Philippe Stanier to Syndrome
This is a "connection" page, showing publications Philippe Stanier has written about Syndrome.
Connection Strength
0.191
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Stanier P, Moore GE. Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts. Hum Mol Genet. 2004 Apr 01; 13 Spec No 1:R73-81.
Score: 0.055
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Sommerlad B, Seselgyte R, Lees M, Pauws E, Stanier P, Sell D. Familial Absent Uvula With Velopharyngeal Incompetence-A New Syndrome? Cleft Palate Craniofac J. 2020 04; 57(4):514-519.
Score: 0.041
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Muggenthaler MM, Chowdhury B, Hasan SN, Cross HE, Mark B, Harlalka GV, Patton MA, Ishida M, Behr ER, Sharma S, Zahka K, Faqeih E, Blakley B, Jackson M, Lees M, Dolinsky V, Cross L, Stanier P, Salter C, Baple EL, Alkuraya FS, Crosby AH, Triggs-Raine B, Chioza BA. Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. PLoS Genet. 2017 Jan; 13(1):e1006470.
Score: 0.034
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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: 0.027
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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: 0.022
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Hitchins MP, Bentley L, Monk D, Beechey C, Peters J, Kelsey G, Ishino F, Preece MA, Stanier P, Moore GE. DDC and COBL, flanking the imprinted GRB10 gene on 7p12, are biallelically expressed. Mamm Genome. 2002 Dec; 13(12):686-91.
Score: 0.013