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Items: 12

1.

Late onset retinitis pigmentosa.

Avila-Fernández A, Cortón M, López-Molina MI, Martín-Garrido E, Cantalapiedra D, Fernández-Sánchez R, Blanco-Kelly F, Riveiro-Álvarez R, Tatu SD, Trujillo-Tiebas MJ, García-Sandoval B, Ayuso C, Cremers FP.

Ophthalmology. 2011 Dec;118(12):2523-4. doi: 10.1016/j.ophtha.2011.07.030. No abstract available.

PMID:
22136677
2.

Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.

Mackay DS, Ocaka LA, Borman AD, Sergouniotis PI, Henderson RH, Moradi P, Robson AG, Thompson DA, Webster AR, Moore AT.

Invest Ophthalmol Vis Sci. 2011 May 9;52(6):3032-8. doi: 10.1167/iovs.10-7025.

PMID:
21310915
3.

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Perrault I, Hanein S, Gerard X, Delphin N, Fares-Taie L, Gerber S, Pelletier V, Mercé E, Dollfus H, Puech B, Defoort-Dhellemmes S, Petersen MD, Zafeiriou D, Munnich A, Kaplan J, Roche O, Rozet JM.

Hum Mutat. 2010 Mar;31(3):E1241-50. doi: 10.1002/humu.21203.

PMID:
20104588
4.
5.

A novel gene, RSD-3/HSD-3.1, encodes a meiotic-related protein expressed in rat and human testis.

Zhang X, Liu H, Zhang Y, Qiao Y, Miao S, Wang L, Zhang J, Zong S, Koide SS.

J Mol Med (Berl). 2003 Jun;81(6):380-7. Epub 2003 May 8.

PMID:
12736779
6.

A novel locus for Leber congenital amaurosis on chromosome 14q24.

Stockton DW, Lewis RA, Abboud EB, Al-Rajhi A, Jabak M, Anderson KL, Lupski JR.

Hum Genet. 1998 Sep;103(3):328-33.

PMID:
9799089
7.

Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.

Wang H, den Hollander AI, Moayedi Y, Abulimiti A, Li Y, Collin RW, Hoyng CB, Lopez I, Abboud EB, Al-Rajhi AA, Bray M, Lewis RA, Lupski JR, Mardon G, Koenekoop RK, Chen R.

Am J Hum Genet. 2009 Mar;84(3):380-7. doi: 10.1016/j.ajhg.2009.02.005. Epub 2009 Mar 5. Erratum in: Am J Hum Genet. 2010 Feb;86(2):293. Abboud, Emad B [added]; Al-Rajhi, Ali A [added].

8.

Whole genome association scan for genetic polymorphisms influencing information processing speed.

Luciano M, Hansell NK, Lahti J, Davies G, Medland SE, Räikkönen K, Tenesa A, Widen E, McGhee KA, Palotie A, Liewald D, Porteous DJ, Starr JM, Montgomery GW, Martin NG, Eriksson JG, Wright MJ, Deary IJ.

Biol Psychol. 2011 Mar;86(3):193-202. doi: 10.1016/j.biopsycho.2010.11.008. Epub 2010 Dec 3.

9.

Leber Congenital Amaurosis.

Weleber RG, Francis PJ, Trzupek KM, Beattie C.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2004 Jul 7 [updated 2013 May 2].

10.

Genetics of coronary artery calcification among African Americans, a meta-analysis.

Wojczynski MK, Li M, Bielak LF, Kerr KF, Reiner AP, Wong ND, Yanek LR, Qu L, White CC, Lange LA, Ferguson JF, He J, Young T, Mosley TH, Smith JA, Kral BG, Guo X, Wong Q, Ganesh SK, Heckbert SR, Griswold ME, O'Leary DH, Budoff M, Carr JJ, Taylor HA Jr, Bluemke DA, Demissie S, Hwang SJ, Paltoo DN, Polak JF, Psaty BM, Becker DM, Province MA, Post WS, O'Donnell CJ, Wilson JG, Harris TB, Kavousi M, Cupples LA, Rotter JI, Fornage M, Becker LC, Peyser PA, Borecki IB, Reilly MP.

BMC Med Genet. 2013 Jul 19;14:75. doi: 10.1186/1471-2350-14-75.

11.

Nonsyndromic Retinitis Pigmentosa Overview.

Fahim AT, Daiger SP, Weleber RG.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2000 Aug 4 [updated 2017 Jan 19].

12.

Mapping of chimpanzee full-length cDNAs onto the human genome unveils large potential divergence of the transcriptome.

Sakate R, Suto Y, Imanishi T, Tanoue T, Hida M, Hayasaka I, Kusuda J, Gojobori T, Hashimoto K, Hirai M.

Gene. 2007 Sep 1;399(1):1-10. Epub 2007 Apr 20.

PMID:
17574350

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