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Items: 1 to 20 of 119

1.

Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria.

Casey J, McGettigan P, Brosnahan D, Curtis E, Treacy E, Ennis S, Lynch SA.

Eur J Med Genet. 2014 Feb;57(2-3):55-9. doi: 10.1016/j.ejmg.2014.01.007. Epub 2014 Feb 3.

PMID:
24503146
2.

Exome sequencing establishes diagnosis of Alström syndrome in an infant presenting with non-syndromic dilated cardiomyopathy.

Long PA, Evans JM, Olson TM.

Am J Med Genet A. 2015 Apr;167A(4):886-90. doi: 10.1002/ajmg.a.36994. Epub 2015 Feb 23.

3.

Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome.

Katagiri S, Yoshitake K, Akahori M, Hayashi T, Furuno M, Nishino J, Ikeo K, Tsuneoka H, Iwata T.

Mol Vis. 2013 Nov 24;19:2393-406. eCollection 2013.

4.

Novel ALMS1 mutations in Chinese patients with Alström syndrome.

Liang X, Li H, Li H, Xu F, Dong F, Sui R.

Mol Vis. 2013 Sep 7;19:1885-91. eCollection 2013.

5.

Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing.

Aliferis K, Hellé S, Gyapay G, Duchatelet S, Stoetzel C, Mandel JL, Dollfus H.

Ophthalmic Genet. 2012 Mar;33(1):18-22. doi: 10.3109/13816810.2011.620055. Epub 2011 Oct 17.

PMID:
22004009
6.

Identification of a novel ALMS1 mutation in a Chinese family with Alström syndrome.

Liu L, Dong B, Chen X, Li J, Li Y.

Eye (Lond). 2009 May;23(5):1210-2. doi: 10.1038/eye.2008.235. Epub 2008 Jul 25.

PMID:
18654604
7.

Alström Syndrome: Mutation Spectrum of ALMS1.

Marshall JD, Muller J, Collin GB, Milan G, Kingsmore SF, Dinwiddie D, Farrow EG, Miller NA, Favaretto F, Maffei P, Dollfus H, Vettor R, Naggert JK.

Hum Mutat. 2015 Jul;36(7):660-8. doi: 10.1002/humu.22796. Epub 2015 May 18.

8.

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

Chakroun A, Ben Said M, Ennouri A, Achour I, Mnif M, Abid M, Ghorbel A, Marshall JD, Naggert JK, Masmoudi S.

Eur J Med Genet. 2016 Sep;59(9):444-51. doi: 10.1016/j.ejmg.2016.08.004. Epub 2016 Aug 12.

PMID:
27523285
9.

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

Mahamid J, Lorber A, Horovitz Y, Shalev SA, Collin GB, Naggert JK, Marshall JD, Spiegel R.

Pediatr Cardiol. 2013 Feb;34(2):455-8. doi: 10.1007/s00246-012-0296-6. Epub 2012 Mar 24.

10.

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

Piñeiro-Gallego T, Cortón M, Ayuso C, Baiget M, Valverde D.

Mol Vis. 2012;18:1794-802. Epub 2012 Jul 3.

11.

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

Ozantürk A, Marshall JD, Collin GB, Düzenli S, Marshall RP, Candan Ş, Tos T, Esen İ, Taşkesen M, Çayır A, Öztürk Ş, Üstün İ, Ataman E, Karaca E, Özdemir TR, Erol İ, Eroğlu FK, Torun D, Parıltay E, Yılmaz-Güleç E, Karaca E, Atabek ME, Elçioğlu N, Satman İ, Möller C, Muller J, Naggert JK, Özgül RK.

J Hum Genet. 2015 Jan;60(1):1-9. doi: 10.1038/jhg.2014.85. Epub 2014 Oct 9. Review. Erratum in: J Hum Genet. 2015 Jan;60(1):51.

12.

A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome.

Laxer C, Rahman SA, Sherif M, Tahir S, Cayir A, Demirbilek H, Hussain K.

J Pediatr Endocrinol Metab. 2016 May 1;29(5):585-9. doi: 10.1515/jpem-2015-0249.

PMID:
26910739
13.

Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome.

Ozgül RK, Satman I, Collin GB, Hinman EG, Marshall JD, Kocaman O, Tütüncü Y, Yilmaz T, Naggert JK.

Clin Genet. 2007 Oct;72(4):351-6.

PMID:
17850632
14.

Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.

Lazar CH, Kimchi A, Namburi P, Mutsuddi M, Zelinger L, Beryozkin A, Ben-Simhon S, Obolensky A, Ben-Neriah Z, Argov Z, Pikarsky E, Fellig Y, Marks-Ohana D, Ratnapriya R, Banin E, Sharon D, Swaroop A.

Hum Mutat. 2015 Sep;36(9):836-41. doi: 10.1002/humu.22822. Epub 2015 Jul 14.

15.

Diabetes in the young - a case of Alström syndrome with myopathy.

Bronson SC, Anand Moses CR, Periyandavar I, Dharmarajan P, Suresh E, Shanmugam A, Vasuki R, Venkatesh D, Amudha J.

J R Coll Physicians Edinb. 2015 Mar;45(1):33-7. doi: 10.4997/JRCPE.2015.108.

PMID:
25874828
17.

Cilia, Alström syndrome--molecular mechanisms and therapeutic perspectives.

Mihai CM, Catrinoiu D, Marshall J, Stoicescu R, Tofolean IT.

J Med Life. 2008 Jul-Sep;1(3):254-61. Review.

PMID:
20108502
18.

Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings.

Louw JJ, Corveleyn A, Jia Y, Iqbal S, Boshoff D, Gewillig M, Peeters H, Moerman P, Devriendt K.

Eur J Med Genet. 2014 Sep;57(9):532-5. doi: 10.1016/j.ejmg.2014.06.004. Epub 2014 Jun 24.

PMID:
24972238
19.

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

Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, Chiurazzi P, Lacombe D, Ouertani I, Petit F, Till M, Verloes A, Jost B, Chaabouni HB, Dollfus H, Mandel JL, Muller J.

J Med Genet. 2012 Aug;49(8):502-12. doi: 10.1136/jmedgenet-2012-100875. Epub 2012 Jul 7.

20.

Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy.

Zhang M, Chen J, Si D, Zheng Y, Jiao H, Feng Z, Hu Z, Duan R.

BMC Med Genet. 2014 Jul 5;15:77. doi: 10.1186/1471-2350-15-77.

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