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Page 1
Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.
Schlaubitz S, Yatsenko SA, Smith LD, Keller KL, Vissers LE, Scott DA, Cai WW, Reardon W, Abdul-Rahman OA, Lammer EJ, Lifchez CA, Magenis E, Veltman JA, Stankiewicz P, Zabel BU, Lee B. Schlaubitz S, et al. Among authors: lammer ej. Am J Med Genet A. 2007 May 15;143A(10):1071-81. doi: 10.1002/ajmg.a.31685. Am J Med Genet A. 2007. PMID: 17431898
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.
Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, Yang XJ, Gingras MC, Gibbs RA, Rosenblatt DS, Majewski J, Lee BH. Campeau PM, et al. Among authors: lammer ej. Am J Hum Genet. 2012 Feb 10;90(2):282-9. doi: 10.1016/j.ajhg.2011.11.023. Epub 2012 Jan 19. Am J Hum Genet. 2012. PMID: 22265014 Free PMC article.
Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.
Mendoza-Londono R, Lammer E, Watson R, Harper J, Hatamochi A, Hatamochi-Hayashi S, Napierala D, Hermanns P, Collins S, Roa BB, Hedge MR, Wakui K, Nguyen D, Stockton DW, Lee B. Mendoza-Londono R, et al. Am J Hum Genet. 2005 Jul;77(1):161-8. doi: 10.1086/431654. Epub 2005 May 27. Am J Hum Genet. 2005. PMID: 15924278 Free PMC article.
Candidate region for Coffin-Siris syndrome at 7q32-->34.
McGhee EM, Klump CJ, Bitts SM, Cotter PD, Lammer EJ. McGhee EM, et al. Among authors: lammer ej. Am J Med Genet. 2000 Jul 31;93(3):241-3. doi: 10.1002/1096-8628(20000731)93:3<241::aid-ajmg16>3.0.co;2-e. Am J Med Genet. 2000. PMID: 10925390
NAT2 variation and idiopathic talipes equinovarus (clubfoot).
Hecht JT, Ester A, Scott A, Wise CA, Iovannisci DM, Lammer EJ, Langlois PH, Blanton SH. Hecht JT, et al. Among authors: lammer ej. Am J Med Genet A. 2007 Oct 1;143A(19):2285-91. doi: 10.1002/ajmg.a.31927. Am J Med Genet A. 2007. PMID: 17726690
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. Osoegawa K, et al. Among authors: lammer ej. J Med Genet. 2008 Feb;45(2):81-6. doi: 10.1136/jmg.2007.052191. Epub 2007 Sep 14. J Med Genet. 2008. PMID: 17873121 Free PMC article.
Planar cell polarity pathway genes and risk for spina bifida.
Wen S, Zhu H, Lu W, Mitchell LE, Shaw GM, Lammer EJ, Finnell RH. Wen S, et al. Among authors: lammer ej. Am J Med Genet A. 2010 Feb;152A(2):299-304. doi: 10.1002/ajmg.a.33230. Am J Med Genet A. 2010. PMID: 20101694 Free PMC article.
181 results