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Results: 1-25/152
Authors:
DEMINA A
BOAS E
BEUTLER E
Citation: A. Demina et al., STRUCTURE AND LINKAGE RELATIONSHIPS OF THE REGION CONTAINING THE HUMAN L-TYPE PYRUVATE-KINASE (PKLR) AND GLUCOCEREBROSIDASE (GBA) GENES, Hematopathology and molecular hematology, 11(2), 1998, pp. 63-71
Authors:
JONES NL
LEE P
BEUTLER E
Citation: Nl. Jones et al., INITIAL CHARACTERIZATION OF THE HFE GENE-PRODUCT, Journal of investigative medicine, 46(1), 1998, pp. 71-71
Authors:
LEE PL
GELBART T
WEST C
HALLORAN C
BEUTLER E
Citation: Pl. Lee et al., THE HUMAN NRAMP2 GENE - CHARACTERIZATION OF THE GENE STRUCTURE, ALTERNATIVE SPLICING, PROMOTER REGION AND POLYMORPHISMS, Blood cells, molecules, & diseases, 24(9), 1998, pp. 199-215
Authors:
BEUTLER E
Citation: E. Beutler, COMMENTARY - THE NATURAL-HISTORY OF GAUCHER-DISEASE, Blood cells, molecules, & diseases, 24(5), 1998, pp. 82-82
Authors:
BEUTLER E
GELBART T
Citation: E. Beutler et T. Gelbart, HEMATOLOGICALLY IMPORTANT MUTATIONS - GAUCHER-DISEASE, Blood cells, molecules, & diseases, 24(1), 1998, pp. 2-8
Authors:
VLACHOS A
WESTWOOD B
LIPTON JM
BEUTLER E
Citation: A. Vlachos et al., G6PD MOUNT-SINAI - A NEW SEVERE HEMOLYTIC VARIANT CHARACTERIZED BY DUAL MUTATIONS AT NUCLEOTIDES 376G AND 1159T (N126D), Human mutation, 1998, pp. 154-155
Authors:
PETRIDES PE
LECOUTRE P
MULLERHOCKER J
MAGIN E
HARZER K
DEMINA A
BEUTLER E
Citation: Pe. Petrides et al., COINCIDENCE OF GAUCHERS-DISEASE DUE TO A PRIVATE MUTATION AND PH' POSITIVE CHRONIC MYELOID-LEUKEMIA, American journal of hematology, 59(1), 1998, pp. 87-90
Authors:
BEUTLER E
Citation: E. Beutler, OHNO,SUSUMU - THE FATHER OF X-INACTIVATION, Cytogenetics and cell genetics, 80(1-4), 1998, pp. 16-17
Authors:
BURKE W
THOMSON E
KHOURY MJ
MCDONNELL SM
PRESS N
ADAMS PC
BARTON JC
BEUTLER E
BRITTENHAM G
BUCHANAN A
CLAYTON EW
COGSWELL ME
MESLIN EM
MOTULSKY AG
POWELL LW
SIGAL E
WILFOND BS
COLLINS FS
Citation: W. Burke et al., HEREDITARY HEMOCHROMATOSIS - GENE DISCOVERY AND ITS IMPLICATIONS FOR POPULATION-BASED SCREENING, JAMA, the journal of the American Medical Association, 280(2), 1998, pp. 172-178
Authors:
WAGNER S
SIPE JC
ROMINE JS
BEUTLER E
KOZIOL JA
Citation: S. Wagner et al., BASE-LINE DISABILITY MEASURED BY HYPODENSE LESIONS ON MRI IN RELAPSING-REMITTING MULTIPLE-SCLEROSIS - RESULTS OF A CLADRIBINE STUDY, Neurology, 50(4), 1998, pp. 17003-17003
Authors:
BOAS FE
FORMAN L
BEUTLER E
Citation: Fe. Boas et al., PHOSPHATIDYLSERINE EXPOSURE AND RED-CELL VIABILITY IN RED-CELL AGING AND IN HEMOLYTIC-ANEMIA, Proceedings of the National Academy of Sciences of the United Statesof America, 95(6), 1998, pp. 3077-3081
Authors:
BEUTLER E
Citation: E. Beutler, TARGETED DISRUPTION OF THE HFE GENE, Proceedings of the National Academy of Sciences of the United Statesof America, 95(5), 1998, pp. 2033-2034
Authors:
BEUTLER E
GELBART T
DEMINA A
Citation: E. Beutler et al., RACIAL VARIABILITY IN THE UDP-GLUCURONOSYLTRANSFERASE-1 (UGT1A1) PROMOTER - A BALANCED POLYMORPHISM FOR REGULATION OF BILIRUBIN METABOLISM, Proceedings of the National Academy of Sciences of the United Statesof America, 95(14), 1998, pp. 8170-8174
Authors:
ALVAREZ R
ZARZA R
PUJADES A
OLIVA E
LASHERAS G
CALLIS M
RIBES A
BEUTLER E
CORRONS JLV
Citation: R. Alvarez et al., HEREDITARY NONSPHEROCYTIC HEMOLYTIC-ANEMIA DUE TO RED-BLOOD-CELL GLUTATHIONE SYNTHETASE DEFICIENCY - CLINICAL AND BIOLOGICAL FINDINGS IN 4 UNRELATED SPANISH PATIENTS, British Journal of Haematology, 102(1), 1998, pp. 297-297
Authors:
SCHNEIDER A
FORMAN L
WESTWOOD B
YIM C
LIN J
SINGH S
BEUTLER E
Citation: A. Schneider et al., THE RELATIONSHIP OF THE -5, -8, AND -24 VARIANT ALLELES IN AFRICAN-AMERICANS TO TRIOSEPHOSPHATE ISOMERASE (TPI) ENZYME-ACTIVITY AND TO TPI DEFICIENCY, Blood, 92(8), 1998, pp. 2959-2962
Authors:
DEMINA A
VARUGHESE KI
BARBOT J
FORMAN L
BEUTLER E
Citation: A. Demina et al., 6 PREVIOUSLY UNDESCRIBED PYRUVATE-KINASE MUTATIONS CAUSING ENZYME DEFICIENCY, Blood, 92(2), 1998, pp. 647-652
Authors:
BARTON JC
BEUTLER E
GELBART T
Citation: Jc. Barton et al., COINHERITANCE OF ALLELES ASSOCIATED WITH HEMOCHROMATOSIS AND HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME, Blood, 92(11), 1998, pp. 4480-4480
Authors:
DEMINA A
BEUTLER E
Citation: A. Demina et E. Beutler, 6 NEW GAUCHER-DISEASE MUTATIONS, Acta haematologica, 99(2), 1998, pp. 80-82
Authors:
WEIMER TA
SALZANO FM
WESTWOOD B
BEUTLER E
Citation: Ta. Weimer et al., G6PD VARIANTS IN 3 SOUTH-AMERICAN ETHNIC-GROUPS - POPULATION-DISTRIBUTION AND DESCRIPTION OF 2 NEW MUTATIONS, Human heredity, 48(2), 1998, pp. 92-96
Authors:
ROMINE JS
SIPE JC
KOZIOL JA
ZYROFF J
MCMILLAN R
BEUTLER E
Citation: Js. Romine et al., CLADRIBINE - USE IN THERAPY OF MULTIPLE-SCLEROSIS, Biodrugs, 7(5), 1997, pp. 386-393
Authors:
BEUTLER E
Citation: E. Beutler, COMMENTARY, Blood cells, molecules, & diseases, 23(8), 1997, pp. 145
Authors:
BEUTLER E
GELBART T
Citation: E. Beutler et T. Gelbart, HLA-H MUTATIONS IN THE ASHKENAZI JEWISH POPULATION, Blood cells, molecules, & diseases, 23(6), 1997, pp. 95-98
Authors:
MEDINA MD
VACA G
LOPEZGUIDO B
WESTWOOD B
BEUTLER E
Citation: Md. Medina et al., MOLECULAR-GENETICS OF GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY INMEXICO, Blood cells, molecules, & diseases, 23(5), 1997, pp. 88-94
Authors:
BEUTLER E
WEST C
BRITTON HA
HARRIS J
FORMAN L
Citation: E. Beutler et al., GLUCOSEPHOSPHATE ISOMERASE (GPI) DEFICIENCY MUTATIONS ASSOCIATED WITHHEREDITARY NONSPHEROCYTIC HEMOLYTIC-ANEMIA (HNSHA), Blood cells, molecules, & diseases, 23(20), 1997, pp. 402-409
Authors:
XU WM
BEUTLER E
Citation: Wm. Xu et E. Beutler, AN EXONIC POLYMORPHISM IN THE HUMAN GLUCOSE PHOSPHATE ISOMERASE (GPI)GENE, Blood cells, molecules, & diseases, 23(18), 1997, pp. 377-379