Aalfs CM - Search Results

1

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. 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

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. 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. 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. 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. Clin Dysmorphol. 1996 Apr;5(2):93-103. doi: 10.1097/00019605-199604000-00001. Clin Dysmorphol. 1996. PMID: 8723559

6

[Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism].

Aalfs CM, Hennekam RC, Wanders RJ, Jira PE, Pilon JW, Wijburg FA. Aalfs CM, et al. Ned Tijdschr Geneeskd. 1996 Jul 13;140(28):1463-6. Ned Tijdschr Geneeskd. 1996. PMID: 8766772 Dutch.

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. 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

Further delineation of the acro-renal-ocular syndrome.

Aalfs CM, van Schooneveld MJ, van Keulen EM, Hennekam RC. Aalfs CM, et al. 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

9

Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts.

Putnam EA, Park ES, Aalfs CM, Hennekam RC, Milewicz DM. Putnam EA, et al. Among authors: aalfs cm. Am J Hum Genet. 1997 Apr;60(4):818-27. Am J Hum Genet. 1997. PMID: 9106527 Free PMC article.

10

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: aalfs cm. Hum Mutat. 1998;Suppl 1:S62-5. doi: 10.1002/humu.1380110122. Hum Mutat. 1998. PMID: 9452043 No abstract available.

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