Literature DB >> 15689433

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy.

J Bond, K Flintoff, J Higgins, S Scott, C Bennet, J Parsons, J Mannon, H Jafri, Y Rashid, M Barrow, R Trembath, G Woodruff, E Rossa, S Lynch, J Sheilds, R Newbury-Ecob, A Falconer, P Holland, D Cockburn, G Karbani, S Malik, M Ahmed, E Roberts, G Taylor, C G Woods.   

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Year:  2005        PMID： 15689433      PMCID： PMC1735981          DOI： 10.1136/jmg.2004.026617

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


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  21 in total

1.  Exudative retinopathy in a girl with Alström syndrome due to a novel mutation.

Authors:  Devina Gogi; Jackie Bond; Vernon Long; Eammon Sheridan; C G Woods
Journal:  Br J Ophthalmol       Date:  2007-07       Impact factor: 4.638

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

3.  Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome.

Authors:  Jamal Mahamid; Avraham Lorber; Yoseph Horovitz; Stavit A Shalev; Gayle B Collin; Jürgen K Naggert; Jan D Marshall; Ronen Spiegel
Journal:  Pediatr Cardiol       Date:  2012-03-24       Impact factor: 1.655

4.  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 5.  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 6.  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

7.  Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.

Authors:  Xia Wang; Hui Wang; Ming Cao; Zhe Li; Xianfeng Chen; Claire Patenia; Athurva Gore; Emad B Abboud; Ali A Al-Rajhi; Richard A Lewis; James R Lupski; Graeme Mardon; Kun Zhang; Donna Muzny; Richard A Gibbs; Rui Chen
Journal:  Hum Mutat       Date:  2011-09-23       Impact factor: 4.878

8.  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

9.  Cardiac magnetic resonance imaging in Alström syndrome.

Authors:  Margaret A Loudon; Nicholas G Bellenger; Catherine M Carey; Richard B Paisey
Journal:  Orphanet J Rare Dis       Date:  2009-06-10       Impact factor: 4.123

Review 10.  Molecular genetic landscape of hereditary hearing loss in Pakistan.

Authors:  Sadaf Naz
Journal:  Hum Genet       Date:  2021-07-25       Impact factor: 4.132
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