Hennekam RC - Search Results

1

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. Among authors: hennekam rc. 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.

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

3

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. 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

4

Molecular basis of unilateral condylar hyperplasia?

Nolte JW, Alders M, Karssemakers LHE, Becking AG, Hennekam RCM. Nolte JW, et al. Int J Oral Maxillofac Surg. 2020 Nov;49(11):1397-1401. doi: 10.1016/j.ijom.2020.01.017. Epub 2020 May 16. Int J Oral Maxillofac Surg. 2020. PMID: 32423691

5

Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?

Fleger M, Willomitzer J, Meinsma R, Alders M, Meijer J, Hennekam RCM, Huemer M, van Kuilenburg ABP. Fleger M, et al. JIMD Rep. 2017;37:49-54. doi: 10.1007/8904_2017_14. Epub 2017 Mar 9. JIMD Rep. 2017. PMID: 28275972 Free PMC article.

6

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. Among authors: hennekam rc. Hum Mol Genet. 2001 Mar 1;10(5):467-76. doi: 10.1093/hmg/10.5.467. Hum Mol Genet. 2001. PMID: 11181570

7

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.

Alders M, Mendola A, Adès L, Al Gazali L, Bellini C, Dallapiccola B, Edery P, Frank U, Hornshuh F, Huisman SA, Jagadeesh S, Kayserili H, Keng WT, Lev D, Prada CE, Sampson JR, Schmidtke J, Shashi V, van Bever Y, Van der Aa N, Verhagen JM, Verheij JB, Vikkula M, Hennekam RC. Alders M, et al. Among authors: hennekam rc. Mol Syndromol. 2013 Mar;4(3):107-13. doi: 10.1159/000342486. Epub 2012 Oct 2. Mol Syndromol. 2013. PMID: 23653581 Free PMC article.

8

Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.

Van Balkom ID, Alders M, Allanson J, Bellini C, Frank U, De Jong G, Kolbe I, Lacombe D, Rockson S, Rowe P, Wijburg F, Hennekam RC. Van Balkom ID, et al. Among authors: hennekam rc. Am J Med Genet. 2002 Nov 1;112(4):412-21. doi: 10.1002/ajmg.10707. Am J Med Genet. 2002. PMID: 12376947 Review.

9

Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.

Maas SM, Lombardi MP, van Essen AJ, Wakeling EL, Castle B, Temple IK, Kumar VK, Writzl K, Hennekam RC. Maas SM, et al. Among authors: hennekam rc. J Med Genet. 2009 Oct;46(10):716-20. doi: 10.1136/jmg.2009.068403. Epub 2009 Jul 7. J Med Genet. 2009. PMID: 19586929

10

Hutchinson-Gilford progeria syndrome: review of the phenotype.

Hennekam RC. Hennekam RC. Am J Med Genet A. 2006 Dec 1;140(23):2603-24. doi: 10.1002/ajmg.a.31346. Am J Med Genet A. 2006. PMID: 16838330 Review.

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