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Items: 1 to 20 of 383

1.

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.

2.

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.

3.

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.

PMID:
18654604
4.

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.

PMID:
24503146
5.

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.

PMID:
27523285
6.

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.

7.

Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.

Katagiri S, Hayashi T, Yoshitake K, Akahori M, Ikeo K, Gekka T, Tsuneoka H, Iwata T.

Ophthalmic Genet. 2016;37(1):68-75. doi: 10.3109/13816810.2014.949380.

PMID:
25113443
8.

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. Review. Erratum in: J Hum Genet. 2015 Jan;60(1):51.

PMID:
25296579
9.

OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina.

Katagiri S, Gekka T, Hayashi T, Ida H, Ohashi T, Eto Y, Tsuneoka H.

Doc Ophthalmol. 2014 Apr;128(2):137-48. doi: 10.1007/s10633-014-9426-1.

PMID:
24429551
11.

Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).

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

Ophthalmic Genet. 2015 Jun;36(2):137-44. doi: 10.3109/13816810.2014.991932.

PMID:
25605338
12.

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
13.

Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.

Ksantini M, Lafont E, Bocquet B, Meunier I, Hamel CP.

Eur J Ophthalmol. 2012 Jul-Aug;22(4):647-53. doi: 10.5301/ejo.5000096.

14.

Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase.

Shen S, Sujirakul T, Tsang SH.

Ophthalmic Genet. 2014 Sep;35(3):142-50. doi: 10.3109/13816810.2014.915328.

15.

Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.

Haghighi A, Tiwari A, Piri N, Nürnberg G, Saleh-Gohari N, Haghighi A, Neidhardt J, Nürnberg P, Berger W.

PLoS One. 2014 Nov 13;9(11):e112747. doi: 10.1371/journal.pone.0112747.

16.

Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa.

Huang Y, Zhang J, Li C, Yang G, Liu M, Wang QK, Tang Z.

BMC Med Genet. 2010 Aug 10;11:121. doi: 10.1186/1471-2350-11-121.

17.

Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family.

Siemiatkowska AM, Astuti GD, Arimadyo K, den Hollander AI, Faradz SM, Cremers FP, Collin RW.

Mol Vis. 2012;18:2411-9.

18.

Alstrom syndrome (OMIM 203800): a case report and literature review.

Joy T, Cao H, Black G, Malik R, Charlton-Menys V, Hegele RA, Durrington PN.

Orphanet J Rare Dis. 2007 Dec 21;2:49. Review.

19.

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.

Méndez-Vidal C, González-Del Pozo M, Vela-Boza A, Santoyo-López J, López-Domingo FJ, Vázquez-Marouschek C, Dopazo J, Borrego S, Antiñolo G.

Mol Vis. 2013 Nov 7;19:2187-95.

20.

Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration.

Duncan JL, Roorda A, Navani M, Vishweswaraiah S, Syed R, Soudry S, Ratnam K, Gudiseva HV, Lee P, Gaasterland T, Ayyagari R.

Arch Ophthalmol. 2012 Oct;130(10):1301-8. doi: 10.1001/archophthalmol.2012.1906.

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