Fryns JP - Search Results

1

X-linked mental retardation with Marfanoid habitus: a changing phenotype with age?

Fryns JP, Van Den Berghe H. Fryns JP, et al. Genet Couns. 1991;2(4):241-4. Genet Couns. 1991. PMID: 1799424

2

Trisomy of the short arm of chromosome 4: the changing phenotype with age.

Kleczkowska A, Fryns JP, van den Berghe H. Kleczkowska A, et al. Among authors: fryns jp. Ann Genet. 1992;35(4):217-23. Ann Genet. 1992. PMID: 1296518 Review.

3

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. Ann Genet. 1992;35(4):234-6. Ann Genet. 1992. PMID: 1296522

4

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: fryns jp. Clin Genet. 1992 Jan;41(1):16-21. doi: 10.1111/j.1399-0004.1992.tb03621.x. Clin Genet. 1992. PMID: 1378778

5

Hypomelanosis of Ito and severe sensorineural deafness.

Fryns JP, Dereymaeker AM, Van Den Berghe H. Fryns JP, et al. Genet Couns. 1992;3(3):149-51. Genet Couns. 1992. PMID: 1388933

6

Rieger syndrome and interstitial 4q26 deletion.

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

7

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. 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.

8

Pfeiffer acrocephalosyndactyly syndrome in mother and son with cloverleaf skull anomaly in the child.

Soekarman D, Fryns JP, van den Berghe H. Soekarman D, et al. Among authors: fryns jp. Genet Couns. 1992;3(4):217-20. Genet Couns. 1992. PMID: 1472357

9

The cardio-facio-cutaneous (CFC) syndrome: autosomal dominant inheritance in a large family.

Fryns JP, Volcke P, Van den Berghe H. Fryns JP, et al. Genet Couns. 1992;3(1):19-24. Genet Couns. 1992. PMID: 1590976

10

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: fryns jp. Genet Couns. 1992;3(1):49-52. Genet Couns. 1992. PMID: 1590981

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