Smeets E - Search Results

1

Acrocentric/18p translocation in two mentally retarded males. Delineation of the adult phenotype.

Fryns JP, Kleczkowska A, Vinken L, Geutjens J, Smeets E, Van den Berghe H. Fryns JP, et al. Among authors: smeets e. Ann Genet. 1986;29(2):107-11. Ann Genet. 1986. PMID: 3490204

2

Proximal trisomy 13q and distal monosomy 8p in a dysmorphic and mentally retarded patient with an isodicentric chromosome 13q and a 13q/8p translocation chromosome.

Lukusa T, van den Berghe L, Smeets E, Fryns JP. Lukusa T, et al. Among authors: smeets e. Ann Genet. 1999;42(4):215-20. Ann Genet. 1999. PMID: 10674161

3

Transmission of ring chromosome 18 46,XX/46,XX,r(18) mosaicism in a mother and ring chromosome 18 syndrome in her son.

Fryns JP, Kleczkowska A, Smeets E, Van Den Berghe H. Fryns JP, et al. Among authors: smeets e. Ann Genet. 1992;35(2):121-3. Ann Genet. 1992. PMID: 1524410

4

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: smeets e. Am J Med Genet. 1990 Dec;37(4):546-7. doi: 10.1002/ajmg.1320370425. Am J Med Genet. 1990. PMID: 2260606

5

Wolf-Hirschhorn syndrome with cryptic 4p16.3 deletion and balanced/unbalanced mosaicism in the mother.

Fryns JP, Smeets E, Devriendt K, Petit P. Fryns JP, et al. Among authors: smeets e. Ann Genet. 1998;41(2):73-6. Ann Genet. 1998. PMID: 9706336

6

Distal 11q deletion: a specific clinical entity.

Fryns JP, Kleczkowska A, Smeets E, Van den Berghe H. Fryns JP, et al. Among authors: smeets e. Helv Paediatr Acta. 1987 Oct;42(2-3):191-4. Helv Paediatr Acta. 1987. PMID: 3692885

7

Melkersson-Rosenthal syndrome and de novo autosomal t(9;21)(p11;p11) translocation.

Smeets E, Fryns JP, Van den Berghe H. Smeets E, et al. Clin Genet. 1994 Jun;45(6):323-4. doi: 10.1111/j.1399-0004.1994.tb04041.x. Clin Genet. 1994. PMID: 7923865

8

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: smeets e. Am J Med Genet. 1994 Jan 1;49(1):91-3. doi: 10.1002/ajmg.1320490117. Am J Med Genet. 1994. PMID: 8172258

9

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: smeets e. 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.

10

The Floating-Harbor syndrome: report of another patient and differential diagnosis with Shprintzen syndrome.

Smeets E, Fryns JP, Van den Berghe H. Smeets E, et al. Genet Couns. 1996;7(2):143-6. Genet Couns. 1996. PMID: 8831134

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