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Items: 1 to 20 of 128

1.

A gene for familial venous malformations maps to chromosome 9p in a second large kindred.

Gallione CJ, Pasyk KA, Boon LM, Lennon F, Johnson DW, Helmbold EA, Markel DS, Vikkula M, Mulliken JB, Warman ML, et al.

J Med Genet. 1995 Mar;32(3):197-9.

2.

Assignment of a locus for dominantly inherited venous malformations to chromosome 9p.

Boon LM, Mulliken JB, Vikkula M, Watkins H, Seidman J, Olsen BR, Warman ML.

Hum Mol Genet. 1994 Sep;3(9):1583-7.

PMID:
7833915
3.

Genetic heterogeneity in familial dilated cardiomyopathy.

Schultz KR, Gajarski RJ, Pignatelli R, Goytia V, Roberts R, Bachinski L, Towbin JA.

Biochem Mol Med. 1995 Dec;56(2):87-93.

PMID:
8825069
4.
5.

A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22.

Kramer P, Yount J, Mitchell T, LaMorticella D, Carrero-Valenzuela R, Lovrien E, Maumenee I, Litt M.

Genomics. 1996 Aug 1;35(3):539-42.

PMID:
8812489
6.

Genetics of seven Dutch familial atypical multiple mole-melanoma syndrome families: a review of linkage results including chromosomes 1 and 9.

Bergman W, Gruis NA, Sandkuijl LA, Frants RR.

J Invest Dermatol. 1994 Nov;103(5 Suppl):122S-125S.

PMID:
7963673
7.

A gene for familial juvenile polyposis maps to chromosome 18q21.1.

Howe JR, Ringold JC, Summers RW, Mitros FA, Nishimura DY, Stone EM.

Am J Hum Genet. 1998 May;62(5):1129-36.

8.

Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene.

Eyre S, Roby P, Wolstencroft K, Spreckley K, Aspinwall R, Bayoumi R, Al-Gazali L, Ramesar R, Beighton P, Wallis G.

J Med Genet. 2002 Sep;39(9):634-8. Erratum in: J Med Genet. 2005 Jun;42(6):e34.

9.

Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family.

Kremer H, Kuyt LP, van den Helm B, van Reen M, Leunissen JA, Hamel BC, Jansen C, Mariman EC, Frants RR, Padberg GW.

Hum Mol Genet. 1996 Sep;5(9):1367-71.

PMID:
8872479
10.

A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.

Auburger G, Ratzlaff T, Lunkes A, Nelles HW, Leube B, Binkofski F, Kugel H, Heindel W, Seitz R, Benecke R, Witte OW, Voit T.

Genomics. 1996 Jan 1;31(1):90-4.

PMID:
8808284
11.

A novel form of "central pouchlike" cataract, with sutural opacities, maps to chromosome 15q21-22.

Vanita, Singh JR, Sarhadi VK, Singh D, Reis A, Rueschendorf F, Becker-Follmann J, Jung M, Sperling K.

Am J Hum Genet. 2001 Feb;68(2):509-14. Epub 2000 Dec 21.

12.

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.

13.

Localisation of a gene for chondrocalcinosis to chromosome 5p.

Hughes AE, McGibbon D, Woodward E, Dixey J, Doherty M.

Hum Mol Genet. 1995 Jul;4(7):1225-8.

PMID:
8528213
14.

Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13.

Chen WM, Liu YF, Lin MW, Chen IC, Lin PY, Lin GL, Jou YS, Lin YT, Fann CS, Wu JY, Hsiao KJ, Tsai SF.

Am J Hum Genet. 2004 Aug;75(2):310-7. Epub 2004 Jun 3.

15.

A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2.

Hassan MJ, Chishti MS, Jamal SM, Tariq M, Ahmad W.

Hum Genet. 2008 Feb;123(1):77-82. Epub 2007 Dec 11.

PMID:
18071751
16.

A new locus for autosomal dominant congenital cataracts maps to chromosome 3.

Kramer PL, LaMorticella D, Schilling K, Billingslea AM, Weleber RG, Litt M.

Invest Ophthalmol Vis Sci. 2000 Jan;41(1):36-9.

PMID:
10634598
17.

Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22.

den Hollander AI, van der Velde-Visser SD, Pinckers AJ, Hoyng CB, Brunner HG, Cremers FP.

Hum Genet. 1999 Jan;104(1):73-6.

PMID:
10071195
18.

Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.

Stibůrková B, Majewski J, Hodanová K, Ondrová L, Jerábková M, Zikánová M, Vylet'al P, Sebesta I, Marinaki A, Simmonds A, Matthijs G, Fryns JP, Torres R, Puig JG, Ott J, Kmoch S.

Eur J Hum Genet. 2003 Feb;11(2):145-54.

19.

A gene responsible for cavernous malformations of the brain maps to chromosome 7q.

Dubovsky J, Zabramski JM, Kurth J, Spetzler RF, Rich SS, Orr HT, Weber JL.

Hum Mol Genet. 1995 Mar;4(3):453-8.

PMID:
7795602
20.

[A study on localization of an autosomal dominant retinitis pigmentosa gene].

Ma X, Wei R, Cai J, Zhu L.

Zhonghua Yan Ke Za Zhi. 2002 Nov;38(11):680-3. Chinese.

PMID:
12487900

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