Hennekam RC - Search Results

1

Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.

Zhou X, Hampel H, Thiele H, Gorlin RJ, Hennekam RC, Parisi M, Winter RM, Eng C. Zhou X, et al. Among authors: hennekam rc. Lancet. 2001 Jul 21;358(9277):210-1. doi: 10.1016/s0140-6736(01)05412-5. Lancet. 2001. PMID: 11476841

2

PTEN mutations and proteus syndrome.

Eng C, Thiele H, Zhou XP, Gorlin RJ, Hennekam RC, Winter RM. Eng C, et al. Among authors: hennekam rc. Lancet. 2001 Dec 15;358(9298):2079-80. doi: 10.1016/S0140-6736(01)07110-0. Lancet. 2001. PMID: 11755639 No abstract available.

3

PTEN hamartoma tumour syndrome: variability of an entity.

Merks JH, de Vries LS, Zhou XP, Nikkels P, Barth PG, Eng C, Hennekam RC. Merks JH, et al. Among authors: hennekam rc. J Med Genet. 2003 Oct;40(10):e111. doi: 10.1136/jmg.40.10.e111. J Med Genet. 2003. PMID: 14569134 Free PMC article. No abstract available.

4

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. Among authors: hennekam rc. 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

5

Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience.

van Karnebeek CD, Koevoets C, Sluijter S, Bijlsma EK, Smeets DF, Redeker EJ, Hennekam RC, Hoovers JM. van Karnebeek CD, et al. Among authors: hennekam rc. J Med Genet. 2002 Aug;39(8):546-53. doi: 10.1136/jmg.39.8.546. J Med Genet. 2002. PMID: 12161591 Free PMC article.

6

Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product?

Aalfs CM, Fantes JA, Wenniger-Prick LJ, Sluijter S, Hennekam RC, van Heyningen V, Hoovers JM. Aalfs CM, et al. Among authors: hennekam rc. Am J Med Genet. 1997 Dec 19;73(3):267-71. doi: 10.1002/(sici)1096-8628(19971219)73:3<267::aid-ajmg7>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9415682

7

Smith-Lemli-Opitz syndrome diagnosed in a 130-year-old anatomical specimen.

Oostra RJ, Baljet B, Schutgens RB, Hennekam RC. Oostra RJ, et al. Among authors: hennekam rc. Am J Med Genet. 1997 Jan 31;68(3):257-9. doi: 10.1002/(sici)1096-8628(19970131)68:3<257::aid-ajmg2>3.0.co;2-j. Am J Med Genet. 1997. PMID: 9024555

8

Dermal eccrine cylindromatosis.

van Balkom ID, Hennekam RC. van Balkom ID, et al. Among authors: hennekam rc. J Med Genet. 1994 Apr;31(4):321-4. doi: 10.1136/jmg.31.4.321. J Med Genet. 1994. PMID: 8071959 Free PMC article. Review. No abstract available.

9

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.

10

Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. I: Syndromes with multiple congenital anomalies.

Oostra RJ, Baljet B, Dijkstra PF, Hennekam RC. Oostra RJ, et al. Among authors: hennekam rc. Am J Med Genet. 1998 May 1;77(2):100-15. Am J Med Genet. 1998. PMID: 9605284

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