Lombardi MP - Search Results

1

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

2

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.

Mackay DJG, Bliek J, Lombardi MP, Russo S, Calzari L, Guzzetti S, Izzi C, Selicorni A, Melis D, Temple K, Maher E, Brioude F, Netchine I, Eggermann T. Mackay DJG, et al. Among authors: lombardi mp. Genet Res (Camb). 2019 Mar 4;101:e3. doi: 10.1017/S001667231900003X. Genet Res (Camb). 2019. PMID: 30829192 Free PMC article.

3

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.

4

Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature.

Mary L, Scheidecker S, Kohler M, Lombardi MP, Delezoide AL, Auberger E, Triau S, Colin E, Gerard M, Grzeschik KH, Dollfus H, Antal MC. Mary L, et al. Among authors: lombardi mp. Am J Med Genet A. 2017 Feb;173(2):479-486. doi: 10.1002/ajmg.a.37974. Epub 2016 Sep 13. Am J Med Genet A. 2017. PMID: 27623003 Review.

5

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.

6

WT1 deletion leading to severe 46,XY gonadal dysgenesis, Wilms tumor and gonadoblastoma: case report.

Finken MJ, Hendriks YM, van der Voorn JP, Veening MA, Lombardi MP, Rotteveel J. Finken MJ, et al. Among authors: lombardi mp. Horm Res Paediatr. 2015;83(3):211-6. doi: 10.1159/000368964. Epub 2015 Jan 20. Horm Res Paediatr. 2015. PMID: 25613702

7

The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation.

Overwater E, Smulders Y, van der Burg M, Lombardi MP, Meijers-Heijboer HE, Kuijpers TW, Houweling AC. Overwater E, et al. Among authors: lombardi mp. Eur J Pediatr. 2014 Dec;173(12):1695-8. doi: 10.1007/s00431-014-2313-7. Epub 2014 Apr 12. Eur J Pediatr. 2014. PMID: 24723092

8

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

9

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

10

Yield of molecular and clinical testing for arrhythmia syndromes: report of 15 years' experience.

Hofman N, Tan HL, Alders M, Kolder I, de Haij S, Mannens MM, Lombardi MP, Dit Deprez RH, van Langen I, Wilde AA. Hofman N, et al. Among authors: lombardi mp. Circulation. 2013 Oct 1;128(14):1513-21. doi: 10.1161/CIRCULATIONAHA.112.000091. Epub 2013 Aug 20. Circulation. 2013. PMID: 23963746

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