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Items: 1 to 20 of 281

1.

Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36.

Schuermann MJ, Otto E, Becker A, Saar K, Rüschendorf F, Polak BC, Ala-Mello S, Hoefele J, Wiedensohler A, Haller M, Omran H, Nürnberg P, Hildebrandt F.

Am J Hum Genet. 2002 May;70(5):1240-6. Epub 2002 Mar 27.

2.

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.

Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhäger R, Sudbrak R, Hennies HC, Nürnberg P, Hildebrandt F.

Am J Hum Genet. 2002 Nov;71(5):1161-7. Epub 2002 Aug 29.

3.

Mapping of a gene for familial juvenile nephronophthisis: refining the map and defining flanking markers on chromosome 2. APN Study Group.

Hildebrandt F, Singh-Sawhney I, Schnieders B, Centofante L, Omran H, Pohlmann A, Schmaltz C, Wedekind H, Schubotz C, Antignac C, et al.

Am J Hum Genet. 1993 Dec;53(6):1256-61.

4.

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

Otto EA, Tory K, Attanasio M, Zhou W, Chaki M, Paruchuri Y, Wise EL, Wolf MT, Utsch B, Becker C, Nürnberg G, Nürnberg P, Nayir A, Saunier S, Antignac C, Hildebrandt F.

J Med Genet. 2009 Oct;46(10):663-70. doi: 10.1136/jmg.2009.066613. Epub 2009 Jun 8.

PMID:
19508969
5.

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.

Otto EA, Helou J, Allen SJ, O'Toole JF, Wise EL, Ashraf S, Attanasio M, Zhou W, Wolf MT, Hildebrandt F.

Hum Mutat. 2008 Mar;29(3):418-26.

6.

Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene.

Omran H, Sasmaz G, Häffner K, Volz A, Olbrich H, Melkaoui R, Otto E, Wienker TF, Korinthenberg R, Brandis M, Antignac C, Hildebrandt F.

J Am Soc Nephrol. 2002 Jan;13(1):75-9.

7.

An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q.

Bardien S, Ebenezer N, Greenberg J, Inglehearn CF, Bartmann L, Goliath R, Beighton P, Ramesar R, Bhattacharya SS.

Hum Mol Genet. 1995 Aug;4(8):1459-62.

PMID:
7581389
8.

Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree.

Omran H, Fernandez C, Jung M, Häffner K, Fargier B, Villaquiran A, Waldherr R, Gretz N, Brandis M, Rüschendorf F, Reis A, Hildebrandt F.

Am J Hum Genet. 2000 Jan;66(1):118-27.

9.

Retinitis pigmentosa and renal failure in a patient with mutations in INVS.

O'Toole JF, Otto EA, Frishberg Y, Hildebrandt F.

Nephrol Dial Transplant. 2006 Jul;21(7):1989-91. Epub 2006 Mar 7.

PMID:
16522655
10.

Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity.

Christodoulou K, Tsingis M, Deymeer F, Serdaroglu P, Ozdemir C, Al-Shehab A, Bairactaris C, Mavromatis I, Mylonas I, Evoli A, Kyriallis K, Middleton LT.

Hum Mol Genet. 1997 Apr;6(4):635-40.

PMID:
9097970
11.

Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3.

Finckh U, Xu S, Kumaramanickavel G, Schürmann M, Mukkadan JK, Fernandez ST, John S, Weber JL, Denton MJ, Gal A.

Genomics. 1998 Mar 15;48(3):341-5.

PMID:
9545639
12.

A new locus for inherited nuclear cataract mapped to the long arm of chromosome 1.

Wang L, Lin H, Shen Y, Huang S, Gu J, Su H, Qi Y.

Mol Vis. 2007 Aug 1;13:1357-62.

PMID:
17768382
13.

Evidence for a new locus for X-linked retinitis pigmentosa (RP23).

Hardcastle AJ, Thiselton DL, Zito I, Ebenezer N, Mah TS, Gorin MB, Bhattacharya SS.

Invest Ophthalmol Vis Sci. 2000 Jul;41(8):2080-6.

PMID:
10892847
14.

CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene.

Danciger M, Hendrickson J, Lyon J, Toomes C, McHale JC, Fishman GA, Inglehearn CF, Jacobson SG, Farber DB.

Invest Ophthalmol Vis Sci. 2001 Oct;42(11):2458-65.

PMID:
11581183
15.

Suggestive linkage of familial primary cutaneous amyloidosis to a locus on chromosome 1q23.

Lin MW, Lee DD, Lin CH, Huang CY, Wong CK, Chang YT, Liu HN, Hsiao KJ, Tsai SF.

Br J Dermatol. 2005 Jan;152(1):29-36.

PMID:
15656797
16.

A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1.

Xu SY, Schwartz M, Rosenberg T, Gal A.

Hum Mol Genet. 1996 Aug;5(8):1193-7.

PMID:
8842740
17.

Autosomal recessive retinitis pigmentosa locus maps on chromosome 1q in a large consanguineous family from Pakistan.

Leutelt J, Oehlmann R, Younus F, van den Born LI, Weber JL, Denton MJ, Mehdi SQ, Gal A.

Clin Genet. 1995 Mar;47(3):122-4.

PMID:
7634534
18.

Identification of candidate regions for a novel Usher syndrome type II locus.

Ben Rebeh I, Benzina Z, Dhouib H, Hadjamor I, Amyere M, Ayadi L, Turki K, Hammami B, Kmiha N, Kammoun H, Hakim B, Charfedine I, Vikkula M, Ghorbel A, Ayadi H, Masmoudi S.

Mol Vis. 2008 Sep 19;14:1719-26.

19.

Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.

Bruford EA, Riise R, Teague PW, Porter K, Thomson KL, Moore AT, Jay M, Warburg M, Schinzel A, Tommerup N, Tornqvist K, Rosenberg T, Patton M, Mansfield DC, Wright AF.

Genomics. 1997 Apr 1;41(1):93-9.

PMID:
9126487
20.

Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32.

Higgins JJ, Morton DH, Loveless JM.

Neurology. 1999 Jan 1;52(1):146-50.

PMID:
9921862

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