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Page 1
Characterization of a stapes ankylosis family with a NOG mutation.
Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Gebarski SS, Lesperance MM. Brown DJ, et al. Among authors: martin dm. Otol Neurotol. 2003 Mar;24(2):210-5. doi: 10.1097/00129492-200303000-00014. Otol Neurotol. 2003. PMID: 12621334
Systemic lupus erythematosus in a man with Noonan syndrome.
Martin DM, Gencyuz CF, Petty EM. Martin DM, et al. Am J Med Genet. 2001 Jul 22;102(1):59-62. doi: 10.1002/1096-8628(20010722)102:1<59::aid-ajmg1351>3.0.co;2-o. Am J Med Genet. 2001. PMID: 11471173 Free article.
Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.
Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM. Brown DJ, et al. Among authors: martin dm. Am J Hum Genet. 2002 Sep;71(3):618-24. doi: 10.1086/342067. Epub 2002 Jun 27. Am J Hum Genet. 2002. PMID: 12089654 Free PMC article.
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.
Jensen DR, Martin DM, Gebarski S, Sahoo T, Brundage EK, Chinault AC, Otto EA, Chaki M, Hildebrandt F, Cheung SW, Lesperance MM. Jensen DR, et al. Among authors: martin dm. Am J Med Genet A. 2009 Mar;149A(3):396-402. doi: 10.1002/ajmg.a.32691. Am J Med Genet A. 2009. PMID: 19215039 Free PMC article.
372 results