Literature DB >> 10882760

Alstrom syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs.

U Zumsteg, P Y Muller, A R Miserez.   

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Year:  2000        PMID： 10882760      PMCID： PMC1734624          DOI： 10.1136/jmg.37.7.e8

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 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

Review 2.  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

Review 3.  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

4.  Alström syndrome is associated with short stature and reduced GH reserve.

Authors:  S Romano; P Maffei; V Bettini; G Milan; F Favaretto; M Gardiman; J D Marshall; N A Greggio; G B Pozzan; G B Collin; J K Naggert; R Bronson; R Vettor
Journal:  Clin Endocrinol (Oxf)       Date:  2013-03-26       Impact factor: 3.478

5.  Genes involved in type 1 diabetes: an update.

Authors:  Marina Bakay; Rahul Pandey; Hakon Hakonarson
Journal:  Genes (Basel)       Date:  2013-09-16       Impact factor: 4.096
  5 in total

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