de Ravel T - Search Results

1

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: de ravel t, de smedt m. 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

2

Maternal origin of extra haploid set of chromosomes in third trimester triploid fetuses.

Dietzsch E, Ramsay M, Christianson AL, Henderson BD, de Ravel TJ. Dietzsch E, et al. Among authors: de ravel tj. Am J Med Genet. 1995 Sep 25;58(4):360-4. doi: 10.1002/ajmg.1320580412. Am J Med Genet. 1995. PMID: 8533847

3

Lethal neonatal mandibuloacral dysplasia.

Seftel MD, Wright CA, Po PL, de Ravel TJ. Seftel MD, et al. Among authors: de ravel tj. Am J Med Genet. 1996 Dec 2;66(1):52-4. doi: 10.1002/(SICI)1096-8628(19961202)66:1<52::AID-AJMG11>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8957511

4

Tetra-amelia and splenogonadal fusion in Roberts syndrome.

de Ravel TJ, Seftel MD, Wright CA. de Ravel TJ, et al. Am J Med Genet. 1997 Jan 20;68(2):185-9. doi: 10.1002/(sici)1096-8628(19970120)68:2<185::aid-ajmg13>3.0.co;2-q. Am J Med Genet. 1997. PMID: 9028456

5

Idiopathic multicentric osteolysis presents early and is not linked to chromosome 18q21.1.

De Ravel TJ, Matthijs G, Holvoet M, Wouters C, Legius E, Fryns JP. De Ravel TJ, et al. J Med Genet. 2000 Nov;37(11):E34. doi: 10.1136/jmg.37.11.e34. J Med Genet. 2000. PMID: 11073543 Free PMC article. No abstract available.

6

Possible isochromosome 22 leading to trisomy 22.

Manasse BF, Pfaffenzeller WM, Gurtunca N, de Ravel TJ. Manasse BF, et al. Among authors: de ravel tj. Am J Med Genet. 2000 Dec 18;95(5):411-4. doi: 10.1002/1096-8628(20001218)95:5<411::aid-ajmg1>3.0.co;2-q. Am J Med Genet. 2000. PMID: 11146458

7

An unbalanced translocation 46,XX,+der(18)t(18;21)(q12.2;q11.2)mat,-21 associated with maternal isodisomy 18pter-->18q12.2.

de Ravel TJ, Matthijs G, Fryns J. de Ravel TJ, et al. Ann Genet. 2001 Apr-Jun;44(2):63-6. doi: 10.1016/s0003-3995(01)01045-0. Ann Genet. 2001. PMID: 11522242

8

Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor.

de Ravel TJ, Legius E, Brems H, Van Hoestenberghe R, Gillis PH, Fryns JP. de Ravel TJ, et al. Clin Dysmorphol. 2001 Oct;10(4):263-7. doi: 10.1097/00019605-200110000-00005. Clin Dysmorphol. 2001. PMID: 11666000

9

The ICF syndrome: new case and update.

De Ravel TJ, Deckers E, Alliet PL, Petit P, Fryns JP. De Ravel TJ, et al. Genet Couns. 2001;12(4):379-85. Genet Couns. 2001. PMID: 11837609 Review.

10

Human homologues of Osr1 and Osr2 are not involved in a syndrome with distal limb deficiencies, oral abnormalities, and renal defects.

Debeer P, de Ravel TJ, Devriendt K, Fryns JP, Huysmans C, Van de Ven WJ. Debeer P, et al. Among authors: de ravel tj. Am J Med Genet. 2002 Sep 1;111(4):455-6. doi: 10.1002/ajmg.10583. Am J Med Genet. 2002. PMID: 12210313 No abstract available.

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