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306 results

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Page 1
Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.
Tekin M, Oztürkmen Akay H, Fitoz S, Birnbaum S, Cengiz FB, Sennaroğlu L, Incesulu A, Yüksel Konuk EB, Hasanefendioğlu Bayrak A, Sentürk S, Cebeci I, Utine GE, Tunçbilek E, Nance WE, Duman D. Tekin M, et al. Among authors: birnbaum s. Clin Genet. 2008 Jun;73(6):554-65. doi: 10.1111/j.1399-0004.2008.01004.x. Epub 2008 Apr 22. Clin Genet. 2008. PMID: 18435799
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. Nat Genet. 2009 Apr;41(4):473-7. doi: 10.1038/ng.333. Epub 2009 Mar 8. Nat Genet. 2009. PMID: 19270707
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.
Brockschmidt A, Todt U, Ryu S, Hoischen A, Landwehr C, Birnbaum S, Frenck W, Radlwimmer B, Lichter P, Engels H, Driever W, Kubisch C, Weber RG. Brockschmidt A, et al. Among authors: birnbaum s. Hum Mol Genet. 2007 Jun 15;16(12):1488-94. doi: 10.1093/hmg/ddm099. Epub 2007 May 3. Hum Mol Genet. 2007. PMID: 17478476
Family-based association study of the MTHFR polymorphism C677T in patients with nonsyndromic cleft lip and palate from central Europe.
Reutter H, Birnbaum S, Lacava AD, Mende M, Henschke H, Bergé S, Braumann B, Lauster C, Schiefke F, Wenghoefer M, Saffar M, Reich R, Scheer M, Kramer FJ, Knapp M, Mangold E. Reutter H, et al. Among authors: birnbaum s. Cleft Palate Craniofac J. 2008 May;45(3):267-71. doi: 10.1597/06-174. Cleft Palate Craniofac J. 2008. PMID: 18452350
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: birnbaum s. 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: birnbaum s. 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: birnbaum s. Nat Genet. 2010 Jan;42(1):24-6. doi: 10.1038/ng.506. Epub 2009 Dec 20. Nat Genet. 2010. PMID: 20023658
306 results