Hennekam RC - Search Results

1

Mutations in ZBTB20 cause Primrose syndrome.

Cordeddu V, Redeker B, Stellacci E, Jongejan A, Fragale A, Bradley TE, Anselmi M, Ciolfi A, Cecchetti S, Muto V, Bernardini L, Azage M, Carvalho DR, Espay AJ, Male A, Molin AM, Posmyk R, Battisti C, Casertano A, Melis D, van Kampen A, Baas F, Mannens MM, Bocchinfuso G, Stella L, Tartaglia M, Hennekam RC. Cordeddu V, et al. Among authors: hennekam rc. Nat Genet. 2014 Aug;46(8):815-7. doi: 10.1038/ng.3035. Epub 2014 Jul 13. Nat Genet. 2014. PMID: 25017102

2

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP.

Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, Masuno M, Tommerup N, van Ommen GJ, Goodman RH, Peters DJ, et al. Petrij F, et al. Among authors: hennekam rc. Nature. 1995 Jul 27;376(6538):348-51. doi: 10.1038/376348a0. Nature. 1995. PMID: 7630403

3

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.

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

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.

6

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.

Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, Ballabio A. Quaderi NA, et al. Among authors: hennekam rc. Nat Genet. 1997 Nov;17(3):285-91. doi: 10.1038/ng1197-285. Nat Genet. 1997. PMID: 9354791 Free article.

7

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.

8

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.

Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, Newbury-Ecob R, Hennekam RC, Van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H. Celli J, et al. Among authors: hennekam rc. Cell. 1999 Oct 15;99(2):143-53. doi: 10.1016/s0092-8674(00)81646-3. Cell. 1999. PMID: 10535733 Free article.

9

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

10

Further delineation of the chromosome 14q terminal deletion syndrome.

van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC. van Karnebeek CD, et al. Among authors: hennekam rc. Am J Med Genet. 2002 Jun 1;110(1):65-72. doi: 10.1002/ajmg.10207. Am J Med Genet. 2002. PMID: 12116274 Review.

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