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Items: 1 to 20 of 185

1.

Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14.

Brancati F, Valente EM, Tadini G, Caputo V, Di Benedetto A, Gelmetti C, Dallapiccola B.

J Med Genet. 2003 Nov;40(11):849-53. No abstract available.

2.

Evidence for clinical and genetic heterogeneity in hereditary benign telangiectasia.

Molho-Pessach V, Agha Z, Libster D, Lerer I, Burger A, Jaber S, Abeliovich D, Zlotogorski A.

J Am Acad Dermatol. 2007 Nov;57(5):814-8.

PMID:
17658662
3.

Locus for susceptibility for familial capillary malformation ('port-wine stain') maps to 5q.

Eerola I, Boon LM, Watanabe S, Grynberg H, Mulliken JB, Vikkula M.

Eur J Hum Genet. 2002 Jun;10(6):375-80.

4.

A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci.

Modamio-Høybjør S, Moreno-Pelayo MA, Mencía A, del Castillo I, Chardenoux S, Morais D, Lathrop M, Petit C, Moreno F.

J Med Genet. 2004 Feb;41(2):e14. No abstract available.

5.

A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter.

Blanton SH, Liang CY, Cai MW, Pandya A, Du LL, Landa B, Mummalanni S, Li KS, Chen ZY, Qin XN, Liu YF, Balkany T, Nance WE, Liu XZ.

J Med Genet. 2002 Aug;39(8):567-70.

6.

A locus for hereditary capillary malformations mapped on chromosome 5q.

Breugem CC, Alders M, Salieb-Beugelaar GB, Mannens MM, Van der Horst CM, Hennekam RC.

Hum Genet. 2002 Apr;110(4):343-7.

PMID:
11941483
7.

Piebaldism: an autonomous autosomal dominant entity.

Winship I, Young K, Martell R, Ramesar R, Curtis D, Beighton P.

Clin Genet. 1991 May;39(5):330-7.

PMID:
1860249
8.

Linkage of autosomal dominant common variable immunodeficiency to chromosome 5p and evidence for locus heterogeneity.

Braig DU, Schäffer AA, Glocker E, Salzer U, Warnatz K, Peter HH, Grimbacher B.

Hum Genet. 2003 Apr;112(4):369-78.

PMID:
12574940
9.

An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5.

Michaelides M, Johnson S, Tekriwal AK, Holder GE, Bellmann C, Kinning E, Woodruff G, Trembath RC, Hunt DM, Moore AT.

Invest Ophthalmol Vis Sci. 2003 May;44(5):2178-83.

PMID:
12714659
10.

Refinement of the chromosome 5p locus for craniometaphyseal dysplasia.

Chandler D, Tinschert S, Lohan K, Harrop K, Goldblatt J, Nagy M, Hummel S, Braun HS, Laing N, Nürnberg P.

Hum Genet. 2001 May;108(5):394-7.

PMID:
11409866
11.

A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3.

Snoeckx RL, Kremer H, Ensink RJ, Flothmann K, de Brouwer A, Smith RJ, Cremers CW, Van Camp G.

J Med Genet. 2004 Jan;41(1):11-3.

12.

DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23.

Moreno-Pelayo MA, Modamio-Høybjør S, Mencía A, del Castillo I, Chardenoux S, Fernández-Burriel M, Lathrop M, Petit C, Moreno F.

J Med Genet. 2003 Nov;40(11):832-6. No abstract available. Erratum in: J Med Genet. 2004 Feb;41(2):98.

13.

[Clinical study and genetic 3q28 locus linkage in 2 Swiss families with Kjer dominant optic atrophy (OPA1)].

Lefèvre A, Hiroz C, Zografos L, Schorderet DF, Munier FL.

Klin Monbl Augenheilkd. 1998 May;212(5):301-4. French.

PMID:
9677562
14.

Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2.

den Hollander AI, van Lith-Verhoeven JJ, Kersten FF, Heister JG, de Kovel CG, Deutman AF, Hoyng CB, Cremers FP.

J Med Genet. 2004 Sep;41(9):699-702. No abstract available.

15.

A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14.

Black GC, Perveen R, Wiszniewski W, Dodd CL, Donnai D, McLeod D.

Ophthalmology. 1999 Nov;106(11):2074-81.

PMID:
10571340
16.

Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.

Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M.

Am J Hum Genet. 2003 Dec;73(6):1240-9.

17.

Further evidence of genetic heterogeneity segregating with hereditary gingival fibromatosis.

Ye X, Shi L, Yin W, Meng L, Wang QK, Bian Z.

J Clin Periodontol. 2009 Aug;36(8):627-33. doi: 10.1111/j.1600-051X.2009.01438.x.

PMID:
19552635
18.

Linkage analysis between familial myoclonus epilepsy and short arm of chromosome 6 using HLA phenotype as genetic marker.

Hashimoto O, Honda M, Niwa S, Kameyama T, Kumagai N, Nagakubo S, Shirayama Y, Hata A, Fukuda M, Anzai N.

Jpn J Psychiatry Neurol. 1993 Jun;47(2):275-7. No abstract available.

PMID:
8271562
19.

The potential of capillary birthmarks as a significant marker for capillary malformation-arteriovenous malformation syndrome in children who had nontraumatic cerebral hemorrhage.

Chee D, Phillips R, Maixner W, Southwell BR, Hutson JM.

J Pediatr Surg. 2010 Dec;45(12):2419-22. doi: 10.1016/j.jpedsurg.2010.08.043.

PMID:
21129558
20.

An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?

Waters MF, Fee D, Figueroa KP, Nolte D, Müller U, Advincula J, Coon H, Evidente VG, Pulst SM.

Neurology. 2005 Oct 11;65(7):1111-3.

PMID:
16135769
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