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Journal Abstract Search

167 related items for PubMed ID: 19221800

  • 1. Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3.
    Tariq M, Khan MN, Ahmad W.
    Hum Genet; 2009 May; 125(4):421-9. PubMed ID: 19221800
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  • 3. Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1).
    Jelani M, Chishti MS, Ahmad W.
    J Hum Genet; 2011 May; 56(5):352-7. PubMed ID: 21346770
    [Abstract] [Full Text] [Related]

  • 4. 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 May; 10(6):e0129811. PubMed ID: 26115030
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  • 6. A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome.
    Ahmad F, Nasir A, Thiele H, Umair M, Borck G, Ahmad W.
    Ann Hum Genet; 2018 Jul; 82(4):232-238. PubMed ID: 29430627
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  • 7. A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1.
    Hajra B, Abdullah, Bibi N, Syed F, Ullah A, Ahmad W, Umm-E-Kalsoom.
    An Bras Dermatol; 2023 Jul; 98(5):580-586. PubMed ID: 37183149
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation.
    Rasool M, Nawaz S, Azhar A, Wajid M, Westermark P, Baig SM, Klar J, Dahl N.
    Eur J Dermatol; 2010 Feb; 20(4):443-6. PubMed ID: 20409997
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  • 10. 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
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  • 11. [Association of ectodermal dysplasia and syndactylia].
    Boudghene-Stambouli O, Merad-Boudia A.
    Ann Dermatol Venereol; 1991 Dec; 118(2):107-10. PubMed ID: 1646587
    [No Abstract] [Full Text] [Related]

  • 12. Unusual manifestations of ectodermal dysplasia-syndactyly syndrome type I in two Yemeni siblings.
    Mohammad A.
    Dermatol Online J; 2015 Jan 15; 21(1):. PubMed ID: 25612123
    [Abstract] [Full Text] [Related]

  • 13. Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3-p22.3 in a Pakistani family and screening of the candidate genes.
    Basit S, Ali G, Wasif N, Ansar M, Ahmad W.
    Hum Genet; 2010 Aug 15; 128(2):213-20. PubMed ID: 20544222
    [Abstract] [Full Text] [Related]

  • 14. A novel homozygous nonsense mutation in the PVRL4 gene and expansion of clinical spectrum of EDSS1.
    Raza SI, Nasser Dar R, Shah AA, Ahmad W.
    Ann Hum Genet; 2015 Mar 15; 79(2):92-8. PubMed ID: 25529316
    [Abstract] [Full Text] [Related]

  • 15. 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 15; 32(5):502-5. PubMed ID: 17489990
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  • 16. A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.
    Ali G, Sadia S, Ain-Ul-Batool S, Azeem Z, Awan NB, Kazmi SAR, Ur-Rehman Z, Anjum Z, Ur-Rehman F, Wali A, Khan K, Zaman N, Ayub M, Sajid M, Hassan N.
    Genet Res (Camb); 2023 Sep 15; 2023():9999660. PubMed ID: 37829154
    [Abstract] [Full Text] [Related]

  • 17. Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.
    Brancati F, Fortugno P, Bottillo I, Lopez M, Josselin E, Boudghene-Stambouli O, Agolini E, Bernardini L, Bellacchio E, Iannicelli M, Rossi A, Dib-Lachachi A, Stuppia L, Palka G, Mundlos S, Stricker S, Kornak U, Zambruno G, Dallapiccola B.
    Am J Hum Genet; 2010 Aug 13; 87(2):265-73. PubMed ID: 20691405
    [Abstract] [Full Text] [Related]

  • 18. Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.
    Raykova D, Klar J, Azhar A, Khan TN, Malik NA, Iqbal M, Tariq M, Baig SM, Dahl N.
    PLoS One; 2014 Aug 13; 9(4):e93607. PubMed ID: 24714551
    [Abstract] [Full Text] [Related]

  • 19. Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23–22.3.
    Naz G, Ali G, Naqvi SK, Azeem Z, Ahmad W.
    Hum Genet; 2010 Apr 13; 127(4):395-401. PubMed ID: 20054564
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  • 20. Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.
    Sprecher E, Itin P, Whittock NV, McGrath JA, Meyer R, DiGiovanna JJ, Bale SJ, Uitto J, Richard G.
    J Invest Dermatol; 2002 Sep 13; 119(3):692-8. PubMed ID: 12230514
    [Abstract] [Full Text] [Related]

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