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Items: 1 to 20 of 90

1.

HPPD: A newly recognized autosomal dominant disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31.

Sampath S, Keats BJ, Lacassie Y.

Am J Med Genet A. 2011 May;155A(5):976-85. doi: 10.1002/ajmg.a.33971. Epub 2011 Apr 7.

PMID:
21480481
2.

A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21.

Boyadjiev SA, Justice CM, Eyaid W, McKusick VA, Lachman RS, Chowdry AB, Jabak M, Zwaan J, Wilson AF, Jabs EW.

Hum Genet. 2003 Jul;113(1):1-9. Epub 2003 Apr 3.

PMID:
12677423
5.

Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

Gijselinck I, Engelborghs S, Maes G, Cuijt I, Peeters K, Mattheijssens M, Joris G, Cras P, Martin JJ, De Deyn PP, Kumar-Singh S, Van Broeckhoven C, Cruts M.

Arch Neurol. 2010 May;67(5):606-16. doi: 10.1001/archneurol.2010.82.

PMID:
20457961
6.

Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci.

Burdon KP, Coster DJ, Charlesworth JC, Mills RA, Laurie KJ, Giunta C, Hewitt AW, Latimer P, Craig JE.

Hum Genet. 2008 Nov;124(4):379-86. doi: 10.1007/s00439-008-0555-z. Epub 2008 Sep 5.

PMID:
18795334
7.

Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family.

Kumar S, Kimberling WJ, Kenyon JB, Smith RJ, Marres HA, Cremers CW.

Hum Mol Genet. 1992 Oct;1(7):491-5.

PMID:
1307249
8.

A novel locus for congenital simple microphthalmia family mapping to 17p12-q12.

Hu Z, Yu C, Li J, Wang Y, Liu D, Xiang X, Su W, Pan Q, Xie L, Xia K.

Invest Ophthalmol Vis Sci. 2011 May 18;52(6):3425-9. doi: 10.1167/iovs.10-6747.

PMID:
21345985
9.

Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genes.

Chu K, Koller DL, Snyder R, Fishburn T, Lai D, Waguespack SG, Foroud T, Econs MJ.

Bone. 2005 Nov;37(5):655-61. Epub 2005 Aug 24.

PMID:
16120485
10.

Autosomal dominant progressive nephropathy with deafness: linkage to a new locus on chromosome 11q24.

Prakash S, Chung KW, Sinha S, Barmada M, Ellis D, Ferrell RE, Finegold DN, Randhawa PS, Dinda A, Vats A.

J Am Soc Nephrol. 2003 Jul;14(7):1794-803.

11.

Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8.

Blanton SH, Heckenlively JR, Cottingham AW, Friedman J, Sadler LA, Wagner M, Friedman LH, Daiger SP.

Genomics. 1991 Dec;11(4):857-69.

PMID:
1783394
12.

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
13.

Mapping a novel locus for familial atrial fibrillation on chromosome 10p11-q21.

Volders PG, Zhu Q, Timmermans C, Eurlings PM, Su X, Arens YH, Li L, Jongbloed RJ, Xia M, Rodriguez LM, Chen YH.

Heart Rhythm. 2007 Apr;4(4):469-75. Epub 2006 Dec 15.

PMID:
17399636
14.

A new locus for autosomal dominant cataract on chromosome 19: linkage analyses and screening of candidate genes.

Bateman JB, Richter L, Flodman P, Burch D, Brown S, Penrose P, Paul O, Geyer DD, Brooks DG, Spence MA.

Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3441-9. Erratum in: Invest Ophthalmol Vis Sci. 2006 Sep;47(9):4179-80.

PMID:
16877414
15.

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
16.

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
17.

Localization of the gene for branchiootorenal syndrome to chromosome 8q.

Smith RJ, Coppage KB, Ankerstjerne JK, Capper DT, Kumar S, Kenyon J, Tinley S, Comeau K, Kimberling WJ.

Genomics. 1992 Dec;14(4):841-4.

PMID:
1478663
18.

A locus for autosomal dominant anterior polar cataract on chromosome 17p.

Berry V, Ionides AC, Moore AT, Plant C, Bhattacharya SS, Shiels A.

Hum Mol Genet. 1996 Mar;5(3):415-9.

19.

A genome-wide scan maps a novel high myopia locus to 5p15.

Lam CY, Tam PO, Fan DS, Fan BJ, Wang DY, Lee CW, Pang CP, Lam DS.

Invest Ophthalmol Vis Sci. 2008 Sep;49(9):3768-78. doi: 10.1167/iovs.07-1126. Epub 2008 Apr 17.

PMID:
18421076
20.

Refinement of genetic localization of the Alström syndrome on chromosome 2p12-13 by linkage analysis in a North African family.

Macari F, Lautier C, Girardet A, Dadoun F, Darmon P, Dutour A, Renard E, Bouvagnet P, Claustres M, Oliver C, Grigorescu F.

Hum Genet. 1998 Dec;103(6):658-61.

PMID:
9921899
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