Hennekam RC - Search Results

1

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.

2

Genetic heterogeneity in tuberous sclerosis.

Janssen LA, Sandkuyl LA, Merkens EC, Maat-Kievit JA, Sampson JR, Fleury P, Hennekam RC, Grosveld GC, Lindhout D, Halley DJ. Janssen LA, et al. Among authors: hennekam rc. Genomics. 1990 Oct;8(2):237-42. doi: 10.1016/0888-7543(90)90277-2. Genomics. 1990. PMID: 1979047

3

Haspeslagh syndrome without severe mental retardation and pterygia?

van Bever Y, Hennekam RC. van Bever Y, et al. Among authors: hennekam rc. Clin Genet. 1995 May;47(5):263-6. doi: 10.1111/j.1399-0004.1995.tb04308.x. Clin Genet. 1995. PMID: 7554353

4

Isolated macrodactyly or extremely localized Proteus syndrome?

van Bever Y, Hennekam RC. van Bever Y, et al. Among authors: hennekam rc. Clin Dysmorphol. 1994 Oct;3(4):351-2. Clin Dysmorphol. 1994. PMID: 7894741

5

Acromicric dysplasia and geleophysic dysplasia: similarities and differences.

Hennekam RC, van Bever Y, Oorthuys JW. Hennekam RC, et al. Eur J Pediatr. 1996 Apr;155(4):311-4. doi: 10.1007/BF02002719. Eur J Pediatr. 1996. PMID: 8777926

6

Autosomal dominant familial radial luxation, carpal fusion and scapular dysplasia with variable heart defects.

van Bever Y, Dijkstra PF, Hennekam RC. van Bever Y, et al. Among authors: hennekam rc. Am J Med Genet. 1996 Oct 28;65(3):213-7. doi: 10.1002/(SICI)1096-8628(19961028)65:3<213::AID-AJMG8>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 9240746

7

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

8

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

9

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.

10

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

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