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Items: 1 to 50 of 148

1.

Familial Absent Uvula With Velopharyngeal Incompetence-A New Syndrome?

Sommerlad B, Seselgyte R, Lees M, Pauws E, Stanier P, Sell D.

Cleft Palate Craniofac J. 2019 Oct 13:1055665619880401. doi: 10.1177/1055665619880401. [Epub ahead of print]

PMID:
31607140
2.

Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans.

Demetriou C, Chanudet E; GOSgene, Joseph A, Topf M, Thomas AC, Bitner-Glindzicz M, Regan L, Stanier P, Moore GE.

Hum Mol Genet. 2019 Oct 15;28(20):3466-3474. doi: 10.1093/hmg/ddz203.

PMID:
31504499
3.

Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages.

Seda M, Peskett E, Demetriou C, Bryant D, Moore GE, Stanier P, Jenkins D.

F1000Res. 2019 Mar 11;8:273. doi: 10.12688/f1000research.17314.1. eCollection 2019.

4.

Mouse Models of Syndromic Craniosynostosis.

Lee KKL, Stanier P, Pauws E.

Mol Syndromol. 2019 Feb;10(1-2):58-73. doi: 10.1159/000491004. Epub 2018 Jul 13. Review.

5.

Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family.

Seselgyte R, Bryant D, Demetriou C, Ishida M, Peskett E, Moreno N, Morrogh D, Sell D, Lees M, Farrall M, Moore GE, Sommerlad B, Pauws E, Stanier P.

J Dent Res. 2019 Jun;98(6):659-665. doi: 10.1177/0022034519837245. Epub 2019 Mar 27.

6.

Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate.

Howe LJ, Richardson TG, Arathimos R, Alvizi L, Passos-Bueno MR, Stanier P, Nohr E, Ludwig KU, Mangold E, Knapp M, Stergiakouli E, Pourcain BS, Smith GD, Sandy J, Relton CL, Lewis SJ, Hemani G, Sharp GC.

Epigenomics. 2019 Feb;11(2):133-145. doi: 10.2217/epi-2018-0091. Epub 2019 Jan 14.

7.

Overexpression of Fgfr2c causes craniofacial bone hypoplasia and ameliorates craniosynostosis in the Crouzon mouse.

Lee KKL, Peskett E, Quinn CM, Aiello R, Adeeva L, Moulding DA, Stanier P, Pauws E.

Dis Model Mech. 2018 Nov 9;11(11). pii: dmm035311. doi: 10.1242/dmm.035311.

8.

Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice.

De Castro SCP, Gustavsson P, Marshall AR, Gordon WM, Galea G, Nikolopoulou E, Savery D, Rolo A, Stanier P, Andersen B, Copp AJ, Greene NDE.

Hum Mol Genet. 2018 Dec 15;27(24):4218-4230. doi: 10.1093/hmg/ddy313.

9.

Enrichment of Clinically Relevant Organisms in Spontaneous Preterm-Delivered Placentas and Reagent Contamination across All Clinical Groups in a Large Pregnancy Cohort in the United Kingdom.

Leon LJ, Doyle R, Diez-Benavente E, Clark TG, Klein N, Stanier P, Moore GE.

Appl Environ Microbiol. 2018 Jul 2;84(14). pii: e00483-18. doi: 10.1128/AEM.00483-18. Print 2018 Jul 15.

10.

Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.

Fratta P, Sivakumar P, Humphrey J, Lo K, Ricketts T, Oliveira H, Brito-Armas JM, Kalmar B, Ule A, Yu Y, Birsa N, Bodo C, Collins T, Conicella AE, Mejia Maza A, Marrero-Gagliardi A, Stewart M, Mianne J, Corrochano S, Emmett W, Codner G, Groves M, Fukumura R, Gondo Y, Lythgoe M, Pauws E, Peskett E, Stanier P, Teboul L, Hallegger M, Calvo A, Chiò A, Isaacs AM, Fawzi NL, Wang E, Housman DE, Baralle F, Greensmith L, Buratti E, Plagnol V, Fisher EM, Acevedo-Arozena A.

EMBO J. 2018 Jun 1;37(11). pii: e98684. doi: 10.15252/embj.201798684. Epub 2018 May 15.

11.

SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.

Bryant D, Liu Y, Datta S, Hariri H, Seda M, Anderson G, Peskett E, Demetriou C, Sousa S, Jenkins D, Clayton P, Bitner-Glindzicz M, Moore GE, Henne WM, Stanier P.

Hum Mol Genet. 2018 Jun 1;27(11):1927-1940. doi: 10.1093/hmg/ddy101.

12.

Spina bifida-predisposing heterozygous mutations in Planar Cell Polarity genes and Zic2 reduce bone mass in young mice.

Orriss IR, Lanham S, Savery D, Greene NDE, Stanier P, Oreffo R, Copp AJ, Galea GL.

Sci Rep. 2018 Feb 20;8(1):3325. doi: 10.1038/s41598-018-21718-x.

13.

Genetic Analyses in Small-for-Gestational-Age Newborns.

Stalman SE, Solanky N, Ishida M, Alemán-Charlet C, Abu-Amero S, Alders M, Alvizi L, Baird W, Demetriou C, Henneman P, James C, Knegt LC, Leon LJ, Mannens MMAM, Mul AN, Nibbering NA, Peskett E, Rezwan FI, Ris-Stalpers C, van der Post JAM, Kamp GA, Plötz FB, Wit JM, Stanier P, Moore GE, Hennekam RC.

J Clin Endocrinol Metab. 2018 Mar 1;103(3):917-925. doi: 10.1210/jc.2017-01843.

PMID:
29342293
14.

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

Piard J, Lespinasse J, Vlckova M, Mensah MA, Iurian S, Simandlova M, Malikova M, Bartsch O, Rossi M, Lenoir M, Nugues F, Mundlos S, Kornak U, Stanier P, Sousa SB, Van Maldergem L.

Am J Med Genet A. 2018 Mar;176(3):668-675. doi: 10.1002/ajmg.a.38604. Epub 2018 Jan 17. Review.

15.

A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.

Ishida M, Cullup T, Boustred C, James C, Docker J, English C; GOSgene, Lench N, Copp AJ, Moore GE, Greene NDE, Stanier P.

Clin Genet. 2018 Apr;93(4):870-879. doi: 10.1111/cge.13189. Epub 2018 Feb 11.

16.

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.

Goos JAC, Swagemakers SMA, Twigg SRF, van Dooren MF, Hoogeboom AJM, Beetz C, Günther S, Magielsen FJ, Ockeloen CW, A Ramos-Arroyo M, Pfundt R, Yntema HG, van der Spek PJ, Stanier P, Wieczorek D, Wilkie AOM, van den Ouweland AMW, Mathijssen IMJ, Hurst JA.

Eur J Hum Genet. 2017 Oct;25(10):1126-1133. doi: 10.1038/ejhg.2017.107. Epub 2017 Jul 26.

17.

Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects.

Alvizi L, Ke X, Brito LA, Seselgyte R, Moore GE, Stanier P, Passos-Bueno MR.

Sci Rep. 2017 May 26;7(1):2441. doi: 10.1038/s41598-017-02721-0.

18.

Sumoylation in Craniofacial Disorders.

Pauws E, Stanier P.

Adv Exp Med Biol. 2017;963:323-335. doi: 10.1007/978-3-319-50044-7_19. Review.

PMID:
28197921
19.

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.

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.

PLoS Genet. 2017 Jan 12;13(1):e1006470. doi: 10.1371/journal.pgen.1006470. eCollection 2017 Jan.

20.

A new biological and clinical resource for research into pregnancy complications: The Baby Bio Bank.

Leon LJ, Solanky N, Stalman SE, Demetriou C, Abu-Amero S, Stanier P, Regan L, Moore GE.

Placenta. 2016 Oct;46:31-37. doi: 10.1016/j.placenta.2016.08.085. Epub 2016 Aug 24.

21.

Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants.

Savastano CP, Brito LA, Faria ÁC, Setó-Salvia N, Peskett E, Musso CM, Alvizi L, Ezquina SA, James C, GOSgene, Beales P, Lees M, Moore GE, Stanier P, Passos-Bueno MR.

Clin Genet. 2017 May;91(5):683-689. doi: 10.1111/cge.12823. Epub 2016 Jul 26.

PMID:
27350171
22.

Erratum to: Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse models.

Mendioroz M, Do C, Jiang X, Liu C, Darbary HK, Lang CF, Lin J, Thomas A, Abu-Amero S, Stanier P, Temkin A, Yale A, Liu MM, Li Y, Salas M, Kerkel K, Capone G, Silverman W, Yu YE, Moore G, Wegiel J, Tycko B.

Genome Biol. 2016 Jun 9;17(1):123. No abstract available.

23.

Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.

Mangold E, Böhmer AC, Ishorst N, Hoebel AK, Gültepe P, Schuenke H, Klamt J, Hofmann A, Gölz L, Raff R, Tessmann P, Nowak S, Reutter H, Hemprich A, Kreusch T, Kramer FJ, Braumann B, Reich R, Schmidt G, Jäger A, Reiter R, Brosch S, Stavusis J, Ishida M, Seselgyte R, Moore GE, Nöthen MM, Borck G, Aldhorae KA, Lace B, Stanier P, Knapp M, Ludwig KU.

Am J Hum Genet. 2016 Apr 7;98(4):755-62. doi: 10.1016/j.ajhg.2016.02.013. Epub 2016 Mar 24.

24.

Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse models.

Mendioroz M, Do C, Jiang X, Liu C, Darbary HK, Lang CF, Lin J, Thomas A, Abu-Amero S, Stanier P, Temkin A, Yale A, Liu MM, Li Y, Salas M, Kerkel K, Capone G, Silverman W, Yu YE, Moore G, Wegiel J, Tycko B.

Genome Biol. 2015 Nov 25;16:263. doi: 10.1186/s13059-015-0827-6. Erratum in: Genome Biol. 2016;17(1):123.

25.

Investigation of the Annexin A5 M2 haplotype in 500 white European couples who have experienced recurrent spontaneous abortion.

Demetriou C, Abu-Amero S, White S, Peskett E, Markoff A, Stanier P, Moore GE, Regan L.

Reprod Biomed Online. 2015 Nov;31(5):681-8. doi: 10.1016/j.rbmo.2015.07.004. Epub 2015 Jul 17.

26.

The role and interaction of imprinted genes in human fetal growth.

Moore GE, Ishida M, Demetriou C, Al-Olabi L, Leon LJ, Thomas AC, Abu-Amero S, Frost JM, Stafford JL, Chaoqun Y, Duncan AJ, Baigel R, Brimioulle M, Iglesias-Platas I, Apostolidou S, Aggarwal R, Whittaker JC, Syngelaki A, Nicolaides KH, Regan L, Monk D, Stanier P.

Philos Trans R Soc Lond B Biol Sci. 2015 Mar 5;370(1663):20140074. doi: 10.1098/rstb.2014.0074. Review.

27.

Genome-wide methylation analysis in Silver-Russell syndrome patients.

Prickett AR, Ishida M, Böhm S, Frost JM, Puszyk W, Abu-Amero S, Stanier P, Schulz R, Moore GE, Oakey RJ.

Hum Genet. 2015 Mar;134(3):317-332. doi: 10.1007/s00439-014-1526-1. Epub 2015 Jan 7.

28.

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.

Thomas AC, Williams H, Setó-Salvia N, Bacchelli C, Jenkins D, O'Sullivan M, Mengrelis K, Ishida M, Ocaka L, Chanudet E, James C, Lescai F, Anderson G, Morrogh D, Ryten M, Duncan AJ, Pai YJ, Saraiva JM, Ramos F, Farren B, Saunders D, Vernay B, Gissen P, Straatmaan-Iwanowska A, Baas F, Wood NW, Hersheson J, Houlden H, Hurst J, Scott R, Bitner-Glindzicz M, Moore GE, Sousa SB, Stanier P.

Am J Hum Genet. 2014 Nov 6;95(5):611-21. doi: 10.1016/j.ajhg.2014.10.007. Epub 2014 Nov 6. Erratum in: Am J Hum Genet. 2015 Jun 4;96(6):1008-9.

29.

Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice.

Murdoch JN, Damrau C, Paudyal A, Bogani D, Wells S, Greene ND, Stanier P, Copp AJ.

Dis Model Mech. 2014 Oct;7(10):1153-63. doi: 10.1242/dmm.016758. Epub 2014 Aug 15.

30.

Genetics of cleft lip and/or cleft palate: association with other common anomalies.

Setó-Salvia N, Stanier P.

Eur J Med Genet. 2014 Aug;57(8):381-93. doi: 10.1016/j.ejmg.2014.04.003. Epub 2014 Apr 21. Review.

PMID:
24768816
31.

Identification and validation of loss of function variants in clinical contexts.

Lescai F, Marasco E, Bacchelli C, Stanier P, Mantovani V, Beales P.

Mol Genet Genomic Med. 2014 Jan;2(1):58-63. doi: 10.1002/mgg3.42. Epub 2013 Oct 11.

32.

Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weight.

Demetriou C, Abu-Amero S, Thomas AC, Ishida M, Aggarwal R, Al-Olabi L, Leon LJ, Stafford JL, Syngelaki A, Peebles D, Nicolaides KH, Regan L, Stanier P, Moore GE.

PLoS One. 2014 Jan 15;9(1):e85454. doi: 10.1371/journal.pone.0085454. eCollection 2014.

33.

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.

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, Simandlová M, Van Maldergem L, Stanier P, Beales PL, Vance JE, Moore GE.

Nat Genet. 2014 Jan;46(1):70-6. doi: 10.1038/ng.2829. Epub 2013 Nov 17.

PMID:
24241535
34.

Neural tube defects: recent advances, unsolved questions, and controversies.

Copp AJ, Stanier P, Greene ND.

Lancet Neurol. 2013 Aug;12(8):799-810. doi: 10.1016/S1474-4422(13)70110-8. Epub 2013 Jun 19. Review.

35.

Is LMNB1 a susceptibility gene for neural tube defects in humans?

Robinson A, Partridge D, Malhas A, De Castro SC, Gustavsson P, Thompson DN, Vaux DJ, Copp AJ, Stanier P, Bassuk AG, Greene ND.

Birth Defects Res A Clin Mol Teratol. 2013 Jun;97(6):398-402. doi: 10.1002/bdra.23141. Epub 2013 Jun 3.

36.

Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.

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.

J Invest Dermatol. 2013 Sep;133(9):2229-36. doi: 10.1038/jid.2013.70. Epub 2013 Feb 7. Erratum in: J Invest Dermatol. 2016 Nov;136(11):2326.

37.

Fat dads must not be blamed for their children's health problems.

Moore GE, Stanier P.

BMC Med. 2013 Feb 6;11:30. doi: 10.1186/1741-7015-11-30.

38.

The speech gene FOXP2 is not imprinted.

Thomas AC, Frost JM, Ishida M, Vargha-Khadem F, Moore GE, Stanier P.

J Med Genet. 2012 Nov;49(11):669-70. doi: 10.1136/jmedgenet-2012-101242. Epub 2012 Oct 2. No abstract available.

PMID:
23033221
39.

X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.

Pauws E, Peskett E, Boissin C, Hoshino A, Mengrelis K, Carta E, Abruzzo MA, Lees M, Moore GE, Erickson RP, Stanier P.

Clin Genet. 2013 Apr;83(4):352-8. doi: 10.1111/j.1399-0004.2012.01930.x. Epub 2012 Aug 7.

PMID:
22784330
40.

Development of the lip and palate: FGF signalling.

Stanier P, Pauws E.

Front Oral Biol. 2012;16:71-80. doi: 10.1159/000337618. Epub 2012 Jun 25. Review.

PMID:
22759671
41.

Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development.

Kinsler VA, Abu-Amero S, Budd P, Jackson IJ, Ring SM, Northstone K, Atherton DJ, Bulstrode NW, Stanier P, Hennekam RC, Sebire NJ, Moore GE, Healy E.

J Invest Dermatol. 2012 Aug;132(8):2026-32. doi: 10.1038/jid.2012.95. Epub 2012 May 10.

42.

Investigation of SUMO pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate.

Carta E, Pauws E, Thomas AC, Mengrelis K, Moore GE, Lees M, Stanier P.

Birth Defects Res A Clin Mol Teratol. 2012 Jun;94(6):459-63. doi: 10.1002/bdra.23008. Epub 2012 Apr 10.

PMID:
22492558
43.

Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight.

Ishida M, Monk D, Duncan AJ, Abu-Amero S, Chong J, Ring SM, Pembrey ME, Hindmarsh PC, Whittaker JC, Stanier P, Moore GE.

Am J Hum Genet. 2012 Apr 6;90(4):715-9. doi: 10.1016/j.ajhg.2012.02.021. Epub 2012 Mar 22.

44.

Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.

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.

Hum Mol Genet. 2012 Apr 1;21(7):1496-503. doi: 10.1093/hmg/ddr585. Epub 2011 Dec 13.

45.

Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis.

Robinson A, Escuin S, Doudney K, Vekemans M, Stevenson RE, Greene ND, Copp AJ, Stanier P.

Hum Mutat. 2012 Feb;33(2):440-7. doi: 10.1002/humu.21662. Epub 2011 Dec 20.

46.

The emerging role of epigenetic mechanisms in the etiology of neural tube defects.

Greene ND, Stanier P, Moore GE.

Epigenetics. 2011 Jul;6(7):875-83. Epub 2011 Jul 1.

47.

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.

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.

Nat Genet. 2011 Mar;43(3):197-203. doi: 10.1038/ng.757. Epub 2011 Jan 23.

48.

Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.

Kantaputra PN, Paramee M, Kaewkhampa A, Hoshino A, Lees M, McEntagart M, Masrour N, Moore GE, Pauws E, Stanier P.

J Dent Res. 2011 Apr;90(4):450-5. doi: 10.1177/0022034510391052. Epub 2011 Jan 19.

PMID:
21248356
49.

Evaluation of allelic expression of imprinted genes in adult human blood.

Frost JM, Monk D, Stojilkovic-Mikic T, Woodfine K, Chitty LS, Murrell A, Stanier P, Moore GE.

PLoS One. 2010 Oct 21;5(10):e13556. doi: 10.1371/journal.pone.0013556.

50.

The effects of culture on genomic imprinting profiles in human embryonic and fetal mesenchymal stem cells.

Frost J, Monk D, Moschidou D, Guillot PV, Stanier P, Minger SL, Fisk NM, Moore HD, Moore GE.

Epigenetics. 2011 Jan;6(1):52-62. doi: 10.4161/epi.6.1.13361. Epub 2011 Jan 1.

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