Alders M - Search Results

1

Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome.

Kuijpers TW, Nannenberg E, Alders M, Bredius R, Hennekam RC. Kuijpers TW, et al. Among authors: alders m. Pediatrics. 2004 Sep;114(3):e387-91. doi: 10.1542/peds.2003-0651-F. Pediatrics. 2004. PMID: 15342903

2

A locus for hereditary capillary malformations mapped on chromosome 5q.

Breugem CC, Alders M, Salieb-Beugelaar GB, Mannens MM, Van der Horst CM, Hennekam RC. Breugem CC, et al. Among authors: alders m. Hum Genet. 2002 Apr;110(4):343-7. doi: 10.1007/s00439-002-0700-z. Epub 2002 Mar 2. Hum Genet. 2002. PMID: 11941483

3

Etiology of mental retardation in children referred to a tertiary care center: a prospective study.

van Karnebeek CD, Scheper FY, Abeling NG, Alders M, Barth PG, Hoovers JM, Koevoets C, Wanders RJ, Hennekam RC. van Karnebeek CD, et al. Among authors: alders m. Am J Ment Retard. 2005 Jul;110(4):253-67. doi: 10.1352/0895-8017(2005)110[253:EOMRIC]2.0.CO;2. Am J Ment Retard. 2005. PMID: 15941363

4

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.

Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, Holmberg EE, Mannens MM, Mulder MF, Offerhaus GJ, Prescott TE, Schroor EJ, Verheij JB, Witte M, Zwijnenburg PJ, Vikkula M, Schulte-Merker S, Hennekam RC. Alders M, et al. Nat Genet. 2009 Dec;41(12):1272-4. doi: 10.1038/ng.484. Nat Genet. 2009. PMID: 19935664

5

A novel mutation in CD132 causes X-CID with defective T-cell activation and impaired humoral reactivity.

Kuijpers TW, Baars PA, Aan de Kerk DJ, Jansen MH, Derks IA, Bredius RG, Sanders EA, van der Burg M, Alders M, van Lier RA. Kuijpers TW, et al. Among authors: alders m. J Allergy Clin Immunol. 2011 Dec;128(6):1360-1363.e4. doi: 10.1016/j.jaci.2011.07.001. Epub 2011 Aug 9. J Allergy Clin Immunol. 2011. PMID: 21831415 No abstract available.

6

Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene.

de Wijn RS, Oduber CE, Breugem CC, Alders M, Hennekam RC, van der Horst CM. de Wijn RS, et al. Among authors: alders m. Eur J Med Genet. 2012 Mar;55(3):191-5. doi: 10.1016/j.ejmg.2012.01.009. Epub 2012 Jan 28. Eur J Med Genet. 2012. PMID: 22342634

7

Mortality of inherited arrhythmia syndromes: insight into their natural history.

Nannenberg EA, Sijbrands EJ, Dijksman LM, Alders M, van Tintelen JP, Birnie M, van Langen IM, Wilde AA. Nannenberg EA, et al. Among authors: alders m. Circ Cardiovasc Genet. 2012 Apr 1;5(2):183-9. doi: 10.1161/CIRCGENETICS.111.961102. Epub 2012 Feb 28. Circ Cardiovasc Genet. 2012. PMID: 22373669

8

PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.

Hopman SM, Van Rijn RR, Eng C, Bras J, Alders M, van der Horst CM, Hennekam RC, Merks JH. Hopman SM, et al. Among authors: alders m. Am J Med Genet A. 2012 Jul;158A(7):1719-23. doi: 10.1002/ajmg.a.35406. Epub 2012 May 24. Am J Med Genet A. 2012. PMID: 22628360

9

Increase in central striatal dopamine transporters in patients with Shwachman-Diamond syndrome: additional evidence of a brain phenotype.

Booij J, Reneman L, Alders M, Kuijpers TW. Booij J, et al. Among authors: alders m. Am J Med Genet A. 2013 Jan;161A(1):102-7. doi: 10.1002/ajmg.a.35687. Epub 2012 Dec 14. Am J Med Genet A. 2013. PMID: 23239620

10

Intellectual disability and hemizygous GPD2 mutation.

Barge-Schaapveld DQ, Ofman R, Knegt AC, Alders M, Höhne W, Kemp S, Hennekam RC. Barge-Schaapveld DQ, et al. Among authors: alders m. Am J Med Genet A. 2013 May;161A(5):1044-50. doi: 10.1002/ajmg.a.35873. Epub 2013 Mar 29. Am J Med Genet A. 2013. PMID: 23554088

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