Murday VA - Search Results

1

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

Afzal AR, Rajab A, Fenske CD, Oldridge M, Elanko N, Ternes-Pereira E, Tüysüz B, Murday VA, Patton MA, Wilkie AO, Jeffery S. Afzal AR, et al. Among authors: murday va. Nat Genet. 2000 Aug;25(4):419-22. doi: 10.1038/78107. Nat Genet. 2000. PMID: 10932186

2

Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22.

Afzal AR, Rajab A, Fenske C, Crosby A, Lahiri N, Ternes-Pereira E, Murday VA, Houlston R, Patton MA, Jeffery S. Afzal AR, et al. Among authors: murday va. Hum Genet. 2000 Mar;106(3):351-4. doi: 10.1007/s004390051049. Hum Genet. 2000. PMID: 10798366

3

Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2.

Bell R, Murday VA, Patton MA, Jeffery S. Bell R, et al. Among authors: murday va. Genet Test. 2001 Winter;5(4):335-8. doi: 10.1089/109065701753617499. Genet Test. 2001. PMID: 11960581

4

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

Simpson MA, Hsu R, Keir LS, Hao J, Sivapalan G, Ernst LM, Zackai EH, Al-Gazali LI, Hulskamp G, Kingston HM, Prescott TE, Ion A, Patton MA, Murday V, George A, Crosby AH. Simpson MA, et al. Am J Hum Genet. 2007 Nov;81(5):906-12. doi: 10.1086/522240. Epub 2007 Sep 14. Am J Hum Genet. 2007. PMID: 17924334 Free PMC article.

5

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).

Ostergaard P, Simpson MA, Connell FC, Steward CG, Brice G, Woollard WJ, Dafou D, Kilo T, Smithson S, Lunt P, Murday VA, Hodgson S, Keenan R, Pilz DT, Martinez-Corral I, Makinen T, Mortimer PS, Jeffery S, Trembath RC, Mansour S. Ostergaard P, et al. Among authors: murday va. Nat Genet. 2011 Sep 4;43(10):929-31. doi: 10.1038/ng.923. Nat Genet. 2011. PMID: 21892158

6

Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene.

Bell R, Brice G, Child AH, Murday VA, Mansour S, Sandy CJ, Collin JR, Brady AF, Callen DF, Burnand K, Mortimer P, Jeffery S. Bell R, et al. Among authors: murday va. Hum Genet. 2001 Jun;108(6):546-51. doi: 10.1007/s004390100528. Hum Genet. 2001. PMID: 11499682

7

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

Brice G, Mansour S, Bell R, Collin JR, Child AH, Brady AF, Sarfarazi M, Burnand KG, Jeffery S, Mortimer P, Murday VA. Brice G, et al. Among authors: murday va. J Med Genet. 2002 Jul;39(7):478-83. doi: 10.1136/jmg.39.7.478. J Med Genet. 2002. PMID: 12114478 Free PMC article.

8

A gene for lymphedema-distichiasis maps to 16q24.3.

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, Stratton MR, Jeffery S. Mangion J, et al. Among authors: murday va. Am J Hum Genet. 1999 Aug;65(2):427-32. doi: 10.1086/302500. Am J Hum Genet. 1999. PMID: 10417285 Free PMC article.

9

Three novel mutations of the proto-oncogene KIT cause human piebaldism.

Syrris P, Malik NM, Murday VA, Patton MA, Carter ND, Hughes HE, Metcalfe K. Syrris P, et al. Among authors: murday va. Am J Med Genet. 2000 Nov 6;95(1):79-81. doi: 10.1002/1096-8628(20001106)95:1<79::aid-ajmg16>3.0.co;2-4. Am J Med Genet. 2000. PMID: 11074500 No abstract available.

10

A new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: second report with further clinical delineation.

Gupta A, Hall CM, Ransley YF, Murday VA. Gupta A, et al. Among authors: murday va. J Med Genet. 1995 Oct;32(10):809-12. doi: 10.1136/jmg.32.10.809. J Med Genet. 1995. PMID: 8558561 Free PMC article.

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