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Items: 5

1.

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.

Spurdle AB, Whiley PJ, Thompson B, Feng B, Healey S, Brown MA, Pettigrew C; kConFab., Van Asperen CJ, Ausems MG, Kattentidt-Mouravieva AA, van den Ouweland AM; Dutch Belgium UV Consortium., Lindblom A, Pigg MH, Schmutzler RK, Engel C, Meindl A; German Consortium of Hereditary Breast and Ovarian Cancer., Caputo S, Sinilnikova OM, Lidereau R; French COVAR group collaborators., Couch FJ, Guidugli L, Hansen Tv, Thomassen M, Eccles DM, Tucker K, Benitez J, Domchek SM, Toland AE, Van Rensburg EJ, Wappenschmidt B, Borg Å, Vreeswijk MP, Goldgar DE; ENIGMA Consortium..

J Med Genet. 2012 Aug;49(8):525-32.

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Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome.

Cooper WN, Luharia A, Evans GA, Raza H, Haire AC, Grundy R, Bowdin SC, Riccio A, Sebastio G, Bliek J, Schofield PN, Reik W, Macdonald F, Maher ER.

Eur J Hum Genet. 2005 Sep;13(9):1025-32.

4.

Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive potassium channels.

Hussain K, Cosgrove KE, Shepherd RM, Luharia A, Smith VV, Kassem S, Gregory JW, Sivaprasadarao A, Christesen HT, Jacobsen BB, Brusgaard K, Glaser B, Maher EA, Lindley KJ, Hindmarsh P, Dattani M, Dunne MJ.

J Clin Endocrinol Metab. 2005 Jul;90(7):4376-82. Epub 2005 Apr 5.

PMID:
15811927
5.

Beckwith-Wiedemann syndrome and assisted reproduction technology (ART).

Maher ER, Brueton LA, Bowdin SC, Luharia A, Cooper W, Cole TR, Macdonald F, Sampson JR, Barratt CL, Reik W, Hawkins MM.

J Med Genet. 2003 Jan;40(1):62-4. No abstract available. Erratum in: J Med Genet. 2003 Apr;40(4):304.

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