Literature DB >> 23612576

Clinical utility gene card for: Alström Syndrome - update 2013.

Jan D Marshall1, Pietro Maffei, Sebastian Beck, Timothy G Barrett, Richard Paisey, Jürgen K Naggert.   

Abstract

Mesh：

Year:  2013        PMID： 23612576      PMCID： PMC3798853          DOI： 10.1038/ejhg.2013.61

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


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  11 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.  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

3.  Novel Alu retrotransposon insertion leading to Alström syndrome.

Authors:  Mustafa Taşkesen; Gayle B Collin; Alexei V Evsikov; Ayşegül Güzel; R Köksal Özgül; Jan D Marshall; Jürgen K Naggert
Journal:  Hum Genet       Date:  2011-08-30       Impact factor: 4.132

4.  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

5.  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

6.  Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.

Authors:  Ines Pereiro; Bethan E Hoskins; Jan D Marshall; Gayle B Collin; Jürgen K Naggert; Teresa Piñeiro-Gallego; Eneli Oitmaa; Nicholas Katsanis; Diana Valverde; Philip L Beales
Journal:  Eur J Hum Genet       Date:  2010-12-15       Impact factor: 4.246

7.  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

8.  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

9.  Alström syndrome: genetics and clinical overview.

Authors:  Jan D Marshall; Pietro Maffei; Gayle B Collin; Jürgen K Naggert
Journal:  Curr Genomics       Date:  2011-05       Impact factor: 2.236

Review 10.  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
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  8 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.  Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader-Willi and Alström syndromes.

Authors:  Merlin G Butler; Kun Wang; Jan D Marshall; Jürgen K Naggert; Jasmine A Rethmeyer; Sumedha S Gunewardena; Ann M Manzardo
Journal:  Adv Genomics Genet       Date:  2015

3.  Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome.

Authors:  Amine Chakroun; Mariem Ben Said; Amine Ennouri; Imen Achour; Mouna Mnif; Mohamed Abid; Abdelmonem Ghorbel; Jan D Marshall; Jürgen K Naggert; Saber Masmoudi
Journal:  Eur J Med Genet       Date:  2016-08-12       Impact factor: 2.708

Review 4.  [Hereditary hearing loss: Part 2: Syndromic forms of hearing loss].

Authors:  W F Burke; T Lenarz; H Maier
Journal:  HNO       Date:  2014-10       Impact factor: 1.284

5.  CCDC114 is mutated in patient with a complex phenotype combining primary ciliary dyskinesia, sensorineural deafness, and renal disease.

Authors:  Ping Li; Yani He; Guangyan Cai; Fei Xiao; Jie Yang; Qinggang Li; Xiangmei Chen
Journal:  J Hum Genet       Date:  2018-10-05       Impact factor: 3.172

Review 6.  Monogenic Diabetes in Children and Adolescents: Recognition and Treatment Options.

Authors:  May Sanyoura; Louis H Philipson; Rochelle Naylor
Journal:  Curr Diab Rep       Date:  2018-06-22       Impact factor: 4.810

Review 7.  Alström syndrome: current perspectives.

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

8.  Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing.

Authors:  Min Kyeong Kim; Soo Heon Kwak; Shinae Kang; Hye Seung Jung; Young Min Cho; Seong Yeon Kim; Kyong Soo Park
Journal:  Diabetes Metab J       Date:  2015-10-22       Impact factor: 5.376
  8 in total

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