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Results: 1-25 |
Results: 25
PRENATAL-DIAGNOSIS AND OUTCOME OF MOSAICISM FOR A DE-NOVO UNBALANCED TRANSLOCATION IDENTIFIED IN AMNIOCYTES
Authors: COTTER PD BABU A WILLNER JP DESNICK RJ
Citation: Pd. Cotter et al., PRENATAL-DIAGNOSIS AND OUTCOME OF MOSAICISM FOR A DE-NOVO UNBALANCED TRANSLOCATION IDENTIFIED IN AMNIOCYTES, Prenatal diagnosis, 18(8), 1998, pp. 857-861
TRISOMY 2Q11.2-]Q21.1 RESULTING FROM AN UNBALANCED INSERTION IN 2 GENERATIONS
Authors: GLASS IA STORMER P OEI PTSP HACKING E COTTER PD
Citation: Ia. Glass et al., TRISOMY 2Q11.2-]Q21.1 RESULTING FROM AN UNBALANCED INSERTION IN 2 GENERATIONS, Journal of Medical Genetics, 35(4), 1998, pp. 319-322
CHIMERISM DETECTED BY AN UNBALANCED CHROMOSOME-TRANSLOCATION - AN ALTERNATIVE HYPOTHESIS
Authors: COTTER PD HIRSCHHORN K
Citation: Pd. Cotter et K. Hirschhorn, CHIMERISM DETECTED BY AN UNBALANCED CHROMOSOME-TRANSLOCATION - AN ALTERNATIVE HYPOTHESIS, Clinical genetics, 53(3), 1998, pp. 230-230
GENETIC-DEFECTS IN SIDEROBLASTIC ANEMIA
Authors: BISHOP DF COTTER PD LI L MAY A FITZSIMONS EJ
Citation: Df. Bishop et al., GENETIC-DEFECTS IN SIDEROBLASTIC ANEMIA, British Journal of Haematology, 102(1), 1998, pp. 20-20
A TRANSCRIPT MAP OF THE NEWLY DEFINED 165 KB WOLF-HIRSCHHORN SYNDROMECRITICAL REGION
Authors: WRIGHT TJ RICKE DO DENISON K ABMAYR S COTTER PD HIRSCHHORN K KEINANEN M MCDONALDMCGINN D SOMER M SPINNER N YANGFENG T ZACKAI E ALTHERR MR
Citation: Tj. Wright et al., A TRANSCRIPT MAP OF THE NEWLY DEFINED 165 KB WOLF-HIRSCHHORN SYNDROMECRITICAL REGION, Human molecular genetics, 6(2), 1997, pp. 317-324
CLONING AND MAPPING OF HUMAN RAB7 AND RAB9 CDNA SEQUENCES AND IDENTIFICATION OF A RAB9 PSEUDOGENE
Authors: DAVIES JP COTTER PD IOANNOU YA
Citation: Jp. Davies et al., CLONING AND MAPPING OF HUMAN RAB7 AND RAB9 CDNA SEQUENCES AND IDENTIFICATION OF A RAB9 PSEUDOGENE, Genomics, 41(1), 1997, pp. 131-134
PHYSICAL MAPPING OF THE HUMAN CONNEXIN-40 (GJA5), FLAVIN-CONTAINING MONOOXYGENASE-5, AND NATRIURETIC PEPTIDE RECEPTOR-A GENES ON 1Q21
Authors: GELB BD ZHANG J COTTER PD GERSHIN IF DESNICK RJ
Citation: Bd. Gelb et al., PHYSICAL MAPPING OF THE HUMAN CONNEXIN-40 (GJA5), FLAVIN-CONTAINING MONOOXYGENASE-5, AND NATRIURETIC PEPTIDE RECEPTOR-A GENES ON 1Q21, Genomics, 39(3), 1997, pp. 409-411
CHARACTERIZATION OF A DE-NOVO UNBALANCED CHROMOSOME REARRANGEMENT BY COMPARATIVE GENOMIC HYBRIDIZATION AND FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: LEVY B GERSHIN IF DESNICK RJ BABU A GELB BD HIRSCHHORN K COTTER PD
Citation: B. Levy et al., CHARACTERIZATION OF A DE-NOVO UNBALANCED CHROMOSOME REARRANGEMENT BY COMPARATIVE GENOMIC HYBRIDIZATION AND FLUORESCENCE IN-SITU HYBRIDIZATION, Cytogenetics and cell genetics, 76(1-2), 1997, pp. 68-71
PRENATAL-DIAGNOSIS OF A FAMILIAL INTERCHROMOSOMAL INSERTION OF Y-CHROMOSOME HETEROCHROMATIN
Authors: ASHTONPROLLA P GERSHIN IF BABU A NEU RL ZINBERG RE WILLNER JP DESNICK RJ COTTER PD
Citation: P. Ashtonprolla et al., PRENATAL-DIAGNOSIS OF A FAMILIAL INTERCHROMOSOMAL INSERTION OF Y-CHROMOSOME HETEROCHROMATIN, American journal of medical genetics, 73(4), 1997, pp. 470-473
PRENATAL DETECTION AND MOLECULAR CHARACTERIZATION OF A DE-NOVO DUPLICATION OF THE DISTAL LONG ARM OF CHROMOSOME-19
Authors: COTTER PD MCCURDY LD GERSHIN IF BABU A WILLNER JP DESNICK RJ
Citation: Pd. Cotter et al., PRENATAL DETECTION AND MOLECULAR CHARACTERIZATION OF A DE-NOVO DUPLICATION OF THE DISTAL LONG ARM OF CHROMOSOME-19, American journal of medical genetics, 71(3), 1997, pp. 325-328
PATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME-14 - A CASE-REPORT AND REVIEW
Authors: COTTER PD KAFFE S MCCURDY LD JHAVERI M WILLNER JP HIRSCHHORN K
Citation: Pd. Cotter et al., PATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME-14 - A CASE-REPORT AND REVIEW, American journal of medical genetics, 70(1), 1997, pp. 74-79
SCREENING FOR THE MITOCHONDRIAL-DNA A3243G MUTATION IN CHILDREN WITH INSULIN-DEPENDENT DIABETES-MELLITUS
Authors: ABAD MM COTTER PD FODOR FH LARSON S GINSBERGFELLNER F DESNICK RJ ABDENUR JE
Citation: Mm. Abad et al., SCREENING FOR THE MITOCHONDRIAL-DNA A3243G MUTATION IN CHILDREN WITH INSULIN-DEPENDENT DIABETES-MELLITUS, Metabolism, clinical and experimental, 46(4), 1997, pp. 445-449
CDO - AN ONCOGENE-REGULATED, SERUM-REGULATED, AND ANCHORAGE-REGULATEDMEMBER OF THE IG FIBRONECTIN TYPE-III REPEAT FAMILY/
Authors: KANG JS GAO M FEINLEIB JL COTTER PD GUADAGNO SN KRAUSS RS
Citation: Js. Kang et al., CDO - AN ONCOGENE-REGULATED, SERUM-REGULATED, AND ANCHORAGE-REGULATEDMEMBER OF THE IG FIBRONECTIN TYPE-III REPEAT FAMILY/, The Journal of cell biology, 138(1), 1997, pp. 203-213
MOSAICISM FOR A SMALL SUPERNUMERARY RING X-CHROMOSOME IN A DYSMORPHIC, GROWTH-RETARDED MALE - MOS47,XXY 48,XXY,+R(X)/
Authors: MANEA SR GERSHIN IF BABU A WILLNER JP DESNICK RJ COTTER PD
Citation: Sr. Manea et al., MOSAICISM FOR A SMALL SUPERNUMERARY RING X-CHROMOSOME IN A DYSMORPHIC, GROWTH-RETARDED MALE - MOS47,XXY 48,XXY,+R(X)/, Clinical genetics, 52(6), 1997, pp. 432-435
HOMOZYGOSITY FOR PERICENTRIC INVERSIONS OF CHROMOSOME-9 - PRENATAL-DIAGNOSIS OF 2 CASES
Authors: COTTER PD BABU A MCCURDY LD CAGGANA M WILLNER JP DESNICK RJ
Citation: Pd. Cotter et al., HOMOZYGOSITY FOR PERICENTRIC INVERSIONS OF CHROMOSOME-9 - PRENATAL-DIAGNOSIS OF 2 CASES, Annales de genetique, 40(4), 1997, pp. 222-226
MOSAIC TRISOMY-14 WITH HEPATIC INVOLVEMENT
Authors: IGLESIAS A MCCURDY LD GLASS IA COTTER PD ILLUECA M PERENYI A SANSARICQ C
Citation: A. Iglesias et al., MOSAIC TRISOMY-14 WITH HEPATIC INVOLVEMENT, Annales de genetique, 40(2), 1997, pp. 104-108
PRENATAL-DIAGNOSIS OF A FETUS WITH 2 BALANCED DE-NOVO CHROMOSOME REARRANGEMENTS
Authors: COTTER PD CAGGANA M WILLNER JP BABU A DESNICK RJ
Citation: Pd. Cotter et al., PRENATAL-DIAGNOSIS OF A FETUS WITH 2 BALANCED DE-NOVO CHROMOSOME REARRANGEMENTS, American journal of medical genetics, 66(2), 1996, pp. 197-199
ASSIGNMENT OF THE HUMAN HOUSEKEEPING DELTA-AMINOLEVULINATE SYNTHASE GENE (ALAS1) TO CHROMOSOME BAND 3P21.1 BY PCR ANALYSIS OF SOMATIC-CELL HYBRIDS
Authors: COTTER PD DRABKIN HA VARKONY T SMITH DI BISHOP DF
Citation: Pd. Cotter et al., ASSIGNMENT OF THE HUMAN HOUSEKEEPING DELTA-AMINOLEVULINATE SYNTHASE GENE (ALAS1) TO CHROMOSOME BAND 3P21.1 BY PCR ANALYSIS OF SOMATIC-CELL HYBRIDS, Cytogenetics and cell genetics, 69(3-4), 1995, pp. 207-208
MOLECULAR DEFECTS OF ERYTHROID 5-AMINOLEVULINATE SYNTHASE IN X-LINKEDSIDEROBLASTIC ANEMIA
Authors: BOTTOMLEY SS MAY BK COX TC COTTER PD BISHOP DF
Citation: Ss. Bottomley et al., MOLECULAR DEFECTS OF ERYTHROID 5-AMINOLEVULINATE SYNTHASE IN X-LINKEDSIDEROBLASTIC ANEMIA, Journal of bioenergetics and biomembranes, 27(2), 1995, pp. 161-168
LATE-ONSET X-LINKED SIDEROBLASTIC ANEMIA
Authors: COTTER PD MAY A FITZSIMONS EJ HOUSTON T WOODCOCK BE ALSABAH AI WONG L BISHOP DF
Citation: Pd. Cotter et al., LATE-ONSET X-LINKED SIDEROBLASTIC ANEMIA, The Journal of clinical investigation, 96(4), 1995, pp. 2090-2096
PYRIDOXINE-REFRACTORY CONGENITAL SIDEROBLASTIC ANEMIA WITH EVIDENCE FOR AUTOSOMAL INHERITANCE - EXCLUSION OF LINKAGE TO ALAS2 AT XP11.21 BYPOLYMORPHISM ANALYSIS
Authors: JARDINE PE COTTER PD JOHNSON SA FITZSIMONS EJ TYFIELD L LUNT PW BISHOP DF
Citation: Pe. Jardine et al., PYRIDOXINE-REFRACTORY CONGENITAL SIDEROBLASTIC ANEMIA WITH EVIDENCE FOR AUTOSOMAL INHERITANCE - EXCLUSION OF LINKAGE TO ALAS2 AT XP11.21 BYPOLYMORPHISM ANALYSIS, Journal of Medical Genetics, 31(3), 1994, pp. 213-218
INSULIN-DEPENDENT DIABETES-MELLITUS (IDDM), DEAFNESS AND RENAL FANCONI-SYNDROME DUE TO A NOVEL MITOCHONDRIAL-DNA (MTDNA) DELETION
Authors: ABDENUR JE COTTER PD LIEBERMAN K WOLFE D DIKMAN SH WILLNER J BISHOP D DESNICK RJ
Citation: Je. Abdenur et al., INSULIN-DEPENDENT DIABETES-MELLITUS (IDDM), DEAFNESS AND RENAL FANCONI-SYNDROME DUE TO A NOVEL MITOCHONDRIAL-DNA (MTDNA) DELETION, Clinical research, 42(3), 1994, pp. 10000447-10000447
X-LINKED SIDEROBLASTIC ANEMIA - IDENTIFICATION OF THE MUTATION IN THEERYTHROID-SPECIFIC DELTA-AMINOLEVULINATE SYNTHASE GENE (ALAS2) IN THEORIGINAL FAMILY DESCRIBED BY COOLEY
Authors: COTTER PD RUCKNAGEL DL BISHOP DF
Citation: Pd. Cotter et al., X-LINKED SIDEROBLASTIC ANEMIA - IDENTIFICATION OF THE MUTATION IN THEERYTHROID-SPECIFIC DELTA-AMINOLEVULINATE SYNTHASE GENE (ALAS2) IN THEORIGINAL FAMILY DESCRIBED BY COOLEY, Blood, 84(11), 1994, pp. 3915-3924
DELETION OF THE LONG ARM OF CHROMOSOME-20 IN A PATIENT WITH SMALL-CELL LYMPHOCYTIC LYMPHOMA
Authors: COTTER PD TUMEWU P BROWETT PJ
Citation: Pd. Cotter et al., DELETION OF THE LONG ARM OF CHROMOSOME-20 IN A PATIENT WITH SMALL-CELL LYMPHOCYTIC LYMPHOMA, Cancer genetics and cytogenetics, 70(2), 1993, pp. 142-143
CONGENITAL SIDEROBLASTIC ANEMIA - CORRELATION OF THE MICROCYTIC, PYRIDOXINE-RESPONSIVE PHENOTYPE WITH CODING REGION MUTATIONS IN THE ERYTHROID DELTA-AMINOLEVULINATE SYNTHASE GENE
Authors: COTTER PD BISHOP DF
Citation: Pd. Cotter et Df. Bishop, CONGENITAL SIDEROBLASTIC ANEMIA - CORRELATION OF THE MICROCYTIC, PYRIDOXINE-RESPONSIVE PHENOTYPE WITH CODING REGION MUTATIONS IN THE ERYTHROID DELTA-AMINOLEVULINATE SYNTHASE GENE, American journal of human genetics, 53(3), 1993, pp. 145-145
Risultati: 1-25 |