Development
, vol.107
, pp. 453-463
-
-
Steel, K.P.1
Barkway, C.2
-
41
-
-
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 (1992) Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 355:635-636
-
(1992)
Nature
, vol.355
, pp. 635-636
-
-
Tassabehji, M.1
Read, A.P.2
Newton, V.E.3
-
42
-
-
0027439075
-
Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)
-
Hoth CF, Milunsky A, Lipsky N, et al (1993) Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am J Hum Genet 52:455-462
-
(1993)
Am J Hum Genet
, vol.52
, pp. 455-462
-
-
Hoth, C.F.1
Milunsky, A.2
Lipsky, N.3
-
43
-
-
0027943189
-
Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene
-
Tassabehji M, Newton VE, Read AP (1994) Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet 8:251-255
-
(1994)
Nat Genet
, vol.8
, pp. 251-255
-
-
Tassabehji, M.1
Newton, V.E.2
Read, A.P.3
-
44
-
-
0028618372
-
A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease
-
Puffenberger EG, Hosoda K, Washington SS, et al (1994) A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 79:1257-1266
-
(1994)
Cell
, vol.79
, pp. 1257-1266
-
-
Puffenberger, E.G.1
Hosoda, K.2
Washington, S.S.3
-
45
-
-
0006457459
-
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
-
Edery P, Attie T, Amiel J, et al (1996) Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet 12:442-444
-
(1996)
Nat Genet
, vol.12
, pp. 442-444
-
-
Edery, P.1
Attie, T.2
Amiel, J.3
-
46
-
-
17344366171
-
SOX10 mutations in patients with Waardenburg-Hirschsprung disease
-
Pingault V, Bondurand N, Kuhlbrodt K, et al (1998) SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet 18:171-173
-
(1998)
Nat Genet
, vol.18
, pp. 171-173
-
-
Pingault, V.1
Bondurand, N.2
Kuhlbrodt, K.3
-
47
-
-
0026675412
-
Aplasia of posterior semicircular canal in Waardenburg syndrome type II
-
Higashi K, Matsuki C, Sarashina N (1992) Aplasia of posterior semicircular canal in Waardenburg syndrome type II. J Otolaryngol 21:262-264
-
(1992)
J Otolaryngol
, vol.21
, pp. 262-264
-
-
Higashi, K.1
Matsuki, C.2
Sarashina, N.3
-
48
-
-
0242575730
-
Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome
-
Madden C, Halsted MJ, Hopkin RJ, et al (2003) Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome. Laryngoscope 113:2035-2041
-
(2003)
Laryngoscope
, vol.113
, pp. 2035-2041
-
-
Madden, C.1
Halsted, M.J.2
Hopkin, R.J.3
-
50
-
-
16944366606
-
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
-
Everett LA, Glaser B, Beck JC, et al (1997) Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 17:411-422
-
(1997)
Nat Genet
, vol.17
, pp. 411-422
-
-
Everett, L.A.1
Glaser, B.2
Beck, J.C.3
-
51
-
-
0034456619
-
Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome
-
Fugazzola L, Mannavola D, Cerutti N, et al (2000) Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome. J Clin Endocrinol Metab 85:2469-2475
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 2469-2475
-
-
Fugazzola, L.1
Mannavola, D.2
Cerutti, N.3
-
52
-
-
0033015606
-
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations
-
Usami S, Abe S, Weston MD, et al (1999) Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet 104:188-192
-
(1999)
Hum Genet
, vol.104
, pp. 188-192
-
-
Usami, S.1
Abe, S.2
Weston, M.D.3
-
53
-
-
1242314860
-
Enlarged endolymphatic duct and sac syndrome: Relationship between MR findings and genotype of mutation in Pendred syndrome gene
-
Naganawa S, Koshikawa T, Fukatsu H, et al (2004) Enlarged endolymphatic duct and sac syndrome: Relationship between MR findings and genotype of mutation in Pendred syndrome gene. Magn Reson Imaging 22:25-30
-
(2004)
Magn Reson Imaging
, vol.22
, pp. 25-30
-
-
Naganawa, S.1
Koshikawa, T.2
Fukatsu, H.3
-
54
-
-
0015419621
-
Fifteen cases of Pendred's syndrome. Congenital deafness and sporadic goiter
-
Illum P, Kiaer HW, Hvidberg-Hansen J, et al (1972) Fifteen cases of Pendred's syndrome. Congenital deafness and sporadic goiter. Arch Otolaryngol 96:297-304
-
(1972)
Arch Otolaryngol
, vol.96
, pp. 297-304
-
-
Illum, P.1
Kiaer, H.W.2
Hvidberg-Hansen, J.3
-
55
-
-
0022973560
-
Mondini cochlea in Pendred's syndrome. A histological study
-
Johnsen T, Jorgensen MB, Johnsen S (1986) Mondini cochlea in Pendred's syndrome. A histological study. Acta Otolaryngol 102:239-247
-
(1986)
Acta Otolaryngol
, vol.102
, pp. 239-247
-
-
Johnsen, T.1
Jorgensen, M.B.2
Johnsen, S.3
-
56
-
-
0031894359
-
Radiological malformations of the ear in Pendred syndrome
-
Phelps PD, Coffey RA, Trembath RC, et al (1998) Radiological malformations of the ear in Pendred syndrome. Clin Radiol 53:268-273
-
(1998)
Clin Radiol
, vol.53
, pp. 268-273
-
-
Phelps, P.D.1
Coffey, R.A.2
Trembath, R.C.3
-
57
-
-
0018350904
-
Colobomatous microphthalmia, heart disease, hearing loss, and mental retardatio-na syndrome
-
Hittner HM, Hirsch NJ, Kreh GM, et al (1979) Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation-a syndrome. J Pediatr Ophthalmol Strabismus 16:122-128
-
(1979)
J Pediatr Ophthalmol Strabismus
, vol.16
, pp. 122-128
-
-
Hittner, H.M.1
Hirsch, N.J.2
Kreh, G.M.3
-
58
-
-
0018348787
-
Choanal atresia and associated multiple anomalies
-
Hall BD (1979) Choanal atresia and associated multiple anomalies. J Pediatr 95:395-398
-
(1979)
J Pediatr
, vol.95
, pp. 395-398
-
-
Hall, B.D.1
-
59
-
-
0019425377
-
Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association
-
Pagon RA, Graham JM Jr, Zonana J, et al (1981) Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 99:223-227
-
(1981)
J Pediatr
, vol.99
, pp. 223-227
-
-
Pagon, R.A.1
Graham Jr., J.M.2
Zonana, J.3
-
60
-
-
14344252301
-
CHARGE syndrome: 2005
-
Carey JC (2005) CHARGE syndrome: 2005. Am J Med Genet A 133:227
-
(2005)
Am J Med Genet A
, vol.133
, pp. 227
-
-
Carey, J.C.1
-
61
-
-
4444239112
-
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
-
Vissers LE, van Ravenswaaij CM, Admiraal R, et al (2004) Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36:955-957
-
(2004)
Nat Genet
, vol.36
, pp. 955-957
-
-
Vissers, L.E.1
van Ravenswaaij, C.M.2
Admiraal, R.3
-
62
-
-
14344262552
-
Updated diagnostic criteria for CHARGE syndrome: A proposal
-
Verloes A (2005) Updated diagnostic criteria for CHARGE syndrome: A proposal. Am J Med Genet A 133:306-308
-
(2005)
Am J Med Genet A
, vol.133
, pp. 306-308
-
-
Verloes, A.1
-
63
-
-
14344258705
-
Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association
-
Arrington CB, Cowley BC, Nightingale DR, et al (2005) Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association. Am J Med Genet 133:326-330
-
(2005)
Am J Med Genet
, vol.133
, pp. 326-330
-
-
Arrington, C.B.1
Cowley, B.C.2
Nightingale, D.R.3
-
64
-
-
0031848449
-
CT of the temporal bone in the CHARGE association
-
Lemmerling M, Dhooge I, Mollet P, et al (1998) CT of the temporal bone in the CHARGE association. Neuroradiology 40:462-465
-
(1998)
Neuroradiology
, vol.40
, pp. 462-465
-
-
Lemmerling, M.1
Dhooge, I.2
Mollet, P.3
-
66
-
-
0015020582
-
X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher
-
Nance WE, Setleff R, McLeod A, et al (1971) X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher. Birth Defects Orig Artic Ser 07:64-69
-
(1971)
Birth Defects Orig Artic Ser
, vol.7
, pp. 64-69
-
-
Nance, W.E.1
Setleff, R.2
McLeod, A.3
-
67
-
-
0029162426
-
Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3
-
Bitner-Glindzicz M, Turnpenny P, Hoglund P, et al (1995) Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. Hum Mol Genet 4:1467-1469
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1467-1469
-
-
Bitner-Glindzicz, M.1
Turnpenny, P.2
Hoglund, P.3
-
68
-
-
0028988233
-
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
-
de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, et al (1995) Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 267:685-688
-
(1995)
Science
, vol.267
, pp. 685-688
-
-
de Kok, Y.J.1
van der Maarel, S.M.2
Bitner-Glindzicz, M.3
-
69
-
-
0025870974
-
X-linked deafness, stapes gushers and a distinctive defect of the inner ear
-
Phelps PD, Reardon W, Pembrey M, et al (1991) X-linked deafness, stapes gushers and a distinctive defect of the inner ear. Neuroradiology 33:326-330
-
(1991)
Neuroradiology
, vol.33
, pp. 326-330
-
-
Phelps, P.D.1
Reardon, W.2
Pembrey, M.3
-
70
-
-
0028353523
-
Computed tomographic diagnosis of X-linked congenital mixed deafness, fixation of the stapedial footplate, and perilymphatic gusher
-
Talbot JM, Wilson DF (1994) Computed tomographic diagnosis of X-linked congenital mixed deafness, fixation of the stapedial footplate, and perilymphatic gusher. Am J Otol 15:177-182
-
(1994)
Am J Otol
, vol.15
, pp. 177-182
-
-
Talbot, J.M.1
Wilson, D.F.2
-
71
-
-
3242671307
-
The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor
-
Valdez BC, Henning D, So RB, et al (2004) The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor. Proc Natl Acad Sci U S A 101:10709-10714
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 10709-10714
-
-
Valdez, B.C.1
Henning, D.2
So, R.B.3
-
72
-
-
0030070052
-
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome
-
Treacher Collins Syndrome Collaborative Group
-
Treacher Collins Syndrome Collaborative Group (1996) Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet 12:130-136
-
(1996)
Nat Genet
, vol.12
, pp. 130-136
-
-
-
73
-
-
0035097908
-
Craniofacial, temporal bone, and audiologic abnormalities in the spectrum of hemifacial microsomia
-
Rahbar R, Robson CD, Mulliken JB, et al (2001) Craniofacial, temporal bone, and audiologic abnormalities in the spectrum of hemifacial microsomia. Arch Otolaryngol Head Neck Surg 127:265-271
-
(2001)
Arch Otolaryngol Head Neck Surg
, vol.127
, pp. 265-271
-
-
Rahbar, R.1
Robson, C.D.2
Mulliken, J.B.3
-
74
-
-
18644384461
-
Inner ear abnormalities in patients with Goldenhar syndrome
-
Bisdas S, Lenarz M, Lenarz T, et al (2005) Inner ear abnormalities in patients with Goldenhar syndrome. Otol Neurotol 26:398-404
-
(2005)
Otol Neurotol
, vol.26
, pp. 398-404
-
-
Bisdas, S.1
Lenarz, M.2
Lenarz, T.3
-
76
-
-
0032858964
-
MR evaluation of vestibulocochlear anomalies associated with large endolymphatic duct and sac
-
Davidson HC, Harnsberger HR, Lemmerling MM, et al (1999) MR evaluation of vestibulocochlear anomalies associated with large endolymphatic duct and sac. AJNR 20:1435-1441
-
(1999)
AJNR
, vol.20
, pp. 1435-1441
-
-
Davidson, H.C.1
Harnsberger, H.R.2
Lemmerling, M.M.3
-
77
-
-
0030883807
-
Cochlear implants in children with congenital inner ear malformations
-
Luntz M, Balkany T, Hodges AV, et al (1997) Cochlear implants in children with congenital inner ear malformations. Arch Otolaryngol Head Neck Surg 123:974-977
-
(1997)
Arch Otolaryngol Head Neck Surg
, vol.123
, pp. 974-977
-
-
Luntz, M.1
Balkany, T.2
Hodges, A.V.3
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