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Results: 1-12 |
Results: 12
FAILURE OF TESTICULAR DEVELOPMENT ASSOCIATED WITH A REARRANGEMENT OF 9P24.1 PROXIMAL TO THE SNF2 GENE
Authors: ION R TELVI L CHAUSSAIN JL BARBET JP NUNES M SAFAR A RETHORE MO FELLOUS M MCELREAVEY K
Citation: R. Ion et al., FAILURE OF TESTICULAR DEVELOPMENT ASSOCIATED WITH A REARRANGEMENT OF 9P24.1 PROXIMAL TO THE SNF2 GENE, Human genetics, 102(2), 1998, pp. 151-156
GONADAL FAILURE IN A 46,XY SUBJECT HARBORING AN APPARENTLY BALANCED (6-8)(Q26-8Q13) TRANSLOCATION
Authors: ION A COPIN H BARNOUX M AJZEMBERG C LUBETZKI J TELVI L
Citation: A. Ion et al., GONADAL FAILURE IN A 46,XY SUBJECT HARBORING AN APPARENTLY BALANCED (6-8)(Q26-8Q13) TRANSLOCATION, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 232-232
45,X 46,XY MOSAICISM - A CLINICAL REVIEW OF 27 CASES/
Authors: LEBBAR A DELPINO O BARBET P CHAUSSAIN JL TELVI L
Citation: A. Lebbar et al., 45,X 46,XY MOSAICISM - A CLINICAL REVIEW OF 27 CASES/, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 243-243
THE POSSIBLE IMPLICATION OF RARE AUTOSOMAL FRAGILE SITES IN MENTAL-RETARDATION - STUDY OF 9 FAMILIES
Authors: TELVI L DUPUY O ION R FEINGOLD J PONSOT G
Citation: L. Telvi et al., THE POSSIBLE IMPLICATION OF RARE AUTOSOMAL FRAGILE SITES IN MENTAL-RETARDATION - STUDY OF 9 FAMILIES, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 285-285
A DUPLICATION OF DISTAL XP ASSOCIATED WITH HYPOGONADOTROPIC HYPOGONADISM, HYPOPLASTIC EXTERNAL GENITALIA, MENTAL-RETARDATION, AND MULTIPLE CONGENITAL-ABNORMALITIES
Authors: TELVI L ION A CAREL JC DESGUERRE I PIRAUD M BOUTIN AM FEINGOLD J PONSOT G FELLOUS M MCELREAVEY K
Citation: L. Telvi et al., A DUPLICATION OF DISTAL XP ASSOCIATED WITH HYPOGONADOTROPIC HYPOGONADISM, HYPOPLASTIC EXTERNAL GENITALIA, MENTAL-RETARDATION, AND MULTIPLE CONGENITAL-ABNORMALITIES, Journal of Medical Genetics, 33(9), 1996, pp. 767-771
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
Authors: ION A TELVI L CHAUSSAIN JL GALACTEROS F VALAYER J FELLOUS M MCELREAVEY K
Citation: A. Ion et al., 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, American journal of human genetics, 58(6), 1996, pp. 1185-1191
TESTICULAR DEVELOPMENT IN AN SRY-NEGATIVE 46,XX INDIVIDUAL HARBORING A DISTAL XP DELETION
Authors: TAR A SOLYOM J GYORVARI B ION A TELVI L BARBAUX S SOULEYREAU N VILAIN E FELLOUS M MCELREAVEY K
Citation: A. Tar et al., TESTICULAR DEVELOPMENT IN AN SRY-NEGATIVE 46,XX INDIVIDUAL HARBORING A DISTAL XP DELETION, Human genetics, 96(4), 1995, pp. 464-468
GONADAL-DYSGENESIS IN DEL(18P) SYNDROME
Authors: TELVI L BERNHEIM A ION A FOUQUET F LEBOUC Y CHAUSSAIN JL
Citation: L. Telvi et al., GONADAL-DYSGENESIS IN DEL(18P) SYNDROME, American journal of medical genetics, 57(4), 1995, pp. 598-600
A MALE TO FEMALE AUTOSOMAL SEX-REVERSING LOCUS AT DISTAL 9P
Authors: ION A TELVI L NUNES M RETHORE MO CHAUSSAIN JL FELLOUS M MCELREAVEY K
Citation: A. Ion et al., A MALE TO FEMALE AUTOSOMAL SEX-REVERSING LOCUS AT DISTAL 9P, American journal of human genetics, 57(4), 1995, pp. 653-653
DELETIONS OF YQ11 ASSOCIATED WITH INFERTILITY, SHORT STATURE AND THE TURNER-SYNDROME - TENTATIVE MAPPING OF A REGION ASSOCIATED WITH TURNERSTIGMATA TO PROXIMAL INTERVAL-5
Authors: MCELREAVEY K BARBAUX S VILAIN E ION R TELVI L FELLOUS M
Citation: K. Mcelreavey et al., DELETIONS OF YQ11 ASSOCIATED WITH INFERTILITY, SHORT STATURE AND THE TURNER-SYNDROME - TENTATIVE MAPPING OF A REGION ASSOCIATED WITH TURNERSTIGMATA TO PROXIMAL INTERVAL-5, Cytogenetics and cell genetics, 67(4), 1994, pp. 391-392
IS RETT-SYNDROME A CHROMOSOME BREAKAGE SYNDROME
Authors: TELVI L LEBOYER M CHIRON C FEINGOLD J PONSOT G
Citation: L. Telvi et al., IS RETT-SYNDROME A CHROMOSOME BREAKAGE SYNDROME, American journal of medical genetics, 51(4), 1994, pp. 602-605
FRA(16)(Q21) IN A FAMILY WITH 4 SPONTANEOUS-ABORTIONS
Authors: TELVI L LOCHU P
Citation: L. Telvi et P. Lochu, FRA(16)(Q21) IN A FAMILY WITH 4 SPONTANEOUS-ABORTIONS, Clinical genetics, 44(5), 1993, pp. 272-272
Risultati: 1-12 |