SCOPUS 정보 검색 플랫폼

American Journal of Medical Genetics

Volumn 119 A, Issue 1, 2003, Pages 71-76

Chudley-Mccullough syndrome: Expanded phenotype and review of the literature

(6) Welch, Katherine Oelrich a Tekin, Mustafa b Nance, Walter E c Blanton, Susan H d Arnos, Kathleen S a Pandya, Arti c

a GALLAUDET UNIVERSITY (United States)

b ANKARA UNIVERSITY (Turkey)

c VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE (United States)

d UNIVERSITY OF VIRGINIA HEALTH SYSTEM (United States)

Author keywords

Autosomal recessive; Foramen of Monro; Hydrocephalus; Sensorineural hearing loss; Structural brain abnormalities

Indexed keywords

ADOLESCENT; AUDIOLOGY; AUTOSOMAL RECESSIVE DISORDER; BRAIN ARACHNOID CYST; BRAIN MALFORMATION; BRAIN NERVE CELL; BRAIN VENTRICLE; BRAIN VENTRICLE DILATATION; CASE REPORT; CELL MIGRATION; CEREBELLUM CORTEX; CHUDLEY MCCULLOUGH SYNDROME; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CORPUS CALLOSUM AGENESIS; DNA EXTRACTION; DNA SEQUENCE; EVOKED BRAIN STEM AUDITORY RESPONSE; FEMALE; FORAMEN OF MONRO; HUMAN; HYDROCEPHALUS; LINKAGE ANALYSIS; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; REVIEW;

ARACHNOIDEA;

EID: 0041320751 PISSN: 15524825 EISSN: None Source Type: Journal
DOI: 10.1002/ajmg.a.10180 Document Type: Review

Times cited : (14)

References (5)

1
- 0035168168
- Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CEH23
- Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Wilcox ER, Friedman TB, Morell RJ. 2001. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CEH23. Am J Hum Genet 68:26-37.
- (2001) Am J Hum Genet , vol.68 , pp. 26-37
- Bork, J.M.¹ Peters, L.M.² Riazuddin, S.³ Bernstein, S.L.⁴ Ahmed, Z.M.⁵ Ness, S.L.⁶ Polomeno, R.⁷ Ramesh, A.⁸ Schloss, M.⁹ Srisailpathy, C.R.¹⁰ Wayne, S.¹¹ Bellman, S.¹² Desmukh, D.¹³ Ahmed, Z.¹⁴ Khan, S.N.¹⁵ Kaloustian, V.M.¹⁶ Li, X.C.¹⁷ Lalwani, A.¹⁸ Riazuddin, S.¹⁹ Bitner-Glindzicz, M.²⁰ more..

2
- 0031052947
- Bilateral sensorineural deafness and hydrocephalus due to foramen of monro obstruction in sibs: A newly described autosomal recessive disorder
- Chudley AD, McCullough C, McCullough DW. 1997. Bilateral sensorineural deafness and hydrocephalus due to foramen of monro obstruction in sibs: A newly described autosomal recessive disorder. Am J Med Genet 68:350-356.
- (1997) Am J Med Genet , vol.68 , pp. 350-356
- Chudley, A.D.¹ McCullough, C.² McCullough, D.W.³

3
- 0033543482
- Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters
- Hendricks YMC, Laan LAEM, Vielvoye GJ, van Haeringen A. 1999. Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters. Am J Med Genet 86:183-186.
- (1999) Am J Med Genet , vol.86 , pp. 183-186
- Hendricks, Y.M.C.¹ Laan, L.A.E.M.² Vielvoye, G.J.³ Van Haeringen, A.⁴

4
- 0034677217
- Chudley-McCullough syndrome: Bilateral sensorineural deafness, hydrocephalus, and other structural brain abnormalities
- Lemire EG, Stoeber GP. 2000. Chudley-McCullough syndrome: Bilateral sensorineural deafness, hydrocephalus, and other structural brain abnormalities. Am J Med Genet 90:127-130.
- (2000) Am J Med Genet , vol.90 , pp. 127-130
- Lemire, E.G.¹ Stoeber, G.P.²

5
- 0034949521
- Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene
- Weller S, Gartner J. 2001. Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene. Hum Mutat 181-212.
- (2001) Hum Mutat , pp. 181-212
- Weller, S.¹ Gartner, J.²

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.