Hennekam RC - Search Results

1

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

2

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.

Breuning MH, Dauwerse HG, Fugazza G, Saris JJ, Spruit L, Wijnen H, Tommerup N, van der Hagen CB, Imaizumi K, Kuroki Y, van den Boogaard MJ, de Pater JM, Mariman EC, Hamel BC, Himmelbauer H, Frischauf AM, Stallings R, Beverstock GC, van Ommen GJ, Hennekam RC. Breuning MH, et al. Among authors: hennekam rc. Am J Hum Genet. 1993 Feb;52(2):249-54. Am J Hum Genet. 1993. PMID: 8430691 Free PMC article.

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

A boy with a cleft lip and palate, tritubercular incisors, and finger anomaly.

Hennekam RC, Van der Horst CM. Hennekam RC, et al. Clin Dysmorphol. 1996 Oct;5(4):303-5. Clin Dysmorphol. 1996. PMID: 8905194

7

Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19.

O'Quinn JR, Hennekam RC, Jorde LB, Bamshad M. O'Quinn JR, et al. Among authors: hennekam rc. Am J Hum Genet. 1998 Jan;62(1):130-5. doi: 10.1086/301687. Am J Hum Genet. 1998. PMID: 9443880 Free PMC article.

8

Angelman syndrome without detectable chromosome 15q11-13 anomaly: clinical study of familial and isolated cases.

Laan LA, Halley DJ, den Boer AT, Hennekam RC, Renier WO, Brouwer OF. Laan LA, et al. Among authors: hennekam rc. Am J Med Genet. 1998 Mar 19;76(3):262-8. Am J Med Genet. 1998. PMID: 9508247 Review.

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

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.

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