Thiry P - Search Results

1

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.

Claes L, Ceulemans B, Audenaert D, Smets K, Löfgren A, Del-Favero J, Ala-Mello S, Basel-Vanagaite L, Plecko B, Raskin S, Thiry P, Wolf NI, Van Broeckhoven C, De Jonghe P. Claes L, et al. Among authors: thiry p. Hum Mutat. 2003 Jun;21(6):615-21. doi: 10.1002/humu.10217. Hum Mutat. 2003. PMID: 12754708

2

Severe myoclonic epilepsy in infancy: toward an optimal treatment.

Ceulemans B, Boel M, Claes L, Dom L, Willekens H, Thiry P, Lagae L. Ceulemans B, et al. Among authors: thiry p. J Child Neurol. 2004 Jul;19(7):516-21. doi: 10.1177/08830738040190070701. J Child Neurol. 2004. PMID: 15526956

3

Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1).

Fryns JP, Kleczkowska A, Smeets E, Thiry P, Geutjens J, Van den Berghe H. Fryns JP, et al. Among authors: thiry p. Am J Med Genet. 1990 Dec;37(4):546-7. doi: 10.1002/ajmg.1320370425. Am J Med Genet. 1990. PMID: 2260606

4

Follow-up of adult males with chromosome 18p deletion.

de Ravel TJ, Thiry P, Fryns JP. de Ravel TJ, et al. Among authors: thiry p. Eur J Med Genet. 2005 Apr-Jun;48(2):189-93. doi: 10.1016/j.ejmg.2005.01.024. Epub 2005 Feb 17. Eur J Med Genet. 2005. PMID: 16053911 Review.

5

Ectomorphic habitus, severe mental retardation and characteristic face: a new MCA/MR syndrome?

Fryns JP, Smeets E, Thiry P, Geutjens J, Vinken L, Van den Berghe H. Fryns JP, et al. Among authors: thiry p. Am J Med Genet. 1994 Jan 1;49(1):91-3. doi: 10.1002/ajmg.1320490117. Am J Med Genet. 1994. PMID: 8172258

6

Profound mental retardation, characteristic facies with midfacial hypoplasia and premature frontotemporal balding, muscular hypotrophy, and small patellae in two unrelated male patients.

Fryns JP, Thiry P, Geutjens J, Smeets E, Vinken L, Van den Berghe H. Fryns JP, et al. Among authors: thiry p. J Med Genet. 1993 Apr;30(4):319-21. doi: 10.1136/jmg.30.4.319. J Med Genet. 1993. PMID: 8487281 Free PMC article.

7

Macrocephaly and mental retardation. The unique association with short stature, spastic paraplegia and CNS malformations.

Volcke P, Soekarman D, Vandenbussche P, Haegeman J, Smeets E, Thiry P, Fryns JP. Volcke P, et al. Among authors: thiry p. Genet Couns. 1993;4(1):47-50. Genet Couns. 1993. PMID: 8471221

8

Fryns syndrome: another example of non-lethal outcome with severe mental handicap.

Hanssen AM, Schrander-Stumpel CT, Thiry PA, Fryns JP. Hanssen AM, et al. Among authors: thiry pa. Genet Couns. 1992;3(4):187-93. Genet Couns. 1992. PMID: 1472353

9

Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome.

de Ravel TJ, Balikova I, Thiry P, Vermeesch JR, Frijns JP. de Ravel TJ, et al. Among authors: thiry p. Eur J Med Genet. 2009 Mar-Jun;52(2-3):120-2. doi: 10.1016/j.ejmg.2009.01.002. Epub 2009 Jan 22. Eur J Med Genet. 2009. PMID: 19284984

10

Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills.

Denayer A, Van Esch H, de Ravel T, Frijns JP, Van Buggenhout G, Vogels A, Devriendt K, Geutjens J, Thiry P, Swillen A. Denayer A, et al. Among authors: thiry p. Mol Syndromol. 2012 Jun;3(1):14-20. doi: 10.1159/000339119. Epub 2012 May 16. Mol Syndromol. 2012. PMID: 22855650 Free PMC article.

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