Schaap C - Search Results

1

Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion.

Van Hemel JO, Schaap C, Van Opstal D, Mulder MP, Niermeijer MF, Meijers JH. Van Hemel JO, et al. Among authors: schaap c. J Med Genet. 1995 Aug;32(8):657-8. doi: 10.1136/jmg.32.8.657. J Med Genet. 1995. PMID: 7473663 Free PMC article.

2

Cri du chat syndrome: changing phenotype in older patients.

Van Buggenhout GJ, Pijkels E, Holvoet M, Schaap C, Hamel BC, Fryns JP. Van Buggenhout GJ, et al. Among authors: schaap c. Am J Med Genet. 2000 Jan 31;90(3):203-15. doi: 10.1002/(sici)1096-8628(20000131)90:3<203::aid-ajmg5>3.0.co;2-a. Am J Med Genet. 2000. PMID: 10678657

3

Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome?

Janssen HC, Schaap C, Vandevijver N, Moerman P, de Die-Smulders CE, Fryns JP. Janssen HC, et al. Among authors: schaap c. J Med Genet. 1999 Jun;36(6):481-4. J Med Genet. 1999. PMID: 10874639 Free PMC article. Review.

4

Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly.

Schaap C, Schrander-Stumpel CT, Fryns JP. Schaap C, et al. Genet Couns. 1992;3(4):209-15. Genet Couns. 1992. PMID: 1472356 Review.

5

A genetic diagnostic survey in an institutionalized population of 116 moderately to severely retarded male patients: the Rekem experience.

Schaap C, Schrander-Stumpel CT, Colla-Pijkels ET, Van Driessche J, Kusters R, Fryns JP. Schaap C, et al. Genet Couns. 1995;6(3):251-8. Genet Couns. 1995. PMID: 8588855

6

Severe progressive neurological disorder associated with hydrocephalus in a man with fragile X syndrome.

Schaap C, Fryns JP. Schaap C, et al. Am J Med Genet. 1994 Jul 15;51(4):403-4. doi: 10.1002/ajmg.1320510420. Am J Med Genet. 1994. PMID: 7943007 No abstract available.

7

McKusick-Kaufman syndrome: the diagnostic challenge of abdominal distension in the neonatal period.

Schaap C, de Die-Smulders CE, Kuijten RH, Fryns JP. Schaap C, et al. Eur J Pediatr. 1992 Aug;151(8):583-5. doi: 10.1007/BF01957727. Eur J Pediatr. 1992. PMID: 1505577

8

Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes: are they related?

Schaap C, ten Tusscher MP, Schrander JJ, Kuijten RH, Schrander-Stumpel CT. Schaap C, et al. Eur J Pediatr. 1998 Feb;157(2):170-1. Eur J Pediatr. 1998. PMID: 9504798 No abstract available.

9

Predictive DNA testing for multiple endocrine neoplasia 2: a therapeutic challenge of prophylactic thyroidectomy in very young children.

van Heurn LW, Schaap C, Sie G, Haagen AA, Gerver WJ, Freling G, van Amstel HK, Heineman E. van Heurn LW, et al. Among authors: schaap c. J Pediatr Surg. 1999 Apr;34(4):568-71. doi: 10.1016/s0022-3468(99)90075-1. J Pediatr Surg. 1999. PMID: 10235324

10

Three mildly retarded siblings with congenital cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature: a new syndrome?

Schaap C, Taylor D, Baraitser M. Schaap C, et al. Clin Dysmorphol. 1995 Oct;4(4):283-8. doi: 10.1097/00019605-199510000-00002. Clin Dysmorphol. 1995. PMID: 8574417

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