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Items: 1 to 20 of 792

1.

Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41.

Watanabe Y, Murray JC, Bjork BC, Bird CP, Chiang PW, Gregory SG, Kurnit DM, Schutte BC.

Hum Mutat. 2001 Nov;18(5):422-34.

PMID:
11668635
2.

Confirmation of linkage of Van der Woude syndrome to chromosome 1q32: evidence of association with STR alleles suggests possible unique origin of the disease mutation.

Beiraghi S, Miller-Chisholm A, Kimberling WJ, Sun CE, Wang YF, Russell LJ, Khoshnevisan M, Storm AL, Long RE Jr, Witt PD, Mazaheri M, Diehl SR.

J Craniofac Genet Dev Biol. 1999 Jul-Sep;19(3):128-34.

PMID:
10589394
3.

Evidence for a microdeletion in 1q32-41 involving the gene responsible for Van der Woude syndrome.

Sander A, Schmelzle R, Murray J.

Hum Mol Genet. 1994 Apr;3(4):575-8.

PMID:
8069301
4.

Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34.

Koillinen H, Wong FK, Rautio J, Ollikainen V, Karsten A, Larson O, Teh BT, Huggare J, Lahermo P, Larsson C, Kere J.

Eur J Hum Genet. 2001 Oct;9(10):747-52.

5.

Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome.

Schutte BC, Basart AM, Watanabe Y, Laffin JJ, Coppage K, Bjork BC, Daack-Hirsch S, Patil S, Dixon MJ, Murray JC.

Am J Med Genet. 1999 May 21;84(2):145-50.

PMID:
10323740
6.

Identification of IRF6 gene variants in three families with Van der Woude syndrome.

Tan EC, Lim EC, Yap SH, Lee ST, Cheng J, Por YC, Yeow V.

Int J Mol Med. 2008 Jun;21(6):747-51.

PMID:
18506368
7.

Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait.

Houdayer C, Soupre V, Rosenberg-Bourgin M, Martinez H, Tredano M, Feldmann D, Feingold J, Aymard P, Munnich A, Le Bouc Y, Vazquez MP, Bahuau M.

Ann Genet. 1999;42(2):69-74.

PMID:
10434119
8.

A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41.

Schutte BC, Bjork BC, Coppage KB, Malik MI, Gregory SG, Scott DJ, Brentzell LM, Watanabe Y, Dixon MJ, Murray JC.

Genome Res. 2000 Jan;10(1):81-94.

9.

Clinical and genetic studies of Van der Woude syndrome in Sweden.

Wong FK, Karsten A, Larson O, Huggare J, Hagberg C, Larsson C, Teh BT, Linder-Aronson S.

Acta Odontol Scand. 1999 Apr;57(2):72-6.

PMID:
10445358
10.

Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41.

Makita Y, Yamada K, Miyamoto A, Okuno A, Niikawa N.

Am J Med Genet. 1999 Sep 17;86(3):285-8.

PMID:
10482882
11.

Family-based analysis using a dense single-nucleotide polymorphism-based map defines genetic variation at PSORS1, the major psoriasis-susceptibility locus.

Veal CD, Capon F, Allen MH, Heath EK, Evans JC, Jones A, Patel S, Burden D, Tillman D, Barker JN, Trembath RC.

Am J Hum Genet. 2002 Sep;71(3):554-64. Epub 2002 Jul 29.

13.

NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.

Bauer P, Knoblich R, Bauer C, Finckh U, Hufen A, Kropp J, Braun S, Kustermann-Kuhn B, Schmidt D, Harzer K, Rolfs A.

Hum Mutat. 2002 Jan;19(1):30-8.

PMID:
11754101
14.

The causal element for the lactase persistence/non-persistence polymorphism is located in a 1 Mb region of linkage disequilibrium in Europeans.

Poulter M, Hollox E, Harvey CB, Mulcare C, Peuhkuri K, Kajander K, Sarner M, Korpela R, Swallow DM.

Ann Hum Genet. 2003 Jul;67(Pt 4):298-311. Erratum in: Ann Hum Genet. 2005 Jul;69(Pt 4):499.

PMID:
12914565
15.

Germ line insertion of mtDNA at the breakpoint junction of a reciprocal constitutional translocation.

Willett-Brozick JE, Savul SA, Richey LE, Baysal BE.

Hum Genet. 2001 Aug;109(2):216-23.

PMID:
11511928
16.

Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome.

Hadj-Rabia S, Salomon R, Pelet A, Penet C, Rotschild A, de Laƫt MH, Chaouachi B, Hannachi R, Bakiri F, Brauner R, Chaussain JL, Munnich A, Lyonnet S.

Eur J Hum Genet. 2000 Aug;8(8):613-20.

17.
18.

The EPHA2 gene is associated with cataracts linked to chromosome 1p.

Shiels A, Bennett TM, Knopf HL, Maraini G, Li A, Jiao X, Hejtmancik JF.

Mol Vis. 2008;14:2042-55. Epub 2008 Nov 12.

19.

Polymorphisms in the leptin receptor (LEPR)--putative association with obesity and T2DM.

Park KS, Shin HD, Park BL, Cheong HS, Cho YM, Lee HK, Lee JY, Lee JK, Oh B, Kimm K.

J Hum Genet. 2006;51(2):85-91. Epub 2005 Dec 7.

PMID:
16333525
20.

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