Philippe Stanier to Mutation, Missense
This is a "connection" page, showing publications Philippe Stanier has written about Mutation, Missense.
Connection Strength
0.604
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Andreou AM, Pauws E, Jones MC, Singh MK, Bussen M, Doudney K, Moore GE, Kispert A, Brosens JJ, Stanier P. TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression. Am J Hum Genet. 2007 Oct; 81(4):700-12.
Score: 0.264
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Carta E, Pauws E, Thomas AC, Mengrelis K, Moore GE, Lees M, Stanier P. Investigation of SUMO pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate. Birth Defects Res A Clin Mol Teratol. 2012 Jun; 94(6):459-63.
Score: 0.091
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Robinson A, Escuin S, Doudney K, Vekemans M, Stevenson RE, Greene ND, Copp AJ, Stanier P. Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Hum Mutat. 2012 Feb; 33(2):440-7.
Score: 0.089
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Curtin JA, Quint E, Tsipouri V, Arkell RM, Cattanach B, Copp AJ, Henderson DJ, Spurr N, Stanier P, Fisher EM, Nolan PM, Steel KP, Brown SD, Gray IC, Murdoch JN. Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse. Curr Biol. 2003 Jul 01; 13(13):1129-33.
Score: 0.050
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Demetriou C, Chanudet E, Joseph A, Topf M, Thomas AC, Bitner-Glindzicz M, Regan L, Stanier P, Moore GE. Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans. Hum Mol Genet. 2019 10 15; 28(20):3466-3474.
Score: 0.038
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Robinson A, Partridge D, Malhas A, De Castro SC, Gustavsson P, Thompson DN, Vaux DJ, Copp AJ, Stanier P, Bassuk AG, Greene ND. Is LMNB1 a susceptibility gene for neural tube defects in humans? Birth Defects Res A Clin Mol Teratol. 2013 Jun; 97(6):398-402.
Score: 0.025
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Kinsler VA, Thomas AC, Ishida M, Bulstrode NW, Loughlin S, Hing S, Chalker J, McKenzie K, Abu-Amero S, Slater O, Chanudet E, Palmer R, Morrogh D, Stanier P, Healy E, Sebire NJ, Moore GE. Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. J Invest Dermatol. 2013 Sep; 133(9):2229-36.
Score: 0.024
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Narisawa A, Komatsuzaki S, Kikuchi A, Niihori T, Aoki Y, Fujiwara K, Tanemura M, Hata A, Suzuki Y, Relton CL, Grinham J, Leung KY, Partridge D, Robinson A, Stone V, Gustavsson P, Stanier P, Copp AJ, Greene ND, Tominaga T, Matsubara Y, Kure S. Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans. Hum Mol Genet. 2012 Apr 01; 21(7):1496-503.
Score: 0.022