Mansoor Sarfarazi

Overview

Best Publications

• Adult-onset primary open-angle glaucoma caused by mutations in optineurin.

  Tayebeh Rezaie;Anne Child;Anne Child;Roger Hitchings;Glen Brice;Glen Brice

  1286
  Citations

• Identification of Three Different Truncating Mutations in Cytochrome P4501B1 (CYP1B1) as the Principal Cause of Primary Congenital Glaucoma (Buphthalmos) in Families Linked to the GLC3A Locus on Chromosome 2p21

  I Stoilov;A N Akarsu;M Sarfarazi

  868
  Citations

• Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

  Brendan Lee;Maurice Godfrey;Emilia Vitale;Hisae Hori

  846
  Citations

• Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1

  Sharareh Monemi;George Spaeth;Alexander DaSilva;Samuel Popinchalk

  564
  Citations

• Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on 2p21 Results from Mutations Disrupting Either the Hinge Region or the Conserved Core Structures of Cytochrome P4501B1

  I Stoilov;A N Akarsu;I Alozie;A Child

  500
  Citations

• Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome

  K.E. Davies;P.L. Pearson;P.S. Harper;J.M. Murray;J.M. Murray

  492
  Citations

• Expression patterns of mouse and human CYP orthologs (families 1-4) during development and in different adult tissues.

  Dharamainder Choudhary;Ingela Jansson;Ivaylo Stoilov;Mansoor Sarfarazi

  352
  Citations

• Comparative expression profiling of 40 mouse cytochrome P450 genes in embryonic and adult tissues.

  D. Choudhary;I. Jansson;J.B. Schenkman;M. Sarfarazi

  348
  Citations

• Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24

  G Brice;S Mansour;R Bell;J R O Collin

  343
  Citations

• Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity.

  M Sarfarazi;A N Akarsu;A Hossain;M E Turacli

  337
  Citations

• Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.

  E Ferda Percin;L A Ploder;J J Yu;K Arici

  331
  Citations

• Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region

  D Stoilova;A Child;O C Trifan;R P Crick

  323
  Citations

• Localization of the Fourth Locus (GLC1E) For Adult-Onset Primary Open- Angle Glaucoma to the 10p15-p14 Region

  Mansoor Sarfarazi;Anne Child;Diliana Stoilova;Glen Brice

  322
  Citations

• A Second Locus (GLC3B) for Primary Congenital Glaucoma (Buphthalmos) Maps to the 1p36 Region

  A. Nurten Akarsu;M. Erol Turacli;S. Gulderen Aktan;Magda Barsoum-Homsy

  320
  Citations

• Genetic Linkage of the Marfan Syndrome, Ectopia Lentis, and Congenital Contractural Arachnodactyly to the Fibrillin Genes on Chromosomes 15 and 5

  Tsipouras P;Del Mastro R;Sarfarazi M;Lee B

  306
  Citations

• Papillary thyroid carcinoma associated with papillary renal neoplasia: genetic linkage analysis of a distinct heritable tumor syndrome.

  Carl D. Malchoff;Mansoor Sarfarazi;Beatriz Tendler;Faripour Forouhar

  270
  Citations

• METABOLISM OF RETINOIDS AND ARACHIDONIC ACID BY HUMAN AND MOUSE CYTOCHROME P450 1B1

  Dharamainder Choudhary;Ingela Jansson;Ivaylo Stoilov;Mansoor Sarfarazi

  265
  Citations

• Predictors of axial and peripheral bone mineral density in healthy children and adolescents, with special attention to the role of puberty

  Karen Rubin;Victoria Schirduan;Paula Gendreau;Mansoor Sarfarazi

  251
  Citations

• Recent Advances in Molecular Genetics of Glaucomas

  Mansoor Sarfarazi

  249
  Citations

• A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region.

  Ovidiu C Trifan;Elias I Traboulsi;Diliana Stoilova;Ihuoma Alozie

  236
  Citations