Hennekam RC - Search Results

1

The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients.

Hopman SM, Merks JH, de Borgie CA, Aalfs CM, Biesecker LG, Cole T, Eng C, Legius E, Maher ER, van Noesel MM, Verloes A, Viskochil DH, Wagner A, Weksberg R, Caron HN, Hennekam RC. Hopman SM, et al. Among authors: hennekam rc. Eur J Cancer. 2013 Oct;49(15):3247-54. doi: 10.1016/j.ejca.2013.06.015. Epub 2013 Jul 12. Eur J Cancer. 2013. PMID: 23855994 Free PMC article.

2

The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia.

Aalfs CM, van den Berg H, Barth PG, Hennekam RC. Aalfs CM, et al. Among authors: hennekam rc. Eur J Pediatr. 1995 Apr;154(4):304-8. doi: 10.1007/BF01957367. Eur J Pediatr. 1995. PMID: 7607282

3

Differences between the Hoyeraal-Hreidarsson syndrome and an autosomal recessive congenital intrauterine infection-like syndrome.

Aalfs CM, Hennekam RC. Aalfs CM, et al. Among authors: hennekam rc. Am J Med Genet. 1995 Sep 25;58(4):385. doi: 10.1002/ajmg.1320580423. Am J Med Genet. 1995. PMID: 8533857 No abstract available.

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

Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance: confirmation of a syndrome?

Aalfs CM, Oosterwijk JC, van Schooneveld MJ, Begeman CJ, Wabeke KB, Hennekam RC. Aalfs CM, et al. Among authors: hennekam rc. Clin Dysmorphol. 1996 Apr;5(2):93-103. doi: 10.1097/00019605-199604000-00001. Clin Dysmorphol. 1996. PMID: 8723559

6

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.

7

Further delineation of the acro-renal-ocular syndrome.

Aalfs CM, van Schooneveld MJ, van Keulen EM, Hennekam RC. Aalfs CM, et al. Among authors: hennekam rc. Am J Med Genet. 1996 Mar 29;62(3):276-81. doi: 10.1002/(SICI)1096-8628(19960329)62:3<276::AID-AJMG14>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8882787

8

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

9

Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.

Deutz-Terlouw PP, Losekoot M, Aalfs CM, Hennekam RC, Bakker E. Deutz-Terlouw PP, et al. Among authors: hennekam rc. Hum Mutat. 1998;Suppl 1:S62-5. doi: 10.1002/humu.1380110122. Hum Mutat. 1998. PMID: 9452043 No abstract available.

10

Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype.

Bijlsma EK, Aalfs CM, Sluitjer S, Oude Luttikhuis ME, Trembath RC, Hoovers JM, Hennekam RC. Bijlsma EK, et al. Among authors: hennekam rc. J Med Genet. 1999 Aug;36(8):604-9. J Med Genet. 1999. PMID: 10465110 Free PMC article.

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