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Results: 1-17 |
Results: 17
PRENATAL-DIAGNOSIS OF A DER(X)T(X-15)(P22.2-Q11.2) INHERITED FROM A MATERNAL TRANSLOCATION X-15
Authors: GARCIAHERAS J ULM JE SHAVER DE HALL E SAIKEVYCH IA
Citation: J. Garciaheras et al., PRENATAL-DIAGNOSIS OF A DER(X)T(X-15)(P22.2-Q11.2) INHERITED FROM A MATERNAL TRANSLOCATION X-15, Prenatal diagnosis, 18(7), 1998, pp. 747-750
PRENATAL DETECTION OF A DELETION 22Q11 BY FISH
Authors: GARCIAHERAS J RAO PN STETTLER RW HUSLIG M SMART RL PETTENATI MJ
Citation: J. Garciaheras et al., PRENATAL DETECTION OF A DELETION 22Q11 BY FISH, Prenatal diagnosis, 18(4), 1998, pp. 411-413
CONSTITUTIONAL DEL(19)(Q12Q13.1) IN A 3-YEAR-OLD GIRL WITH SEVERE PHENOTYPIC ABNORMALITIES AFFECTING MULTIPLE ORGAN SYSTEMS
Authors: KULHARYA AS MICHAELIS RC NORRIS KS TAYLOR HA GARCIAHERAS J
Citation: As. Kulharya et al., CONSTITUTIONAL DEL(19)(Q12Q13.1) IN A 3-YEAR-OLD GIRL WITH SEVERE PHENOTYPIC ABNORMALITIES AFFECTING MULTIPLE ORGAN SYSTEMS, American journal of medical genetics, 77(5), 1998, pp. 391-394
PRENATAL-DIAGNOSIS OF A TRISOMY 17P DERIVED FROM A DE-NOVO NON-MOSAICSATELLITED MARKER
Authors: KULHARYA AS GARCIAHERAS J RADTKE HB NORRIS KS KEPPEN LD FLANNERY DB
Citation: As. Kulharya et al., PRENATAL-DIAGNOSIS OF A TRISOMY 17P DERIVED FROM A DE-NOVO NON-MOSAICSATELLITED MARKER, Clinical genetics, 54(5), 1998, pp. 421-425
FISH-DELETION MAPPING DEFINES A 270-KB SHORT STATURE CRITICAL INTERVAL IN THE PSEUDOAUTOSOMAL REGION PAR1 ON HUMAN SEX-CHROMOSOMES
Authors: RAO E WEISS B FUKAMI M MERTZ A MEDER J OGATA T HEINRICH U GARCIAHERAS J SCHIEBEL K RAPPOLD GA
Citation: E. Rao et al., FISH-DELETION MAPPING DEFINES A 270-KB SHORT STATURE CRITICAL INTERVAL IN THE PSEUDOAUTOSOMAL REGION PAR1 ON HUMAN SEX-CHROMOSOMES, Human genetics, 100(2), 1997, pp. 236-239
DE-NOVO DUPLICATION XQ23-]XQ26 OF PATERNAL ORIGIN IN A GIRL WITH A MILDLY AFFECTED PHENOTYPE
Authors: GARCIAHERAS J MARTIN JA DAY DW SCACHERI P WITCHEL SF
Citation: J. Garciaheras et al., DE-NOVO DUPLICATION XQ23-]XQ26 OF PATERNAL ORIGIN IN A GIRL WITH A MILDLY AFFECTED PHENOTYPE, American journal of medical genetics, 70(4), 1997, pp. 404-408
DE-NOVO DER(X)T(X-10) (Q26-Q21) WITH FEATURES OF DISTAL TRISOMY 10Q -CASE-REPORT OF PATERNAL ORIGIN IDENTIFIED BY LATE REPLICATION WITH BRDU AND THE HUMAN ANDROGEN RECEPTOR ASSAY (HAR)
Authors: GARCIAHERAS J MARTIN JA WITCHEL SF SCACHERI P
Citation: J. Garciaheras et al., DE-NOVO DER(X)T(X-10) (Q26-Q21) WITH FEATURES OF DISTAL TRISOMY 10Q -CASE-REPORT OF PATERNAL ORIGIN IDENTIFIED BY LATE REPLICATION WITH BRDU AND THE HUMAN ANDROGEN RECEPTOR ASSAY (HAR), Journal of Medical Genetics, 34(3), 1997, pp. 242-245
PRENATAL-DIAGNOSIS OF A DE-NOVO TRISOMY 6Q22.2-]6QTER AND MONOSOMY 1PTER-]1P36.3 - CASE-REPORT WITH A 2-YEAR FOLLOW-UP AND A BRIEF REVIEW OF OTHER PRENATAL CASES OF PARTIAL TRISOMY 6Q (VOL 51, PG 115, 1997)
Authors: KULHARYA AS CARLIN ME STETTLER WA HUSLIG M KUKOLICH MK GARCIAHERAS J
Citation: As. Kulharya et al., PRENATAL-DIAGNOSIS OF A DE-NOVO TRISOMY 6Q22.2-]6QTER AND MONOSOMY 1PTER-]1P36.3 - CASE-REPORT WITH A 2-YEAR FOLLOW-UP AND A BRIEF REVIEW OF OTHER PRENATAL CASES OF PARTIAL TRISOMY 6Q (VOL 51, PG 115, 1997), Clinical genetics, 52(4), 1997, pp. 251-251
PRENATAL-DIAGNOSIS OF A DE-NOVO TRISOMY 6Q22.2-]6QTER AND MONOSOMY 1PTER-]1P36.3 - CASE-REPORT WITH A 2-YEAR FOLLOW-UP AND A BRIEF REVIEW OF OTHER PRENATAL CASES OF PARTIAL TRISOMY 6Q
Authors: KULHARYA AS CARLIN ME STETTLER WA HUSLIG M KUKOLICH MK GARCIAHERAS J
Citation: As. Kulharya et al., PRENATAL-DIAGNOSIS OF A DE-NOVO TRISOMY 6Q22.2-]6QTER AND MONOSOMY 1PTER-]1P36.3 - CASE-REPORT WITH A 2-YEAR FOLLOW-UP AND A BRIEF REVIEW OF OTHER PRENATAL CASES OF PARTIAL TRISOMY 6Q, Clinical genetics, 51(2), 1997, pp. 115-117
PRENATAL-DIAGNOSIS OF NON-MOSAIC TRISOMY 17P DERIVED FROM A NON-MOSAIC SATELLITED MARKER
Authors: KULHARYA AS GARCIAHERAS J RADTKE HB NORRIS KS KEPPEN LD FLANNERY DB
Citation: As. Kulharya et al., PRENATAL-DIAGNOSIS OF NON-MOSAIC TRISOMY 17P DERIVED FROM A NON-MOSAIC SATELLITED MARKER, American journal of human genetics, 61(4), 1997, pp. 711-711
DELETION OF THE REGION CONTAINING THE SHORT STATURE HOMEOBOX-CONTAINING GENE (SHOX) IN A DERIVED XP22.3 TRANSLOCATION PATIENT WITH SHORT STATURE BY FISH
Authors: RAO PN RAO E WEISS B SCHWARTZ R RAHI S STEWART W GARCIAHERAS J PETTENATI MJ RAPPOLD GA
Citation: Pn. Rao et al., DELETION OF THE REGION CONTAINING THE SHORT STATURE HOMEOBOX-CONTAINING GENE (SHOX) IN A DERIVED XP22.3 TRANSLOCATION PATIENT WITH SHORT STATURE BY FISH, American journal of human genetics, 61(4), 1997, pp. 787-787
FIRST REPORT OF A CONSTITUTIONAL DELETION IN 19Q - CYTOGENETIC AND MOLECULAR ANALYSIS FOR FINE DEFINITION OF THE DELETION BREAKPOINTS WITH A 3 YEAR FOLLOW-UP
Authors: KULHARYA AS GARCIAHERAS J MAMUNES P NORRIS KS MICHAELIS RC
Citation: As. Kulharya et al., FIRST REPORT OF A CONSTITUTIONAL DELETION IN 19Q - CYTOGENETIC AND MOLECULAR ANALYSIS FOR FINE DEFINITION OF THE DELETION BREAKPOINTS WITH A 3 YEAR FOLLOW-UP, American journal of human genetics, 61(4), 1997, pp. 889-889
FAMILIAL TRANSLOCATION (X-3)(P22.3-P23) - CHROMOSOMAL IN-SITU SUPPRESSION (CISS) HYBRIDIZATION AND INACTIVATION PATTERN STUDY
Authors: GARCIAHERAS J
Citation: J. Garciaheras, FAMILIAL TRANSLOCATION (X-3)(P22.3-P23) - CHROMOSOMAL IN-SITU SUPPRESSION (CISS) HYBRIDIZATION AND INACTIVATION PATTERN STUDY, Clinical genetics, 50(4), 1996, pp. 270-271
MILD PHENOTYPIC EFFECTS OF A DE-NOVO DELETION-XPTER-]XP22.3 AND DUPLICATION-3PTER-]3P23
Authors: KULHARYA AS ROOP H KUKOLICH MK NACHTMAN RG BELMONT JW GARCIAHERAS J
Citation: As. Kulharya et al., MILD PHENOTYPIC EFFECTS OF A DE-NOVO DELETION-XPTER-]XP22.3 AND DUPLICATION-3PTER-]3P23, American journal of medical genetics, 56(1), 1995, pp. 16-21
MOLECULAR AND CYTOGENETIC STUDIES ON A DE-NOVO DELETION XQ26-]XQTER AND DUPLICATION 10Q21-]10QTER ASSOCIATED WITH MILDER FEATURES OF DISTALTRISOMY 10Q - REPORT AND REVIEW ABOUT THE USE OF LATE REPLICATION ANDTHE HUMAN ANDROGEN RECEPTOR TECHNIQUES TO IDENTIFY PARENTAL ORIGIN
Authors: MARTIN J SIEGEL S SCACHERI P GARCIAHERAS J
Citation: J. Martin et al., MOLECULAR AND CYTOGENETIC STUDIES ON A DE-NOVO DELETION XQ26-]XQTER AND DUPLICATION 10Q21-]10QTER ASSOCIATED WITH MILDER FEATURES OF DISTALTRISOMY 10Q - REPORT AND REVIEW ABOUT THE USE OF LATE REPLICATION ANDTHE HUMAN ANDROGEN RECEPTOR TECHNIQUES TO IDENTIFY PARENTAL ORIGIN, American journal of human genetics, 57(4), 1995, pp. 672-672
MOLECULAR AND CYTOGENETIC STUDIES ON A DE-NOVO DELETION XPTER-]XP22.3AND DUPLICATION 3PTER-]3P23 ASSOCIATED WITH MILD DYSMORPHIA AND SPEECH DELAY
Authors: KULHARYA AS ROOP H KUKOLICH MK NACHTMAN RG BELMONT JW GARCIAHERAS J
Citation: As. Kulharya et al., MOLECULAR AND CYTOGENETIC STUDIES ON A DE-NOVO DELETION XPTER-]XP22.3AND DUPLICATION 3PTER-]3P23 ASSOCIATED WITH MILD DYSMORPHIA AND SPEECH DELAY, American journal of human genetics, 53(3), 1993, pp. 569-569
TRISOMY 6QTER-]6Q22.2 AND MONOSOMY 1PTER-]1P36.3 IDENTIFIED BY FISH AT AMNIOCENTESIS
Authors: GARCIAHERAS J KULHARYA AS STETTLER WA CARLIN ME GOULD M KUKOLICH MK
Citation: J. Garciaheras et al., TRISOMY 6QTER-]6Q22.2 AND MONOSOMY 1PTER-]1P36.3 IDENTIFIED BY FISH AT AMNIOCENTESIS, American journal of human genetics, 53(3), 1993, pp. 1570-1570
Risultati: 1-17 |