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Items: 1 to 20 of 122

1.

Physical and transcript map of the autosomal dominant colobomatous microphthalmia locus on chromosome 15q12-q15 and refinement to a 4.4 Mb region.

Michon L, Morlé L, Bozon M, Duret L, Zech JC, Godet J, Plauchu H, Edery P.

Eur J Hum Genet. 2004 Jul;12(7):574-8.

2.

A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.

Morlé L, Bozon M, Zech JC, Alloisio N, Raas-Rothschild A, Philippe C, Lambert JC, Godet J, Plauchu H, Edery P.

Am J Hum Genet. 2000 Dec;67(6):1592-7. Epub 2000 Oct 13.

3.

A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium.

Machado RD, Pauciulo MW, Fretwell N, Veal C, Thomson JR, Vilariño Güell C, Aldred M, Brannon CA, Trembath RC, Nichols WC.

Genomics. 2000 Sep 1;68(2):220-8.

PMID:
10964520
4.

Linkage mapping of ovine microphthalmia to chromosome 23, the sheep orthologue of human chromosome 18.

Tetens J, Ganter M, Müller G, Drögemüller C.

Invest Ophthalmol Vis Sci. 2007 Aug;48(8):3506-15.

PMID:
17652717
5.

[Preliminary linkage analysis on autosomal dominant microphthalmia with 12 microsatellite markers].

Yu P, Zhou Q, Guo L, Zhou YM, Luo YY, Zhang RY, Yan XY, Ding KP, Hong ZF, Zhang YZ.

Shi Yan Sheng Wu Xue Bao. 2004 Apr;37(2):85-90. Chinese.

PMID:
15259979
6.

Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region.

Fuchshuber A, Kroiss S, Karle S, Berthold S, Huck K, Burton C, Rahman N, Koptides M, Deltas C, Otto E, Rüschendorf F, Feest T, Hildebrandt F.

Genomics. 2001 Mar 15;72(3):278-84.

PMID:
11401443
7.

Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26.

Mangino M, Flex E, Capon F, Sangiuolo F, Carraro E, Gualandi F, Mazzoli M, Martini A, Novelli G, Dallapiccola B.

Eur J Hum Genet. 2001 Sep;9(9):667-71.

8.

The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes.

McKay JD, Patterson B, Craig JE, Russell-Eggitt IM, Wirth MG, Burdon KP, Hewitt AW, Cohn AC, Kerdraon Y, Mackey DA.

Br J Ophthalmol. 2005 Jul;89(7):831-4.

9.

Genetic mapping of a novel X-linked recessive colobomatous microphthalmia.

Lehman DM, Sponsel WE, Stratton RF, Mensah J, Macdonald JC, Johnson-Pais TL, Coon H, Reveles XT, Cody JD, Leach RJ.

Am J Med Genet. 2001 Jun 15;101(2):114-9.

PMID:
11391653
10.

Physical mapping of the rippling muscle disease locus.

Stephan DA, Hoffman EP.

Genomics. 1999 Feb 1;55(3):268-74.

PMID:
10049580
12.

Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping.

Nürnberg G, Jacobi FK, Broghammer M, Becker C, Blin N, Nürnberg P, Stephani U, Pusch CM.

Int J Mol Med. 2008 Apr;21(4):429-38.

PMID:
18360688
13.

Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3.

Lichter-Konecki U, Broman KW, Blau EB, Konecki DS.

Am J Hum Genet. 2001 Jan;68(1):264-8. Epub 2000 Nov 22.

14.

Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY.

Votruba M, Payne A, Moore AT, Bhattacharya SS.

Mamm Genome. 1998 Oct;9(10):784-7.

PMID:
9745030
15.

Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.

Bolino A, Levy ER, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou RK, Hausmanowa-Petrusewicz I, Mandich P, Gambardella A, Quattrone A, Devoto M, Monaco AP.

Genomics. 2000 Jan 15;63(2):271-8.

PMID:
10673338
16.

Fine mapping of the autosomal dominant juvenile open angle glaucoma (GLC1A) region and evaluation of candidate genes.

Sunden SL, Alward WL, Nichols BE, Rokhlina TR, Nystuen A, Stone EM, Sheffield VC.

Genome Res. 1996 Sep;6(9):862-9.

17.

Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1.

Guilbot A, Ravisé N, Bouhouche A, Coullin P, Birouk N, Maisonobe T, Kuntzer T, Vial C, Grid D, Brice A, LeGuern E.

Eur J Hum Genet. 1999 Dec;7(8):849-59.

18.

A novel locus for ectodermal dysplasia of hairs, nails and teeth type maps to chromosome 18q22.1-22.3.

Tariq M, Chishti MS, Ali G, Ahmad W.

Ann Hum Genet. 2008 Jan;72(Pt 1):19-25. doi: 10.1111/j.1469-1809.2007.00391.x.

19.

Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family.

Bürger J, Metzke H, Paternotte C, Schilling F, Hazan J, Reis A.

Hum Genet. 1996 Sep;98(3):371-5.

PMID:
8707310
20.

Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?

Ng D, Hadley DW, Tifft CJ, Biesecker LG.

Am J Med Genet. 2002 Jul 15;110(4):308-14.

PMID:
12116202

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