Van den Berghe H - Search Results

1

Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1).

Fryns JP, Kleczkowska A, Smeets E, Thiry P, Geutjens J, Van den Berghe H. Fryns JP, et al. Among authors: van den berghe h. Am J Med Genet. 1990 Dec;37(4):546-7. doi: 10.1002/ajmg.1320370425. Am J Med Genet. 1990. PMID: 2260606

2

46,XX/46,XX,del(20)(pter-->p12.2) mosaicism limited to fibroblasts associated with MCA/MR and severe growth deficit.

Fryns JP, Kleczkowska A, Decock P, Massa G, van den Berghe H. Fryns JP, et al. Among authors: van den berghe h. Ann Genet. 1992;35(4):234-6. Ann Genet. 1992. PMID: 1296522

3

Severe pre- and postnatal growth retardation, developmental delay with hypotonia and marked hypotrophy of the distal extremities, dental anomalies, and eczematous skin. A new autosomal recessive entity.

Grubben C, de Cock P, Borghgraef M, van den Berghe H, Fryns JP. Grubben C, et al. Among authors: van den berghe h. Clin Genet. 1992 Jan;41(1):16-21. doi: 10.1111/j.1399-0004.1992.tb03621.x. Clin Genet. 1992. PMID: 1378778

4

Rieger syndrome and interstitial 4q26 deletion.

Fryns JP, Van Den Berghe H. Fryns JP, et al. Among authors: van den berghe h. Genet Couns. 1992;3(3):153-4. Genet Couns. 1992. PMID: 1388934 No abstract available.

5

Unknown syndrome: nasal hypoplasia, sparse hair, truncal obesity, genital hypoplasia, and severe mental retardation.

Fryns JP, Delooz J, Van Den Berghe H. Fryns JP, et al. Among authors: van den berghe h. J Med Genet. 1992 Sep;29(9):676-7. doi: 10.1136/jmg.29.9.676. J Med Genet. 1992. PMID: 1404303 Free PMC article.

6

Occipital scalp defect associated with valvular pulmonary stenosis. A new entity?

Fryns JP, de Cock P, van den Berghe H. Fryns JP, et al. Among authors: van den berghe h. Clin Genet. 1992 Aug;42(2):97-9. doi: 10.1111/j.1399-0004.1992.tb03147.x. Clin Genet. 1992. PMID: 1424238

7

Posterior scalp defects in Opitz syndrome. Another symptom related to a defect in midline development.

Fryns JP, Delooz J, van den Berghe H. Fryns JP, et al. Among authors: van den berghe h. Clin Genet. 1992 Dec;42(6):314-6. doi: 10.1111/j.1399-0004.1992.tb03263.x. Clin Genet. 1992. PMID: 1493644

8

Minimal dysmorphic stigmata in 9q deletion of paternal origin.

Kleczkowska A, Fryns JP, Lemli L, Van den Berghe H. Kleczkowska A, et al. Among authors: van den berghe h. Genet Couns. 1992;3(1):49-52. Genet Couns. 1992. PMID: 1590981

9

MASA syndrome: delineation of the clinical spectrum at prepubertal age.

Fryns JP, Schrander-Stumpel C, De Die-Smulders C, Borghgraef M, Van den Berghe H. Fryns JP, et al. Among authors: van den berghe h. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):402-7. doi: 10.1002/ajmg.1320430161. Am J Med Genet. 1992. PMID: 1605218

10

Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia?

Spaepen A, Schrander-Stumpel C, Fryns JP, de Die-Smulders C, Borghgraef M, Van den Berghe H. Spaepen A, et al. Among authors: van den berghe h. Am J Med Genet. 1991 Dec 15;41(4):517-20. doi: 10.1002/ajmg.1320410428. Am J Med Genet. 1991. PMID: 1663704

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