Hennekam RC - Search Results

1

Primrose syndrome: Characterization of the phenotype in 42 patients.

Melis D, Carvalho D, Barbaro-Dieber T, Espay AJ, Gambello MJ, Gener B, Gerkes E, Hitzert MM, Hove HB, Jansen S, Jira PE, Lachlan K, Menke LA, Narayanan V, Ortiz D, Overwater E, Posmyk R, Ramsey K, Rossi A, Sandoval RL, Stumpel C, Stuurman KE, Cordeddu V, Turnpenny P, Strisciuglio P, Tartaglia M, Unger S, Waters T, Turnbull C, Hennekam RC. Melis D, et al. Among authors: hennekam rc. Clin Genet. 2020 Jun;97(6):890-901. doi: 10.1111/cge.13749. Epub 2020 Apr 20. Clin Genet. 2020. PMID: 32266967 Free PMC article.

2

The Peters'-Plus syndrome: description of 16 patients and review of the literature.

Hennekam RC, Van Schooneveld MJ, Ardinger HH, Van Den Boogaard MJ, Friedburg D, Rudnik-Schoneborn S, Seguin JH, Weatherstone KB, Wittebol-Post D, Meinecke P. Hennekam RC, et al. Clin Dysmorphol. 1993 Oct;2(4):283-300. Clin Dysmorphol. 1993. PMID: 7508316 Review.

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

Two supernumerary marker chromosomes, derived from chromosome 6 and 9, in a boy with mild developmental delay.

Aalfs CM, Jacobs ME, Nieste-Otter MA, Hennekam RC, Hoovers JM. Aalfs CM, et al. Among authors: hennekam rc. Clin Genet. 1996 Jan;49(1):42-5. doi: 10.1111/j.1399-0004.1996.tb04323.x. Clin Genet. 1996. PMID: 8721571

5

Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization.

van Langen IM, Otter MA, Aronson DC, Overweg-Plandsoen WC, Hennekam RC, Leschot NJ, Hoovers JM. van Langen IM, et al. Among authors: hennekam rc. Clin Genet. 1996 Jan;49(1):49-53. doi: 10.1111/j.1399-0004.1996.tb04325.x. Clin Genet. 1996. PMID: 8721573

6

Partial deletion of 18p and partial duplication of 18q caused by a paternal pericentric inversion.

Israëls T, Hoovers J, Turpijn HM, Wijburg FA, Hennekam RC. Israëls T, et al. Among authors: hennekam rc. Clin Genet. 1996 Dec;50(6):520-4. doi: 10.1111/j.1399-0004.1996.tb02726.x. Clin Genet. 1996. PMID: 9147887 Review.

7

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L, Duran M, Jira PE, Smeitink JA, Wevers RA, Wanders RJ. Waterham HR, et al. Among authors: hennekam rc. Am J Hum Genet. 1998 Aug;63(2):329-38. doi: 10.1086/301982. Am J Hum Genet. 1998. PMID: 9683613 Free PMC article.

8

Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.

Jira PE, Wanders RJ, Smeitink JA, De Jong J, Wevers RA, Oostheim W, Tuerlings JH, Hennekam RC, Sengers RC, Waterham HR. Jira PE, et al. Among authors: hennekam rc. Ann Hum Genet. 2001 May;65(Pt 3):229-36. doi: 10.1017/S0003480001008600. Ann Hum Genet. 2001. PMID: 11427181

9

Genotype-phenotype correlation in patients suspected of having Sotos syndrome.

de Boer L, Kant SG, Karperien M, van Beers L, Tjon J, Vink GR, van Tol D, Dauwerse H, le Cessie S, Beemer FA, van der Burgt I, Hamel BC, Hennekam RC, Kuhnle U, Mathijssen IB, Veenstra-Knol HE, Stumpel CT, Breuning MH, Wit JM. de Boer L, et al. Among authors: hennekam rc. Horm Res. 2004;62(4):197-207. doi: 10.1159/000081063. Epub 2004 Sep 24. Horm Res. 2004. PMID: 15452385 Free article.

10

Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience.

Bhuiyan ZA, Klein M, Hammond P, van Haeringen A, Mannens MM, Van Berckelaer-Onnes I, Hennekam RC. Bhuiyan ZA, et al. Among authors: hennekam rc. J Med Genet. 2006 Jul;43(7):568-75. doi: 10.1136/jmg.2005.038240. Epub 2005 Oct 19. J Med Genet. 2006. PMID: 16236812 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

593 results

Search Page