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Mutation update for the PORCN gene.
Lombardi MP, Bulk S, Celli J, Lampe A, Gabbett MT, Ousager LB, van der Smagt JJ, Soller M, Stattin EL, Mannens MA, Smigiel R, Hennekam RC. Lombardi MP, et al. Hum Mutat. 2011 Jul;32(7):723-8. doi: 10.1002/humu.21505. Epub 2011 Jun 21. Hum Mutat. 2011. PMID: 21472892 Review.
Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.
Maas SM, Lombardi MP, van Essen AJ, Wakeling EL, Castle B, Temple IK, Kumar VK, Writzl K, Hennekam RC. Maas SM, et al. Among authors: lombardi mp. J Med Genet. 2009 Oct;46(10):716-20. doi: 10.1136/jmg.2009.068403. Epub 2009 Jul 7. J Med Genet. 2009. PMID: 19586929
Focal dermal hypoplasia without focal dermal hypoplasia.
Contreras-Capetillo SN, Lombardi MP, Pinto-Escalante D, Hennekam RC. Contreras-Capetillo SN, et al. Among authors: lombardi mp. Am J Med Genet A. 2014 Mar;164A(3):778-81. doi: 10.1002/ajmg.a.36341. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357603
Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.
Eggermann T, Brioude F, Russo S, Lombardi MP, Bliek J, Maher ER, Larizza L, Prawitt D, Netchine I, Gonzales M, Grønskov K, Tümer Z, Monk D, Mannens M, Chrzanowska K, Walasek MK, Begemann M, Soellner L, Eggermann K, Tenorio J, Nevado J, Moore GE, Mackay DJ, Temple K, Gillessen-Kaesbach G, Ogata T, Weksberg R, Algar E, Lapunzina P. Eggermann T, et al. Among authors: lombardi mp. Eur J Hum Genet. 2016 Jun;24(6):784-93. doi: 10.1038/ejhg.2015.224. Epub 2015 Oct 28. Eur J Hum Genet. 2016. PMID: 26508573 Free PMC article. Review.
A comprehensive gene mutation screen in men with asthenozoospermia.
Visser L, Westerveld GH, Xie F, van Daalen SK, van der Veen F, Lombardi MP, Repping S. Visser L, et al. Among authors: lombardi mp. Fertil Steril. 2011 Mar 1;95(3):1020-4.e1-9. doi: 10.1016/j.fertnstert.2010.11.067. Epub 2011 Jan 21. Fertil Steril. 2011. PMID: 21255775 Free article.
Absence of mutations in the PCI gene in subfertile men.
Gianotten J, Schimmel AW, van der Veen F, Lombardi MP, Meijers JC. Gianotten J, et al. Among authors: lombardi mp. Mol Hum Reprod. 2004 Nov;10(11):807-13. doi: 10.1093/molehr/gah109. Epub 2004 Sep 17. Mol Hum Reprod. 2004. PMID: 15377716
35 results