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Journal Abstract Search
555 related items for PubMed ID: 17489990
1. 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. PubMed ID: 17489990 [Abstract] [Full Text] [Related]
3. 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. PubMed ID: 17107387 [Abstract] [Full Text] [Related]
5. A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. Naeem M, Wajid M, Lee K, Leal SM, Ahmad W. J Med Genet; 2006 Mar; 43(3):274-9. PubMed ID: 16525032 [Abstract] [Full Text] [Related]
6. Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia. Naeem M, Muhammad D, Ahmad W. Br J Dermatol; 2005 Jul; 153(1):46-50. PubMed ID: 16029325 [Abstract] [Full Text] [Related]
7. A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31. Habib R, Ansar M, Mattheisen M, Shahid M, Ali G, Ahmad W, Betz RC. PLoS One; 2015 Jul; 10(6):e0129811. PubMed ID: 26115030 [Abstract] [Full Text] [Related]
8. 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. PubMed ID: 21332691 [Abstract] [Full Text] [Related]
9. 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. PubMed ID: 18805827 [Abstract] [Full Text] [Related]
10. Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity. Birch-Machin MA, Healy E, Turner R, Haldane F, Belgaid CE, Darlington S, Stephenson AM, Munro C, Messenger AG, Rees JL. Br J Dermatol; 1997 Sep; 137(3):339-43. PubMed ID: 9349326 [Abstract] [Full Text] [Related]
11. 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. PubMed ID: 21771270 [Abstract] [Full Text] [Related]
12. Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees. Basit S, Wali A, Aziz A, Muhammad N, Jelani M, Ahmad W. Clin Genet; 2011 Mar; 79(3):273-81. PubMed ID: 20528890 [Abstract] [Full Text] [Related]
13. Hereditary 'white nails': a genetic and structural study. Norgett EE, Wolf F, Balme B, Leigh IM, Perrot H, Kelsell DP, Haftek M. Br J Dermatol; 2004 Jul; 151(1):65-72. PubMed ID: 15270873 [Abstract] [Full Text] [Related]
14. Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. Khan S, Habib R, Mir H, Umm-e-Kalsoom, Naz G, Ayub M, Shafique S, Yamin T, Ali N, Basit S, Wasif N, Kamran-Ul-Hassan Naqvi S, Ali G, Wali A, Ansar M, Ahmad W. Clin Exp Dermatol; 2011 Aug; 36(6):652-4. PubMed ID: 21426374 [Abstract] [Full Text] [Related]
15. A novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1. Rafiq MA, Faiyaz-Ul-Haque M, Ud Din MA, Malik S, Sohail M, Anwar M, Haque S, Paterson AD, Tsui LC, Ahmad W. J Invest Dermatol; 2005 Feb; 124(2):338-42. PubMed ID: 15675952 [Abstract] [Full Text] [Related]
16. A novel splice site mutation in the EDAR gene underlies autosomal recessive hypohidrotic ectodermal dysplasia in a Pakistani family. Wasif N, Tariq M, Ali G, Hassan MJ, Ahmad W. Pediatr Dermatol; 2010 Feb; 27(1):106-8. PubMed ID: 20199431 [Abstract] [Full Text] [Related]
17. A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family. Farooq M, Kurban M, Fujimoto A, Fujikawa H, Abbas O, Nemer G, Saliba J, Sleiman R, Tofaili M, Kibbi AG, Ito M, Shimomura Y. Hum Mutat; 2013 Apr; 34(4):578-81. PubMed ID: 23315978 [Abstract] [Full Text] [Related]
18. Ectodermal dysplasias. Itin PH, Fistarol SK. Am J Med Genet C Semin Med Genet; 2004 Nov 15; 131C(1):45-51. PubMed ID: 15468153 [Abstract] [Full Text] [Related]
19. Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformity. Oh SW, Kim MY, Lee JS, Kim SC. J Dermatol; 2006 Mar 15; 33(3):161-4. PubMed ID: 16620218 [Abstract] [Full Text] [Related]