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Results: 1-25 | 26-50 | 51-75 | 76-96 |
Results: 76-96/96
ABNORMAL SEGREGATION OF 2 PARENTAL RECIPROCAL TRANSLOCATIONS RESULTING IN PARTIAL TRISOMY 16Q23-]QTER
Authors: GAGOS SH DELGADO MR MILLS J SHAFFER LG SHAPIRA SK
Citation: Sh. Gagos et al., ABNORMAL SEGREGATION OF 2 PARENTAL RECIPROCAL TRANSLOCATIONS RESULTING IN PARTIAL TRISOMY 16Q23-]QTER, American journal of human genetics, 57(4), 1995, pp. 1794-1794
DELETIONS OF THE ELASTIN GENE AT 7Q11.23 OCCUR IN SIMILAR-TO-90-PERCENT OF PATIENTS WITH WILLIAMS-SYNDROME
Authors: NICKERSON E GREENBERG F KEATING MT MCCASKILL C SHAFFER LG
Citation: E. Nickerson et al., DELETIONS OF THE ELASTIN GENE AT 7Q11.23 OCCUR IN SIMILAR-TO-90-PERCENT OF PATIENTS WITH WILLIAMS-SYNDROME, American journal of human genetics, 56(5), 1995, pp. 1156-1161
THE HUMAN HOMOLOG OF THE DROSOPHILA-MELANOGASTER FLIGHTLESS-I GENE (FLII) MAPS WITHIN THE SMITH-MAGENIS MICRODELETION CRITICAL REGION IN 17P11.2
Authors: CHEN KS GUNARATNE PH HOHEISEL JD YOUNG IG MIKLOS GLG GREENBERG F SHAFFER LG CAMPBELL HD LUPSKI JR
Citation: Ks. Chen et al., THE HUMAN HOMOLOG OF THE DROSOPHILA-MELANOGASTER FLIGHTLESS-I GENE (FLII) MAPS WITHIN THE SMITH-MAGENIS MICRODELETION CRITICAL REGION IN 17P11.2, American journal of human genetics, 56(1), 1995, pp. 175-182
ISOLATION OF A GCC REPEAT SHOWING EXPANSION IN FRAXF, A FRAGILE SITE DISTAL TO FRAXA AND FRAXE
Authors: PARRISH JE OOSTRA BA VERKERK AJMH RICHARDS CS REYNOLDS J SPIKES AS SHAFFER LG NELSON DL
Citation: Je. Parrish et al., ISOLATION OF A GCC REPEAT SHOWING EXPANSION IN FRAXF, A FRAGILE SITE DISTAL TO FRAXA AND FRAXE, Nature genetics, 8(3), 1994, pp. 229-235
ESTIMATES OF ANEUPLOIDY USING MULTICOLOR FLUORESCENCE IN-SITU HYBRIDIZATION ON HUMAN SPERM
Authors: BISCHOFF FZ NGUYEN DD BURT KJ SHAFFER LG
Citation: Fz. Bischoff et al., ESTIMATES OF ANEUPLOIDY USING MULTICOLOR FLUORESCENCE IN-SITU HYBRIDIZATION ON HUMAN SPERM, Cytogenetics and cell genetics, 66(4), 1994, pp. 237-243
DE-NOVO PROXIMAL INTERSTITIAL DELETIONS OF 14Q - CYTOGENETIC AND MOLECULAR INVESTIGATIONS
Authors: SHAPIRA SK ANDERSON KL ORRURTREGAR A CRAIGEN WJ LUPSKI JR SHAFFER LG
Citation: Sk. Shapira et al., DE-NOVO PROXIMAL INTERSTITIAL DELETIONS OF 14Q - CYTOGENETIC AND MOLECULAR INVESTIGATIONS, American journal of medical genetics, 52(1), 1994, pp. 44-50
HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN (HPFH) - RAPID DIAGNOSIS OF DELETIONS INVOLVING THE BETA-GLOBIN GENE BY FLUORESCENCE IN-SITU HYBRIDIZATION (FISH)
Authors: SHAFFER LG NGUYEN DD SYLVESTERJACKSON D ZHANG YH MCCABE ERB
Citation: Lg. Shaffer et al., HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN (HPFH) - RAPID DIAGNOSIS OF DELETIONS INVOLVING THE BETA-GLOBIN GENE BY FLUORESCENCE IN-SITU HYBRIDIZATION (FISH), Pediatric research, 35(4), 1994, pp. 10000170-10000170
VERY-LOW MATERNAL SERUM CHORIONIC-GONADOTROPIN LEVELS IN ASSOCIATION WITH FETAL TRIPLOIDY
Authors: SCHMIDT D SHAFFER LG MCCASKILL C ROSE E GREENBERG F
Citation: D. Schmidt et al., VERY-LOW MATERNAL SERUM CHORIONIC-GONADOTROPIN LEVELS IN ASSOCIATION WITH FETAL TRIPLOIDY, American journal of obstetrics and gynecology, 170(1), 1994, pp. 77-80
MOLECULAR CYTOGENETIC CHARACTERIZATION OF 17-ROB(13Q14Q) ROBERTSONIANTRANSLOCATIONS BY FISH, NARROWING THE REGION CONTAINING THE BREAKPOINTS
Authors: HAN JY CHOO KHA SHAFFER LG
Citation: Jy. Han et al., MOLECULAR CYTOGENETIC CHARACTERIZATION OF 17-ROB(13Q14Q) ROBERTSONIANTRANSLOCATIONS BY FISH, NARROWING THE REGION CONTAINING THE BREAKPOINTS, American journal of human genetics, 55(5), 1994, pp. 960-967
MOLECULAR CHARACTERIZATION OF DE-NOVO SECONDARY TRISOMY-13
Authors: SHAFFER LG MCCASKILL C HAN JY CHOO KHA CUTILLO DM DONNENFELD AE WEISS L VANDYKE DL
Citation: Lg. Shaffer et al., MOLECULAR CHARACTERIZATION OF DE-NOVO SECONDARY TRISOMY-13, American journal of human genetics, 55(5), 1994, pp. 968-974
IDENTIFICATION OF A SUBTLE TRANSLOCATION AND THE USE OF CHROMOSOME PAINTING PROBES IN A FAMILY WITH RECURRENT MISCARRIAGES AND A CHILD WITHMCA
Authors: SPIKES A MACHA ME DUNN R SHAFFER LG
Citation: A. Spikes et al., IDENTIFICATION OF A SUBTLE TRANSLOCATION AND THE USE OF CHROMOSOME PAINTING PROBES IN A FAMILY WITH RECURRENT MISCARRIAGES AND A CHILD WITHMCA, Cytogenetics and cell genetics, 63(4), 1993, pp. 255-255
PRENATAL-DIAGNOSIS AND CLINICAL FINDINGS IN A CASE OF HEXASOMY 12P
Authors: MACHA ME VANDENVEYVER IB MCCASKILL C CARPENTER RJ SHAFFER LG
Citation: Me. Macha et al., PRENATAL-DIAGNOSIS AND CLINICAL FINDINGS IN A CASE OF HEXASOMY 12P, Cytogenetics and cell genetics, 63(4), 1993, pp. 256-256
PRENATAL-DIAGNOSIS AND CLINICAL FINDINGS IN A CASE OF HEXASOMY-12P
Authors: VANDENVEYVER IB MACHA ME MCCASKILL C CARPENTER RJ SHAFFER LG
Citation: Ib. Vandenveyver et al., PRENATAL-DIAGNOSIS AND CLINICAL FINDINGS IN A CASE OF HEXASOMY-12P, American journal of medical genetics, 47(8), 1993, pp. 1171-1174
FURTHER CHARACTERIZATION OF 19 CASES OF REA(21Q21Q) AND DELINEATION AS ISOCHROMOSOMES OR ROBERTSONIAN TRANSLOCATIONS IN DOWN-SYNDROME
Authors: SHAFFER LG MCCASKILL C HALLER V BROWN JA JACKSONCOOK CK
Citation: Lg. Shaffer et al., FURTHER CHARACTERIZATION OF 19 CASES OF REA(21Q21Q) AND DELINEATION AS ISOCHROMOSOMES OR ROBERTSONIAN TRANSLOCATIONS IN DOWN-SYNDROME, American journal of medical genetics, 47(8), 1993, pp. 1218-1222
GENETIC SYNDROMES AND UNIPARENTAL DISOMY - A STUDY OF 16 CASES OF BRACHMANN-DE-LANGE SYNDROME
Authors: SHAFFER LG OVERHAUSER J JACKSON LG LEDBETTER DH
Citation: Lg. Shaffer et al., GENETIC SYNDROMES AND UNIPARENTAL DISOMY - A STUDY OF 16 CASES OF BRACHMANN-DE-LANGE SYNDROME, American journal of medical genetics, 47(3), 1993, pp. 383-386
MOLECULAR DELINEATION OF THE CRITICAL REGION OF THE DUPLICATION 3Q SYNDROME
Authors: AQUA MS LINDSAY EA SHAFFER LG ZACKAI EH OVERHAUSER J BALDINI A
Citation: Ms. Aqua et al., MOLECULAR DELINEATION OF THE CRITICAL REGION OF THE DUPLICATION 3Q SYNDROME, American journal of human genetics, 53(3), 1993, pp. 221-221
DETECTION OF NONDISJUNCTION FOR 10-CHROMOSOMES USING 2-COLOR FISH ON HUMAN SPERM
Authors: BISCHOFF FZ BURT KJ SHAFFER LG
Citation: Fz. Bischoff et al., DETECTION OF NONDISJUNCTION FOR 10-CHROMOSOMES USING 2-COLOR FISH ON HUMAN SPERM, American journal of human genetics, 53(3), 1993, pp. 528-528
MOLECULAR-DETECTION OF DEL(17)(P11.2) - FLUORESCENCE IN-SITU HYBRIDIZATION AND SOMATIC-CELL HYBRID ANALYSIS OF SMITH-MAGENIS SYNDROME PATIENTS
Authors: JUYAL RC ROJASMARTINEZ A ORTIZLOPEZ R LINDSAY E BALDINI A SHAFFER LG CHINAULT AC LUPSKI JR GREENBERG F PATEL PI
Citation: Rc. Juyal et al., MOLECULAR-DETECTION OF DEL(17)(P11.2) - FLUORESCENCE IN-SITU HYBRIDIZATION AND SOMATIC-CELL HYBRID ANALYSIS OF SMITH-MAGENIS SYNDROME PATIENTS, American journal of human genetics, 53(3), 1993, pp. 567-567
DE-NOVO PROXIMAL DELETIONS OF 14Q - CYTOGENETIC AND MOLECULAR INVESTIGATIONS
Authors: SHAPIRA SK ANDERSON KL ORRURTREGAR A CRAIGEN WJ LUPSKI JR SHAFFER LG
Citation: Sk. Shapira et al., DE-NOVO PROXIMAL DELETIONS OF 14Q - CYTOGENETIC AND MOLECULAR INVESTIGATIONS, American journal of human genetics, 53(3), 1993, pp. 601-601
SUBMICROSCOPIC DELETIONS AT 22Q11.2 - VARIABILITY OF THE CLINICAL PICTURE AND DELIMITATION OF THE COMMONLY DELETED REGION
Authors: LINDSAY EA GREENBERG F PAGE S SHAFFER LG SCAMBLER PJ BALDINI A
Citation: Ea. Lindsay et al., SUBMICROSCOPIC DELETIONS AT 22Q11.2 - VARIABILITY OF THE CLINICAL PICTURE AND DELIMITATION OF THE COMMONLY DELETED REGION, American journal of human genetics, 53(3), 1993, pp. 1195-1195
MOLECULAR-GENETIC ANALYSIS - CONFINED PLACENTAL TRISOMY-2 ASSOCIATED WITH SEVERE INTRAUTERINE AND POSTNATAL-GROWTH DEFICIENCY
Authors: MAIN DM OTTO CE ZNEIMER S SHAFFER LG
Citation: Dm. Main et al., MOLECULAR-GENETIC ANALYSIS - CONFINED PLACENTAL TRISOMY-2 ASSOCIATED WITH SEVERE INTRAUTERINE AND POSTNATAL-GROWTH DEFICIENCY, American journal of human genetics, 53(3), 1993, pp. 1434-1434
Risultati: 1-25 | 26-50 | 51-75 | 76-96 |