Philippe Stanier to Abnormalities, Multiple
This is a "connection" page, showing publications Philippe Stanier has written about Abnormalities, Multiple.
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0.599
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Pauws E, Hoshino A, Bentley L, Prajapati S, Keller C, Hammond P, Martinez-Barbera JP, Moore GE, Stanier P. Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes. Hum Mol Genet. 2009 Nov 01; 18(21):4171-9.
Score: 0.321
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Sousa SB, Jenkins D, Chanudet E, Tasseva G, Ishida M, Anderson G, Docker J, Ryten M, Sa J, Saraiva JM, Barnicoat A, Scott R, Calder A, Wattanasirichaigoon D, Chrzanowska K, Simandlov? M, Van Maldergem L, Stanier P, Beales PL, Vance JE, Moore GE. Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. Nat Genet. 2014 Jan; 46(1):70-6.
Score: 0.108
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Rooryck C, Diaz-Font A, Osborn DP, Chabchoub E, Hernandez-Hernandez V, Shamseldin H, Kenny J, Waters A, Jenkins D, Kaissi AA, Leal GF, Dallapiccola B, Carnevale F, Bitner-Glindzicz M, Lees M, Hennekam R, Stanier P, Burns AJ, Peeters H, Alkuraya FS, Beales PL. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat Genet. 2011 Mar; 43(3):197-203.
Score: 0.089
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Monk D, Bentley L, Hitchins M, Myler RA, Clayton-Smith J, Ismail S, Price SM, Preece MA, Stanier P, Moore GE. Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region. Hum Genet. 2002 Oct; 111(4-5):376-87.
Score: 0.049
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Mangold E, B?hmer AC, Ishorst N, Hoebel AK, G?ltepe P, Schuenke H, Klamt J, Hofmann A, G?lz L, Raff R, Tessmann P, Nowak S, Reutter H, Hemprich A, Kreusch T, Kramer FJ, Braumann B, Reich R, Schmidt G, J?ger A, Reiter R, Brosch S, Stavusis J, Ishida M, Seselgyte R, Moore GE, N?then MM, Borck G, Aldhorae KA, Lace B, Stanier P, Knapp M, Ludwig KU. Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate. Am J Hum Genet. 2016 Apr 07; 98(4):755-62.
Score: 0.032