Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 96

1.

Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.

Venturini G, Di Gioia SA, Harper S, Weigel-DiFranco C, Rivolta C, Berson EL.

PLoS One. 2014 Mar 20;9(3):e92479. doi: 10.1371/journal.pone.0092479. eCollection 2014.

2.
3.

Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.

Bandah-Rozenfeld D, Mizrahi-Meissonnier L, Farhy C, Obolensky A, Chowers I, Pe'er J, Merin S, Ben-Yosef T, Ashery-Padan R, Banin E, Sharon D.

Am J Hum Genet. 2010 Sep 10;87(3):382-91. doi: 10.1016/j.ajhg.2010.07.022. Epub 2010 Aug 12.

4.

Diverse clinical phenotypes associated with a nonsense mutation in FAM161A.

Rose AM, Sergouniotis P, Alfano G, Muspratt-Tucker N, Barton S, Moore AT, Black G, Bhattacharya SS, Webster AR.

Eye (Lond). 2015 Sep;29(9):1226-32. doi: 10.1038/eye.2015.93. Epub 2015 Jun 26.

5.

A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa.

Van Schil K, Klevering BJ, Leroy BP, Pott JW, Bandah-Rozenfeld D, Zonneveld-Vrieling MN, Sharon D, den Hollander AI, Cremers FP, De Baere E, Collin RW, van den Born LI.

Invest Ophthalmol Vis Sci. 2015 Nov;56(12):7418-26. doi: 10.1167/iovs.15-17920.

PMID:
26574802
6.

Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.

Langmann T, Di Gioia SA, Rau I, Stöhr H, Maksimovic NS, Corbo JC, Renner AB, Zrenner E, Kumaramanickavel G, Karlstetter M, Arsenijevic Y, Weber BH, Gal A, Rivolta C.

Am J Hum Genet. 2010 Sep 10;87(3):376-81. doi: 10.1016/j.ajhg.2010.07.018. Epub 2010 Aug 12.

7.

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.

Bandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FP, Sharon D.

Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4387-94. doi: 10.1167/iovs.09-4732. Epub 2010 Apr 7.

PMID:
20375346
8.

FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.

Di Gioia SA, Letteboer SJ, Kostic C, Bandah-Rozenfeld D, Hetterschijt L, Sharon D, Arsenijevic Y, Roepman R, Rivolta C.

Hum Mol Genet. 2012 Dec 1;21(23):5174-84. doi: 10.1093/hmg/dds368. Epub 2012 Sep 1.

PMID:
22940612
9.

FAM161A, a novel centrosomal-ciliary protein implicated in autosomal recessive retinitis pigmentosa.

Zach F, Stöhr H.

Adv Exp Med Biol. 2014;801:185-90. doi: 10.1007/978-1-4614-3209-8_24. Review.

PMID:
24664697
10.

Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.

Avila-Fernandez A, Corton M, Nishiguchi KM, Muñoz-Sanz N, Benavides-Mori B, Blanco-Kelly F, Riveiro-Alvarez R, Garcia-Sandoval B, Rivolta C, Ayuso C.

Ophthalmology. 2012 Dec;119(12):2616-21. doi: 10.1016/j.ophtha.2012.06.033. Epub 2012 Aug 20.

PMID:
22917891
11.

RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.

Audo I, Mohand-Saïd S, Dhaenens CM, Germain A, Orhan E, Antonio A, Hamel C, Sahel JA, Bhattacharya SS, Zeitz C.

Hum Mutat. 2012 Jan;33(1):73-80. doi: 10.1002/humu.21640. Epub 2011 Dec 1.

PMID:
22052604
12.

Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans.

Nevet MJ, Shalev SA, Zlotogora J, Mazzawi N, Ben-Yosef T.

J Med Genet. 2010 Aug;47(8):533-7. doi: 10.1136/jmg.2009.073619. Epub 2010 May 27.

PMID:
20507925
13.

Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration.

Karlstetter M, Sorusch N, Caramoy A, Dannhausen K, Aslanidis A, Fauser S, Boesl MR, Nagel-Wolfrum K, Tamm ER, Jägle H, Stoehr H, Wolfrum U, Langmann T.

Hum Mol Genet. 2014 Oct 1;23(19):5197-210. doi: 10.1093/hmg/ddu242. Epub 2014 May 15.

PMID:
24833722
14.

Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.

Zhou Y, Saikia BB, Jiang Z, Zhu X, Liu Y, Huang L, Kim R, Yang Y, Qu C, Hao F, Gong B, Tai Z, Niu L, Yang Z, Sundaresan P, Zhu X.

J Hum Genet. 2015 Oct;60(10):625-30. doi: 10.1038/jhg.2015.92. Epub 2015 Aug 6.

PMID:
26246154
15.

Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations.

Beryozkin A, Zelinger L, Bandah-Rozenfeld D, Harel A, Strom TA, Merin S, Chowers I, Banin E, Sharon D.

Invest Ophthalmol Vis Sci. 2013 Mar 1;54(3):2068-75. doi: 10.1167/iovs.12-11419.

PMID:
23449718
16.

Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.

Chen LJ, Lai TY, Tam PO, Chiang SW, Zhang X, Lam S, Lai RY, Lam DS, Pang CP.

Invest Ophthalmol Vis Sci. 2010 Apr;51(4):2236-42. doi: 10.1167/iovs.09-4437. Epub 2009 Nov 20.

PMID:
19933189
18.

Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.

Clark GR, Crowe P, Muszynska D, O'Prey D, O'Neill J, Alexander S, Willoughby CE, McKay GJ, Silvestri G, Simpson DA.

Ophthalmology. 2010 Nov;117(11):2169-77.e3. doi: 10.1016/j.ophtha.2010.02.029. Epub 2010 Jun 29.

PMID:
20591486
19.

Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

Riveiro-Alvarez R, Lopez-Martinez MA, Zernant J, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Gimenez A, Lopez-Molina MI, Garcia-Sandoval B, Blanco-Kelly F, Corton M, Tatu S, Fernandez-San Jose P, Trujillo-Tiebas MJ, Ramos C, Allikmets R, Ayuso C.

Ophthalmology. 2013 Nov;120(11):2332-7. doi: 10.1016/j.ophtha.2013.04.002. Epub 2013 Jun 4.

20.

Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase.

Dvir L, Srour G, Abu-Ras R, Miller B, Shalev SA, Ben-Yosef T.

Am J Hum Genet. 2010 Aug 13;87(2):258-64. doi: 10.1016/j.ajhg.2010.06.016. Epub 2010 Jul 22.

Supplemental Content

Support Center