Telvi L - Search Results

1

Failure of testicular development associated with a rearrangement of 9p24.1 proximal to the SNF2 gene.

Ion R, Telvi L, Chaussain JL, Barbet JP, Nunes M, Safar A, Réthoré MO, Fellous M, McElreavey K. Ion R, et al. Among authors: telvi l. Hum Genet. 1998 Feb;102(2):151-6. doi: 10.1007/s004390050669. Hum Genet. 1998. PMID: 9521582

2

Gonadal dysgenesis in del(18p) syndrome.

Telvi L, Bernheim A, Ion A, Fouquet F, Le Bouc Y, Chaussain JL. Telvi L, et al. Am J Med Genet. 1995 Jul 17;57(4):598-600. doi: 10.1002/ajmg.1320570416. Am J Med Genet. 1995. PMID: 7573136

3

A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome.

Ion A, Telvi L, Chaussain JL, Galacteros F, Valayer J, Fellous M, McElreavey K. Ion A, et al. Among authors: telvi l. Am J Hum Genet. 1996 Jun;58(6):1185-91. Am J Hum Genet. 1996. PMID: 8651295 Free PMC article.

4

A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.

Telvi L, Ion A, Carel JC, Desguerre I, Piraud M, Boutin AM, Feingold J, Ponsot G, Fellous M, McElreavey K. Telvi L, et al. J Med Genet. 1996 Sep;33(9):767-71. doi: 10.1136/jmg.33.9.767. J Med Genet. 1996. PMID: 8880579 Free PMC article.

5

De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome.

Telvi L, Pinard JM, Ion R, Sinet PM, Nicole A, Feingold J, Dulac O, Pompidou A, Ponsot G. Telvi L, et al. J Med Genet. 1992 Oct;29(10):747-9. doi: 10.1136/jmg.29.10.747. J Med Genet. 1992. PMID: 1433240 Free PMC article.

6

Segregation of three reciprocal translocations in the same family: t(3;4), t(5;10), and t(15;21).

Telvi L, Folhen M, Raoul O, Feingold J, Ponsot G, Pompidou A, Rethoré MO, Lejeune J. Telvi L, et al. Am J Med Genet. 1992 Mar 1;42(5):716-9. doi: 10.1002/ajmg.1320420518. Am J Med Genet. 1992. PMID: 1632445

7

45,X/46,XY mosaicism: report of 27 cases.

Telvi L, Lebbar A, Del Pino O, Barbet JP, Chaussain JL. Telvi L, et al. Pediatrics. 1999 Aug;104(2 Pt 1):304-8. doi: 10.1542/peds.104.2.304. Pediatrics. 1999. PMID: 10429013

8

Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion.

Tar A, Sólyom J, Györvári B, Ion A, Telvi L, Barbaux S, Souleyreau N, Vilain E, Fellous M, McElreavey K. Tar A, et al. Among authors: telvi l. Hum Genet. 1995 Oct;96(4):464-8. doi: 10.1007/BF00191807. Hum Genet. 1995. PMID: 7557971

9

Detection of DNA copy number changes in human endometriosis by comparative genomic hybridization.

Gogusev J, Bouquet de Jolinière J, Telvi L, Doussau M, du Manoir S, Stojkoski A, Levardon M. Gogusev J, et al. Among authors: telvi l. Hum Genet. 1999 Nov;105(5):444-51. doi: 10.1007/s004390051129. Hum Genet. 1999. PMID: 10598811

10

Pure proximal deletion of chromosome 21 and kyphosis.

Keren B, Bernardin C, Toutain A, Heron D, Fouquet B, Laudier B, Telvi L, Romana SP, Vekemans M, Sanlaville D. Keren B, et al. Among authors: telvi l. Eur J Med Genet. 2007 Nov-Dec;50(6):469-74. doi: 10.1016/j.ejmg.2007.08.001. Epub 2007 Aug 15. Eur J Med Genet. 2007. PMID: 17890169

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