AAAAAA

   
Results: 1-12 |
Results: 12
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
HOMOLOGOUS RECOMBINATION OF A FLANKING REPEAT GENE-CLUSTER IS A MECHANISM FOR A COMMON CONTIGUOUS GENE DELETION SYNDROME
Authors: CHEN KS MANIAN P KOEUTH T POTOCKI L ZHAO Q CHINAULT AC LEE CC LUPSKI JR
Citation: Ks. Chen et al., HOMOLOGOUS RECOMBINATION OF A FLANKING REPEAT GENE-CLUSTER IS A MECHANISM FOR A COMMON CONTIGUOUS GENE DELETION SYNDROME, Nature genetics, 17(2), 1997, pp. 154-163
HOMOLOGOUS RECOMBINATION OF A FLANKING REPEAT GENE-CLUSTER IS A MECHANISM FCR A COMMON MICRODELETION SYNDROME
Authors: CHEN KS MANIAN P KOEUTH T POTOCKI L ZHAO Q CHINAULT AC LEE CC LUPSKI JR
Citation: Ks. Chen et al., HOMOLOGOUS RECOMBINATION OF A FLANKING REPEAT GENE-CLUSTER IS A MECHANISM FCR A COMMON MICRODELETION SYNDROME, American journal of human genetics, 61(4), 1997, pp. 205-205
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
GENERATION OF A MOUSE MODEL FOR SMITH-MAGENIS-SYNDROME-DISEASE
Authors: ZHAO Q CHEN KS POTOCKI L LUPSKI JR
Citation: Q. Zhao et al., GENERATION OF A MOUSE MODEL FOR SMITH-MAGENIS-SYNDROME-DISEASE, American journal of human genetics, 61(4), 1997, pp. 2241-2241
QUANTIFICATION BY FLOW-CYTOMETRY OF CHROMOSOME-17 DELETIONS IN SMITH-MAGENIS SYNDROME PATIENTS
Authors: TRASK BJ MEFFORD H VANDENENGH G MASSA HF JUYAL RC POTOCKI L FINUCANE B ABUELO DN WITT DR MAGENIS E BALDINI A GREENBERG F LUPSKI JR PATEL PI
Citation: Bj. Trask et al., QUANTIFICATION BY FLOW-CYTOMETRY OF CHROMOSOME-17 DELETIONS IN SMITH-MAGENIS SYNDROME PATIENTS, Human genetics, 98(6), 1996, pp. 710-718
MULTIDISCIPLINARY CLINICAL-STUDY OF SMITH-MAGENIS SYNDROME (DELETION-17P11.2)
Authors: GREENBERG F LEWIS RA POTOCKI L GLAZE D PARKE J KILLIAN J MURPHY MA WILLIAMSON D BROWN F DUTTON R MCCLUGGAGE C FRIEDMAN E SULEK M LUPSKI JR
Citation: F. Greenberg et al., MULTIDISCIPLINARY CLINICAL-STUDY OF SMITH-MAGENIS SYNDROME (DELETION-17P11.2), American journal of medical genetics, 62(3), 1996, pp. 247-254
INTERSTITIAL DELETION OF 11 (P11.2P12) - A NEWLY DESCRIBED CONTIGUOUSGENE DELETION SYNDROME INVOLVING THE GENE FOR HEREDITARY MULTIPLE EXOSTOSES (EXT2)
Authors: POTOCKI L SHAFFER LG
Citation: L. Potocki et Lg. Shaffer, INTERSTITIAL DELETION OF 11 (P11.2P12) - A NEWLY DESCRIBED CONTIGUOUSGENE DELETION SYNDROME INVOLVING THE GENE FOR HEREDITARY MULTIPLE EXOSTOSES (EXT2), American journal of medical genetics, 62(3), 1996, pp. 319-325
CARDIAC MALFORMATION IN 2 INFANTS WITH HYPOCHONDROGENESIS
Authors: POTOCKI L ABUELO DN OYER CE
Citation: L. Potocki et al., CARDIAC MALFORMATION IN 2 INFANTS WITH HYPOCHONDROGENESIS, American journal of medical genetics, 59(3), 1995, pp. 295-299
INTERSTITIAL DELETION OF 11(P11.12P12) - A RARE CHROMOSOMAL SYNDROME WITH MENTAL-RETARDATION, PARIETAL FORAMINA, AND MULTIPLE EXOSTOSES
Authors: POTOCKI L GREENBERG F SHAFFER LG
Citation: L. Potocki et al., INTERSTITIAL DELETION OF 11(P11.12P12) - A RARE CHROMOSOMAL SYNDROME WITH MENTAL-RETARDATION, PARIETAL FORAMINA, AND MULTIPLE EXOSTOSES, American journal of human genetics, 57(4), 1995, pp. 688-688
TETRASOMY-21 IN MEGAKARYOBLASTIC LEUKEMIA
Authors: POTOCKI L TOWNES PL WODA BA RAO SK SHEARIN JP SCHWENN MR
Citation: L. Potocki et al., TETRASOMY-21 IN MEGAKARYOBLASTIC LEUKEMIA, Cancer genetics and cytogenetics, 74(1), 1994, pp. 66-70
Risultati: 1-12 |