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Results: 1-13 |
Results: 13
ANALYSIS OF DOMAINS AFFECTING INTRACELLULAR-LOCALIZATION OF THE FMRP PROTEIN
Authors: BARDONI B SITTLER A SHEN Y MANDEL JL
Citation: B. Bardoni et al., ANALYSIS OF DOMAINS AFFECTING INTRACELLULAR-LOCALIZATION OF THE FMRP PROTEIN, Neurobiology of disease, 4(5), 1997, pp. 329-336
A TRANSCRIPTIONAL SILENCING DOMAIN IN DAX-1 WHOSE MUTATION CAUSES ADRENAL HYPOPLASIA CONGENITA
Authors: LALLI E BARDONI B ZAZOPOULOS E WURTZ JM STROM TM MORAS D SASSONECORSI P
Citation: E. Lalli et al., A TRANSCRIPTIONAL SILENCING DOMAIN IN DAX-1 WHOSE MUTATION CAUSES ADRENAL HYPOPLASIA CONGENITA, Molecular endocrinology, 11(13), 1997, pp. 1950-1960
MECHANISMS OF Y-CHROMOSOME REARRANGEMENTS AND RELATED PHENOTYPES
Authors: ZUFFARDI O CAMERINO G ARRIGO G GIGLIO S BARDONI B
Citation: O. Zuffardi et al., MECHANISMS OF Y-CHROMOSOME REARRANGEMENTS AND RELATED PHENOTYPES, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 60-60
MULTIPLE CONGENITAL-ANOMALIES, BRAIN HYPOMYELINATION, AND OCULAR ALBINISM IN A FEMALE WITH DUP(X)(PTER-]Q24--Q21.32-]QTER) AND RANDOM X-INACTIVATION
Authors: CARROZZO R ARRIGO G ROSSI E BARDONI B CAMMARATA M GANDULLIA P GATTI R ZUFFARDI O
Citation: R. Carrozzo et al., MULTIPLE CONGENITAL-ANOMALIES, BRAIN HYPOMYELINATION, AND OCULAR ALBINISM IN A FEMALE WITH DUP(X)(PTER-]Q24--Q21.32-]QTER) AND RANDOM X-INACTIVATION, American journal of medical genetics, 72(3), 1997, pp. 329-334
XP DUPLICATIONS AND SEX REVERSAL
Authors: ZANARIA E BARDONI B DABOVIC B CALVARI V FRACCARO M ZUFFARDI O CAMERINO G
Citation: E. Zanaria et al., XP DUPLICATIONS AND SEX REVERSAL, Philosophical transactions-Royal Society of London. Biological sciences, 350(1333), 1995, pp. 291-296
A FAMILY OF RAPIDLY EVOLVING GENES FROM THE SEX REVERSAL CRITICAL REGION IN XP21
Authors: DABOVIC B ZANARIA E BARDONI B LISA A BORDIGNON C RUSSO V MATESSI C TRAVERSARI C CAMERINO G
Citation: B. Dabovic et al., A FAMILY OF RAPIDLY EVOLVING GENES FROM THE SEX REVERSAL CRITICAL REGION IN XP21, Mammalian genome, 6(9), 1995, pp. 571-580
DICENTRIC CHROMOSOME-Y ASSOCIATED WITH LEYDIG-CELL AGENESIS AND SEX REVERSAL
Authors: GENUARDI M BARDONI B FLORIDIA G CHIURAZZI P SCARANO G ZOLLINO M GARCEA N MARTININERI ME NERI G
Citation: M. Genuardi et al., DICENTRIC CHROMOSOME-Y ASSOCIATED WITH LEYDIG-CELL AGENESIS AND SEX REVERSAL, Clinical genetics, 47(1), 1995, pp. 38-41
2 NOVEL SRY MISSENSE MUTATIONS REDUCING DNA-BINDING IDENTIFIED IN XY FEMALES AND THEIR MOSAIC FATHERS
Authors: SCHMITTNEY M THIELE H KALTWASSER P BARDONI B CISTERNINO M SCHERER G
Citation: M. Schmittney et al., 2 NOVEL SRY MISSENSE MUTATIONS REDUCING DNA-BINDING IDENTIFIED IN XY FEMALES AND THEIR MOSAIC FATHERS, American journal of human genetics, 56(4), 1995, pp. 862-869
A DOSAGE SENSITIVE LOCUS AT CHROMOSOME XP21 IS INVOLVED IN MALE TO FEMALE SEX REVERSAL
Authors: BARDONI B ZANARIA E GUIOLI S FLORIDIA G WORLEY KC TONINI G FERRANTE E CHIUMELLO G MCCABE ERB FRACCARO M ZUFFARDI O CAMERINO G
Citation: B. Bardoni et al., A DOSAGE SENSITIVE LOCUS AT CHROMOSOME XP21 IS INVOLVED IN MALE TO FEMALE SEX REVERSAL, Nature genetics, 7(4), 1994, pp. 497-501
A LOCUS INVOLVED IN SEX DETERMINATION IN XP21
Authors: ZANARIA E BARDONI B GUIOLI S WORLEY K MCCABE E FRACCARO M ZUFFARDI O CAMERINO G
Citation: E. Zanaria et al., A LOCUS INVOLVED IN SEX DETERMINATION IN XP21, Cytogenetics and cell genetics, 67(4), 1994, pp. 332-333
AN UNUSUAL MEMBER OF THE NUCLEAR HORMONE-RECEPTOR SUPERFAMILY RESPONSIBLE FOR X-LINKED ADRENAL HYPOPLASIA CONGENITA
Authors: ZANARIA E MUSCATELLI F BARDONI B STROM TM GUIOLI S GUO WW LALLI E MOSER C WALKER AP MCCABE ERB MEITINGER T MONACO AP SASSONECORSI P CAMERINO G
Citation: E. Zanaria et al., AN UNUSUAL MEMBER OF THE NUCLEAR HORMONE-RECEPTOR SUPERFAMILY RESPONSIBLE FOR X-LINKED ADRENAL HYPOPLASIA CONGENITA, Nature, 372(6507), 1994, pp. 635-641
MUTATIONS IN THE DAX-1 GENE GIVE RISE TO BOTH X-LINKED ADRENAL HYPOPLASIA CONGENITA AND HYPOGONADOTROPIC HYPOGONADISM
Authors: MUSCATELLI F STROM TM WALKER AP ZANARIA E RECAN D MEINDL A BARDONI B GUIOLI S ZEHETNER G RABL W SCHWARZ HP KAPLAN JC CAMERINO G MEITINGER T MONACO AP
Citation: F. Muscatelli et al., MUTATIONS IN THE DAX-1 GENE GIVE RISE TO BOTH X-LINKED ADRENAL HYPOPLASIA CONGENITA AND HYPOGONADOTROPIC HYPOGONADISM, Nature, 372(6507), 1994, pp. 672-676
FUNCTIONAL DISOMY OF XP22-PTER IN 3 MALES CARRYING A PORTION OF XP TRANSLOCATED TO YQ
Authors: BARDONI B FLORIDIA G GUIOLI S PEVERALI G ANICHINI C CISTERNINO M CASALONE R DANESINO C FRACCARO M ZUFFARDI O CAMERINO G
Citation: B. Bardoni et al., FUNCTIONAL DISOMY OF XP22-PTER IN 3 MALES CARRYING A PORTION OF XP TRANSLOCATED TO YQ, Human genetics, 91(4), 1993, pp. 333-338
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