Mansoor Sarfarazi : rechercher sur Z-Library

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1

Xenobiotic‐metabolizing Cytochromes P450 in Ontogeny: Evolving Perspective

Choudhary, Dharamainder, Jansson, Ingela, Sarfarazi, Mansoor, Schenkman, John B.

Journal:

Drug Metabolism Reviews

Année:

2004

Langue:

english

Fichier:

PDF, 291 KB

english, 2004

2

Exclusion of primary congenital glaucoma (buphthalmos) from two candidate regions of chromosome arm 6p and chromosome 11

Akarsu, A. Nurten, Turacli, M. Erol, Aktan, S. Gulderen, Hossain, Altaf, Barsoum-Homsy, Magda, Chevrette, Line, Sayli, B. Sitki, Sarfarazi, Mansoor

Journal:

American Journal of Medical Genetics

Année:

1996

Fichier:

PDF, 299 KB

1996

3

An integrated microcomputer system to maintain a genetic register for Huntington disease

Mansoor Sarfarazi, Oliver W. J. Quarrell, Geoffrey Wolak, Peter S. Harper, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1987

Langue:

english

Fichier:

PDF, 393 KB

english, 1987

4

Report on genetic linkage analysis between Huntington's disease and the G8 DNA polymorphism

Mansoor Sarfarazi

Journal:

Genetic Epidemiology

Année:

1986

Langue:

english

Fichier:

PDF, 266 KB

english, 1986

5

Enhanced expression of CYP1B1 in Escherichia coli

Ingela Jansson, Ivaylo Stoilov, Mansoor Sarfarazi, John B Schenkman

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 189 KB

english, 2000

6

Linkage relationships of the apolipoprotein C1 gene and a cytochrome P450 gene (CYP2A) to myotonic dystrophy

Kathryn V. Walsh, Helen G. Harley, J. David Brook, Shelley A. Rundle, Mansoor Sarfarazi, Peter S. Harper, Duncan J. Shaw

Journal:

Année:

1990

Langue:

english

Fichier:

PDF, 807 KB

english, 1990

7

Lymphoedema-distichiasis andFOXC2: unreported mutations, de novo mutation estimate, families without coding mutations

Carolyn Sholto-Douglas-Vernon, Rachel Bell, Glen Brice, Sahar Mansour, Mansoor Sarfarazi, Anne H. Child, Alberto Smith, Russell Mellor, Kevin Burnand, Peter Mortimer, Steve Jeffery

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 258 KB

english, 2005

8

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

Lee, Brendan, Godfrey, Maurice, Vitale, Emilia, Hori, Hisae, Mattei, Marie-Geneviéve, Sarfarazi, Mansoor, Tsipouras, Petros, Ramirez, Francesco, Hollister, David W.

Journal:

Année:

1991

Fichier:

PDF, 742 KB

1991

9

10.1038/78071

Sarfarazi, Mansoor, McInnes, Roderick R., Ferda Percin, E., Ploder, Lynda A., Yu, Jessica J., Arici, Kemal, Jonathan Horsford, D., Rutherford, Adam, Bapat, Bharati, Cox, Diane W., Duncan, Alessandra M

Journal:

Nature Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 609 KB

english, 2000

10

Assignment of a Locus (GLC3A) for Primary Congenital Glaucoma (Buphthalmos) to 2p21 and Evidence for Genetic Heterogeneity

Mansoor Sarfarazi, Nurten A. Akarsu, Altaf Hossain, Erol M. Turacli, Gulderen S. Aktan, Magda Barsoum-Homsy, Line Chevrette, Sitki B. Sayli

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 124 KB

english, 1995

11

Localization of a Locus (GLC1B) for Adult-Onset Primary Open Angle Glaucoma to the 2cen–q13 Region

Diliana Stoilova, Anne Child, Ovidiu C. Trifan, R.Pitts Crick, Roger L. Coakes, Mansoor Sarfarazi

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 156 KB

english, 1996

12

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, John B. Schenkman

Journal:

Archives of Biochemistry and Biophysics

Année:

2005

Langue:

english

Fichier:

PDF, 842 KB

english, 2005

13

Genotype and Phenotype Correlations in Congenital Glaucoma: CYP1B1 Mutations, Goniodysgenesis, and Clinical Characteristics

David A. Hollander, Mansoor Sarfarazi, Ivaylo Stoilov, Irmgard S. Wood, Douglas R. Fredrick, Jorge A. Alvarado

Journal:

American Journal of Ophthalmology

Année:

2006

Langue:

english

Fichier:

PDF, 3.81 MB

english, 2006

14

The Use of Microarray Technology in Deciphering the Cause of Genetic Eye Diseases: LOXL1 and Exfoliation Syndrome

Elias I. Traboulsi, Mansoor Sarfarazi

Journal:

American Journal of Ophthalmology

Année:

2008

Langue:

english

Fichier:

PDF, 64 KB

english, 2008

15

Molecular cloning, genomic structure, and protein characterization of mouse optineurin

Tayebeh Rezaie, Mansoor Sarfarazi

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 832 KB

english, 2005

16

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, Randall Nguyen, Sharath Raja, Mansoor Sarfarazi

Journal:

American Journal of Ophthalmology

Année:

1998

Langue:

english

Fichier:

PDF, 439 KB

english, 1998

17

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, Richard Mendola, Gail Dalsky

Journal:

The Journal of Pediatrics

Année:

1993

Langue:

english

Fichier:

PDF, 636 KB

english, 1993

18

Family pedigree analysis of children with severe breath-holding spells

Francis J. DiMario Jr., Mansoor Sarfarazi

Journal:

The Journal of Pediatrics

Année:

1997

Langue:

english

Fichier:

PDF, 445 KB

english, 1997

19

Identification, expression and chromosome localization of a human gene encoding a novel protein with similarity to the pilB family of transcriptional factors (pilin) and to bacterial peptide methionine sulfoxide reductases

Wenhu Huang, Julio Escribano, Mansoor Sarfarazi, Miguel Coca-Prados

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 429 KB

english, 1999

20

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, Trushna Desai, Ovidiu C. Trifan, Darmalingum Poinoosawmy, R. Pitts Crick

Journal:

The American Journal of Human Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 2.18 MB

english, 1998

21

Mapping of Primary Congenital Lymphedema to the 5q35.3 Region

Alison L. Evans, Glen Brice, Vihra Sotirova, Peter Mortimer, Joseph Beninson, Kevin Burnand, Jane Rosbotham, Anne Child, Mansoor Sarfarazi

Journal:

The American Journal of Human Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 1.45 MB

english, 1999

22

Evidence against location of the gene for facioscapulohumeral muscular dystrophy on the distal long arm of chromosome 14

Peter W. Lunt, Jean G. Noades, Meena Upadhyaya, Mansoor Sarfarazi, Peter S. Harper

Journal:

Journal of the Neurological Sciences

Année:

1988

Langue:

english

Fichier:

PDF, 281 KB

english, 1988

23

Improved definition of carrier status in X-linked hypohidrotic ectodermal dysplasia by use of restriction fragment length polymorphism-based linkage analysis

Jonathan Zonana, Mansoor Sarfarazi, Nicholas S.T. Thomas, Angus Clarke, Kathi Marymee, Peter S. Harper

Journal:

The Journal of Pediatrics

Année:

1989

Langue:

english

Fichier:

PDF, 582 KB

english, 1989

24

LTBP2 gene analysis in the GLC3C -linked family and 94 CYP1B1 -negative cases with primary congenital glaucoma

Sharafieh, Roshanak, Child, Anne H., Khaw, Peng T., Fleck, Brian, Sarfarazi, Mansoor

Journal:

Ophthalmic Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 661 KB

english, 2013

25

Chromosome 17 markers and von Recklinghausen neurofibromatosis: A genetic linkage study in a British population

Upadhyaya, Meena, Sarfarazi, Mansoor, Huson, Susan M., Stephens, Karen, Broadhead, Wendy, Harper, Peter S.

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 316 KB

english, 1987

26

A new DNA marker (D4S90) is located terminally on the short arm of chromosome 4, close to the Huntington disease gene

Youngman, Sandra, Sarfarazi, Mansoor, Bucan, Maja, MacDonald, Marcy, Smith, Barbara, Zimmer, Michael, Gilliam, Conrad, Frischauf, Anna-Maria, Wasmuth, John J., Gusella, James F.

Journal:

Année:

1989

Langue:

english

Fichier:

PDF, 892 KB

english, 1989

27

PRENATAL DIAGNOSIS OF DUCHENNE DYSTROPHY

Harper, PeterS., Williams, Hywel, Thomas, Nick, Sarfarazi, Mansoor

Journal:

Année:

1985

Langue:

english

Fichier:

PDF, 158 KB

english, 1985

28

Analysis of Rare Variants and Common Haplotypes in the Optineurin Gene in Swedish Glaucoma Cases

Jansson, Mattias, Wadelius, Claes, Rezaie, Tayebeh, Sarfarazi, Mansoor

Journal:

Ophthalmic Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 77 KB

english, 2005

29

Limb-Girdle Muscular Dystrophy is Closely Linked to the Fibrillin Locus on Chromosome 15

Velinov, Milen, Sarfarazi, Mansoor, Young, Katherine, Hodes, M. E., Conneally, P. M., Jackson, Charles E., Tsipouras, Petros

Journal:

Connective Tissue Research

Année:

1993

Langue:

english

Fichier:

PDF, 321 KB

english, 1993

30

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

Tsipouras, Petros, Del Mastro, Richard, Sarfarazi, Mansoor, Lee, Brendan, Vitale, Emilia, Child, Anne H., Godfrey, Maurice, Devereux, Richard B., Hewett, Duncan, Steinmann, Beat, Viljoen, Denis, Sykes

Journal:

Boston Medical and Surgical Journal

Année:

1992

Langue:

english

Fichier:

PDF, 727 KB

english, 1992

31

Refinement of the locus for autosomal dominant juvenile optic atrophy to a 2 cM region on 3q28

Stoilova, Diliana, Child, Anne, Desai, S. P., Sarfarazi, Mansoor

Journal:

Ophthalmic Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 447 KB

english, 1997

32

Familial Papillary Thyroid Carcinoma is Genetically Distinct from Familial Adenomatous Polyposis Coli

MALCHOFF, CARL D., SARFARAZI, MANSOOR, TENDLER, BEATRIZ, FOROUHAR, FARIPOUR, WHALEN, GILES, MALCHOFF, DIANA M.

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 2.11 MB

english, 1999

33

Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker

Sarfarazi, Mansoor, Akarsu, A.Nurten, Sayli, Bekir Sitki

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 1.84 MB

english, 1995

34

Defining the Pathogenicity of Optineurin in Juvenile Open-Angle Glaucoma

Willoughby, Colin E., Chan, Louie Loh Yen, Herd, Sarah, Billingsley, Gail, Noordeh, Nima, Levin, Alex V., Buys, Yvonne, Trope, Graham, Sarfarazi, Mansoor, He´on, Elise

Journal:

Investigative Ophthalmology & Visual Science

Année:

2004

Langue:

english

Fichier:

PDF, 343 KB

english, 2004

35

Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with Waardenburg syndrome Type I

Sotirova, Vihra N., Rezaie, Tayebeh, Khoshsorour, M.R., Sarfarazi, Mansoor

Journal:

Ophthalmic Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 132 KB

english, 2000

36

The GLC1H Glaucoma Locus May Reflect Glaucoma With Elevated Intraocular Pressure—Reply

Sarfarazi, Mansoor

Journal:

Archives of Ophthalmology

Année:

2007

Langue:

english

Fichier:

PDF, 48 KB

english, 2007

37

Molecular genetics of primary congenital glaucoma

Sarfarazi, Mansoor, Stoilov, Ivaylo

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 524 KB

english, 2000

38

Genetic Screening of Leber Congenital Amaurosis in a Large Consanguineous Iranian Family

Rezaie, Tayebeh, Karimi-Nejad, Mohammad-Hassan, Meshkat, Mohammad-Reza, Sohbati, Saeed, Karimi-Nejad, Roxana, Najmabadi, Hossein, Sarfarazi, Mansoor

Journal:

Ophthalmic Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 1.03 MB

english, 2007

39

Papillary Thyroid Carcinoma Associated with Papillary Renal Neoplasia: Genetic Linkage Analysis of a Distinct Heritable Tumor Syndrome 1

Malchoff, Carl D., Sarfarazi, Mansoor, Tendler, Beatriz, Forouhar, Faripour, Whalen, Giles, Joshi, Vijay, Arnold, Andrew, Malchoff, Diana M.

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2000

Langue:

english

Fichier:

PDF, 366 KB

english, 2000

40

Identification of a new ‘TIGR’ mutation in a family with juvenile-onset primary open angle glaucoma

Stoilova, Diliana, Child, Anne, Brice, Glen, Crick, R. Pitts, Fleck, B. W., Sarfarazi, Mansoor

Journal:

Ophthalmic Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 1.65 MB

english, 1997

41

Effect of two mutations of human CYP1B1, G61E and R469W, on stability and endogenous steroid substrate metabolism

Jansson, Ingela, Stoilov, Ivaylo, Sarfarazi, Mansoor, Schenkman, John B.

Journal:

Pharmacogenetics

Année:

2001

Langue:

english

Fichier:

PDF, 756 KB

english, 2001

42

Stepwise Differentiation of Retinal Ganglion Cells from Human Pluripotent Stem Cells Enables Analysis of Glaucomatous Neurodegeneration

Ohlemacher, Sarah K., Sridhar, Akshayalakshmi, Xiao, Yucheng, Hochstetler, Alexandra E., Sarfarazi, Mansoor, Cummins, Theodore R., Meyer, Jason S.

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 836 KB

english, 2016

43

Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma

Choudhary, Dharamainder, Jansson, Ingela, Sarfarazi, Mansoor, Schenkman, John B.

Journal:

Pharmacogenetics and Genomics

Année:

2008

Langue:

english

Fichier:

PDF, 385 KB

english, 2008

44

Marfan Syndrome is Closely Linked to a Marker on Chromosome 15q1.5→q2.1

Petros Tsipouras, Mansoor Sarfarazi, Anne Devi, Barbara Weiffenbach and Maureen Boxer

Journal:

Proceedings of the National Academy of Sciences

Année:

1991

Langue:

english

Fichier:

PDF, 621 KB

english, 1991

45

Clinical Features and Course of Patients with Glaucoma with the E50K Mutation in the Optineurin Gene

Aung, Tin, Rezaie, Tayebeh, Okada, Koji, Viswanathan, Ananth C., Child, Anne H., Brice, Glen, Bhattacharya, Shomi S., Lehmann, Ordan J., Sarfarazi, Mansoor, Hitchings, Roger A.

Journal:

Investigative Ophthalmology & Visual Science

Année:

2005

Langue:

english

Fichier:

PDF, 344 KB

english, 2005

46

Genome-wide association study in primary angle closure glaucoma

Sarfarazi, Mansoor

Journal:

Annals of Eye Science

Année:

2018

Langue:

english

Fichier:

PDF, 157 KB

english, 2018