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Page 1
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.
Birnbaum S, Ludwig KU, Reutter H, Herms S, Steffens M, Rubini M, Baluardo C, Ferrian M, Almeida de Assis N, Alblas MA, Barth S, Freudenberg J, Lauster C, Schmidt G, Scheer M, Braumann B, Bergé SJ, Reich RH, Schiefke F, Hemprich A, Pötzsch S, Steegers-Theunissen RP, Pötzsch B, Moebus S, Horsthemke B, Kramer FJ, Wienker TF, Mossey PA, Propping P, Cichon S, Hoffmann P, Knapp M, Nöthen MM, Mangold E. Birnbaum S, et al. Among authors: schmidt g. Nat Genet. 2009 Apr;41(4):473-7. doi: 10.1038/ng.333. Epub 2009 Mar 8. Nat Genet. 2009. PMID: 19270707
Further evidence for the involvement of MYH9 in the etiology of non-syndromic cleft lip with or without cleft palate.
Birnbaum S, Reutter H, Mende M, de Assis NA, Diaz-Lacava A, Herms S, Scheer M, Lauster C, Braumann B, Schmidt G, Martini M, Hemprich A, Pötzsch S, Knapp M, Nöthen MM, Kramer FJ, Mangold E. Birnbaum S, et al. Among authors: schmidt g. Eur J Oral Sci. 2009 Apr;117(2):200-3. doi: 10.1111/j.1600-0722.2008.00604.x. Eur J Oral Sci. 2009. PMID: 19320731
Transforming growth factor-beta receptor type 1 (TGFBR1) is not associated with non-syndromic cleft lip with or without cleft palate in patients of Central European descent.
Reutter H, Birnbaum S, Mende M, de Assis NA, Hoffmann P, Lacava AD, Herms S, Braumann B, Scheer M, Lauster C, Schmidt G, Schiefke F, Dunsche A, Martini M, Knapp M, Kramer FJ, Nöthen MM, Mangold E. Reutter H, et al. Among authors: schmidt g. Int J Pediatr Otorhinolaryngol. 2009 Oct;73(10):1334-8. doi: 10.1016/j.ijporl.2009.06.004. Epub 2009 Jul 7. Int J Pediatr Otorhinolaryngol. 2009. PMID: 19586667
Genome-wide linkage scan of nonsyndromic orofacial clefting in 91 families of central European origin.
Mangold E, Reutter H, Birnbaum S, Walier M, Mattheisen M, Henschke H, Lauster C, Schmidt G, Schiefke F, Reich RH, Scheer M, Hemprich A, Martini M, Braumann B, Krimmel M, Opitz C, Lenz JH, Kramer FJ, Wienker TF, Nöthen MM, Diaz Lacava A. Mangold E, et al. Among authors: schmidt g. Am J Med Genet A. 2009 Dec;149A(12):2680-94. doi: 10.1002/ajmg.a.33136. Am J Med Genet A. 2009. PMID: 19938073
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.
Mangold E, Ludwig KU, Birnbaum S, Baluardo C, Ferrian M, Herms S, Reutter H, de Assis NA, Chawa TA, Mattheisen M, Steffens M, Barth S, Kluck N, Paul A, Becker J, Lauster C, Schmidt G, Braumann B, Scheer M, Reich RH, Hemprich A, Pötzsch S, Blaumeiser B, Moebus S, Krawczak M, Schreiber S, Meitinger T, Wichmann HE, Steegers-Theunissen RP, Kramer FJ, Cichon S, Propping P, Wienker TF, Knapp M, Rubini M, Mossey PA, Hoffmann P, Nöthen MM. Mangold E, et al. Among authors: schmidt g. Nat Genet. 2010 Jan;42(1):24-6. doi: 10.1038/ng.506. Epub 2009 Dec 20. Nat Genet. 2010. PMID: 20023658
IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate.
Birnbaum S, Ludwig KU, Reutter H, Herms S, de Assis NA, Diaz-Lacava A, Barth S, Lauster C, Schmidt G, Scheer M, Saffar M, Martini M, Reich RH, Schiefke F, Hemprich A, Pötzsch S, Pötzsch B, Wienker TF, Hoffmann P, Knapp M, Kramer FJ, Nöthen MM, Mangold E. Birnbaum S, et al. Among authors: schmidt g. Eur J Oral Sci. 2009 Dec;117(6):766-9. doi: 10.1111/j.1600-0722.2009.00680.x. Eur J Oral Sci. 2009. PMID: 20121942
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. Al Chawa T, et al. Among authors: schmidt g. Birth Defects Res A Clin Mol Teratol. 2014 Jun;100(6):493-8. doi: 10.1002/bdra.23244. Epub 2014 Apr 7. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 24706492
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. Mangold E, et al. Among authors: schmidt g. Am J Hum Genet. 2016 Apr 7;98(4):755-62. doi: 10.1016/j.ajhg.2016.02.013. Epub 2016 Mar 24. Am J Hum Genet. 2016. PMID: 27018475 Free PMC article.
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. Klamt J, et al. Among authors: schmidt g. Birth Defects Res A Clin Mol Teratol. 2016 Sep;106(9):767-72. doi: 10.1002/bdra.23539. Epub 2016 Jul 7. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 27384521
2,657 results