Literature DB >> 22533542

Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome.

S Taşdemir, A Güzel-Ozantürk, J D Marshall, G B Collin, R K Ozgül, N Narin, M Dündar, J K Naggert.   

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Year:  2012        PMID： 22533542      PMCID： PMC3777397          DOI： 10.1111/j.1399-0004.2012.01883.x

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


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  2 in total

1.  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

2.  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
  2 in total
  5 in total

1.  A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient.

Authors:  May Sanyoura; Cédric Woudstra; George Halaby; Patrick Baz; Valérie Senée; Pierre-Jean Guillausseau; Pierre Zalloua; Cécile Julier
Journal:  Eur J Hum Genet       Date:  2013-05-08       Impact factor: 4.246

2.  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 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.  Differences in the clinical spectrum of two adolescent male patients with Alström syndrome.

Authors:  Vladimir Kuburović; Jan D Marshall; Gayle B Collin; Keith Nykamp; Nina Kuburović; Tatjana Milenković; Sanja Rakić; Milena Djuric; Jovana Ječmenica; Svetislav Milenković; Jürgen K Naggert
Journal:  Clin Dysmorphol       Date:  2013-01       Impact factor: 0.816

5.  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
  5 in total

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