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Items: 1 to 20 of 163

1.

A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk.

Younkin SG, Scharpf RB, Schwender H, Parker MM, Scott AF, Marazita ML, Beaty TH, Ruczinski I.

BMC Genet. 2014 Feb 14;15:24. doi: 10.1186/1471-2156-15-24.

2.

A genome-wide study of inherited deletions identified two regions associated with nonsyndromic isolated oral clefts.

Younkin SG, Scharpf RB, Schwender H, Parker MM, Scott AF, Marazita ML, Beaty TH, Ruczinski I.

Birth Defects Res A Clin Mol Teratol. 2015 Apr;103(4):276-83. doi: 10.1002/bdra.23362.

3.

X-linked markers in the Duchenne muscular dystrophy gene associated with oral clefts.

Patel PJ, Beaty TH, Ruczinski I, Murray JC, Marazita ML, Munger RG, Hetmanski JB, Wu T, Murray T, Rose M, Redett RJ, Jin SC, Lie RT, Wu-Chou YH, Wang H, Ye X, Yeow V, Chong S, Jee SH, Shi B, Scott AF.

Eur J Oral Sci. 2013 Apr;121(2):63-8. doi: 10.1111/eos.12025.

4.

Studies with Wnt genes and nonsyndromic cleft lip and palate.

Menezes R, Letra A, Kim AH, Küchler EC, Day A, Tannure PN, Gomes da Motta L, Paiva KB, Granjeiro JM, Vieira AR.

Birth Defects Res A Clin Mol Teratol. 2010 Nov;88(11):995-1000. doi: 10.1002/bdra.20720.

5.

A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated?

Maarse W, Rozendaal AM, Pajkrt E, Vermeij-Keers C, Mink van der Molen AB, van den Boogaard MJ.

J Med Genet. 2012 Aug;49(8):490-8. doi: 10.1136/jmedgenet-2012-101013. Review.

PMID:
22889852
6.

Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation.

Osoegawa K, Vessere GM, Utami KH, Mansilla MA, Johnson MK, Riley BM, L'Heureux J, Pfundt R, Staaf J, van der Vliet WA, Lidral AC, Schoenmakers EF, Borg A, Schutte BC, Lammer EJ, Murray JC, de Jong PJ.

J Med Genet. 2008 Feb;45(2):81-6.

7.

Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.

Ingersoll RG, Hetmanski J, Park JW, Fallin MD, McIntosh I, Wu-Chou YH, Chen PK, Yeow V, Chong SS, Cheah F, Sull JW, Jee SH, Wang H, Wu T, Murray T, Huang S, Ye X, Jabs EW, Redett R, Raymond G, Scott AF, Beaty TH.

Eur J Hum Genet. 2010 Jun;18(6):726-32. doi: 10.1038/ejhg.2009.228.

8.

Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene.

Ludwig KU, Ahmed ST, Böhmer AC, Sangani NB, Varghese S, Klamt J, Schuenke H, Gültepe P, Hofmann A, Rubini M, Aldhorae KA, Steegers-Theunissen RP, Rojas-Martinez A, Reiter R, Borck G, Knapp M, Nakatomi M, Graf D, Mangold E, Peters H.

PLoS Genet. 2016 Mar 11;12(3):e1005914. doi: 10.1371/journal.pgen.1005914.

9.

Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palate.

Nasser E, Mangold E, Tradowsky DC, Fier H, Becker J, Boehmer AC, Herberz R, Fricker N, Barth S, Wahle P, Nowak S, Reutter H, Reich RH, Lauster C, Braumann B, Kreusch T, Hemprich A, Pötzsch B, Hoffmann P, Kramer FJ, Knapp M, Lange C, Nöthen MM, Ludwig KU.

Birth Defects Res A Clin Mol Teratol. 2012 Nov;94(11):925-33. doi: 10.1002/bdra.23078.

PMID:
23081944
10.

Genome-wide analysis of parent-of-origin effects in non-syndromic orofacial clefts.

Garg P, Ludwig KU, Böhmer AC, Rubini M, Steegers-Theunissen R, Mossey PA, Mangold E, Sharp AJ.

Eur J Hum Genet. 2014 Jun;22(6):822-30. doi: 10.1038/ejhg.2013.235.

11.

Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.

Leslie EJ, Taub MA, Liu H, Steinberg KM, Koboldt DC, Zhang Q, Carlson JC, Hetmanski JB, Wang H, Larson DE, Fulton RS, Kousa YA, Fakhouri WD, Naji A, Ruczinski I, Begum F, Parker MM, Busch T, Standley J, Rigdon J, Hecht JT, Scott AF, Wehby GL, Christensen K, Czeizel AE, Deleyiannis FW, Schutte BC, Wilson RK, Cornell RA, Lidral AC, Weinstock GM, Beaty TH, Marazita ML, Murray JC.

Am J Hum Genet. 2015 Mar 5;96(3):397-411. doi: 10.1016/j.ajhg.2015.01.004.

12.

Identification of microdeletions in candidate genes for cleft lip and/or palate.

Shi M, Mostowska A, Jugessur A, Johnson MK, Mansilla MA, Christensen K, Lie RT, Wilcox AJ, Murray JC.

Birth Defects Res A Clin Mol Teratol. 2009 Jan;85(1):42-51. doi: 10.1002/bdra.20571.

13.

Further evidence for deletions in 7p14.1 contributing to nonsyndromic cleft lip with or without cleft palate.

Klamt J, Hofmann A, Böhmer AC, Hoebel AK, Gölz L, Becker J, Zink AM, Draaken M, Hemprich A, Scheer M, Schmidt G, Martini M, Knapp M, Mangold E, Degenhardt F, Ludwig KU.

Birth Defects Res A Clin Mol Teratol. 2016 Sep;106(9):767-72. doi: 10.1002/bdra.23539.

PMID:
27384521
14.

Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate.

Mangold E, Reutter H, León-Cachón RB, Ludwig KU, Herms S, Chacón-Camacho Ó, Ortiz-López R, Paredes-Zenteno M, Arizpe-Cantú A, Muñoz-Jiménez SG, Nowak S, Kramer FJ, Wienker TF, Nöthen MM, Knapp M, Rojas-Martínez A.

Eur J Oral Sci. 2012 Oct;120(5):373-7. doi: 10.1111/j.1600-0722.2012.00991.x.

PMID:
22984993
15.

Association of AXIN2 with non-syndromic oral clefts in multiple populations.

Letra A, Bjork B, Cooper ME, Szabo-Rogers H, Deleyiannis FW, Field LL, Czeizel AE, Ma L, Garlet GP, Poletta FA, Mereb JC, Lopez-Camelo JS, Castilla EE, Orioli IM, Wendell S, Blanton SH, Liu K, Hecht JT, Marazita ML, Vieira AR, Silva RM.

J Dent Res. 2012 May;91(5):473-8. doi: 10.1177/0022034512440578.

16.

Heterogeneity of oral clefts in relation to associated congenital anomalies.

Matulevičienė A, Preikšaitienė E, Linkevičienė L, Radavičius M, Molytė A, Utkus A, Kučinskas V.

Medicina (Kaunas). 2013;49(2):61-6.

17.

Rare functional variants in genome-wide association identified candidate genes for nonsyndromic clefts in the African population.

Butali A, Mossey P, Adeyemo W, Eshete M, Gaines L, Braimah R, Aregbesola B, Rigdon J, Emeka C, Olutayo J, Ogunlewe O, Ladeinde A, Abate F, Hailu T, Mohammed I, Gravem P, Deribew M, Gesses M, Adeyemo A, Marazita M, Murray J.

Am J Med Genet A. 2014 Oct;164A(10):2567-71. doi: 10.1002/ajmg.a.36691.

18.

Nonsyndromic cleft lip with or without cleft palate: Increased burden of rare variants within Gremlin-1, a component of the bone morphogenetic protein 4 pathway.

Al Chawa T, Ludwig KU, Fier H, Pötzsch B, Reich RH, Schmidt G, Braumann B, Daratsianos N, Böhmer AC, Schuencke H, Alblas M, Fricker N, Hoffmann P, Knapp M, Lange C, Nöthen MM, Mangold E.

Birth Defects Res A Clin Mol Teratol. 2014 Jun;100(6):493-8. doi: 10.1002/bdra.23244.

PMID:
24706492
19.

Candidate pathway based analysis for cleft lip with or without cleft palate.

Zhang TX, Beaty TH, Ruczinski I.

Stat Appl Genet Mol Biol. 2012 Jan 6;11(2). pii: /j/sagmb.2012.11.issue-2/1544-6115.1717/1544-6115.1717.xml. doi: 10.2202/1544-6115.1717.

20.

Fast detection of de novo copy number variants from SNP arrays for case-parent trios.

Scharpf RB, Beaty TH, Schwender H, Younkin SG, Scott AF, Ruczinski I.

BMC Bioinformatics. 2012 Dec 12;13:330. doi: 10.1186/1471-2105-13-330.

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