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Novel DICER1 mutation as cause of multinodular goiter in children.
Darrat I, Bedoyan JK, Chen M, Schuette JL, Lesperance MM. Darrat I, et al. Among authors: lesperance mm. Head Neck. 2013 Dec;35(12):E369-71. doi: 10.1002/hed.23250. Epub 2013 Jun 1. Head Neck. 2013. PMID: 23728841 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: lesperance mm. 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.
Clinical characterization of novel chromosome 22q13 microdeletions.
Ha JF, Ahmad A, Lesperance MM. Ha JF, et al. Among authors: lesperance mm. Int J Pediatr Otorhinolaryngol. 2017 Apr;95:121-126. doi: 10.1016/j.ijporl.2016.12.008. Epub 2016 Dec 23. Int J Pediatr Otorhinolaryngol. 2017. PMID: 28576520
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.
Bespalova IN, Van Camp G, Bom SJ, Brown DJ, Cryns K, DeWan AT, Erson AE, Flothmann K, Kunst HP, Kurnool P, Sivakumaran TA, Cremers CW, Leal SM, Burmeister M, Lesperance MM. Bespalova IN, et al. Among authors: lesperance mm. Hum Mol Genet. 2001 Oct 15;10(22):2501-8. doi: 10.1093/hmg/10.22.2501. Hum Mol Genet. 2001. PMID: 11709537 Free PMC article.
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
Rendtorff ND, Lodahl M, Boulahbel H, Johansen IR, Pandya A, Welch KO, Norris VW, Arnos KS, Bitner-Glindzicz M, Emery SB, Mets MB, Fagerheim T, Eriksson K, Hansen L, Bruhn H, Möller C, Lindholm S, Ensgaard S, Lesperance MM, Tranebjaerg L. Rendtorff ND, et al. Among authors: lesperance mm. Am J Med Genet A. 2011 Jun;155A(6):1298-313. doi: 10.1002/ajmg.a.33970. Epub 2011 Apr 28. Am J Med Genet A. 2011. PMID: 21538838 Free PMC 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: lesperance mm. 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.
62 results