Hennekam RCM - Search Results

1

Unilateral condylar hyperplasia in hemifacial hyperplasia, is there genetic proof of overgrowth?

Nolte JW, Alders M, Karssemakers LHE, Becking AG, Hennekam RCM. Nolte JW, et al. Among authors: hennekam rcm. Int J Oral Maxillofac Surg. 2020 Nov;49(11):1464-1469. doi: 10.1016/j.ijom.2020.02.002. Epub 2020 Apr 3. Int J Oral Maxillofac Surg. 2020. PMID: 32249036

2

Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.

Bliek J, Maas SM, Ruijter JM, Hennekam RC, Alders M, Westerveld A, Mannens MM. Bliek J, et al. Hum Mol Genet. 2001 Mar 1;10(5):467-76. doi: 10.1093/hmg/10.5.467. Hum Mol Genet. 2001. PMID: 11181570

3

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. Hum Genet. 2002 Apr;110(4):343-7. doi: 10.1007/s00439-002-0700-z. Epub 2002 Mar 2. Hum Genet. 2002. PMID: 11941483

4

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. Pediatrics. 2004 Sep;114(3):e387-91. doi: 10.1542/peds.2003-0651-F. Pediatrics. 2004. PMID: 15342903

5

Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship.

Kuijpers TW, Alders M, Tool AT, Mellink C, Roos D, Hennekam RC. Kuijpers TW, et al. Blood. 2005 Jul 1;106(1):356-61. doi: 10.1182/blood-2004-11-4371. Epub 2005 Mar 15. Blood. 2005. PMID: 15769891 Free article.

6

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. 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

7

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

8

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. 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

9

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. 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

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. 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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