Murday VA - Search Results

1

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

2

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.

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

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.

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

Reduction of the genetic interval for lyphoedema-distichiasis to below 2 Mb.

Bell R, Brice G, Child AH, Murday VA, Mansour S, Sandy CJ, Collin JR, Mortimer P, Callen DF, Burnand K. Bell R, et al. Among authors: murday va. J Med Genet. 2000 Sep;37(9):725. doi: 10.1136/jmg.37.9.725. J Med Genet. 2000. PMID: 11182939 Free PMC article. No abstract available.

7

Germline mutations in RAD51D confer susceptibility to ovarian cancer.

Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR, Bowden G, Kalmyrzaev B, Warren-Perry M, Snape K, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L; Breast Cancer Susceptibility Collaboration (UK); Eccles D, Evans DG, Renwick A, Seal S, Lord CJ, Ashworth A, Reis-Filho JS, Antoniou AC, Rahman N. Loveday C, et al. Nat Genet. 2011 Aug 7;43(9):879-882. doi: 10.1038/ng.893. Nat Genet. 2011. PMID: 21822267 Free PMC article.

8

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R; Childhood Overgrowth Collaboration; Rahman N. Loveday C, et al. Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182. Epub 2015 May 13. Hum Mol Genet. 2015. PMID: 25972378 Free PMC article.

9

The mutational spectrum in Waardenburg syndrome.

Tassabehji M, Newton VE, Liu XZ, Brady A, Donnai D, Krajewska-Walasek M, Murday V, Norman A, Obersztyn E, Reardon W, et al. Tassabehji M, et al. Hum Mol Genet. 1995 Nov;4(11):2131-7. doi: 10.1093/hmg/4.11.2131. Hum Mol Genet. 1995. PMID: 8589691

10

Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases.

Mansour S, Connell F, Steward C, Ostergaard P, Brice G, Smithson S, Lunt P, Jeffery S, Dokal I, Vulliamy T, Gibson B, Hodgson S, Cottrell S, Kiely L, Tinworth L, Kalidas K, Mufti G, Cornish J, Keenan R, Mortimer P, Murday V; Lymphoedema Research Consortium. Mansour S, et al. Am J Med Genet A. 2010 Sep;152A(9):2287-96. doi: 10.1002/ajmg.a.33445. Am J Med Genet A. 2010. PMID: 20803646

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