These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

167 related articles for article (PubMed ID: 20161816)

  • 21. AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration.
    Li D; Jin C; Jiao X; Li L; Bushra T; Naeem MA; Butt NH; Husnain T; Sieving PA; Riazuddin S; Riazuddin SA; Hejtmancik JF
    Mol Vis; 2014; 20():1-14. PubMed ID: 24426771
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Fine mapping of chromosome 9 locus associated with congenital cataract.
    Kaul H; Hussain S; Mustafa G; Naz S
    Int Ophthalmol; 2018 Jun; 38(3):1187-1192. PubMed ID: 28585112
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.
    Chen J; Wang Q; Cabrera PE; Zhong Z; Sun W; Jiao X; Chen Y; Govindarajan G; Naeem MA; Khan SN; Ali MH; Assir MZ; Rahman FU; Qazi ZA; Riazuddin S; Akram J; Riazuddin SA; Hejtmancik JF
    Invest Ophthalmol Vis Sci; 2017 Apr; 58(4):2207-2217. PubMed ID: 28418495
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Mutations in
    Iqbal H; Khan SY; Zhou L; Irum B; Ali M; Ahmed MR; Shahzad M; Ali MH; Naeem MA; Riazuddin S; Hejtmancik JF; Riazuddin SA
    Mol Vis; 2020; 26():334-344. PubMed ID: 32355443
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.
    Cohen D; Bar-Yosef U; Levy J; Gradstein L; Belfair N; Ofir R; Joshua S; Lifshitz T; Carmi R; Birk OS
    Invest Ophthalmol Vis Sci; 2007 May; 48(5):2208-13. PubMed ID: 17460281
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3.
    Chishti MS; Lee K; McDonald ML; Hassan MJ; Ansar M; Ahmad W; Leal SM
    J Hum Genet; 2009 Mar; 54(3):141-4. PubMed ID: 19229252
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.
    Irum B; Khan SY; Ali M; Kaul H; Kabir F; Rauf B; Fatima F; Nadeem R; Khan AO; Al Obaisi S; Naeem MA; Nasir IA; Khan SN; Husnain T; Riazuddin S; Akram J; Eghrari AO; Riazuddin SA
    PLoS One; 2016; 11(11):e0162620. PubMed ID: 27814360
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.
    Khan SY; Ali S; Naeem MA; Khan SN; Husnain T; Butt NH; Qazi ZA; Akram J; Riazuddin S; Ayyagari R; Hejtmancik JF; Riazuddin SA
    Mol Vis; 2015; 21():871-82. PubMed ID: 26321862
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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; 127(4):395-401. PubMed ID: 20054564
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A new locus for autosomal dominant congenital coronary cataract in a Chinese family maps to chromosome 3q.
    Liu G; Li Y; Ruan Y; Cao W; Xin L; Qian J; Gu J
    Mol Vis; 2010 May; 16():874-9. PubMed ID: 20508730
    [TBL] [Abstract][Full Text] [Related]  

  • 32. An autosomal dominant cataract locus mapped to 19q13-qter in a Chinese family.
    Zhao R; Yang Y; He X; Liu Z; Wang P; Zhou L; Tang J; Xu W; Li L; Zhu Y
    Mol Vis; 2011 Jan; 17():265-9. PubMed ID: 21283564
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia.
    Yang Z; Xiao X; Li S; Zhang Q
    Mol Vis; 2009; 15():312-8. PubMed ID: 19204786
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A new locus for autosomal recessive RP (RP29) mapping to chromosome 4q32-q34 in a Pakistani family.
    Hameed A; Khaliq S; Ismail M; Anwar K; Mehdi SQ; Bessant D; Payne AM; Bhattacharya SS
    Invest Ophthalmol Vis Sci; 2001 Jun; 42(7):1436-8. PubMed ID: 11381043
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
    Zhang Q; Zulfiqar F; Riazuddin SA; Xiao X; Ahmad Z; Riazuddin S; Hejtmancik JF
    Mol Vis; 2004 Nov; 10():884-9. PubMed ID: 15570217
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families.
    Riazuddin SA; Zulfiqar F; Zhang Q; Yao W; Li S; Jiao X; Shahzadi A; Amer M; Iqbal M; Hussnain T; Sieving PA; Riazuddin S; Hejtmancik JF
    Mol Vis; 2006 Oct; 12():1283-91. PubMed ID: 17110911
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32.
    Wali A; Chishti M; Ayub M; Yasinzai M; Kafaitullah ; Ali G; John P; Ahmad W
    Clin Genet; 2007 Jul; 72(1):23-9. PubMed ID: 17594396
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.
    Ansar M; Lee K; Naqvi SK; Andrade PB; Basit S; Santos-Cortez RL; Ahmad W; Leal SM
    J Hum Genet; 2011 Dec; 56(12):866-8. PubMed ID: 21937999
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.
    Héon E; Paterson AD; Fraser M; Billingsley G; Priston M; Balmer A; Schorderet DF; Verner A; Hudson TJ; Munier FL
    Am J Hum Genet; 2001 Mar; 68(3):772-7. PubMed ID: 11179024
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21.
    Boyadjiev SA; Justice CM; Eyaid W; McKusick VA; Lachman RS; Chowdry AB; Jabak M; Zwaan J; Wilson AF; Jabs EW
    Hum Genet; 2003 Jul; 113(1):1-9. PubMed ID: 12677423
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.