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Items: 1 to 20 of 97

1.

Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type?

Jain M, Wallis D, Robin NH, De Vrieze FW, Hardy JA, Ghadami M, Bosse K, Betz RC, Nöthen MM, Arcos-Burgos M, Muenke M.

Am J Med Genet A. 2008 Sep 1;146A(17):2308-11. doi: 10.1002/ajmg.a.32445. No abstract available.

2.

Localization of a gene for syndactyly type 1 to chromosome 2q34-q36.

Bosse K, Betz RC, Lee YA, Wienker TF, Reis A, Kleen H, Propping P, Cichon S, Nöthen MM.

Am J Hum Genet. 2000 Aug;67(2):492-7. Epub 2000 Jun 30.

3.

Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family.

Ghadami M, Majidzadeh-A K, Haerian BS, Damavandi E, Yamada K, Pasallar P, Najafi MT, Nishimura G, Tomita HA, Yoshiura KI, Niikawa N.

Am J Med Genet. 2001 Nov 22;104(2):147-51.

PMID:
11746046
4.

[Genetic analysis of a Chinese pedigree with congenital synpolydactyly].

Qin W, Shu AL, Xing QH, Yang MS, Feng GY, He L.

Yi Chuan Xue Bao. 2003 Oct;30(10):973-7. Chinese.

PMID:
14669516
5.
6.

Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.

Klopocki E, Lohan S, Brancati F, Koll R, Brehm A, Seemann P, Dathe K, Stricker S, Hecht J, Bosse K, Betz RC, Garaci FG, Dallapiccola B, Jain M, Muenke M, Ng VC, Chan W, Chan D, Mundlos S.

Am J Hum Genet. 2011 Jan 7;88(1):70-5. doi: 10.1016/j.ajhg.2010.11.006. Epub 2010 Dec 17.

7.

A syndactyly type IV locus maps to 7q36.

Sato D, Liang D, Wu L, Pan Q, Xia K, Dai H, Wang H, Nishimura G, Yoshiura K, Xia J, Niikawa N.

J Hum Genet. 2007;52(6):561-4. Epub 2007 May 3.

PMID:
17476456
8.

A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin.

Malik S, Arshad M, Amin-Ud-Din M, Oeffner F, Dempfle A, Haque S, Koch MC, Ahmad W, Grzeschik KH.

Am J Med Genet A. 2004 Apr 1;126A(1):61-7.

PMID:
15039974
9.

Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome.

Kurczynski TW, Casperson SM.

J Med Genet. 1988 Jul;25(7):491-3.

10.
11.

Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36.

Al-Qattan MM, Shamseldin HE, Al Mazyad M, Al Deghaither S, Alkuraya FS.

Am J Med Genet A. 2013 Jul;161A(7):1579-84. doi: 10.1002/ajmg.a.35956. Epub 2013 May 17.

PMID:
23686920
12.

Mapping of a further locus for X-linked craniofrontonasal syndrome.

Wieland I, Jakubiczka S, Muschke P, Wolf A, Gerlach L, Krawczak M, Wieacker P.

Cytogenet Genome Res. 2002;99(1-4):285-8.

PMID:
12900576
13.

Craniosynostosis and syndactyly: expanding the 11q-- chromosomal deletion phenotype.

Lippe BM, Sparkes RS, Fass B, Neidengard L.

J Med Genet. 1980 Dec;17(6):480-3.

14.

Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus.

Engle EC, Andrews C, Law K, Demer JL.

Invest Ophthalmol Vis Sci. 2007 Jan;48(1):189-93.

15.

Newly recognised craniosynostosis syndrome that does not map to known disease loci.

Blair EM, Walsh S, Oldridge M, Wall SA, Wilkie AO.

Am J Med Genet. 2000 Nov 6;95(1):4-9.

PMID:
11074486
16.

Six cases of 7p deletion: clinical, cytogenetic, and molecular studies.

Chotai KA, Brueton LA, van Herwerden L, Garrett C, Hinkel GK, Schinzel A, Mueller RF, Speleman F, Winter RM.

Am J Med Genet. 1994 Jul 1;51(3):270-6. Review.

PMID:
7521123
17.

Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31.

Malik S, Schott J, Ali SW, Oeffner F, Amin-ud-Din M, Ahmad W, Grzeschik KH, Koch MC.

Eur J Hum Genet. 2005 Dec;13(12):1268-74.

18.

Carpenter syndrome (ACPS-II).

Patel ZM, Ambani LM.

J Assoc Physicians India. 1980 May-Jun;28(5-6):149-51. No abstract available.

PMID:
6260733
19.

Jackson-Weiss syndrome: clinical and radiological findings in a large kindred and exclusion of the gene from 7p21 and 5qter.

Adès LC, Mulley JC, Senga IP, Morris LL, David DJ, Haan EA.

Am J Med Genet. 1994 Jun 1;51(2):121-30.

PMID:
8092187
20.

Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p.

Lewanda AF, Cohen MM Jr, Jackson CE, Taylor EW, Li X, Beloff M, Day D, Clarren SK, Ortiz R, Garcia C, et al.

Genomics. 1994 Jan 1;19(1):115-9.

PMID:
8188211
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