Literature DB >> 14984477

Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene.

L Titomanlio, D De Brasi, A Buoninconti, M P Sperandeo, A Pepe, G Andria, G Sebastio.   

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Year:  2004        PMID： 14984477     DOI： 10.1111/j.0009-9163.2004.00204.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  9 in total

1.  Alström Syndrome: Mutation Spectrum of ALMS1.

Authors:  Jan D Marshall; Jean Muller; Gayle B Collin; Gabriella Milan; Stephen F Kingsmore; Darrell Dinwiddie; Emily G Farrow; Neil A Miller; Francesca Favaretto; Pietro Maffei; Hélène Dollfus; Roberto Vettor; Jürgen K Naggert
Journal:  Hum Mutat       Date:  2015-05-18       Impact factor: 4.878

2.  Alms1-disrupted mice recapitulate human Alström syndrome.

Authors:  G B Collin; E Cyr; R Bronson; J D Marshall; E J Gifford; W Hicks; S A Murray; Q Y Zheng; R S Smith; P M Nishina; J K Naggert
Journal:  Hum Mol Genet       Date:  2005-07-06       Impact factor: 6.150

Review 3.  Alström syndrome: insights into the pathogenesis of metabolic disorders.

Authors:  Dorothée Girard; Nikolai Petrovsky
Journal:  Nat Rev Endocrinol       Date:  2010-12-07       Impact factor: 43.330

4.  Alstrom syndrome in four sibs from northern Jordan.

Authors:  Hanan Hamamy; Muries Barham; Abd-ElKarim Alkhawaldeh; David Cockburn; Helen Snowden; Kamel Ajlouni
Journal:  Ann Saudi Med       Date:  2006 Nov-Dec       Impact factor: 1.526

5.  Novel ALMS1 mutations in Chinese patients with Alström syndrome.

Authors:  Xiaofang Liang; Hui Li; Huajin Li; Fei Xu; Fangtian Dong; Ruifang Sui
Journal:  Mol Vis       Date:  2013-09-07       Impact factor: 2.367

Review 6.  Alstrom syndrome (OMIM 203800): a case report and literature review.

Authors:  Tisha Joy; Henian Cao; Graeme Black; Rayaz Malik; Valentine Charlton-Menys; Robert A Hegele; Paul N Durrington
Journal:  Orphanet J Rare Dis       Date:  2007-12-21       Impact factor: 4.123

Review 7.  Alström syndrome: current perspectives.

Authors:  María Álvarez-Satta; Sheila Castro-Sánchez; Diana Valverde
Journal:  Appl Clin Genet       Date:  2015-07-21

8.  Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome.

Authors:  Meng-Che Tsai; Hui-Wen Yu; Tsunglin Liu; Yen-Yin Chou; Yuan-Yow Chiou; Peng-Chieh Chen
Journal:  Front Genet       Date:  2018-04-18       Impact factor: 4.599

9.  Consensus clinical management guidelines for Alström syndrome.

Authors:  Natascia Tahani; Pietro Maffei; Hélène Dollfus; Richard Paisey; Diana Valverde; Gabriella Milan; Joan C Han; Francesca Favaretto; Shyam C Madathil; Charlotte Dawson; Matthew J Armstrong; Adrian T Warfield; Selma Düzenli; Clair A Francomano; Meral Gunay-Aygun; Francesca Dassie; Vincent Marion; Marina Valenti; Kerry Leeson-Beevers; Ann Chivers; Richard Steeds; Timothy Barrett; Tarekegn Geberhiwot
Journal:  Orphanet J Rare Dis       Date:  2020-09-21       Impact factor: 4.123
  9 in total

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