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European Journal of Human Genetics

Volumn 19, Issue 10, 2011, Pages 1108-1111

Clinical utility gene card for: Alström syndrome

(5) Marshall, Jan D a Maffei, Pietro b Beck, Sebastian c Barrett, Timothy G d Paisey, Richard B e

a JACKSON LABORATORY (United States)

b UNIVERSITY HOSPITAL OF PADOVA (Italy)

c Paediatric Practice ^* (Switzerland)

d UNIVERSITY OF BIRMINGHAM (United Kingdom)

e TORBAY HOSPITAL (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALMS1 GENE; ALSTROM SYNDROME; ARTICLE; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; COST EFFECTIVENESS ANALYSIS; DIFFERENTIAL DIAGNOSIS; DNA SEQUENCE; ETHNIC GROUP; EXON; FAMILY HISTORY; GENE; GENETIC RISK; GENETIC SCREENING; GENOTYPE; HUMAN; LIFESTYLE; PHENOTYPE; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; CARDIOMYOPATHY; CHILD; FEMALE; GENETICS; INFANT; MALE; METHODOLOGY; MUTATION; PATHOPHYSIOLOGY; PRESCHOOL CHILD; RETINA DEGENERATION;

ALMS1 PROTEIN, HUMAN; PROTEIN;

ALSTROM SYNDROME; CARDIOMYOPATHIES; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENETIC TESTING; GENOTYPE; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE; PROTEINS; RETINAL DEGENERATION; SENSITIVITY AND SPECIFICITY;

EID: 80053050304 PISSN: 10184813 EISSN: 14765438 Source Type: Journal
DOI: 10.1038/ejhg.2011.72 Document Type: Article

Times cited : (12)

References (8)

1
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- Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome
- DOI 10.1002/humu.20577
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- Marshall, J.D.¹ Hinman, E.G.² Collin, G.B.³ Beck, S.⁴ Cerqueira, R.⁵ Maffei, P.⁶ Milan, G.⁷ Zhang, W.⁸ Wilson, D.I.⁹ Hearn, T.¹⁰ Tavares, P.¹¹ Vettor, R.¹² Veronese, C.¹³ Martin, M.¹⁴ So, W.V.¹⁵ Nishina, P.M.¹⁶ Naggert, J.K.¹⁷

2
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- Alström syndrome (OMIM 203800): A case report and literature review
- Joy T, Cao H, Black G, et al. Alström syndrome (OMIM 203800): a case report and literature review. Orphanet J Rare Dis 2002; 2: 49.
- (2002) Orphanet J Rare Dis , vol.2 , pp. 49
- Joy, T.¹ Cao, H.² Black, G.³

3
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- Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome
- Hearn T, Renforth GL, Spalluto C, et al. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. Nat Genet 2002; 31: 79-83.
- (2002) Nat Genet , vol.31 , pp. 79-83
- Hearn, T.¹ Renforth, G.L.² Spalluto, C.³

4
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- Allelic heterogeneity in inbred populations: The Saudi experience with Alström syndrome as an illustrative example
- Aldahmesh MA, Abu-Safieh L, Khan AO, et al. Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example. Am J Med Genet A 2009; 149A: 662-665.
- (2009) Am J Med Genet A , vol.149 , pp. 662-665
- Aldahmesh, M.A.¹ Abu-Safieh, L.² Khan, A.O.³

5
- 79951811006
- Alström Syndrome via ALMS1 Gene Sequencing (Test #265)
- Prevention Genetics (http://preventiongenetics.com/ClinicalTesting/ TestDescriptions/alms1.pdf), Alström Syndrome via ALMS1 Gene Sequencing (Test #265).
- Prevention Genetics

6
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- Syndromic obesity and diabetes: Changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alström syndrome
- DOI 10.1210/jc.2005-2633
- Minton JA, Owen KR, Ricketts CJ, et al. Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alström syndrome. J Clin Endocrinol Metab 2006; 91: 3110-3116. (Pubitemid 44271765)
- (2006) Journal of Clinical Endocrinology and Metabolism , vol.91 , Issue.8 , pp. 3110-3116
- Minton, J.A.L.¹ Owen, K.R.² Ricketts, C.J.³ Crabtree, N.⁴ Shaikh, G.⁵ Ehtisham, S.⁶ Porter, J.R.⁷ Carey, C.⁸ Hodge, D.⁹ Paisey, R.¹⁰ Walker, M.¹¹ Barrett, T.G.¹²

7
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- Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome
- Collin GB, Marshall JD, Ikeda A, et al. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. Nat Genet 2002; 31: 74-78.
- (2002) Nat Genet , vol.31 , pp. 74-78
- Collin, G.B.¹ Marshall, J.D.² Ikeda, A.³

8
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- Alström syndrome
- Marshall JD, Beck S, Maffei P, Naggert JK: Alström syndrome. Eur J Hum Genet 2007; 15: 1193-1202.
- (2007) Eur J Hum Genet , vol.15 , pp. 1193-1202
- Marshall, J.D.¹ Beck, S.² Maffei, P.³ Naggert, J.K.⁴

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.