Fryns JP - 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: fryns jp. 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

MURCS association with duplicated thumb.

López AG, Fryns JP, Devriendt K. López AG, et al. Among authors: fryns jp. 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.

3

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: fryns jp. 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

4

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: fryns jp. Clin Genet. 2002 Nov;62(5):415-7. doi: 10.1034/j.1399-0004.2002.620511.x. Clin Genet. 2002. PMID: 12431259

5

Autosomal dominant isolated velopharyngeal insufficiency.

Vantrappen G, Rommel N, Wellens W, Cremers CW, Fryns JP, Devriendt K. Vantrappen G, et al. Among authors: fryns jp. Clin Genet. 2002 Jan;61(1):74-6. doi: 10.1034/j.1399-0004.2002.610115.x. Clin Genet. 2002. PMID: 11903361 No abstract available.

6

Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly.

Chabchoub E, de Ravel T, Thoelen R, Vermeesch JR, Fryns JP, Van Esch H. Chabchoub E, et al. Among authors: fryns jp. Clin Genet. 2006 Dec;70(6):535-7. doi: 10.1111/j.1399-0004.2006.00718.x. Clin Genet. 2006. PMID: 17101002 No abstract available.

7

Involvement of a palindromic chromosome 22-specific low-copy repeat in a constitutional t(X; 22)(q27;q11).

Debeer P, Mols R, Huysmans C, Devriendt K, Van de Ven WJ, Fryns JP. Debeer P, et al. Among authors: fryns jp. Clin Genet. 2002 Nov;62(5):410-4. doi: 10.1034/j.1399-0004.2002.620510.x. Clin Genet. 2002. PMID: 12431258

8

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.

Laumonnier F, Holbert S, Ronce N, Faravelli F, Lenzner S, Schwartz CE, Lespinasse J, Van Esch H, Lacombe D, Goizet C, Phan-Dinh Tuy F, van Bokhoven H, Fryns JP, Chelly J, Ropers HH, Moraine C, Hamel BC, Briault S. Laumonnier F, et al. Among authors: fryns jp. J Med Genet. 2005 Oct;42(10):780-6. doi: 10.1136/jmg.2004.029439. J Med Genet. 2005. PMID: 16199551 Free PMC article.

9

Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).

Debeer P, Van Esch H, Huysmans C, Pijkels E, De Smet L, Van de Ven W, Devriendt K, Fryns JP. Debeer P, et al. Among authors: fryns jp. Eur J Med Genet. 2005 Oct-Dec;48(4):377-87. doi: 10.1016/j.ejmg.2005.05.003. Eur J Med Genet. 2005. PMID: 16378922

10

DISC1 duplication in two brothers with autism and mild mental retardation.

Crepel A, Breckpot J, Fryns JP, De la Marche W, Steyaert J, Devriendt K, Peeters H. Crepel A, et al. Among authors: fryns jp. Clin Genet. 2010 Apr;77(4):389-94. doi: 10.1111/j.1399-0004.2009.01318.x. Epub 2009 Dec 10. Clin Genet. 2010. PMID: 20002455

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

1,311 results

Search Page

Filters