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Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.
Am J Hum Genet. 2011 May 13;88(5):574-85. doi: 10.1016/j.ajhg.2011.04.013.
Am J Hum Genet. 2011.
PMID: 21565291
Free PMC article.
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.
Rainger J, Bengani H, Campbell L, Anderson E, Sokhi K, Lam W, Riess A, Ansari M, Smithson S, Lees M, Mercer C, McKenzie K, Lengfeld T, Gener Querol B, Branney P, McKay S, Morrison H, Medina B, Robertson M, Kohlhase J, Gordon C, Kirk J, Wieczorek D, Fitzpatrick DR.
Rainger J, et al.
Hum Mol Genet. 2012 Sep 15;21(18):3969-83. doi: 10.1093/hmg/dds218. Epub 2012 Jun 12.
Hum Mol Genet. 2012.
PMID: 22692683
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Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.
Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, Saponari A, Branney P, Fisher M, Morrison H, Bicknell L, Gautier P, Perry P, Sokhi K, Sexton D, Bardakjian TM, Schneider AS, Elcioglu N, Ozkinay F, Koenig R, Mégarbané A, Semerci CN, Khan A, Zafar S, Hennekam R, Sousa SB, Ramos L, Garavelli L, Furga AS, Wischmeijer A, Jackson IJ, Gillessen-Kaesbach G, Brunner HG, Wieczorek D, van Bokhoven H, Fitzpatrick DR.
Rainger J, et al.
PLoS Genet. 2011 Jul;7(7):e1002114. doi: 10.1371/journal.pgen.1002114. Epub 2011 Jul 7.
PLoS Genet. 2011.
PMID: 21750680
Free PMC article.
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Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations.
Harewood L, Liu M, Keeling J, Howatson A, Whiteford M, Branney P, Evans M, Fantes J, Fitzpatrick DR.
Harewood L, et al.
PLoS One. 2010 Aug 25;5(8):e12375. doi: 10.1371/journal.pone.0012375.
PLoS One. 2010.
PMID: 20811621
Free PMC article.
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Cloning and characterisation of Myf5 and MyoD orthologues in Xenopus tropicalis.
Fisher ME, Peck W, Branney PA, Pownall ME.
Fisher ME, et al. Among authors: branney pa.
Biol Cell. 2003 Nov;95(8):555-61. doi: 10.1016/j.biolcel.2003.09.002.
Biol Cell. 2003.
PMID: 14630393
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Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.
Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, Saponari A, Branney P, Fisher M, Morrison H, Bicknell L, Gautier P, Perry P, Sokhi K, Sexton D, Bardakjian TM, Schneider AS, Elcioglu N, Ozkinay F, Koenig R, Mégarbané A, Semerci CN, Khan A, Zafar S, Hennekam R, Sousa SB, Ramos L, Garavelli L, Furga AS, Wischmeijer A, Jackson IJ, Gillessen-Kaesbach G, Brunner HG, Wieczorek D, van Bokhoven H, FitzPatrick DR.
Rainger J, et al.
PLoS Genet. 2018 Dec 26;14(12):e1007866. doi: 10.1371/journal.pgen.1007866. eCollection 2018 Dec.
PLoS Genet. 2018.
PMID: 30586382
Free PMC article.
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Characterisation of the fibroblast growth factor dependent transcriptome in early development.
Branney PA, Faas L, Steane SE, Pownall ME, Isaacs HV.
Branney PA, et al.
PLoS One. 2009;4(3):e4951. doi: 10.1371/journal.pone.0004951. Epub 2009 Mar 31.
PLoS One. 2009.
PMID: 19333377
Free PMC article.
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