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Items: 1 to 20 of 96

1.

A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia.

Raza SI, Muhammad N, Khan S, Ahmad W.

Br J Dermatol. 2013 Feb;168(2):422-5. doi: 10.1111/j.1365-2133.2012.11203.x.

PMID:
22861124
2.

FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia.

Naz G, Pasternack SM, Perrin C, Mattheisen M, Refke M, Khan S, Gul A, Simons M, Ahmad W, Betz RC.

Br J Dermatol. 2012 May;166(5):1088-94. doi: 10.1111/j.1365-2133.2011.10800.x.

PMID:
22211385
3.

Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.

Fröjmark AS, Schuster J, Sobol M, Entesarian M, Kilander MB, Gabrikova D, Nawaz S, Baig SM, Schulte G, Klar J, Dahl N.

Am J Hum Genet. 2011 Jun 10;88(6):852-60. doi: 10.1016/j.ajhg.2011.05.013.

4.

Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia.

Naqvi SK, Wasif N, Javaid H, Ahmad W.

Orthod Craniofac Res. 2011 Aug;14(3):156-9. doi: 10.1111/j.1601-6343.2011.01521.x.

PMID:
21771270
5.

A novel missense mutation in cathepsin K (CTSK) gene in a consanguineous Pakistani family with pycnodysostosis.

Khan B, Ahmed Z, Ahmad W.

J Investig Med. 2010 Jun;58(5):720-4. doi: 10.231/JIM.0b013e3181da50bd.

PMID:
20305575
6.

A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani family.

Chishti MS, Kausar N, Rafiq MA, Amin M, Ahmad W.

Br J Dermatol. 2008 Mar;158(3):621-3. No abstract available.

PMID:
18070203
7.

Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC).

Tariq M, Azeem Z, Ali G, Chishti MS, Ahmad W.

J Med Genet. 2009 Jan;46(1):14-20. doi: 10.1136/jmg.2008.061234.

PMID:
18805827
8.

A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin.

Naeem M, Sheikh S, Ahmad W.

BMC Med Genet. 2009 Aug 12;10:76. doi: 10.1186/1471-2350-10-76.

9.

Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux.

Khan S, Ali RH, Abbasi S, Nawaz M, Muhammad N, Ahmad W.

BMC Med Genet. 2012 Jun 12;13:44.

10.

A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity.

Mir H, Raza SI, Touseef M, Memon MM, Khan MN, Jaffar S, Ahmad W.

BMC Med Genet. 2014 Feb 26;15:25. doi: 10.1186/1471-2350-15-25.

11.

Frizzled6 deficiency disrupts the differentiation process of nail development.

Cui CY, Klar J, Georgii-Heming P, Fröjmark AS, Baig SM, Schlessinger D, Dahl N.

J Invest Dermatol. 2013 Aug;133(8):1990-7. doi: 10.1038/jid.2013.84.

12.

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).

Khan TN, Klar J, Nawaz S, Jameel M, Tariq M, Malik NA, Baig SM, Dahl N.

BMC Med Genet. 2012 Dec 13;13:120. doi: 10.1186/1471-2350-13-120.

13.

Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2.

Naeem M, Jelani M, Lee K, Ali G, Chishti MS, Wali A, Gul A, John P, Hassan MJ, Leal SM, Ahmad W.

Br J Dermatol. 2006 Dec;155(6):1184-90.

PMID:
17107387
14.
15.

Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2).

Naz G, Khan B, Ali G, Azeem Z, Wali A, Ansar M, Ahmad W.

J Dermatol Sci. 2009 Apr;54(1):12-6. doi: 10.1016/j.jdermsci.2008.12.001.

PMID:
19167195
16.

Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia.

Bibi N, Ahmad S, Ahmad W, Naeem M.

Australas J Dermatol. 2011 Feb;52(1):37-42. doi: 10.1111/j.1440-0960.2010.00685.x.

PMID:
21332691
17.

Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families.

Aziz A, Irfanullah, Khan S, Zimri FK, Muhammad N, Rashid S, Ahmad W.

Gene. 2014 Jan 25;534(2):265-71. doi: 10.1016/j.gene.2013.10.047.

PMID:
24211389
18.

Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family.

Naeem M, John P, Ali G, Ahmad W.

Clin Exp Dermatol. 2007 Sep;32(5):502-5.

PMID:
17489990
19.

A novel locus for ectodermal dysplasia of hairs, nails and teeth type maps to chromosome 18q22.1-22.3.

Tariq M, Chishti MS, Ali G, Ahmad W.

Ann Hum Genet. 2008 Jan;72(Pt 1):19-25. doi: 10.1111/j.1469-1809.2007.00391.x.

20.

A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair.

Alcalai R, Metzger S, Rosenheck S, Meiner V, Chajek-Shaul T.

J Am Coll Cardiol. 2003 Jul 16;42(2):319-27.

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