L Telvi
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Explore the profile of L Telvi including associated specialties, affiliations and a list of published articles.
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24
Citations
138
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Recent Articles
1.
Ion A, Copin H, Barnoux M, Ajzenberg C, Lesoud A, Cussenot O, et al.
J Med Genet
. 2001 Feb;
37(12):972-4.
PMID: 11186944
No abstract available.
2.
Gogusev J, de Joliniere J, Telvi L, Doussau M, Du Manoir S, Stojkoski A, et al.
Mol Hum Reprod
. 2000 Aug;
6(9):821-7.
PMID: 10956554
Comparative genomic hybridization (CGH) was used in parallel with fluorescence in-situ hybridization (FISH) and conventional karyotyping to perform a genome-wide survey of DNA gains and losses in the endometriosis-derived permanent...
3.
Calabrese G, Telvi L, Capodiferro F, Morizio E, Pizzuti A, Stuppia L, et al.
Eur J Hum Genet
. 2000 Jun;
8(5):319-24.
PMID: 10854090
Duane syndrome (MIM 126800) is an autosomal dominant disorder characterised by primary strabismus and other ocular anomalies, associated with variable deficiency of binocular sight. We have recently identified a <...
4.
Gogusev J, de Joliniere J, Telvi L, Doussau M, Stojkoski A, Levardon M
J Soc Gynecol Investig
. 2000 Apr;
7(2):79-87.
PMID: 10785606
For many years, endometriosis has been an enigmatic and confusing disorder, but there have been recent contributions to the subject, provided by modern techniques in cellular and molecular biology, regarding...
5.
Gogusev J, de Joliniere J, Telvi L, Doussau M, Du Manoir S, Stojkoski A, et al.
Hum Genet
. 1999 Dec;
105(5):444-51.
PMID: 10598811
Endometriosis is characterized by infertility and pelvic pain in 10-15% of women of reproductive age. The genetic events involved in endometriotic cell expansion remain in large part unknown. To identify...
6.
Telvi L, Lebbar A, Del Pino O, Barbet J, Chaussain J
Pediatrics
. 1999 Aug;
104(2 Pt 1):304-8.
PMID: 10429013
Objectives: There exist substantial differences between prenatally and postnatally diagnosed cases of 45,X/46,XY mosaicism. Ninety percent of prenatally diagnosed cases show a normal male phenotype, whereas the postnatally diagnosed cases...
7.
Ion R, Telvi L, Chaussain J, Barbet J, Nunes M, Safar A, et al.
Hum Genet
. 1998 Apr;
102(2):151-6.
PMID: 9521582
In 46,XY individuals, testes are determined by the activity of the SRY gene (sex-determining region Y), located on the short arm of the Y chromosome. The other genetic components of...
8.
Telvi L, Ion A, Carel J, Desguerre I, Piraud M, Boutin A, et al.
J Med Genet
. 1996 Sep;
33(9):767-71.
PMID: 8880579
An unusual familial case of three sibs with a partial duplication of distal Xp sequences is described. The proband, an 18 year old boy, showed mental retardation, severe dysmorphic features,...
9.
Ion A, Telvi L, Chaussain J, Galacteros F, Valayer J, Fellous M, et al.
Am J Hum Genet
. 1996 Jun;
58(6):1185-91.
PMID: 8651295
We describe a pedigree presenting X-linked severe mental retardation associated with multiple congenital abnormalities and 46,XY gonadal dysgenesis, leading in one family member to female gender assignment. Female carriers are...
10.
Tar A, Solyom J, Gyorvari B, Ion A, Telvi L, Barbaux S, et al.
Hum Genet
. 1995 Oct;
96(4):464-8.
PMID: 7557971
A case of a true hermaphrodite presenting with a karyotype of 46,X,del(X)(p21.1-->pter) is described. The testis-determining gene, SRY, was not detected in DNA prepared from either peripheral blood lymphocytes or...