Literature DB >> 21522186

Clinical utility gene card for: Alström syndrome.

Jan D Marshall1, Pietro Maffei, Sebastian Beck, Timothy G Barrett, Richard B Paisey.   

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Year:  2011        PMID： 21522186      PMCID： PMC3190258          DOI： 10.1038/ejhg.2011.72

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  7 in total

1.  Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome.

Authors:  Tom Hearn; Glenn L Renforth; Cosma Spalluto; Neil A Hanley; Karen Piper; Sarah Brickwood; Chris White; Vincent Connolly; James F N Taylor; Isabelle Russell-Eggitt; Dominque Bonneau; Mark Walker; David I Wilson
Journal:  Nat Genet       Date:  2002-04-08       Impact factor: 38.330

2.  Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome.

Authors:  J A L Minton; K R Owen; C J Ricketts; N Crabtree; G Shaikh; S Ehtisham; J R Porter; C Carey; D Hodge; R Paisey; M Walker; T G Barrett
Journal:  J Clin Endocrinol Metab       Date:  2006-05-23       Impact factor: 5.958

3.  Alström syndrome.

Authors:  Jan D Marshall; Sebastian Beck; Pietro Maffei; Jürgen K Naggert
Journal:  Eur J Hum Genet       Date:  2007-10-17       Impact factor: 4.246

4.  Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example.

Authors:  Mohamed A Aldahmesh; Leen Abu-Safieh; Arif O Khan; Zuhair N Al-Hassnan; Ranad Shaheen; Mohammed Rajab; Dorota Monies; Brian F Meyer; Fowzan S Alkuraya
Journal:  Am J Med Genet A       Date:  2009-02-15       Impact factor: 2.802

5.  Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.

Authors:  Gayle B Collin; Jan D Marshall; Akihiro Ikeda; W Venus So; Isabelle Russell-Eggitt; Pietro Maffei; Sebastian Beck; Cornelius F Boerkoel; Nicola Sicolo; Mitchell Martin; Patsy M Nishina; Jürgen K Naggert
Journal:  Nat Genet       Date:  2002-04-08       Impact factor: 38.330

6.  Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.

Authors:  Jan D Marshall; Elizabeth G Hinman; Gayle B Collin; Sebastian Beck; Rita Cerqueira; Pietro Maffei; Gabriella Milan; Weidong Zhang; David I Wilson; Tom Hearn; Purificação Tavares; Roberto Vettor; Caterina Veronese; Mitchell Martin; W Venus So; Patsy M Nishina; Jürgen K Naggert
Journal:  Hum Mutat       Date:  2007-11       Impact factor: 4.878

Review 7.  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
  7 in total
  6 in total

Review 1.  The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.

Authors:  Ayşegül Ozantürk; Jan D Marshall; Gayle B Collin; Selma Düzenli; Robert P Marshall; Şükrü Candan; Tülay Tos; İhsan Esen; Mustafa Taşkesen; Atilla Çayır; Şükrü Öztürk; İhsan Üstün; Esra Ataman; Emin Karaca; Taha Reşid Özdemir; İlknur Erol; Fehime Kara Eroğlu; Deniz Torun; Erhan Parıltay; Elif Yılmaz-Güleç; Ender Karaca; M Emre Atabek; Nursel Elçioğlu; İlhan Satman; Claes Möller; Jean Muller; Jürgen K Naggert; Rıza Köksal Özgül
Journal:  J Hum Genet       Date:  2014-10-09       Impact factor: 3.172

Review 2.  A Review of Secondary Photoreceptor Degenerations in Systemic Disease.

Authors:  Naveen Mysore; Jamie Koenekoop; Shen Li; Huanan Ren; Vafa Keser; Irma Lopez-Solache; Robert K Koenekoop
Journal:  Cold Spring Harb Perspect Med       Date:  2014-12-04       Impact factor: 6.915

3.  Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

Authors:  Claire Redin; Stéphanie Le Gras; Oussema Mhamdi; Véronique Geoffroy; Corinne Stoetzel; Marie-Claire Vincent; Pietro Chiurazzi; Didier Lacombe; Ines Ouertani; Florence Petit; Marianne Till; Alain Verloes; Bernard Jost; Habiba Bouhamed Chaabouni; Helene Dollfus; Jean-Louis Mandel; Jean Muller
Journal:  J Med Genet       Date:  2012-07-07       Impact factor: 6.318

4.  Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.

Authors:  Teresa Piñeiro-Gallego; Marta Cortón; Carmen Ayuso; Montserrat Baiget; Diana Valverde
Journal:  Mol Vis       Date:  2012-07-03       Impact factor: 2.367

Review 5.  New Roles of the Primary Cilium in Autophagy.

Authors:  Yenniffer Ávalos; Daniel Peña-Oyarzun; Mauricio Budini; Eugenia Morselli; Alfredo Criollo
Journal:  Biomed Res Int       Date:  2017-08-23       Impact factor: 3.411

Review 6.  Mouse models of ciliopathies: the state of the art.

Authors:  Dominic P Norris; Daniel T Grimes
Journal:  Dis Model Mech       Date:  2012-05       Impact factor: 5.758
  6 in total

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