| Year |
Citation |
Score |
| 2018 |
Sarfarazi M. Targeted Screening for Predominant CYP1B1 Mutations in Primary Congenital Glaucoma. Journal of Ophthalmic & Vision Research. 13: 373-375. PMID 30479704 DOI: 10.4103/Jovr.Jovr_232_18 |
0.33 |
|
| 2018 |
Sarfarazi M. Genome-wide association study in primary angle closure glaucoma Annals of Eye Science. 2: 4-4. DOI: 10.21037/Aes.2017.01.04 |
0.396 |
|
| 2015 |
de Melo MB, Mandal AK, Tavares IM, Ali MH, Kabra M, de Vasconcellos JP, Senthil S, Sallum JM, Kaur I, Betinjane AJ, Moura CR, Paula JS, Costa KA, Sarfarazi M, Paolera MD, et al. Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil. Plos One. 10: e0127147. PMID 25978063 DOI: 10.1371/Journal.Pone.0127147 |
0.404 |
|
| 2013 |
Sharafieh R, Child AH, Khaw PT, Fleck B, Sarfarazi M. LTBP2 gene analysis in the GLC3C-linked family and 94 CYP1B1-negative cases with primary congenital glaucoma. Ophthalmic Genetics. 34: 14-20. PMID 22924778 DOI: 10.3109/13816810.2012.716486 |
0.465 |
|
| 2008 |
Choudhary D, Jansson I, Sarfarazi M, Schenkman JB. Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma. Pharmacogenetics and Genomics. 18: 665-76. PMID 18622259 DOI: 10.1097/Fpc.0B013E3282Ff5A36 |
0.321 |
|
| 2008 |
Traboulsi EI, Sarfarazi M. The use of microarray technology in deciphering the cause of genetic eye diseases: LOXL1 and exfoliation syndrome. American Journal of Ophthalmology. 145: 391-3. PMID 18282488 DOI: 10.1016/J.Ajo.2007.12.002 |
0.302 |
|
| 2008 |
Rezaie T, Ghoroghchian R, Bell R, Brice G, Hasan A, Burnand K, Vernon S, Mansour S, Mortimer P, Jeffery S, Child A, Sarfarazi M. Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2. European Journal of Human Genetics : Ejhg. 16: 300-4. PMID 18197197 DOI: 10.1038/Sj.Ejhg.5201982 |
0.487 |
|
| 2007 |
Rezaie T, Karimi-Nejad MH, Meshkat MR, Sohbati S, Karimi-Nejad R, Najmabadi H, Sarfarazi M. Genetic screening of leber congenital amaurosis in a large consanguineous Iranian family. Ophthalmic Genetics. 28: 224-8. PMID 18161624 DOI: 10.1080/13816810701663550 |
0.54 |
|
| 2007 |
Chitsazian F, Tusi BK, Elahi E, Saroei HA, Sanati MH, Yazdani S, Pakravan M, Nilforooshan N, Eslami Y, Mehrjerdi MA, Zareei R, Jabbarvand M, Abdolahi A, Lasheyee AR, Etemadi A, ... ... Sarfarazi M, et al. CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes. The Journal of Molecular Diagnostics : Jmd. 9: 382-93. PMID 17591938 DOI: 10.2353/Jmoldx.2007.060157 |
0.392 |
|
| 2007 |
Suriyapperuma SP, Child A, Desai T, Brice G, Kerr A, Crick RP, Sarfarazi M. A new locus (GLC1H) for adult-onset primary open-angle glaucoma maps to the 2p15-p16 region. Archives of Ophthalmology (Chicago, Ill. : 1960). 125: 86-92. PMID 17210857 DOI: 10.1001/Archopht.125.1.86 |
0.419 |
|
| 2006 |
Hollander DA, Sarfarazi M, Stoilov I, Wood IS, Fredrick DR, Alvarado JA. Genotype and phenotype correlations in congenital glaucoma: CYP1B1 mutations, goniodysgenesis, and clinical characteristics. American Journal of Ophthalmology. 142: 993-1004. PMID 17157584 DOI: 10.1016/J.Ajo.2006.07.054 |
0.411 |
|
| 2006 |
Kramer PL, Samples JR, Monemi S, Sykes R, Sarfarazi M, Wirtz MK. The role of the WDR36 gene on chromosome 5q22.1 in a large family with primary open-angle glaucoma mapped to this region. Archives of Ophthalmology (Chicago, Ill. : 1960). 124: 1328-31. PMID 16966629 DOI: 10.1001/Archopht.124.9.1328 |
0.742 |
|
| 2006 |
Choudhary D, Jansson I, Sarfarazi M, Schenkman JB. Physiological significance and expression of P450s in the developing eye. Drug Metabolism Reviews. 38: 337-52. PMID 16684663 DOI: 10.1080/03602530600570149 |
0.312 |
|
| 2006 |
Brice G, Child AH, Evans A, Bell R, Mansour S, Burnand K, Sarfarazi M, Jeffery S, Mortimer P. Milroy disease and the VEGFR-3 mutation phenotype. Journal of Medical Genetics. 42: 98-102. PMID 15689446 DOI: 10.1136/Jmg.2004.024802 |
0.439 |
|
| 2005 |
Aung T, Rezaie T, Okada K, Viswanathan AC, Child AH, Brice G, Bhattacharya SS, Lehmann OJ, Sarfarazi M, Hitchings RA. Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene. Investigative Ophthalmology & Visual Science. 46: 2816-22. PMID 16043855 DOI: 10.1167/Iovs.04-1133 |
0.366 |
|
| 2005 |
Jansson M, Wadelius C, Rezaie T, Sarfarazi M. Analysis of rare variants and common haplotypes in the optineurin gene in Swedish glaucoma cases. Ophthalmic Genetics. 26: 85-9. PMID 16020311 DOI: 10.1080/13816810490967953 |
0.41 |
|
| 2005 |
Rezaie T, Waitzman DM, Seeman JL, Kaufman PL, Sarfarazi M. Molecular cloning and expression profiling of optineurin in the rhesus monkey. Investigative Ophthalmology & Visual Science. 46: 2404-10. PMID 15980228 DOI: 10.1167/Iovs.04-1243 |
0.36 |
|
| 2005 |
Sholto-Douglas-Vernon C, Bell R, Brice G, Mansour S, Sarfarazi M, Child AH, Smith A, Mellor R, Burnand K, Mortimer P, Jeffery S. Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations. Human Genetics. 117: 238-42. PMID 15906099 DOI: 10.1007/S00439-005-1275-2 |
0.446 |
|
| 2005 |
Choudhary D, Jansson I, Stoilov I, Sarfarazi M, Schenkman JB. Expression patterns of mouse and human CYP orthologs (families 1-4) during development and in different adult tissues. Archives of Biochemistry and Biophysics. 436: 50-61. PMID 15752708 DOI: 10.1016/J.Abb.2005.02.001 |
0.313 |
|
| 2005 |
Monemi S, Spaeth G, DaSilva A, Popinchalk S, Ilitchev E, Liebmann J, Ritch R, Héon E, Crick RP, Child A, Sarfarazi M. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Human Molecular Genetics. 14: 725-33. PMID 15677485 DOI: 10.1093/Hmg/Ddi068 |
0.74 |
|
| 2005 |
Rezaie T, Sarfarazi M. Molecular cloning, genomic structure, and protein characterization of mouse optineurin. Genomics. 85: 131-8. PMID 15607428 DOI: 10.1016/J.Ygeno.2004.10.011 |
0.396 |
|
| 2004 |
Willoughby CE, Chan LL, Herd S, Billingsley G, Noordeh N, Levin AV, Buys Y, Trope G, Sarfarazi M, Héon E. Defining the pathogenicity of optineurin in juvenile open-angle glaucoma. Investigative Ophthalmology & Visual Science. 45: 3122-30. PMID 15326130 DOI: 10.1167/Iovs.04-0107 |
0.314 |
|
| 2003 |
Sarfarazi M, Stoilov I, Schenkman JB. Genetics and biochemistry of primary congenital glaucoma. Ophthalmology Clinics of North America. 16: 543-54, vi. PMID 14740995 DOI: 10.1016/S0896-1549(03)00062-2 |
0.452 |
|
| 2003 |
Sarfarazi M, Rezaie T. Optineurin in primary open angle glaucoma. Ophthalmology Clinics of North America. 16: 529-41. PMID 14740994 DOI: 10.1016/S0896-1549(03)00061-0 |
0.467 |
|
| 2003 |
Evans AL, Bell R, Brice G, Comeglio P, Lipede C, Jeffery S, Mortimer P, Sarfarazi M, Child AH. Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema. Journal of Medical Genetics. 40: 697-703. PMID 12960217 DOI: 10.1136/Jmg.40.9.697 |
0.507 |
|
| 2003 |
Choudhary D, Jansson I, Schenkman JB, Sarfarazi M, Stoilov I. Comparative expression profiling of 40 mouse cytochrome P450 genes in embryonic and adult tissues Archives of Biochemistry and Biophysics. 414: 91-100. PMID 12745259 DOI: 10.1016/S0003-9861(03)00174-7 |
0.317 |
|
| 2002 |
Brice G, Mansour S, Bell R, Collin JR, Child AH, Brady AF, Sarfarazi M, Burnand KG, Jeffery S, Mortimer P, Murday VA. Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. Journal of Medical Genetics. 39: 478-83. PMID 12114478 DOI: 10.1136/Jmg.39.7.478 |
0.427 |
|
| 2002 |
Stoilov IR, Costa VP, Vasconcellos JP, Melo MB, Betinjane AJ, Carani JC, Oltrogge EV, Sarfarazi M. Molecular genetics of primary congenital glaucoma in Brazil. Investigative Ophthalmology & Visual Science. 43: 1820-7. PMID 12036985 |
0.314 |
|
| 2002 |
Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Héon E, Krupin T, Ritch R, Kreutzer D, Crick RP, Sarfarazi M. Adult-onset primary open-angle glaucoma caused by mutations in optineurin Science. 295: 1077-1079. PMID 11834836 DOI: 10.1126/Science.1066901 |
0.473 |
|
| 2002 |
Jansson I, Stoilov I, Sarfarazi M, Schenkman JB. Effect of two mutations of human CYP1B1, G61E and R469W, on stability and endogenous steroid substrate metabolism. Pharmacogenetics. 11: 793-801. PMID 11740343 DOI: 10.1097/00008571-200112000-00007 |
0.369 |
|
| 2000 |
Sarfarazi M, Stoilov I. Molecular genetics of primary congenital glaucoma. Eye (London, England). 422-8. PMID 11026969 DOI: 10.1038/Eye.2000.126 |
0.4 |
|
| 2000 |
Ferda Percin E, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AM, Kalnins VI, Kocak-Altintas A, Sowden JC, Traboulsi E, Sarfarazi M, McInnes RR. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nature Genetics. 25: 397-401. PMID 10932181 DOI: 10.1038/78071 |
0.528 |
|
| 2000 |
Malchoff CD, Sarfarazi M, Tendler B, Forouhar F, Whalen G, Joshi V, Arnold A, Malchoff DM. Papillary thyroid carcinoma associated with papillary renal neoplasia: genetic linkage analysis of a distinct heritable tumor syndrome. The Journal of Clinical Endocrinology and Metabolism. 85: 1758-64. PMID 10843148 DOI: 10.1210/Jcem.85.5.6557 |
0.479 |
|
| 2000 |
Sotirova VN, Rezaie T, Khoshsorour M, Sarfarazi M. Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with Waardenburg syndrome Type I Ophthalmic Genetics. 21: 25-28. DOI: 10.1076/1381-6810(200003)21:1;1-I;Ft025 |
0.509 |
|
| 1999 |
Mangion J, Rahman N, Mansour S, Brice G, Rosbotham J, Child AH, Murday VA, Mortimer PS, Barfoot R, Sigurdsson A, Edkins S, Sarfarazi M, Burnand K, Evans AL, Nunan TO, et al. A gene for lymphedema-distichiasis maps to 16q24.3. American Journal of Human Genetics. 65: 427-32. PMID 10417285 DOI: 10.1086/302500 |
0.533 |
|
| 1999 |
Huang W, Escribano J, Sarfarazi M, Coca-Prados M. 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. Gene. 233: 233-40. PMID 10375640 DOI: 10.1016/S0378-1119(99)00131-6 |
0.392 |
|
| 1999 |
Malchoff CD, Sarfarazi M, Tendler B, Forouhar F, Whalen G, Malchoff DM. Familial papillary thyroid carcinoma is genetically distinct from familial adenomatous polyposis coli. Thyroid : Official Journal of the American Thyroid Association. 9: 247-52. PMID 10211600 DOI: 10.1089/Thy.1999.9.247 |
0.503 |
|
| 1999 |
Evans AL, Brice G, Sotirova V, Mortimer P, Beninson J, Burnand K, Rosbotham J, Child A, Sarfarazi M. Mapping of primary congenital lymphedema to the 5q35.3 region. American Journal of Human Genetics. 64: 547-55. PMID 9973292 DOI: 10.1086/302248 |
0.564 |
|
| 1999 |
Stoilova D, Child A, Brice G, Desai T, Barsoum-Homsy M, Ozdemir N, Chevrette L, Adam MF, Garchon HJ, Pitts Crick R, Sarfarazi M. Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma. Journal of Medical Genetics. 35: 989-92. PMID 9863594 DOI: 10.1136/Jmg.35.12.989 |
0.533 |
|
| 1999 |
Plášilová M, Stoilov I, Sarfarazi M, Kádasi L, Feráková E, Ferák V. Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma Journal of Medical Genetics. 36: 290-294. DOI: 10.1136/Jmg.36.4.290 |
0.468 |
|
| 1998 |
Trifan OC, Traboulsi EI, Stoilova D, Alozie I, Nguyen R, Raja S, Sarfarazi M. A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region. American Journal of Ophthalmology. 126: 17-28. PMID 9683145 DOI: 10.1016/S0002-9394(98)00073-7 |
0.477 |
|
| 1998 |
Sarfarazi M, Child A, Stoilova D, Brice G, Desai T, Trifan OC, Poinoosawmy D, Crick RP. Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region. American Journal of Human Genetics. 62: 641-52. PMID 9497264 DOI: 10.1086/301767 |
0.51 |
|
| 1998 |
Stoilov I, Akarsu AN, Alozie I, Child A, Barsoum-Homsy M, Turacli ME, Or M, Lewis RA, Ozdemir N, Brice G, Aktan SG, Chevrette L, Coca-Prados M, Sarfarazi M. 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. American Journal of Human Genetics. 62: 573-84. PMID 9497261 DOI: 10.1086/301764 |
0.506 |
|
| 1997 |
Stoilova D, Child A, Brice G, Crick RP, Fleck BW, Sarfarazi M. Identification of a new 'TIGR' mutation in a family with juvenile-onset primary open angle glaucoma. Ophthalmic Genetics. 18: 109-18. PMID 9361308 DOI: 10.3109/13816819709057124 |
0.449 |
|
| 1997 |
Sarfarazi M. Recent advances in molecular genetics of glaucomas. Human Molecular Genetics. 6: 1667-77. PMID 9300658 DOI: 10.1093/Hmg/6.10.1667 |
0.472 |
|
| 1997 |
Akarsu AN, Saatci U, Ozen S, Bakkaloglu A, Besbas N, Sarfarazi M. Genetic linkage study of familial Mediterranean fever (FMF) to 16p13.3 and evidence for genetic heterogeneity in the Turkish population. Journal of Medical Genetics. 34: 573-8. PMID 9222966 DOI: 10.1136/Jmg.34.7.573 |
0.515 |
|
| 1997 |
Stoilova D, Child A, Desai SP, Sarfarazi M. Refinement of the locus for autosomal dominant juvenile optic atrophy to a 2 cM region on 3q28. Ophthalmic Genetics. 18: 1-6. PMID 9134544 DOI: 10.3109/13816819709057877 |
0.508 |
|
| 1997 |
DiMario FJ, Sarfarazi M. Family pedigree analysis of children with severe breath-holding spells. The Journal of Pediatrics. 130: 647-51. PMID 9108865 DOI: 10.1016/S0022-3476(97)70251-8 |
0.385 |
|
| 1997 |
Stoilov I, Akarsu AN, Sarfarazi M. 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. Human Molecular Genetics. 6: 641-7. PMID 9097971 DOI: 10.1093/Hmg/6.4.641 |
0.553 |
|
| 1997 |
Akarsu AN, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, Sayli BS, Sarfarazi M. A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. Human Molecular Genetics. 5: 1199-203. PMID 8842741 DOI: 10.1093/Hmg/5.8.1199 |
0.563 |
|
| 1997 |
Akarsu AN, Stoilov I, Yilmaz E, Sayli BS, Sarfarazi M. Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. Human Molecular Genetics. 5: 945-52. PMID 8817328 DOI: 10.1093/Hmg/5.7.945 |
0.512 |
|
| 1996 |
Stoilova D, Child A, Trifan OC, Crick RP, Coakes RL, Sarfarazi M. Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region. Genomics. 36: 142-50. PMID 8812425 DOI: 10.1006/geno.1996.0434 |
0.444 |
|
| 1996 |
Akarsu AN, Turacli ME, Aktan SG, Hossain A, Barsoum-Homsy M, Chevrette L, Sayli BS, Sarfarazi M. Exclusion of primary congenital glaucoma (buphthalmos) from two candidate regions of chromosome arm 6p and chromosome 11. American Journal of Medical Genetics. 61: 290-2. PMID 8741877 DOI: 10.1002/(Sici)1096-8628(19960122)61:3<290::Aid-Ajmg16>3.0.Co;2-O |
0.511 |
|
| 1996 |
Sarfarazi M, Akarsu AN, Hossain A, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, Sayli BS. Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics. 30: 171-7. PMID 8586416 DOI: 10.1006/Geno.1995.9888 |
0.558 |
|
| 1995 |
Akarsu AN, Akhan O, Sayli BS, Sayli U, Baskaya G, Sarfarazi M. A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype? Journal of Medical Genetics. 32: 435-41. PMID 7666394 DOI: 10.1136/Jmg.32.6.435 |
0.384 |
|
| 1995 |
Sayli BS, Akarsu AN, Sayli U, Akhan O, Ceylaner S, Sarfarazi M. A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data. Journal of Medical Genetics. 32: 421-34. PMID 7666393 DOI: 10.1136/Jmg.32.6.421 |
0.402 |
|
| 1995 |
Sarfarazi M, Akarsu AN, Sayli BS. Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker. Human Molecular Genetics. 4: 1453-8. PMID 7581388 DOI: 10.1093/Hmg/4.8.1453 |
0.466 |
|
| 1993 |
Upadhyaya M, Jardine P, Maynard J, Farnham J, Sarfarazi M, Wijmenga C, Hewitt JE, Frants R, Harper PS, Lunt PW. Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements. Human Molecular Genetics. 2: 981-7. PMID 8364581 DOI: 10.1093/Hmg/2.7.981 |
0.516 |
|
| 1993 |
Velinov M, Sarfarazi M, Young K, Hodes ME, Conneally PM, Jackson CE, Tsipouras P. Limb-girdle muscular dystrophy is closely linked to the fibrillin locus on chromosome 15. Connective Tissue Research. 29: 13-21. PMID 8339542 DOI: 10.3109/03008209309061962 |
0.514 |
|
| 1992 |
Sarfarazi M, Tsipouras P, Del Mastro R, Kilpatrick M, Farndon P, Boxer M, Bridges A, Boileau C, Junien C, Hayward C. A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study. Journal of Medical Genetics. 29: 75-80. PMID 1613769 DOI: 10.1136/Jmg.29.2.75 |
0.516 |
|
| 1992 |
Tsipouras P, Del Mastro R, Sarfarazi M, Lee B, Vitale E, Child AH, Godfrey M, Devereux RB, Hewett D, Steinmann B, Viljoen D, Sykes BC, Kilpatrick M, Ramirez F, Farndon PA, et al. Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5 New England Journal of Medicine. 326: 905-909. PMID 1542340 DOI: 10.1056/Nejm199204023261401 |
0.534 |
|
| 1992 |
Bowcock AM, Barnes RI, White RL, Kruse TA, Tsipouras P, Sarfarazi M, Jenkins T, Viljoen C, Litt M, Kramer PL. The CEPH consortium linkage map of human chromosome 15q. Genomics. 14: 833-40. PMID 1478662 DOI: 10.1016/S0888-7543(05)80101-6 |
0.354 |
|
| 1991 |
Tsipouras P, Sarfarazi M, Devi A, Weiffenbach B, Boxer M. Marfan syndrome is closely linked to a marker on chromosome 15q1.5----q2.1. Proceedings of the National Academy of Sciences of the United States of America. 88: 4486-8. PMID 2034688 DOI: 10.1073/Pnas.88.10.4486 |
0.429 |
|
| 1991 |
Upadhyaya M, Lunt PW, Sarfarazi M, Broadhead W, Daniels J, Owen M, Harper PS. A closely linked DNA marker for facioscapulohumeral disease on chromosome 4q. Journal of Medical Genetics. 28: 665-71. PMID 1941963 DOI: 10.1136/Jmg.28.10.665 |
0.51 |
|
| 1991 |
Lee B, Godfrey M, Vitale E, Hori H, Mattei MG, Sarfarazi M, Tsipouras P, Ramirez F, Hollister DW. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature. 352: 330-4. PMID 1852206 DOI: 10.1038/352330A0 |
0.525 |
|
| 1991 |
Allanson JE, Upadhyaya M, Watson GH, Partington M, MacKenzie A, Lahey D, MacLeod H, Sarfarazi M, Broadhead W, Harper PS. Watson syndrome: is it a subtype of type 1 neurofibromatosis? Journal of Medical Genetics. 28: 752-6. PMID 1770531 DOI: 10.1136/Jmg.28.11.752 |
0.467 |
|
| 1990 |
Blanton SH, Sarfarazi M, Eiberg H, de Groote J, Farndon PA, Kilpatrick MW, Child AH, Pope FM, Peltonen L, Francomano CA. An exclusion map of Marfan syndrome. Journal of Medical Genetics. 27: 73-7. PMID 2319588 DOI: 10.1136/Jmg.27.2.73 |
0.441 |
|
| 1990 |
Walsh KV, Harley HG, Brook JD, Rundle SA, Sarfarazi M, Harper PS, Shaw DJ. Linkage relationships of the apolipoprotein C1 gene and a cytochrome P450 gene (CYP2A) to myotonic dystrophy. Human Genetics. 85: 305-10. PMID 1975560 DOI: 10.1007/BF00206751 |
0.313 |
|
| 1990 |
Schwartz RC, Blanton SH, Hyde CA, Sottile TR, Hudgins L, Sarfarazi M, Tsipouras P. Linkage analysis in Marfan syndrome. Journal of Medical Genetics. 27: 86-90. PMID 1969490 DOI: 10.1136/Jmg.27.2.86 |
0.431 |
|
| 1989 |
Koch M, Harley H, Grimm T, Sarfarazi M, Müller B, Zoll B, Harper PS. Paramyotonia congenita and myotonic dystrophy are not allelic disorders. Cytogenetics and Cell Genetics. 50: 176-7. PMID 2776487 DOI: 10.1159/000132755 |
0.423 |
|
| 1989 |
Sarfarazi M, Upadhyaya M, Padberg G, Pericak-Vance M, Siddique T, Lucotte G, Lunt P. An exclusion map for facioscapulohumeral (Landouzy-Déjérine) disease. Journal of Medical Genetics. 26: 481-4. PMID 2769720 DOI: 10.1136/Jmg.26.8.481 |
0.5 |
|
| 1989 |
Koch M, Harley H, Sarfarazi M, Bender K, Wienker T, Zoll B, Harper PS. Myotonia congenita (Thomsen's disease) excluded from the region of the myotonic dystrophy locus on chromosome 19 Human Genetics. 82: 163-166. PMID 2722193 DOI: 10.1007/Bf00284051 |
0.519 |
|
| 1989 |
Youngman S, Sarfarazi M, Bucan M, MacDonald M, Smith B, Zimmer M, Gilliam C, Frischauf AM, Wasmuth JJ, Gusella JF, Lehrach H, Harper PS, Shaw DJ. A new DNA marker (D4S90) is located terminally on the short arm of chromosome 4, close to the Huntington disease gene Genomics. 5: 802-809. PMID 2574148 DOI: 10.1016/0888-7543(89)90122-5 |
0.504 |
|
| 1989 |
Upadhyaya M, Sarfarazi M, Lunt PW, Broadhead W, Harper PS. A genetic linkage study of facioscapulohumeral (Landouzy- Déjérine) disease with 24 polymorphic DNA probes Journal of Medical Genetics. 26: 490-493. PMID 2570156 DOI: 10.1136/Jmg.26.8.490 |
0.448 |
|
| 1989 |
Zonana J, Sarfarazi M, Thomas NS, Clarke A, Marymee K, Harper PS. Improved definition of carrier status in X-linked hypohidrotic ectodermal dysplasia by use of restriction fragment length polymorphism-based linkage analysis. The Journal of Pediatrics. 114: 392-9. PMID 2564048 DOI: 10.1016/S0022-3476(89)80556-6 |
0.38 |
|
| 1989 |
Roberts SH, Upadhyaya M, Sarfarazi M, Sharper P. Further evidence localising the gene for Hunter's syndrome to the distal region of the X chromosome long arm Journal of Medical Genetics. 26: 309-313. PMID 2499679 DOI: 10.1136/Jmg.26.5.309 |
0.442 |
|
| 1988 |
Lunt PW, Noades JG, Upadhyaya M, Sarfarazi M, Harper PS. Evidence against location of the gene for facioscapulohumeral muscular dystrophy on the distal long arm of chromosome 14 Journal of the Neurological Sciences. 88: 287-292. PMID 3225626 DOI: 10.1016/0022-510X(88)90225-0 |
0.47 |
|
| 1988 |
Harley HG, Brook JD, Jackson CL, Glaser T, Walsh KV, Sarfarazi M, Kent R, Lager M, Koch M, Harper PS. Localization of a human Na+,K+-ATPase alpha subunit gene to chromosome 19q12----q13.2 and linkage to the myotonic dystrophy locus. Genomics. 3: 380-4. PMID 2907504 DOI: 10.1016/0888-7543(88)90131-0 |
0.423 |
|
| 1988 |
Quarrell OWJ, Youngman S, Sarfarazi M, Harper PS. Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8) Journal of Medical Genetics. 25: 191-194. PMID 2895189 DOI: 10.1136/Jmg.25.3.191 |
0.466 |
|
| 1987 |
Upadhyaya M, Sarfarazi M, Huson SM, Harper PS. Further exclusion data for the Von Recklinghausen neurofibromatosis gene: A genetic linkage study of 19 polymorphic markers Journal of Medical Genetics. 24: 534-536. PMID 3118035 DOI: 10.1136/Jmg.24.9.534 |
0.518 |
|
| 1987 |
Sarfarazi M, Huson SM, Edwards JH. An exclusion map for Von Recklinghausen neurofibromatosis. Journal of Medical Genetics. 24: 515-20. PMID 3118026 DOI: 10.1136/Jmg.24.9.515 |
0.466 |
|
| 1987 |
Upadhyaya M, Sarfarazi M, Huson SM, Stephens K, Broadhead W, Harper PS. Chromosome 17 markers and von Recklinghausen neurofibromatosis: A genetic linkage study in a British population Genomics. 1: 358-360. PMID 2896630 DOI: 10.1016/0888-7543(87)90038-3 |
0.447 |
|
| 1987 |
Clarke A, Sarfarazi M, Thomas NS, Roberts K, Harper PS. X-linked hypohidrotic ectodermal dysplasia: DNA probe linkage analysis and gene localization. Human Genetics. 75: 378-80. PMID 2883107 DOI: 10.1007/Bf00284112 |
0.496 |
|
| 1987 |
Sarfarazi M. Report on genetic linkage analysis between Huntington's disease and the G8 DNA polymorphism. Genetic Epidemiology. Supplement. 1: 259-64. PMID 2883084 DOI: 10.1002/Gepi.1370030740 |
0.336 |
|
| 1987 |
Upadhyaya M, Sarfarazi M, Bamforth JS, Thomas NS, Oberle I, Young I, Harper PS. Localisation of the gene for Hunter syndrome on the long arm of X chromosome. Human Genetics. 74: 391-8. PMID 2878868 DOI: 10.1007/Bf00280492 |
0.447 |
|
| 1986 |
Sarfarazi M, Williams H. A computer programme for estimation of genetic risk in X linked disorders, combining pedigree and DNA probe data with other conditional information. Journal of Medical Genetics. 23: 40-5. PMID 3754009 DOI: 10.1136/Jmg.23.1.40 |
0.376 |
|
| 1986 |
Williams H, Sarfarazi M, Brown C, Thomas N, Harper PS. The use of flanking markers in prediction for Duchenne muscular dystrophy. Archives of Disease in Childhood. 61: 218-22. PMID 3457554 DOI: 10.1136/Adc.61.3.218 |
0.408 |
|
| 1986 |
Huson SM, Meredith AL, Sarfarazi M, Shaw DJ, Brook D, Compston DA, Harper PS. Evidence against linkage of von Recklinghausen neurofibromatosis and chromosome 19 markers. Annals of the New York Academy of Sciences. 486: 349-53. PMID 3105398 DOI: 10.1111/J.1749-6632.1986.Tb48088.X |
0.51 |
|
| 1986 |
Thomas NS, Williams H, Elsas LJ, Hopkins LC, Sarfarazi M, Harper PS. Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome. Journal of Medical Genetics. 23: 596-8. PMID 3100805 DOI: 10.1136/Jmg.23.6.596 |
0.491 |
|
| 1986 |
Huson SM, Meredith AL, Sarfarazi M, Shaw DJ, Compston DA, Harper PS. Linkage analysis of peripheral neurofibromatosis (Von Recklinghausen disease) and chromosome 19 markers linked to myotonic dystrophy. Journal of Medical Genetics. 23: 55-7. PMID 3081725 DOI: 10.1136/Jmg.23.1.55 |
0.54 |
|
| 1986 |
Shaw DJ, Brook JD, Meredith AL, Harley HG, Sarfarazi M, Harper PS. Gene mapping and chromosome 19. Journal of Medical Genetics. 23: 2-10. PMID 3081724 DOI: 10.1136/Jmg.23.1.2 |
0.51 |
|
| 1986 |
Youngman S, Sarfarazi M, Quarrell OWJ, Conneally PM, Gibbons K, Harper PS, Shaw DJ, Tanzi RE, Wallace MR, Gusella JF. Studies of a DNA marker (G8) genetically linked to Huntington disease in British families Human Genetics. 73: 333-339. PMID 3017842 DOI: 10.1007/Bf00279096 |
0.442 |
|
| 1986 |
Meredith AL, Huson SM, Lunt PW, Sarfarazi M, Harley HG, Brook JD, Shaw DJ, Harper PS. Application of a closely linked polymorphism of restriction fragment length to counselling and prenatal testing in families with myotonic dystrophy. British Medical Journal (Clinical Research Ed.). 293: 1353-6. PMID 2878705 DOI: 10.1136/Bmj.293.6558.1353 |
0.435 |
|
| 1986 |
Shaw DJ, Meredith AL, Sarfarazi M, Harley HG, Huson SM, Brook JD, Bufton L, Litt M, Mohandas T, Harper PS. Regional localisations and linkage relationships of seven RFLPs and myotonic dystrophy on chromosome 19. Human Genetics. 74: 262-6. PMID 2877933 DOI: 10.1007/Bf00282545 |
0.47 |
|
| 1985 |
Kingston HM, Sarfarazi M, Newcombe RG, Willis N, Harper PS. Carrier detection in Becker muscular dystrophy using creatine kinase estimation and DNA analysis. Clinical Genetics. 27: 383-91. PMID 3995787 DOI: 10.1111/J.1399-0004.1985.Tb02280.X |
0.359 |
|
| 1985 |
Harper PS, Sarfarazi M. Genetic prediction and family structure in Huntington's chorea. British Medical Journal (Clinical Research Ed.). 290: 1929-31. PMID 3159461 DOI: 10.1136/Bmj.290.6486.1929 |
0.386 |
|
| 1985 |
Harper PS, Youngman S, Anderson MA, Sarfarazi M, Quarrell O, Tanzi R, Shaw D, Wallace P, Conneally PM, Gusella JF. Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families Journal of Medical Genetics. 22: 447-450. PMID 3001311 DOI: 10.1136/Jmg.22.6.447 |
0.411 |
|
| 1985 |
Brown CS, Thomas NS, Sarfarazi M, Davies KE, Kunkel L, Pearson PL, Kingston HM, Shaw DJ, Harper PS. Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy. Human Genetics. 71: 62-74. PMID 2993158 DOI: 10.1007/Bf00295671 |
0.469 |
|
| 1985 |
Shaw DJ, Meredith AL, Sarfarazi M, Huson SM, Brook JD, Myklebost O, Harper PS. The apolipoprotein CII gene: subchromosomal localisation and linkage to the myotonic dystrophy locus. Human Genetics. 70: 271-3. PMID 2991117 DOI: 10.1007/Bf00273455 |
0.517 |
|
| 1985 |
Brown CS, Pearson PL, Thomas NS, Sarfarazi M, Harper PS, Shaw DJ. Linkage analysis of a DNA polymorphism proximal to the Duchenne and Becker muscular dystrophy loci on the short arm of the X chromosome. Journal of Medical Genetics. 22: 179-81. PMID 2989525 DOI: 10.1136/Jmg.22.3.179 |
0.45 |
|
| 1984 |
Kingston HM, Sarfarazi M, Thomas NS, Harper PS. Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences. Human Genetics. 67: 6-17. PMID 6086495 DOI: 10.1007/Bf00270551 |
0.465 |
|
| 1983 |
O'Brien T, Ball S, Sarfarazi M, Harper PS, Robson EB. Genetic linkage between the loci for myotonic dystrophy and peptidase D. Annals of Human Genetics. 47: 117-21. PMID 6881909 DOI: 10.1111/J.1469-1809.1983.Tb00978.X |
0.314 |
|
| 1983 |
O'Brien T, Harper PS, Davies KE, Murray JM, Sarfarazi M, Williamson R. Absence of genetic heterogeneity in Duchenne muscular dystrophy shown by a linkage study using two cloned DNA sequences. Journal of Medical Genetics. 20: 249-51. PMID 6684692 DOI: 10.1136/Jmg.20.4.249 |
0.391 |
|
| 1983 |
Davies KE, Jackson J, Williamson R, Harper PS, Ball S, Sarfarazi M, Meredith L, Fey G. Linkage analysis of myotonic dystrophy and sequences on chromosome 19 using a cloned complement 3 gene probe. Journal of Medical Genetics. 20: 259-63. PMID 6620325 DOI: 10.1136/Jmg.20.4.259 |
0.463 |
|
| 1983 |
Kingston HM, Thomas NS, Pearson PL, Sarfarazi M, Harper PS. Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome. Journal of Medical Genetics. 20: 255-8. PMID 6620324 DOI: 10.1136/Jmg.20.4.255 |
0.477 |
|
| 1983 |
Sarfarazi M, Harper PS, Kingston HM, Murray JM, O'Brien T, Davies KE, Williamson R, Tippett P, Sanger R. Genetic linkage relationship between the Xg blood group system and two X chromosome DNA polymorphisms in families with Duchenne and Becker muscular dystrophy. Human Genetics. 65: 169-71. PMID 6317539 DOI: 10.1007/Bf00286656 |
0.462 |
|
| 1983 |
Davies KE, Pearson PL, Harper PS, Murray JM, O'Brien T, Sarfarazi M, Williamson R. Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. Nucleic Acids Research. 11: 2303-12. PMID 6304647 DOI: 10.1093/Nar/11.8.2303 |
0.475 |
|
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