Théophile D - Search Results

1

Upper limb malformations in DiGeorge syndrome.

Cormier-Daire V, Iserin L, Théophile D, Sidi D, Vervel C, Padovani JP, Vekemans M, Munnich A, Lyonnet S. Cormier-Daire V, et al. Among authors: theophile d. Am J Med Genet. 1995 Mar 13;56(1):39-41. doi: 10.1002/ajmg.1320560111. Am J Med Genet. 1995. PMID: 7747784

2

Absence of genomic imprinting at the DiGeorge locus.

Theophile D, Bérubé D, Augé J, Vekemans M. Theophile D, et al. Acta Genet Med Gemellol (Roma). 1996;45(1-2):277-80. doi: 10.1017/s0001566000001458. Acta Genet Med Gemellol (Roma). 1996. PMID: 8872046 No abstract available.

3

Interstitial duplication of the short arm of chromosome 2: report of a new case and review.

Mégarbané A, Souraty N, Prieur M, Theophile D, Chédid P, Augé J, Vekemans M. Mégarbané A, et al. Among authors: theophile d. J Med Genet. 1997 Sep;34(9):783-6. doi: 10.1136/jmg.34.9.783. J Med Genet. 1997. PMID: 9321771 Free PMC article. Review.

4

[Detection of chromosome anomalies using in situ hybridization on fetal tissue sections].

Cessot F, Theophile D, Beauvais AM, Delezoide AL, Vekemans M. Cessot F, et al. Among authors: theophile d. Ann Pathol. 1997 Sep;17(4):271-6. Ann Pathol. 1997. PMID: 9409887 French.

5

Trisomy for the distal segment of the short arm of chromosome 17 in a boy with mild mental retardation and some dysmorphic features.

Mégarbané A, Souraty N, Theophile D, Vekemans M, Samaras L, Ghorayeb Z. Mégarbané A, et al. Among authors: theophile d. Ann Genet. 1997;40(1):55-9. Ann Genet. 1997. PMID: 9150851

6

Incidence of sex chromosome abnormalities in spermatozoa from patients entering an IVF or ICSI protocol.

Storeng RT, Plachot M, Theophile D, Mandelbaum J, Belaisch-Allart J, Vekemans M. Storeng RT, et al. Among authors: theophile d. Acta Obstet Gynecol Scand. 1998 Feb;77(2):191-7. Acta Obstet Gynecol Scand. 1998. PMID: 9512326

7

No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21.

Pangalos C, Théophile D, Sinet PM, Marks A, Stamboulieh-Abazis D, Chettouh Z, Prieur M, Verellen C, Rethoré MO, Lejeune J, et al. Pangalos C, et al. Among authors: theophile d. Am J Hum Genet. 1992 Dec;51(6):1240-50. Am J Hum Genet. 1992. PMID: 1463008 Free PMC article.

8

Molecular mapping of twenty-four features of Down syndrome on chromosome 21.

Delabar JM, Theophile D, Rahmani Z, Chettouh Z, Blouin JL, Prieur M, Noel B, Sinet PM. Delabar JM, et al. Among authors: theophile d. Eur J Hum Genet. 1993;1(2):114-24. doi: 10.1159/000472398. Eur J Hum Genet. 1993. PMID: 8055322

9

Mapping of the Down syndrome phenotype on chromosome 21 at the molecular level.

Sinet PM, Théophile D, Rahmani Z, Chettouh Z, Blouin JL, Prieur M, Noel B, Delabar JM. Sinet PM, et al. Among authors: theophile d. Biomed Pharmacother. 1994;48(5-6):247-52. doi: 10.1016/0753-3322(94)90140-6. Biomed Pharmacother. 1994. PMID: 7999986

10

Mapping the Down syndrome chromosome region. Establishment of a YAC contig spanning 1.2 megabases.

Crété N, Gosset P, Théophile D, Duterque-Coquillaud M, Blouin JL, Vayssettes C, Sinet PM, Créau-Goldberg N. Crété N, et al. Among authors: theophile d. Eur J Hum Genet. 1993;1(1):51-63. doi: 10.1159/000472387. Eur J Hum Genet. 1993. PMID: 8069651

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