Alders M - Search Results

1

Aberrant humoral immune reactivity in DOCK8 deficiency with follicular hyperplasia and nodal plasmacytosis.

aan de Kerk DJ, van Leeuwen EM, Jansen MH, van den Berg JM, Alders M, Vermont CL, van Lier RA, Pals ST, Kuijpers TW. aan de Kerk DJ, et al. Among authors: alders m. Clin Immunol. 2013 Oct;149(1):25-31. doi: 10.1016/j.clim.2013.06.002. Epub 2013 Jun 19. Clin Immunol. 2013. PMID: 23891736

2

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

3

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.

4

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

5

Variable clinical expressivity of STAT3 mutation in hyperimmunoglobulin E syndrome: genetic and clinical studies of six patients.

Wolach O, Kuijpers T, Ben-Ari J, Gavrieli R, Feinstein-Goren N, Alders M, Garty BZ, Wolach B. Wolach O, et al. Among authors: alders m. J Clin Immunol. 2014 Feb;34(2):163-70. doi: 10.1007/s10875-014-9988-4. Epub 2014 Jan 23. J Clin Immunol. 2014. PMID: 24452316

6

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJA, Pals ST, Ocaka L, James C, Müller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D, Arts HH, Kuijpers TW. Oud MM, et al. Among authors: alders m. Am J Hum Genet. 2017 Feb 2;100(2):281-296. doi: 10.1016/j.ajhg.2017.01.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132690 Free PMC article.

7

Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical FOXP3 Mutation.

Tuijnenburg P, Cuadrado E, Bosch AM, Kindermann A, Jansen MH, Alders M, van Leeuwen EM, Kuijpers TW. Tuijnenburg P, et al. Among authors: alders m. Front Pediatr. 2017 Feb 27;5:37. doi: 10.3389/fped.2017.00037. eCollection 2017. Front Pediatr. 2017. PMID: 28289675 Free PMC article.

8

A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder.

Daniels EG, Alders M, Lezzerini M, McDonald A, Peters M, Kuijpers TW, Lakeman P, Houtkooper RH, MacInnes AW. Daniels EG, et al. Among authors: alders m. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004457. doi: 10.1101/mcs.a004457. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31653659 Free PMC article.

9

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

10

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

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