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Items: 1 to 20 of 141

1.

A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36.

Heus HC, Hing A, van Baren MJ, Joosse M, Breedveld GJ, Wang JC, Burgess A, Donnis-Keller H, Berglund C, Zguricas J, Scherer SW, Rommens JM, Oostra BA, Heutink P.

Genomics. 1999 May 1;57(3):342-51.

PMID:
10329000
2.

Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36.

Zguricas J, Heus H, Morales-Peralta E, Breedveld G, Kuyt B, Mumcu EF, Bakker W, Akarsu N, Kay SP, Hovius SE, Heredero-Baute L, Oostra BA, Heutink P.

J Med Genet. 1999 Jan;36(1):32-40.

3.

Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes.

Semerci CN, Demirkan F, Ozdemir M, Biskin E, Akin B, Bagci H, Akarsu NA.

Clin Genet. 2009 Jul;76(1):85-90. doi: 10.1111/j.1399-0004.2009.01192.x. Epub 2009 Jun 9.

PMID:
19519794
4.
5.

An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36.

Radhakrishna U, Blouin JL, Solanki JV, Dhoriani GM, Antonarakis SE.

Am J Med Genet. 1996 Dec 11;66(2):209-15.

PMID:
8958333
6.

Localization of dominantly inherited isolated triphalangeal thumb to chromosomal region 7q36.

Dobbs MB, Dietz FR, Gurnett CA, Morcuende JA, Steyers CM, Murray JC.

J Orthop Res. 2000 May;18(3):340-4.

PMID:
10937618
7.

A novel acropectoral syndrome maps to chromosome 7q36.

Dundar M, Gordon TM, Ozyazgan I, Oguzkaya F, Ozkul Y, Cooke A, Wilkinson AG, Holloway S, Goodman FR, Tolmie JL.

J Med Genet. 2001 May;38(5):304-9.

8.

Linkage of preaxial polydactyly type 2 to 7q36.

Hing AV, Helms C, Slaugh R, Burgess A, Wang JC, Herman T, Dowton SB, Donis-Keller H.

Am J Med Genet. 1995 Aug 28;58(2):128-35.

PMID:
8533803
9.

A complex bilateral polysyndactyly disease locus maps to chromosome 7q36.

Tsukurov O, Boehmer A, Flynn J, Nicolai JP, Hamel BC, Traill S, Zaleske D, Mankin HJ, Yeon H, Ho C, et al.

Nat Genet. 1994 Mar;6(3):282-6.

PMID:
8012391
10.

Single nucleotide polymorphisms in the chicken Lmbr1 gene are associated with chicken polydactyly.

Huang YQ, Deng XM, Du ZQ, Qiu X, Du X, Chen W, Morisson M, Leroux S, Ponce de Léon FA, Da Y, Li N.

Gene. 2006 Jun 7;374:10-8. Epub 2006 May 2.

PMID:
16650944
11.

Crossed polydactyly type I caused by a point mutation in the GLI3 gene in a large Chinese pedigree.

Cheng B, Dong Y, He L, Tang W, Yu H, Lu J, Xu L, Zheng B, Li K, Xiao C.

J Clin Lab Anal. 2006;20(4):133-8.

PMID:
16874813
12.

Phenotypic variability of triphalangeal thumb-polysyndactyly syndrome linked to chromosome 7q36.

Balci S, Demirtas M, Civelek B, Piskin M, Sensoz O, Akarsu AN.

Am J Med Genet. 1999 Dec 22;87(5):399-406.

PMID:
10594878
13.

Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly.

Gurnett CA, Bowcock AM, Dietz FR, Morcuende JA, Murray JC, Dobbs MB.

Am J Med Genet A. 2007 Jan 1;143A(1):27-32.

PMID:
17152067
14.

Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly.

Vargas FR, Roessler E, Gaudenz K, Belloni E, Whitehead AS, Kirke PN, Mills JL, Hooper G, Stevenson RE, Cordeiro I, Correia P, Felix T, Gereige R, Cunningham ML, Canún S, Antonarakis SE, Strachan T, Tsui LC, Scherer SW, Muenke M.

Hum Genet. 1998 Apr;102(4):387-92. Review.

PMID:
9600232
15.

A 1.2-megabase BAC/PAC contig spanning the 14q13 breakpoint of t(2; 14) in a mirror-image polydactyly patient.

Matsumoto N, Soeda E, Ohashi H, Fujimoto M, Kato R, Tsujita T, Tomita H, Kondo S, Fukushima Y, Niikawa N.

Genomics. 1997 Oct 1;45(1):11-6.

PMID:
9339355
16.

Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly.

Li H, Wang CY, Wang JX, Wu GS, Yu P, Yan XY, Chen YG, Zhao LH, Zhang YP.

Eur J Hum Genet. 2009 May;17(5):604-10. doi: 10.1038/ejhg.2008.240. Epub 2008 Dec 10.

17.

Genetic and physical delineation of the region overlapping the progressive motor neuropathy (pmn) locus on mouse chromosome 13.

Martin N, Jaubert J, Glaser P, Szatanik M, Guénet JL.

Genomics. 2001 Jul;75(1-3):9-16.

PMID:
11472062
18.

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.

Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H, Bottani A, Chandal D, Blouin JL, Solanki JV, Grzeschik KH, Antonarakis SE.

Am J Hum Genet. 1999 Sep;65(3):645-55.

19.

Fusion of the homeobox gene HLXB9 and the ETV6 gene in infant acute myeloid leukemias with the t(7;12)(q36;p13).

Beverloo HB, Panagopoulos I, Isaksson M, van Wering E, van Drunen E, de Klein A, Johansson B, Slater R.

Cancer Res. 2001 Jul 15;61(14):5374-7.

20.

Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene.

Ianakiev P, van Baren MJ, Daly MJ, Toledo SP, Cavalcanti MG, Neto JC, Silveira EL, Freire-Maia A, Heutink P, Kilpatrick MW, Tsipouras P.

Am J Hum Genet. 2001 Jan;68(1):38-45. Epub 2000 Nov 22.

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