Hennekam RC - Search Results

1

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

2

Aplasia cutis congenita reminiscent of the lines of Blaschko.

Hennekam RC. Hennekam RC. Hum Genet. 1992 Dec;90(4):469-71. doi: 10.1007/BF00220481. Hum Genet. 1992. PMID: 1483708

3

DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63).

van den Ouweland AM, van der Est MN, Wesby-van Swaay E, Tijmensen TS, Los FJ, Van Hemel JO, Hennekam RC, Meijers-Heijboer HJ, Niermeijer MF, Halley DJ. van den Ouweland AM, et al. Among authors: hennekam rc. Hum Genet. 1995 May;95(5):562-7. doi: 10.1007/BF00223870. Hum Genet. 1995. PMID: 7759079

4

Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.

Hennekam RC, Tilanus M, Hamel BC, Voshart-van Heeren H, Mariman EC, van Beersum SE, van den Boogaard MJ, Breuning MH. Hennekam RC, et al. Am J Hum Genet. 1993 Feb;52(2):255-62. Am J Hum Genet. 1993. PMID: 8430692 Free PMC article.

5

EEC syndrome and genitourinary anomalies: an update.

Maas SM, de Jong TP, Buss P, Hennekam RC. Maas SM, et al. Among authors: hennekam rc. Am J Med Genet. 1996 Jun 14;63(3):472-8. doi: 10.1002/(SICI)1096-8628(19960614)63:3<472::AID-AJMG11>3.0.CO;2-J. Am J Med Genet. 1996. PMID: 8737655 Review.

6

Angelman syndrome in an inbred family.

Beuten J, Hennekam RC, Van Roy B, Mangelschots K, Sutcliffe JS, Halley DJ, Hennekam FA, Beaudet AL, Willems PJ. Beuten J, et al. Among authors: hennekam rc, hennekam fa. Hum Genet. 1996 Mar;97(3):294-8. doi: 10.1007/BF02185757. Hum Genet. 1996. PMID: 8786067 Free article.

7

Further delineation of the partial proximal trisomy 10q syndrome.

Aalfs CM, Hoovers JM, Nieste-Otter MA, Mannens MM, Hennekam RC, Leschot NJ. Aalfs CM, et al. Among authors: hennekam rc. J Med Genet. 1995 Dec;32(12):968-71. doi: 10.1136/jmg.32.12.968. J Med Genet. 1995. PMID: 8825926 Free PMC article.

8

Some patients with intracranial aneurysms have a reduced type III/type I collagen ratio. A case-control study.

van den Berg JS, Limburg M, Pals G, Arwert F, Westerveld A, Hennekam RC, Albrecht KW. van den Berg JS, et al. Among authors: hennekam rc. Neurology. 1997 Dec;49(6):1546-51. doi: 10.1212/wnl.49.6.1546. Neurology. 1997. PMID: 9409344

9

Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome.

van Asperen CJ, Overweg-Plandsoen WC, Cnossen MH, van Tijn DA, Hennekam RC. van Asperen CJ, et al. Among authors: hennekam rc. J Med Genet. 1998 Apr;35(4):323-7. doi: 10.1136/jmg.35.4.323. J Med Genet. 1998. PMID: 9598729 Free PMC article.

10

[Genes and genetics in Hirschsprung's disease].

Maas SM, Brooks AS, Hennekam RC, Heydendael VM, Wijburg FA, Hofstra RM. Maas SM, et al. Among authors: hennekam rc. Ned Tijdschr Geneeskd. 1999 Jun 26;143(26):1352-6. Ned Tijdschr Geneeskd. 1999. PMID: 10416491 Review. Dutch.

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