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Results: 1-15 |
Results: 15
LONG-TERM USE OF HIGH-DOSE BENZOATE AND DEXTROMETHORPHAN FOR THE TREATMENT OF NONKETOTIC HYPERGLYCINEMIA
Authors: HAMOSH A MAHER JF BELLUS GA RASMUSSEN SA JOHNSTON MV
Citation: A. Hamosh et al., LONG-TERM USE OF HIGH-DOSE BENZOATE AND DEXTROMETHORPHAN FOR THE TREATMENT OF NONKETOTIC HYPERGLYCINEMIA, The Journal of pediatrics, 132(4), 1998, pp. 709-713
ANALYSIS OF ACANTHOSIS NIGRICANS DUE TO A FIBROBLAST-GROWTH-FACTOR-RECEPTOR-3 (FGFR3) LYS-650-MET MUTATION
Authors: BELLUS GA WHALEN E NORRIS DA
Citation: Ga. Bellus et al., ANALYSIS OF ACANTHOSIS NIGRICANS DUE TO A FIBROBLAST-GROWTH-FACTOR-RECEPTOR-3 (FGFR3) LYS-650-MET MUTATION, Journal of investigative dermatology, 110(4), 1998, pp. 615-615
MUTATIONS IN FIBROBLAST-GROWTH-FACTOR RECEPTOR-3 IN SPORADIC CASES OFACHONDROPLASIA OCCUR EXCLUSIVELY ON THE PATERNALLY DERIVED CHROMOSOME
Authors: WILKIN DJ SZABO JK CAMERON R HENDERSON S BELLUS GA MACK ML KAITILA I LOUGHLIN J MUNNICH A SYKES B BONAVENTURE J FRANCOMANO CA
Citation: Dj. Wilkin et al., MUTATIONS IN FIBROBLAST-GROWTH-FACTOR RECEPTOR-3 IN SPORADIC CASES OFACHONDROPLASIA OCCUR EXCLUSIVELY ON THE PATERNALLY DERIVED CHROMOSOME, American journal of human genetics, 63(3), 1998, pp. 711-716
MUTATIONAL ANALYSIS OF FGFR3 IN THANATOPHORIC DYSPLASIA, TYPE-I
Authors: BELLUS GA BAKER A SPECTOR EB HUNTER AGW HECHT J LEWANDA AF SZABO J FRANCOMANO CA
Citation: Ga. Bellus et al., MUTATIONAL ANALYSIS OF FGFR3 IN THANATOPHORIC DYSPLASIA, TYPE-I, American journal of human genetics, 61(4), 1997, pp. 1908-1908
A UNIQUE POINT MUTATION IN THE FIBROBLAST-GROWTH-FACTOR-RECEPTOR-3 GENE (FGFR3) DEFINES A NEW CRANIOSYNOSTOSIS SYNDROME
Authors: MUENKE M GRIPP KW MCDONALDMCGINN DM GAUDENZ K WHITAKER LA BARTLETT SP MARKOWITZ RI ROBIN NH NWOKORO N MULVIHILL JJ LOSKEN HW MULLIKEN JB GUTTMACHER AE WILROY RS CLARKE LA HOLLWAY G ADES LC HAAN EA MULLEY JC COHEN MM BELLUS GA FRANCOMANO CA MOLONEY DM WALL SA WILKIE AOM ZACKAI EH
Citation: M. Muenke et al., A UNIQUE POINT MUTATION IN THE FIBROBLAST-GROWTH-FACTOR-RECEPTOR-3 GENE (FGFR3) DEFINES A NEW CRANIOSYNOSTOSIS SYNDROME, American journal of human genetics, 60(3), 1997, pp. 555-564
IDENTICAL MUTATIONS IN 3 DIFFERENT FIBROBLAST GROWTH-FACTOR RECEPTOR GENES IN AUTOSOMAL-DOMINANT CRANIOSYNOSTOSIS SYNDROMES
Authors: BELLUS GA GAUDENZ K ZACKAI EH CLARKE LA SZABO J FRANCOMANO CA MUENKE M
Citation: Ga. Bellus et al., IDENTICAL MUTATIONS IN 3 DIFFERENT FIBROBLAST GROWTH-FACTOR RECEPTOR GENES IN AUTOSOMAL-DOMINANT CRANIOSYNOSTOSIS SYNDROMES, Nature genetics, 14(2), 1996, pp. 174-176
A RECURRENT MUTATION IN THE TYROSINE KINASE DOMAIN OF FIBROBLAST GROWTH-FACTOR RECEPTOR-3 CAUSES HYPOCHONDROPLASIA
Authors: BELLUS GA MCINTOSH I SMITH EA AYLSWORTH AS KAITILA I HORTON WA GREENHAW GA HECHT JT FRANCOMANO CA
Citation: Ga. Bellus et al., A RECURRENT MUTATION IN THE TYROSINE KINASE DOMAIN OF FIBROBLAST GROWTH-FACTOR RECEPTOR-3 CAUSES HYPOCHONDROPLASIA, Nature genetics, 10(3), 1995, pp. 357-359
CONFIRMATORY LINKAGE OF HYPOCHONDROPLASIA TO CHROMOSOME ARM 4P
Authors: HECHT JT HERRERA CA GREENHAW GA FRANCOMANO CA BELLUS GA BLANTON SH
Citation: Jt. Hecht et al., CONFIRMATORY LINKAGE OF HYPOCHONDROPLASIA TO CHROMOSOME ARM 4P, American journal of medical genetics, 57(3), 1995, pp. 505-506
HYPOCHONDROPLASIA - A 2ND RECURRENT MUTATION OF FIBROBLAST GROWTH-FACTOR RECEPTOR-3 (EGFR3) AT NUCLEOTIDE 1620
Authors: BELLUS GA SZABO JK MCINTOSH I KAITILA I AYLSWORTH AS HECHT JT FRANCOMANO CA
Citation: Ga. Bellus et al., HYPOCHONDROPLASIA - A 2ND RECURRENT MUTATION OF FIBROBLAST GROWTH-FACTOR RECEPTOR-3 (EGFR3) AT NUCLEOTIDE 1620, American journal of human genetics, 57(4), 1995, pp. 240-240
LONG-TERM USE OF HIGH-DOSE BENZOATE AND DEXTROMETHORPHAN FOR THE TREATMENT OF NONKETOTIC HYPERGLYCINEMIA (NKH)
Authors: HAMOSH A MAHER JF BELLUS GA RASMUSSEN SA CUTTING GR JOHNSTON MV VALLE D
Citation: A. Hamosh et al., LONG-TERM USE OF HIGH-DOSE BENZOATE AND DEXTROMETHORPHAN FOR THE TREATMENT OF NONKETOTIC HYPERGLYCINEMIA (NKH), American journal of human genetics, 57(4), 1995, pp. 1025-1025
MUTATIONS IN FIBROBLAST GROWTH-FACTOR RECEPTORS - PHENOTYPIC CONSEQUENCES DURING EUKARYOTIC DEVELOPMENT
Authors: PARK WJ BELLUS GA JABS EW
Citation: Wj. Park et al., MUTATIONS IN FIBROBLAST GROWTH-FACTOR RECEPTORS - PHENOTYPIC CONSEQUENCES DURING EUKARYOTIC DEVELOPMENT, American journal of human genetics, 57(4), 1995, pp. 748-754
ACHONDROPLASIA IS DEFINED BY RECURRENT G380R MUTATIONS OF FGFR3
Authors: BELLUS GA HEFFERON TW DELUNA RIO HECHT JT HORTON WA MACHADO M KAITILA I MCINTOSH I FRANCOMANO CA
Citation: Ga. Bellus et al., ACHONDROPLASIA IS DEFINED BY RECURRENT G380R MUTATIONS OF FGFR3, American journal of human genetics, 56(2), 1995, pp. 368-373
LOCALIZATION OF THE ACHONDROPLASIA GENE TO THE DISTAL 2.5 MB OF HUMAN-CHROMOSOME-4P
Authors: FRANCOMANO CA DELUNA RIO HEFFERON TW BELLUS GA TURNER CE TAYLOR E MEYERS DA BLANTON SH MURRAY JC MCINTOSH I HECHT JT
Citation: Ca. Francomano et al., LOCALIZATION OF THE ACHONDROPLASIA GENE TO THE DISTAL 2.5 MB OF HUMAN-CHROMOSOME-4P, Human molecular genetics, 3(5), 1994, pp. 787-792
FIRST-TRIMESTER PRENATAL-DIAGNOSIS IN COUPLE AT RISK FOR HOMOZYGOUS ACHONDROPLASIA
Authors: BELLUS GA ESCALLON CS DELUNA RO SHUMWAY JB BLAKEMORE KJ MCINTOSH I FRANCOMANO CA
Citation: Ga. Bellus et al., FIRST-TRIMESTER PRENATAL-DIAGNOSIS IN COUPLE AT RISK FOR HOMOZYGOUS ACHONDROPLASIA, Lancet, 344(8935), 1994, pp. 1511-1512
LONG-TERM USE OF HIGH-DOSE BENZOATE AND DEXTROMETHORPHAN FOR THE TREATMENT OF NONKETOTIC HYPERGLYCINEMIA (NKH)
Authors: HAMOSH A MAHE JF BELLUS GA RASMUSSEN S CUTTING GR JOHNSTON MV VALLE D
Citation: A. Hamosh et al., LONG-TERM USE OF HIGH-DOSE BENZOATE AND DEXTROMETHORPHAN FOR THE TREATMENT OF NONKETOTIC HYPERGLYCINEMIA (NKH), Pediatric research, 35(4), 1994, pp. 10000152-10000152
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