Fryns JP - Search Results

1

The Kabuki make-up (Niikawa-Kuroki) syndrome and isolated transient hyperphosphatasemia.

Devriendt K, Fryns JP. Devriendt K, et al. Among authors: fryns jp. Clin Genet. 1994 Jun;45(6):330-1. doi: 10.1111/j.1399-0004.1994.tb04043.x. Clin Genet. 1994. PMID: 7923866 No abstract available.

2

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.

3

Alopecia-mental retardation syndrome associated with convulsions and hypergonadotropic hypogonadism.

Devriendt K, Van den Berghe H, Fryns JP. Devriendt K, et al. Among authors: fryns jp. Clin Genet. 1996 Jan;49(1):6-9. doi: 10.1111/j.1399-0004.1996.tb04316.x. Clin Genet. 1996. PMID: 8721564

4

Cohen syndrome: the clinical symptoms and stigmata at a young age.

Fryns JP, Legius E, Devriendt K, Meire F, Standaert L, Baten E, Van den Berghe H. Fryns JP, et al. Clin Genet. 1996 May;49(5):237-41. doi: 10.1111/j.1399-0004.1996.tb03780.x. Clin Genet. 1996. PMID: 8832131

5

Large congenital follicular ovarian cyst in a girl with Kabuki syndrome.

Devriendt K, Van den Berghe H, Fryns JP, Van Reempst P. Devriendt K, et al. Among authors: fryns jp. Am J Med Genet. 1996 Oct 2;65(1):90-91. doi: 10.1002/ajmg.1320650104. Am J Med Genet. 1996. PMID: 8914748 No abstract available.

6

Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father. Clinical variability of 22q11 deletion.

Devriendt K, Van Hoestenberghe R, Van Hole C, Devlieger H, Gewillig M, Moerman P, Van den Berghe H, Fryns JP. Devriendt K, et al. Among authors: fryns jp. Clin Genet. 1997 Apr;51(4):246-9. doi: 10.1111/j.1399-0004.1997.tb02463.x. Clin Genet. 1997. PMID: 9184246

7

Hypoplastic claviculae in the Kabuki (Niikawa-Kuroki) syndrome.

Fryns JP, Devriendt K. Fryns JP, et al. Genet Couns. 1998;9(1):57-8. Genet Couns. 1998. PMID: 9555590 No abstract available.

8

Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and retinal dystrophy.

Fryns JP, Van Lingen C, Devriendt K, Legius E, Raus P. Fryns JP, et al. J Med Genet. 1998 Apr;35(4):333-5. doi: 10.1136/jmg.35.4.333. J Med Genet. 1998. PMID: 9598731 Free PMC article.

9

Oto-onycho-peroneal syndrome: confirmation of a syndrome.

Devriendt K, Stoffelen D, Pfeiffer R, Leys A, Fryns JP. Devriendt K, et al. Among authors: fryns jp. J Med Genet. 1998 Jun;35(6):508-9. doi: 10.1136/jmg.35.6.508. J Med Genet. 1998. PMID: 9643295 Free PMC article.

10

Deletion in chromosome region 22q11 in a child with CHARGE association.

Devriendt K, Swillen A, Fryns JP. Devriendt K, et al. Among authors: fryns jp. Clin Genet. 1998 May;53(5):408-10. doi: 10.1111/j.1399-0004.1998.tb02755.x. Clin Genet. 1998. PMID: 9660062

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