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31 results
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Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization.
Hol JA, Kuiper RP, van Dijk F, Waanders E, van Peer SE, Koudijs MJ, Bladergroen R, van Reijmersdal SV, Morgado LM, Bliek J, Lombardi MP, Hopman S, Drost J, de Krijger RR, van den Heuvel-Eibrink MM, Jongmans MCJ. Hol JA, et al. Among authors: lombardi mp. J Clin Oncol. 2022 Mar 1:JCO2102510. doi: 10.1200/JCO.21.02510. Online ahead of print. J Clin Oncol. 2022. PMID: 35230882
Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients.
Severino-Freire M, Maza A, Lombardi MP, Tournier E, Chassaing N, Mazereeuw-Hautier J. Severino-Freire M, et al. Among authors: lombardi mp. Acta Derm Venereol. 2017 Jul 6;97(7):853-854. doi: 10.2340/00015555-2648. Acta Derm Venereol. 2017. PMID: 28293688 Free article. No abstract available.
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.
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
The IGSF1 deficiency syndrome: characteristics of male and female patients.
Joustra SD, Schoenmakers N, Persani L, Campi I, Bonomi M, Radetti G, Beck-Peccoz P, Zhu H, Davis TM, Sun Y, Corssmit EP, Appelman-Dijkstra NM, Heinen CA, Pereira AM, Varewijck AJ, Janssen JA, Endert E, Hennekam RC, Lombardi MP, Mannens MM, Bak B, Bernard DJ, Breuning MH, Chatterjee K, Dattani MT, Oostdijk W, Biermasz NR, Wit JM, van Trotsenburg AS. Joustra SD, et al. Among authors: lombardi mp. J Clin Endocrinol Metab. 2013 Dec;98(12):4942-52. doi: 10.1210/jc.2013-2743. Epub 2013 Oct 9. J Clin Endocrinol Metab. 2013. PMID: 24108313
31 results