BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

123 related articles for article (PubMed ID: 23234511)

  • 21. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family.
    Ahmad F; Ahmed I; Nasir A; Umair M; Shahzad S; Muhammad D; Santos-Cortez RLP; Leal SM; Ahmad W
    Eur J Dermatol; 2018 Apr; 28(2):209-216. PubMed ID: 29611532
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Santos syndrome is caused by mutation in the WNT7A gene.
    Alves LU; Santos S; Musso CM; Ezquina SA; Opitz JM; Kok F; Otto PA; Mingroni-Netto RC
    J Hum Genet; 2017 Dec; 62(12):1073-1078. PubMed ID: 28855715
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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. PubMed ID: 18184143
    [TBL] [Abstract][Full Text] [Related]  

  • 24. XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect.
    Ijaz A; Basit S; Gul A; Batool L; Hussain A; Afzal S; Ramzan K; Ahmad J; Wali A
    Congenit Anom (Kyoto); 2019 Jan; 59(1):18-21. PubMed ID: 29569758
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family.
    Khan S; Ansar M; Khan AK; Shah K; Muhammad N; Shahzad S; Nickerson DA; Bamshad MJ; Santos-Cortez RLP; Leal SM; Ahmad W
    Br J Dermatol; 2018 Feb; 178(2):556-558. PubMed ID: 28504827
    [No Abstract]   [Full Text] [Related]  

  • 27. Disease causing homozygous variants in the human hairless gene.
    Mehmood S; Jan A; Raza SI; Ahmad F; Younus M; Irfanullah ; Shahi S; Ayub M; Khan S; Ahmad W
    Int J Dermatol; 2016 Sep; 55(9):977-81. PubMed ID: 26680117
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Total congenital anonychia.
    Afsar FS; Karakuzu A
    Pediatr Dermatol; 2014; 31(6):743-4. PubMed ID: 25424215
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefèvre syndrome.
    Kurban M; Wajid M; Shimomura Y; Bahhady R; Kibbi AG; Christiano AM
    Dermatology; 2009; 219(4):289-94. PubMed ID: 19816003
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.
    Umair M; Hassan A; Jan A; Ahmad F; Imran M; Samman MI; Basit S; Ahmad W
    J Hum Genet; 2016 Mar; 61(3):207-13. PubMed ID: 26538303
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A novel mutation in lysophosphatidic acid receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect.
    Azhar A; Tariq M; Baig SM; Dahl N; Klar J
    Eur J Dermatol; 2012; 22(4):464-6. PubMed ID: 22531990
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A novel mutation in RDH5 gene causes retinitis pigmentosa in consanguineous Pakistani family.
    Sultan N; Ali I; Bukhari SA; Baig SM; Asif M; Qasim M; Naseer MI; Rasool M
    Genes Genomics; 2018 May; 40(5):553-559. PubMed ID: 29892959
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.
    Basit S; Naqvi SK; Wasif N; Ali G; Ansar M; Ahmad W
    BMC Med Genet; 2008 Nov; 9():102. PubMed ID: 19038017
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma.
    Micheal S; Ayub H; Zafar SN; Bakker B; Ali M; Akhtar F; Islam F; Khan MI; Qamar R; den Hollander AI
    Clin Exp Ophthalmol; 2015; 43(1):31-9. PubMed ID: 25091052
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.
    Ullah I; Kabir F; Iqbal M; Gottsch CB; Naeem MA; Assir MZ; Khan SN; Akram J; Riazuddin S; Ayyagari R; Hejtmancik JF; Riazuddin SA
    Mol Vis; 2016; 22():797-815. PubMed ID: 27440997
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family.
    Jiao X; Khan SY; Kaul H; Butt T; Naeem MA; Riazuddin S; Hejtmancik JF; Riazuddin SA
    PLoS One; 2019; 14(12):e0225010. PubMed ID: 31815953
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.
    Riazuddin SA; Zulfiqar F; Zhang Q; Sergeev YV; Qazi ZA; Husnain T; Caruso R; Riazuddin S; Sieving PA; Hejtmancik JF
    Invest Ophthalmol Vis Sci; 2005 Jul; 46(7):2264-70. PubMed ID: 15980210
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome.
    Ullah A; Umair M; Ahmad F; Muhammad D; Basit S; Ahmad W
    Ophthalmic Genet; 2017; 38(4):335-339. PubMed ID: 28085523
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.