Lombardi MP - Search Results

1

Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.

Lombardi MP, Redeker EJ, Defesche JC, Kamerling SW, Trip MD, Mannens MM, Havekes LM, Kastelein JJ. Lombardi MP, et al. Clin Genet. 2000 Feb;57(2):116-24. doi: 10.1034/j.1399-0004.2000.570205.x. Clin Genet. 2000. PMID: 10735632

2

Molecular genetic testing for familial hypercholesterolemia in the Netherlands: a stepwise screening strategy enhances the mutation detection rate.

Lombardi MP, Redeker EJ, van Gent DH, Smeele KL, Weerdesteijn R, Mannens MM. Lombardi MP, et al. Genet Test. 2006 Summer;10(2):77-84. doi: 10.1089/gte.2006.10.77. Genet Test. 2006. PMID: 16792510

3

Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics.

Peeters AV, Van Gaal LF, du Plessis L, Lombardi MP, Havekes LM, Kotze MJ. Peeters AV, et al. Among authors: lombardi mp. Hum Genet. 1997 Aug;100(2):266-70. doi: 10.1007/s004390050503. Hum Genet. 1997. PMID: 9254862

4

Sijbrands EJ, Lombardi MP, Westendorp RG, Leuven JA, Meinders AE, Van der Laarse A, Frants RR, Havekes LM, Smelt AH. Sijbrands EJ, et al. Among authors: lombardi mp. Atherosclerosis. 1998 Feb;136(2):247-54. doi: 10.1016/s0021-9150(97)00216-5. Atherosclerosis. 1998. PMID: 9543095

5

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

6

Further Introduction of DNA Methylation (DNAm) Arrays in Regular Diagnostics.

Mannens MMAM, Lombardi MP, Alders M, Henneman P, Bliek J. Mannens MMAM, et al. Among authors: lombardi mp. Front Genet. 2022 Jul 4;13:831452. doi: 10.3389/fgene.2022.831452. eCollection 2022. Front Genet. 2022. PMID: 35860466 Free PMC article. Review.

7

Chromosomal region 11p15 is associated with male factor subfertility.

Gianotten J, van der Veen F, Alders M, Leschot NJ, Tanck MW, Land JA, Kremer JA, Hoefsloot LH, Mannens MM, Lombardi MP, Hoffer MJ. Gianotten J, et al. Among authors: lombardi mp. Mol Hum Reprod. 2003 Oct;9(10):587-92. doi: 10.1093/molehr/gag081. Mol Hum Reprod. 2003. PMID: 12970396

8

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.

9

Mutations in the human BOULE gene are not a major cause of impaired spermatogenesis.

Westerveld GH, Repping S, Leschot NJ, van der Veen F, Lombardi MP. Westerveld GH, et al. Among authors: lombardi mp. Fertil Steril. 2005 Feb;83(2):513-5. doi: 10.1016/j.fertnstert.2004.10.013. Fertil Steril. 2005. PMID: 15705409 Free article.

10

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

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