Fryns JP - Search Results

1

Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene.

Jaeken J, Goemans N, Fryns JP, François I, de Zegher F. Jaeken J, et al. Among authors: fryns jp. J Inherit Metab Dis. 1996;19(3):275-7. doi: 10.1007/BF01799254. J Inherit Metab Dis. 1996. PMID: 8803768

2

Opitz C syndrome and pseudohypoaldosteronism.

De Koster J, Legius E, de Zegher F, Devlieger H, Fryns JP, Eggermont E. De Koster J, et al. Among authors: fryns jp. Am J Med Genet. 1990 Dec;37(4):457-9. doi: 10.1002/ajmg.1320370405. Am J Med Genet. 1990. PMID: 2175542

3

Complex chromosomal rearrangement involving chromosomes 11, 13 and 21.

Kleczkowska A, Fryns JP, Jaeken J, Van den Berghe H. Kleczkowska A, et al. Among authors: fryns jp. Ann Genet. 1988;31(2):126-8. Ann Genet. 1988. PMID: 3261149

4

Phosphoserine phosphatase deficiency in a patient with Williams syndrome.

Jaeken J, Detheux M, Fryns JP, Collet JF, Alliet P, Van Schaftingen E. Jaeken J, et al. Among authors: fryns jp. J Med Genet. 1997 Jul;34(7):594-6. doi: 10.1136/jmg.34.7.594. J Med Genet. 1997. PMID: 9222972 Free PMC article.

5

Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1-->q35 due to maternal ins(14;2) translocation.

Lukusa T, Devriendt K, Jaeken J, Fryns JP. Lukusa T, et al. Among authors: fryns jp. Clin Dysmorphol. 1999 Jan;8(1):47-51. Clin Dysmorphol. 1999. PMID: 10327251

6

Anterior basal encephalocele in the median cleft face syndrome. Comments on nosology and treatment.

Grubben C, Fryns JP, De Zegher F, Van Den Berghe H. Grubben C, et al. Among authors: fryns jp. Genet Couns. 1990;1(2):103-9. Genet Couns. 1990. PMID: 2080994

7

Restrictive dermopathy with distinct morphological abnormalities.

Van Hoestenberghe M, Legius E, Vandevoorde W, Eykens A, Jaeken J, Eggermont E, Devos R, De Wolf-Peeters C, Fryns JP. Van Hoestenberghe M, et al. Among authors: fryns jp. Am J Med Genet. 1990 Jul;36(3):297-300. doi: 10.1002/ajmg.1320360310. Am J Med Genet. 1990. PMID: 2363426

8

Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX,-13, +t(13;13)(p11;q11)/46,XX,del(13)(p11). A second example.

Fryns JP, Kleczkowska A, Jaeken J, Van Herck K, Van den Berghe MH. Fryns JP, et al. Ann Genet. 1989;32(3):177-9. Ann Genet. 1989. PMID: 2486064

9

Ring chromosome 4 mosaicism and Potter sequence.

Fryns JP, Kleczkowska A, Jaeken J, Van den Berghe H. Fryns JP, et al. Ann Genet. 1988;31(2):120-2. Ann Genet. 1988. PMID: 3261147

10

Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism.

Knopf C, Rod R, Jaeken J, Berant M, Van Schaftingen E, Fryns JP, Brill-Zamir R, Gershoni-Baruch R, Lischinsky S, Mandel H. Knopf C, et al. Among authors: fryns jp. J Inherit Metab Dis. 2000 Jun;23(4):399-403. doi: 10.1023/a:1005612120886. J Inherit Metab Dis. 2000. PMID: 10896304 No abstract available.

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