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 *

310 related articles for article (PubMed ID: 28418496)

  • 1. Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.
    Li L; Chen Y; Jiao X; Jin C; Jiang D; Tanwar M; Ma Z; Huang L; Ma X; Sun W; Chen J; Ma Y; M'hamdi O; Govindarajan G; Cabrera PE; Li J; Gupta N; Naeem MA; Khan SN; Riazuddin S; Akram J; Ayyagari R; Sieving PA; Riazuddin SA; Hejtmancik JF
    Invest Ophthalmol Vis Sci; 2017 Apr; 58(4):2218-2238. PubMed ID: 28418496
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.
    Saqib MA; Nikopoulos K; Ullah E; Sher Khan F; Iqbal J; Bibi R; Jarral A; Sajid S; Nishiguchi KM; Venturini G; Ansar M; Rivolta C
    Sci Rep; 2015 May; 5():9965. PubMed ID: 25943428
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Homozygosity mapping of autosomal recessive intellectual disability loci in 11 consanguineous Pakistani families.
    Ahmed I; Rafiq MA; Vincent JB; Bhatti A; Ayub M; John P
    Acta Neuropsychiatr; 2015 Feb; 27(1):38-47. PubMed ID: 25434728
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.
    Beryozkin A; Zelinger L; Bandah-Rozenfeld D; Shevach E; Harel A; Storm T; Sagi M; Eli D; Merin S; Banin E; Sharon D
    Invest Ophthalmol Vis Sci; 2014 Feb; 55(2):1149-60. PubMed ID: 24474277
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.
    Singh HP; Jalali S; Narayanan R; Kannabiran C
    Invest Ophthalmol Vis Sci; 2009 Sep; 50(9):4065-71. PubMed ID: 19339744
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan.
    Rafiq MA; Ansar M; Marshall CR; Noor A; Shaheen N; Mowjoodi A; Khan MA; Ali G; Amin-ud-Din M; Feuk L; Vincent JB; Scherer SW
    Clin Genet; 2010 Nov; 78(5):478-83. PubMed ID: 20345473
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.
    Ajmal M; Khan MI; Micheal S; Ahmed W; Shah A; Venselaar H; Bokhari H; Azam A; Waheed NK; Collin RW; den Hollander AI; Qamar R; Cremers FP
    Mol Vis; 2012; 18():1226-37. PubMed ID: 22665969
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan.
    Khan MI; Ajmal M; Micheal S; Azam M; Hussain A; Shahzad A; Venselaar H; Bokhari H; de Wijs IJ; Hoefsloot LH; Waheed NK; Collin RW; den Hollander AI; Qamar R; Cremers FP
    Clin Genet; 2013 Sep; 84(3):290-3. PubMed ID: 23134348
    [No Abstract]   [Full Text] [Related]  

  • 10. Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3.
    Finckh U; Xu S; Kumaramanickavel G; Schürmann M; Mukkadan JK; Fernandez ST; John S; Weber JL; Denton MJ; Gal A
    Genomics; 1998 Mar; 48(3):341-5. PubMed ID: 9545639
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
    Reuter MS; Tawamie H; Buchert R; Hosny Gebril O; Froukh T; Thiel C; Uebe S; Ekici AB; Krumbiegel M; Zweier C; Hoyer J; Eberlein K; Bauer J; Scheller U; Strom TM; Hoffjan S; Abdelraouf ER; Meguid NA; Abboud A; Al Khateeb MA; Fakher M; Hamdan S; Ismael A; Muhammad S; Abdallah E; Sticht H; Wieczorek D; Reis A; Abou Jamra R
    JAMA Psychiatry; 2017 Mar; 74(3):293-299. PubMed ID: 28097321
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.
    Azam M; Khan MI; Gal A; Hussain A; Shah ST; Khan MS; Sadeque A; Bokhari H; Collin RW; Orth U; van Genderen MM; den Hollander AI; Cremers FP; Qamar R
    Mol Vis; 2009 Dec; 15():2526-34. PubMed ID: 19960070
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family.
    Anjum I; Eiberg H; Baig SM; Tommerup N; Hansen L
    Mol Vis; 2010 Mar; 16():549-55. PubMed ID: 20361012
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly.
    Kousar R; Hassan MJ; Khan B; Basit S; Mahmood S; Mir A; Ahmad W; Ansar M
    BMC Neurol; 2011 Oct; 11():119. PubMed ID: 21961505
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy.
    Kabir F; Naz S; Riazuddin SA; Naeem MA; Khan SN; Husnain T; Akram J; Sieving PA; Hejtmancik JF; Riazuddin S
    Mol Vis; 2013; 19():1554-64. PubMed ID: 23878505
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis.
    Petukhova L; Shimomura Y; Wajid M; Gorroochurn P; Hodge SE; Christiano AM
    Hum Hered; 2009; 68(2):117-30. PubMed ID: 19365138
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.
    Srilekha S; Arokiasamy T; Srikrupa NN; Umashankar V; Meenakshi S; Sen P; Kapur S; Soumittra N
    PLoS One; 2015; 10(7):e0131679. PubMed ID: 26147992
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.
    Ilyas M; Efthymiou S; Salpietro V; Noureen N; Zafar F; Rauf S; Mir A; Houlden H
    BMC Med Genet; 2020 Mar; 21(1):59. PubMed ID: 32209057
    [TBL] [Abstract][Full Text] [Related]  

  • 20. CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene.
    Danciger M; Hendrickson J; Lyon J; Toomes C; McHale JC; Fishman GA; Inglehearn CF; Jacobson SG; Farber DB
    Invest Ophthalmol Vis Sci; 2001 Oct; 42(11):2458-65. PubMed ID: 11581183
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.