Devriendt K - Search Results

1

ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism.

Van Esch H, Poirier K, de Zegher F, Holvoet M, Bienvenu T, Chelly J, Devriendt K, Fryns JP. Van Esch H, et al. Among authors: devriendt k. Clin Genet. 2004 Jun;65(6):503-5. doi: 10.1111/j.1399-0004.2004.00256.x. Clin Genet. 2004. PMID: 15151512 No abstract available.

2

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

Devriendt K, Fryns JP. Devriendt K, et al. 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.

3

Severe mental retardation-distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a 10q25-->qter deletion.

Lukusa T, Devriendt K, Holvoet M, Fryns JP. Lukusa T, et al. Among authors: devriendt k. Clin Genet. 1998 Sep;54(3):224-30. doi: 10.1111/j.1399-0004.1998.tb04289.x. Clin Genet. 1998. PMID: 9788726 Review.

4

Partial DiGeorge syndrome in two patients with a 10p rearrangement.

Van Esch H, Groenen P, Daw S, Poffyn A, Holvoet M, Scambler P, Fryns JP, Van de Ven W, Devriendt K. Van Esch H, et al. Among authors: devriendt k. Clin Genet. 1999 Apr;55(4):269-76. doi: 10.1034/j.1399-0004.1999.550410.x. Clin Genet. 1999. PMID: 10361989

5

The Haspeslagh syndrome (MIM 177980) is caused by an unbalanced reciprocal 6q/9p translocation.

Devriendt K, Holvoet M, De Mûelenaere A, Fryns JP. Devriendt K, et al. Clin Genet. 2000 Jan;57(1):83-5. doi: 10.1034/j.1399-0004.2000.570113.x. Clin Genet. 2000. PMID: 10733241 No abstract available.

6

MURCS association with duplicated thumb.

López AG, Fryns JP, Devriendt K. López AG, et al. Among authors: devriendt k. Clin Genet. 2002 Apr;61(4):308-9. doi: 10.1034/j.1399-0004.2002.610412.x. Clin Genet. 2002. PMID: 12030898 No abstract available.

7

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

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

8

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

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

9

Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences.

Vermeesch JR, Baten E, Fryns JP, Devriendt K. Vermeesch JR, et al. Among authors: devriendt k. Clin Genet. 2002 Nov;62(5):415-7. doi: 10.1034/j.1399-0004.2002.620511.x. Clin Genet. 2002. PMID: 12431259

10

Novel PORCN mutations in focal dermal hypoplasia.

Froyen G, Govaerts K, Van Esch H, Verbeeck J, Tuomi ML, Heikkilä H, Torniainen S, Devriendt K, Fryns JP, Marynen P, Järvelä I, Ala-Mello S. Froyen G, et al. Among authors: devriendt k. Clin Genet. 2009 Dec;76(6):535-43. doi: 10.1111/j.1399-0004.2009.01248.x. Epub 2009 Oct 23. Clin Genet. 2009. PMID: 19863546

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