Fryns JP - Search Results

1

Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications.

Swillen A, Vogels A, Devriendt K, Fryns JP. Swillen A, et al. Among authors: fryns jp. Am J Med Genet. 2000 Summer;97(2):128-35. doi: 10.1002/1096-8628(200022)97:2<128::aid-ajmg4>3.0.co;2-z. Am J Med Genet. 2000. PMID: 11180220 Review.

2

Interstitial 6q deletion: clinical and array CGH characterisation of a new patient.

Le Caignec C, Swillen A, Van Asche E, Fryns JP, Vermeesch JR. Le Caignec C, et al. Among authors: fryns jp. Eur J Med Genet. 2005 Jul-Sep;48(3):339-45. doi: 10.1016/j.ejmg.2005.04.010. Eur J Med Genet. 2005. PMID: 16179229

3

Motor development in school-aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome).

Van Aken K, De Smedt B, Van Roie A, Gewillig M, Devriendt K, Fryns JP, Simons J, Swillen A. Van Aken K, et al. Among authors: fryns jp. Dev Med Child Neurol. 2007 Mar;49(3):210-3. doi: 10.1111/j.1469-8749.2007.00210.x. Dev Med Child Neurol. 2007. PMID: 17355478 Free article.

4

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.

5

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.

Thienpont B, Béna F, Breckpot J, Philip N, Menten B, Van Esch H, Scalais E, Salamone JM, Fong CT, Kussmann JL, Grange DK, Gorski JL, Zahir F, Yong SL, Morris MM, Gimelli S, Fryns JP, Mortier G, Friedman JM, Villard L, Bottani A, Vermeesch JR, Cheung SW, Devriendt K. Thienpont B, et al. Among authors: fryns jp. J Med Genet. 2010 Mar;47(3):155-61. doi: 10.1136/jmg.2009.070573. Epub 2009 Oct 14. J Med Genet. 2010. PMID: 19833603

6

Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome.

Backx L, Fryns JP, Marcelis C, Devriendt K, Vermeesch J, Van Esch H. Backx L, et al. Among authors: fryns jp. Am J Med Genet A. 2010 Feb;152A(2):319-26. doi: 10.1002/ajmg.a.33202. Am J Med Genet A. 2010. PMID: 20082458

7

Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani--Lenz-like non-syndromic oligosyndactyly.

Dimitrov BI, Voet T, De Smet L, Vermeesch JR, Devriendt K, Fryns JP, Debeer P. Dimitrov BI, et al. Among authors: fryns jp. J Med Genet. 2010 Aug;47(8):569-74. doi: 10.1136/jmg.2009.073833. Epub 2010 Jul 7. J Med Genet. 2010. PMID: 20610440

8

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.

Dimitrov B, Balikova I, de Ravel T, Van Esch H, De Smedt M, Baten E, Vermeesch JR, Bradinova I, Simeonov E, Devriendt K, Fryns JP, Debeer P. Dimitrov B, et al. Among authors: fryns jp. J Med Genet. 2011 Feb;48(2):98-104. doi: 10.1136/jmg.2010.079491. Epub 2010 Nov 10. J Med Genet. 2011. PMID: 21068127

9

Glypican 1 gene: good candidate for brachydactyly type E.

Syrrou M, Keymolen K, Devriendt K, Holvoet M, Thoelen R, Verhofstadt K, Fryns JP. Syrrou M, et al. Among authors: fryns jp. Am J Med Genet. 2002 Apr 1;108(4):310-4. doi: 10.1002/ajmg.10266. Am J Med Genet. 2002. PMID: 11920836

10

Molecular analysis of the isochromosome 12P in the Pallister-Killian syndrome. Construction of a mouse-human hybrid cell line containing an i(12p) as the sole human chromosome.

Zhang J, Marynen P, Devriendt K, Fryns JP, Van den Berghe H, Cassiman JJ. Zhang J, et al. Among authors: fryns jp. Hum Genet. 1989 Nov;83(4):359-63. doi: 10.1007/BF00291381. Hum Genet. 1989. PMID: 2807276

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

1,311 results

Search Page