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Volumn 93, Issue 3, 2008, Pages 920-924

Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome

Author keywords

[No Author keywords available]

Indexed keywords

APLASIA; ARTICLE; CHD7 GENE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CRYPTORCHISM; FEMALE; GENE; GENE MUTATION; GROWTH HORMONE DEFICIENCY; HETEROZYGOSITY; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; HYPOPLASIA; HYPOTHYROIDISM; MALE; MICROPENIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SEMICIRCULAR CANAL; SYNDROME CHARGE;

EID: 40849095911     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2007-1419     Document Type: Article
Times cited : (43)

References (20)
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  • 8
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    • Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clement-Ziza M, Delezoide AL, Aubry MC, Pelet A, Chemouny S, Cruaud C, Audollent S, Esculpavit C, Goudefroye, Ozilou C, Fredouille C, Joye N, Morichon-Delvallez N, Dumez Y, Weissenbach J, Munnich A, Amiel J, Encha-Razavi F, Lyonnet, Vekemans M, Attie-Bitach T 2006 Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet 43:211-217
    • Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clement-Ziza M, Delezoide AL, Aubry MC, Pelet A, Chemouny S, Cruaud C, Audollent S, Esculpavit C, Goudefroye, Ozilou C, Fredouille C, Joye N, Morichon-Delvallez N, Dumez Y, Weissenbach J, Munnich A, Amiel J, Encha-Razavi F, Lyonnet, Vekemans M, Attie-Bitach T 2006 Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet 43:211-217
  • 11
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    • Growth failure and pituitary function in CHARGE and VATER associations
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    • (1999) Arch Dis Child , vol.80 , pp. 167-170
    • Khadilkar, V.V.1    Cameron, F.J.2    Stanhope, R.3
  • 14
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    • Screening for CHARGE syndrome mutations in the CHD7 gene using denaturing high-performance liquid chromatography
    • Aramaki M, Udaka T, Torii C, Samejima H, Kasaki R, Takahashi T, Kosaki K 2006 Screening for CHARGE syndrome mutations in the CHD7 gene using denaturing high-performance liquid chromatography. Genet Test 10:244-251
    • (2006) Genet Test , vol.10 , pp. 244-251
    • Aramaki, M.1    Udaka, T.2    Torii, C.3    Samejima, H.4    Kasaki, R.5    Takahashi, T.6    Kosaki, K.7
  • 17
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    • Height of normal pituitary gland as a function of age evaluated by magnetic resonance imaging in children
    • Argyropoulou M, Perignon E, Brunelle F, Brauner R, Rappaport R 1991 Height of normal pituitary gland as a function of age evaluated by magnetic resonance imaging in children. Pediatr Radiol 21:247-249
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  • 18
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    • Measurement of penile and clitoral size in pre-term and term newborns, infants, and children: Toward earlier recognition of congenital endocrine disorders
    • Yokoya S, Kato K, Suwa S 1983 Measurement of penile and clitoral size in pre-term and term newborns, infants, and children: toward earlier recognition of congenital endocrine disorders. Horumon To Rinsho 31:1215-1220
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  • 20
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    • Hurd EA, Capers PL, Blauwkamp MN, Adams ME, Raphael Y, Poucher HK, Martin DM 2006 Loss of Chd7 function in gene-trapped reporter mice embryonic lethal and associated with severe defects in multiple developing tissues. Mamm Genome 18:94-104
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.