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Results: 1-25 | 26-50 | 51-75 | 76-96
Results: 1-25/96
DEFECTIVE HISTONE H4 DEACETYLATION IN ROBERTS-SYNDROME FIBROBLASTS
Authors: VANHOOSER A CABELLO OA SHAFFER LG ADAM LR ALLIS CD YOUSSOUFIAN H BELMONT JW BRINKLEY BR
Citation: A. Vanhooser et al., DEFECTIVE HISTONE H4 DEACETYLATION IN ROBERTS-SYNDROME FIBROBLASTS, Molecular biology of the cell, 9, 1998, pp. 1855-1855
CHROMOSOME STABILITY IS MAINTAINED BY SHORT INTERCENTROMERIC DISTANCEIN FUNCTIONALLY DICENTRIC HUMAN ROBERTSONIAN TRANSLOCATIONS
Authors: PAGE SL SHAFFER LG
Citation: Sl. Page et Lg. Shaffer, CHROMOSOME STABILITY IS MAINTAINED BY SHORT INTERCENTROMERIC DISTANCEIN FUNCTIONALLY DICENTRIC HUMAN ROBERTSONIAN TRANSLOCATIONS, Chromosome research, 6(2), 1998, pp. 115-122
PATERNAL UNIPARENTAL DISOMY 13 INVOLVING ISOCHROMOSOMES
Authors: BEREND SA MCCASKILL C CZARNECKI P FELDMAN GL VANDYKE DL SHAFFER LG
Citation: Sa. Berend et al., PATERNAL UNIPARENTAL DISOMY 13 INVOLVING ISOCHROMOSOMES, Cytogenetics and cell genetics, 82(1-2), 1998, pp. 140-141
ROBERTSONIAN TRANSLOCATIONS - WHAT ARE THE RISKS FOR UNIPARENTAL DISOMY
Authors: SHAFFER LG MCCASKILL C
Citation: Lg. Shaffer et C. Mccaskill, ROBERTSONIAN TRANSLOCATIONS - WHAT ARE THE RISKS FOR UNIPARENTAL DISOMY, Cytogenetics and cell genetics, 82(1-2), 1998, pp. 141-141
COMBINED TRISOMY-9 AND ULLRICH-TURNER-SYNDROME IN A GIRL WITH A 46,X,DER(9)T(X-9)(Q12-Q32) KARYOTYPE
Authors: CANUN S MUTCHINICK O SHAFFER LG FERNANDEZ C
Citation: S. Canun et al., COMBINED TRISOMY-9 AND ULLRICH-TURNER-SYNDROME IN A GIRL WITH A 46,X,DER(9)T(X-9)(Q12-Q32) KARYOTYPE, American journal of medical genetics, 80(3), 1998, pp. 199-203
MOLECULAR ANALYSIS OF MOSAICISM FOR 2 DIFFERENT DE-NOVO ACROCENTRIC REARRANGEMENTS DEMONSTRATES DIVERSITY IN ROBERTSONIAN TRANSLOCATION FORMATION
Authors: BEREND SA CANUN S MCCASKILL C PAGE SL SHAFFER LG
Citation: Sa. Berend et al., MOLECULAR ANALYSIS OF MOSAICISM FOR 2 DIFFERENT DE-NOVO ACROCENTRIC REARRANGEMENTS DEMONSTRATES DIVERSITY IN ROBERTSONIAN TRANSLOCATION FORMATION, American journal of medical genetics, 80(3), 1998, pp. 252-259
SYSTEMATIC SEARCH FOR UNIPARENTAL DISOMY IN EARLY FETAL LOSSES - THE RESULTS AND A REVIEW OF THE LITERATURE
Authors: SHAFFER LG MCCASKILL C ADKINS K HASSOLD TJ
Citation: Lg. Shaffer et al., SYSTEMATIC SEARCH FOR UNIPARENTAL DISOMY IN EARLY FETAL LOSSES - THE RESULTS AND A REVIEW OF THE LITERATURE, American journal of medical genetics, 79(5), 1998, pp. 366-372
DELINEATION OF THE COMMON CRITICAL REGION IN WILLIAMS-SYNDROME AND CLINICAL CORRELATION OF GROWTH, HEART-DEFECTS, ETHNICITY, AND PARENTAL ORIGIN
Authors: WU YQ SUTTON VR NICKERSON E LUPSKI JR POTOCKI L KORENBERG JR GREENBERG F TASSABEHJI M SHAFFER LG
Citation: Yq. Wu et al., DELINEATION OF THE COMMON CRITICAL REGION IN WILLIAMS-SYNDROME AND CLINICAL CORRELATION OF GROWTH, HEART-DEFECTS, ETHNICITY, AND PARENTAL ORIGIN, American journal of medical genetics, 78(1), 1998, pp. 82-89
GENE FOR MULTIPLE EXOSTOSES (EXT2) MAPS TO 11(P11.2P12) AND IS DELETED IN PATIENTS WITH A CONTIGUOUS GENE SYNDROME
Authors: LIGON AH POTOCKI L SHAFFER LG STICKENS D EVANS GA
Citation: Ah. Ligon et al., GENE FOR MULTIPLE EXOSTOSES (EXT2) MAPS TO 11(P11.2P12) AND IS DELETED IN PATIENTS WITH A CONTIGUOUS GENE SYNDROME, American journal of medical genetics, 75(5), 1998, pp. 538-540
CHARCOT-MARIE-TOOTH PHENOTYPE PRODUCED BY A DUPLICATED PMP22 GENE AS PART OF A 17P TRISOMY-TRANSLOCATION TO THE X-CHROMOSOME
Authors: KING PH WALDROP R LUPSKI JR SHAFFER LG
Citation: Ph. King et al., CHARCOT-MARIE-TOOTH PHENOTYPE PRODUCED BY A DUPLICATED PMP22 GENE AS PART OF A 17P TRISOMY-TRANSLOCATION TO THE X-CHROMOSOME, Clinical genetics, 54(5), 1998, pp. 413-416
SUCCESSFUL TREATMENT OF ACQUIRED HEMOPHILIA WITH ORAL IMMUNOSUPPRESSIVE THERAPY (VOL 127, PG 206, 1997)
Authors: SHAFFER LG PHILLIPS MD
Citation: Lg. Shaffer et Md. Phillips, SUCCESSFUL TREATMENT OF ACQUIRED HEMOPHILIA WITH ORAL IMMUNOSUPPRESSIVE THERAPY (VOL 127, PG 206, 1997), Annals of internal medicine, 128(4), 1998, pp. 330-330
PATERNAL ISODISOMY OF CHROMOSOME-7 ASSOCIATED WITH COMPLETE SITUS-INVERSUS AND IMMOTILE CILIA
Authors: PAN YZ MCCASKILL CD THOMPSON KH HICKS J CASEY B SHAFFER LG CRAIGEN WJ
Citation: Yz. Pan et al., PATERNAL ISODISOMY OF CHROMOSOME-7 ASSOCIATED WITH COMPLETE SITUS-INVERSUS AND IMMOTILE CILIA, American journal of human genetics, 62(6), 1998, pp. 1551-1555
NONHOMOLOGOUS ROBERTSONIAN TRANSLOCATIONS FORM PREDOMINANTLY DURING FEMALE MEIOSIS
Authors: PAGE SL SHAFFER LG
Citation: Sl. Page et Lg. Shaffer, NONHOMOLOGOUS ROBERTSONIAN TRANSLOCATIONS FORM PREDOMINANTLY DURING FEMALE MEIOSIS, Nature genetics, 15(3), 1997, pp. 231-232
SPECTRAL KARYOTYPING REFINES CYTOGENETIC DIAGNOSTICS OF CONSTITUTIONAL CHROMOSOMAL-ABNORMALITIES
Authors: SCHROCK E VELDMAN T PADILLANASH H NING Y SPURBECK J JALAL S SHAFFER LG PAPENHAUSEN P KOZMA C PHELAN MC KJELDSEN E SCHONBERG SA OBRIEN P BIESECKER L DUMANOIR S RIED T
Citation: E. Schrock et al., SPECTRAL KARYOTYPING REFINES CYTOGENETIC DIAGNOSTICS OF CONSTITUTIONAL CHROMOSOMAL-ABNORMALITIES, Human genetics, 101(3), 1997, pp. 255-262
A NOVEL FISH BRDU TECHNIQUE REVEALS SKEWING OF X-INACTIVATION IN A PHENOTYPICALLY NORMAL MOTHER OF AN AFFECTED BOY WITH DUP(X)(Q27Q28)/
Authors: GAGOS S SHAPIRA SK LEE B SPIKES AS SHAFFER LG
Citation: S. Gagos et al., A NOVEL FISH BRDU TECHNIQUE REVEALS SKEWING OF X-INACTIVATION IN A PHENOTYPICALLY NORMAL MOTHER OF AN AFFECTED BOY WITH DUP(X)(Q27Q28)/, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 17-17
RARE TRISOMY MOSAICISM DIAGNOSED IN AMNIOCYTES, INVOLVING AN AUTOSOMEOTHER THAN CHROMOSOME-13, CHROMOSOME-18, CHROMOSOME-20, AND CHROMOSOME-21 - KARYOTYPE PHENOTYPE CORRELATIONS/
Authors: HSU LYF YU MT NEU RL VANDYKE DL BENN PA BRADSHAW CL SHAFFER LG HIGGINS RR KHODR GS MORTON CC WANG HS BROTHMAN AR CHADWICK D DISTECHE CM JENKINS LS KALOUSEK DK PANTZAR TJ WYATT P
Citation: Lyf. Hsu et al., RARE TRISOMY MOSAICISM DIAGNOSED IN AMNIOCYTES, INVOLVING AN AUTOSOMEOTHER THAN CHROMOSOME-13, CHROMOSOME-18, CHROMOSOME-20, AND CHROMOSOME-21 - KARYOTYPE PHENOTYPE CORRELATIONS/, Prenatal diagnosis, 17(3), 1997, pp. 201-242
PRENATAL-DIAGNOSIS OF A FETUS WITH A HOMOLOGOUS ROBERTSONIAN TRANSLOCATION OF CHROMOSOMES-15
Authors: CHEUNG SW SHAFFER LG RICHARDS CS PAGE SL RICONDA DL
Citation: Sw. Cheung et al., PRENATAL-DIAGNOSIS OF A FETUS WITH A HOMOLOGOUS ROBERTSONIAN TRANSLOCATION OF CHROMOSOMES-15, American journal of medical genetics, 72(1), 1997, pp. 47-50
SEVERE CLINICAL PHENOTYPE DUE TO AN INTERSTITIAL DELETION OF THE SHORT ARM OF CHROMOSOME-1 - A BRIEF REVIEW
Authors: STOCKTON DW ROSS HL BACINO CA ALTMAN CA SHAFFER LG LUPSKI JR
Citation: Dw. Stockton et al., SEVERE CLINICAL PHENOTYPE DUE TO AN INTERSTITIAL DELETION OF THE SHORT ARM OF CHROMOSOME-1 - A BRIEF REVIEW, American journal of medical genetics, 71(2), 1997, pp. 189-193
CONSTITUTIONAL MOSAICISM FOR A CHROMOSOME-9 INVERSION RESULTING IN RECOMBINANT ANEUSOMY IN AN OFFSPRING (VOL 69, PG 360, 1997)
Authors: SHAPIRA SK ORRURTREGER A GAGOS S SHAFFER LG
Citation: Sk. Shapira et al., CONSTITUTIONAL MOSAICISM FOR A CHROMOSOME-9 INVERSION RESULTING IN RECOMBINANT ANEUSOMY IN AN OFFSPRING (VOL 69, PG 360, 1997), American journal of medical genetics, 71(1), 1997, pp. 126-126
CONSTITUTIONAL MOSAICISM FOR A CHROMOSOME-9 INVERSION RESULTING IN RECOMBINANT ANEUSOMY IN AN OFFSPRING
Authors: SHAPIRA SK ORRURTREGER A GAGOS S SHAFFER LG
Citation: Sk. Shapira et al., CONSTITUTIONAL MOSAICISM FOR A CHROMOSOME-9 INVERSION RESULTING IN RECOMBINANT ANEUSOMY IN AN OFFSPRING, American journal of medical genetics, 69(4), 1997, pp. 360-364
DIAGNOSIS OF CMT1A DUPLICATIONS AND HNPP DELETIONS BY INTERPHASE FISH- IMPLICATIONS FOR TESTING IN THE CYTOGENETICS LABORATORY
Authors: SHAFFER LG KENNEDY GM SPIKES AS LUPSKI JR
Citation: Lg. Shaffer et al., DIAGNOSIS OF CMT1A DUPLICATIONS AND HNPP DELETIONS BY INTERPHASE FISH- IMPLICATIONS FOR TESTING IN THE CYTOGENETICS LABORATORY, American journal of medical genetics, 69(3), 1997, pp. 325-331
DMD-SPECIFIC FISH PROBES ARE DIAGNOSTICALLY USEFUL IN THE DETECTION OF FEMALE CARRIERS OF DMD-GENE DELETIONS
Authors: VOSKOVAGOLDMAN A PEIER A CASKEY CT RICHARDS CS SHAFFER LG
Citation: A. Voskovagoldman et al., DMD-SPECIFIC FISH PROBES ARE DIAGNOSTICALLY USEFUL IN THE DETECTION OF FEMALE CARRIERS OF DMD-GENE DELETIONS, Neurology, 48(6), 1997, pp. 1633-1638
SUCCESSFUL TREATMENT OF ACQUIRED HEMOPHILIA WITH ORAL IMMUNOSUPPRESSIVE THERAPY
Authors: SHAFFER LG PHILLIPS MD
Citation: Lg. Shaffer et Md. Phillips, SUCCESSFUL TREATMENT OF ACQUIRED HEMOPHILIA WITH ORAL IMMUNOSUPPRESSIVE THERAPY, Annals of internal medicine, 127(3), 1997, pp. 206-209
DNA REARRANGEMENTS ON BOTH CHROMOSOME-17 HOMOLOGS IN A MILDLY DELAYEDINDIVIDUAL WITH A FAMILY HISTORY OF CARPAL-TUNNEL SYNDROME
Authors: POTOCKI L KOEUTH T CHEN KS KILLIAN J SHAFFER LG LUPSKI JR
Citation: L. Potocki et al., DNA REARRANGEMENTS ON BOTH CHROMOSOME-17 HOMOLOGS IN A MILDLY DELAYEDINDIVIDUAL WITH A FAMILY HISTORY OF CARPAL-TUNNEL SYNDROME, American journal of human genetics, 61(4), 1997, pp. 618-618
MOLECULAR ANALYSIS OF MOSAICISM FOR 2 DIFFERENT DE-NOVO ACROCENTRIC REARRANGEMENTS REVEALS DIVERSITY IN ROBERTSONIAN TRANSLOCATION FORMATION
Authors: BEREND SA CANUN S MCCASKILL C PAGE SL SHAFFER LG
Citation: Sa. Berend et al., MOLECULAR ANALYSIS OF MOSAICISM FOR 2 DIFFERENT DE-NOVO ACROCENTRIC REARRANGEMENTS REVEALS DIVERSITY IN ROBERTSONIAN TRANSLOCATION FORMATION, American journal of human genetics, 61(4), 1997, pp. 670-670
Risultati: 1-25 | 26-50 | 51-75 | 76-96