Fryns JP - Search Results

1

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.

2

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

3

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

4

The ICF syndrome: new case and update.

De Ravel TJ, Deckers E, Alliet PL, Petit P, Fryns JP. De Ravel TJ, et al. Among authors: fryns jp. Genet Couns. 2001;12(4):379-85. Genet Couns. 2001. PMID: 11837609 Review.

5

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

6

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

7

Trisomy 3q2 and Pierre-Robin sequence in a boy with unbalanced 46,XY, der(10), t(3;10)(q23;q26.3) de novo karyotype.

Kleczkowska A, Fryns JP, Moerman F, Martens M, Eggermont E, Jaeken J, Van den Berghe H. Kleczkowska A, et al. Among authors: fryns jp. Helv Paediatr Acta. 1988 Nov;43(3):245-8. Helv Paediatr Acta. 1988. PMID: 3220792

8

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

9

The C20orf133 gene is disrupted in a patient with Kabuki syndrome.

Maas NM, Van de Putte T, Melotte C, Francis A, Schrander-Stumpel CT, Sanlaville D, Genevieve D, Lyonnet S, Dimitrov B, Devriendt K, Fryns JP, Vermeesch JR. Maas NM, et al. Among authors: fryns jp. J Med Genet. 2007 Sep;44(9):562-9. doi: 10.1136/jmg.2007.049510. Epub 2007 Jun 23. J Med Genet. 2007. PMID: 17586838 Free PMC article.

10

Apparent late-onset Cockayne syndrome and interstitial deletion of the long arm of chromosome 10 (del(10)(q11.23q21.2)).

Fryns JP, Bulcke J, Verdu P, Carton H, Kleczkowska A, Van den Berghe H. Fryns JP, et al. Am J Med Genet. 1991 Sep 1;40(3):343-4. doi: 10.1002/ajmg.1320400320. Am J Med Genet. 1991. PMID: 1951442

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