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Results: 1-15 |
Results: 15
NEONATAL SEVERE HYPERPARATHYROIDISM, SECONDARY HYPERPARATHYROIDISM, AND FAMILIAL HYPOCALCIURIC HYPERCALCEMIA - MULTIPLE DIFFERENT PHENOTYPES ASSOCIATED WITH AN INACTIVATING ALU INSERTION MUTATION OF THE CALCIUM-SENSING RECEPTOR GENE (VOL 71, PG 202, 1997)
Authors: COLE DEC JANICIC N SALISBURY SR HENDY GN
Citation: Dec. Cole et al., NEONATAL SEVERE HYPERPARATHYROIDISM, SECONDARY HYPERPARATHYROIDISM, AND FAMILIAL HYPOCALCIURIC HYPERCALCEMIA - MULTIPLE DIFFERENT PHENOTYPES ASSOCIATED WITH AN INACTIVATING ALU INSERTION MUTATION OF THE CALCIUM-SENSING RECEPTOR GENE (VOL 71, PG 202, 1997), American journal of medical genetics, 72(2), 1997, pp. 251-252
NEONATAL SEVERE HYPERPARATHYROIDISM, SECONDARY HYPERPARATHYROIDISM, AND FAMILIAL HYPOCALCIURIC HYPERCALCEMIA - MULTIPLE DIFFERENT PHENOTYPES ASSOCIATED WITH AN INACTIVATING ALU INSERTION MUTATION OF THE CALCIUM-SENSING RECEPTOR GENE
Authors: COLE DEC JANICIC N SALISBURY SR HENDY GN
Citation: Dec. Cole et al., NEONATAL SEVERE HYPERPARATHYROIDISM, SECONDARY HYPERPARATHYROIDISM, AND FAMILIAL HYPOCALCIURIC HYPERCALCEMIA - MULTIPLE DIFFERENT PHENOTYPES ASSOCIATED WITH AN INACTIVATING ALU INSERTION MUTATION OF THE CALCIUM-SENSING RECEPTOR GENE, American journal of medical genetics, 71(2), 1997, pp. 202-210
CALCIUM SENSING RECEPTOR GENE - ANALYSIS OF POLYMORPHISM FREQUENCY
Authors: RUBIN LA PELTEKOVA V JANICIC N LIEW CC HWANG D EVROVSKI J HENDY GN COLE DEC
Citation: La. Rubin et al., CALCIUM SENSING RECEPTOR GENE - ANALYSIS OF POLYMORPHISM FREQUENCY, Scandinavian journal of clinical & laboratory investigation, 57, 1997, pp. 122-125
MARKEDLY REDUCED ACTIVITY OF MUTANT CALCIUM-SENSING RECEPTOR WITH AN INSERTED ALU ELEMENT FROM A KINDRED WITH FAMILIAL HYPOCALCIURIC HYPERCALCEMIA AND NEONATAL SEVERE HYPERPARATHYROIDISM
Authors: BAI M JANICIC N TRIVEDI S QUINN SJ COLE DEC BROWN EM HENDY GN
Citation: M. Bai et al., MARKEDLY REDUCED ACTIVITY OF MUTANT CALCIUM-SENSING RECEPTOR WITH AN INSERTED ALU ELEMENT FROM A KINDRED WITH FAMILIAL HYPOCALCIURIC HYPERCALCEMIA AND NEONATAL SEVERE HYPERPARATHYROIDISM, The Journal of clinical investigation, 99(8), 1997, pp. 1917-1925
UTILITY OF BSM1 RFLP AT THE CALCIUM SENSING RECEPTOR LOCUS TO IDENTIFY TYPE AND LOCUS OF MUTATIONS RESPONSIBLE FOR FAMILIAL HYPOCALCIURIC HYPERCALCEMIA AND NEONATAL SEVERE HYPERPARATHYROIDISM
Authors: HUSTMYER FG JANICIC N COLE DEC HENDY GN PEACOCK M
Citation: Fg. Hustmyer et al., UTILITY OF BSM1 RFLP AT THE CALCIUM SENSING RECEPTOR LOCUS TO IDENTIFY TYPE AND LOCUS OF MUTATIONS RESPONSIBLE FOR FAMILIAL HYPOCALCIURIC HYPERCALCEMIA AND NEONATAL SEVERE HYPERPARATHYROIDISM, Journal of bone and mineral research, 11, 1996, pp. 21-21
MARKEDLY REDUCED ACTIVITY OF MUTANT CA2-SENSING RECEPTOR FROM AN FHH KINDRED WITH AN INSERTED ALU ELEMENT()
Authors: BAI M JANICIC N QUINN S COLE DEC BROWN EM HENDY GN
Citation: M. Bai et al., MARKEDLY REDUCED ACTIVITY OF MUTANT CA2-SENSING RECEPTOR FROM AN FHH KINDRED WITH AN INSERTED ALU ELEMENT(), Journal of bone and mineral research, 11, 1996, pp. 477-477
ROLE OF THE RET PROTOONCOGENE IN SPORADIC HYPERPARATHYROIDISM AND IN HYPERPARATHYROIDISM OF MULTIPLE ENDOCRINE NEOPLASIA TYPE-2
Authors: PAUSOVA Z SOLIMAN E AMIZUKA N JANICIC N KONRAD EM ARNOLD A GOLTZMAN D HENDY GN
Citation: Z. Pausova et al., ROLE OF THE RET PROTOONCOGENE IN SPORADIC HYPERPARATHYROIDISM AND IN HYPERPARATHYROIDISM OF MULTIPLE ENDOCRINE NEOPLASIA TYPE-2, The Journal of clinical endocrinology and metabolism, 81(7), 1996, pp. 2711-2718
MAPPING OF THE CALCIUM-SENSING RECEPTOR GENE (CASR) TO HUMAN-CHROMOSOME 3Q13.3-21 BY FLUORESCENCE IN-SITU HYBRIDIZATION, AND LOCALIZATION TO RAT CHROMOSOME-11 AND MOUSE CHROMOSOME-16
Authors: JANICIC N SOLIMAN E PAUSOVA Z SELDIN MF RIVIERE M SZPIRER J SZPIRER C HENDY GN
Citation: N. Janicic et al., MAPPING OF THE CALCIUM-SENSING RECEPTOR GENE (CASR) TO HUMAN-CHROMOSOME 3Q13.3-21 BY FLUORESCENCE IN-SITU HYBRIDIZATION, AND LOCALIZATION TO RAT CHROMOSOME-11 AND MOUSE CHROMOSOME-16, Mammalian genome, 6(11), 1995, pp. 798-801
EXPRESSION OF THE RET PROTOONCOGENE IN HYPERPARATHYROID TISSUES - IMPLICATIONS FOR THE PATHOGENESIS OF THE PARATHYROID DISEASE IN MEN 2A
Authors: PAUSOVA Z SOLIMAN E AMIZUKA N JANICIC N KONRAD EM ARNOLD A GOLTZMAN D HENDY GN
Citation: Z. Pausova et al., EXPRESSION OF THE RET PROTOONCOGENE IN HYPERPARATHYROID TISSUES - IMPLICATIONS FOR THE PATHOGENESIS OF THE PARATHYROID DISEASE IN MEN 2A, Journal of bone and mineral research, 10, 1995, pp. 191-191
DE-NOVO EXPANSION OF AN ALU INSERTION MUTATION OF THE CA2-SENSING RECEPTOR GENE IN FAMILIAL HYPOCALCIURIC HYPERCALCEMIA AND NEONATAL SEVEREHYPERPARATHYROIDISM()
Authors: JANICIC N PAUSOVA Z COLE DEC HENDY GN
Citation: N. Janicic et al., DE-NOVO EXPANSION OF AN ALU INSERTION MUTATION OF THE CA2-SENSING RECEPTOR GENE IN FAMILIAL HYPOCALCIURIC HYPERCALCEMIA AND NEONATAL SEVEREHYPERPARATHYROIDISM(), Journal of bone and mineral research, 10, 1995, pp. 191-191
MAPPING OF THE CALCIUM-SENSING RECEPTOR GENE (CASR) TO HUMAN CHROMOSOME-3Q13.3-21 BY FLUORESCENCE IN-SITU HYBRIDIZATION, AND LOCALIZATION TO RAT CHROMOSOME-11 AND MOUSE CHROMOSOME-16
Authors: JANICIC N SOLIMAN E PAUSOVA Z SELDIN MF SZPIRER C HENDY GN
Citation: N. Janicic et al., MAPPING OF THE CALCIUM-SENSING RECEPTOR GENE (CASR) TO HUMAN CHROMOSOME-3Q13.3-21 BY FLUORESCENCE IN-SITU HYBRIDIZATION, AND LOCALIZATION TO RAT CHROMOSOME-11 AND MOUSE CHROMOSOME-16, Journal of bone and mineral research, 10, 1995, pp. 377-377
A UNIQUE ALU INSERTION MUTATION IN THE CA-SENSING RECEPTOR GENE UNDERLIES THE CLUSTERING OF NEONATAL SEVERE HYPERPARATHYROIDISM IN SOUTH-WESTERN NOVA-SCOTIA(+)
Authors: COLE DEC JANICIC N PAUSOVA Z SALISBURY SR HENDY GN
Citation: Dec. Cole et al., A UNIQUE ALU INSERTION MUTATION IN THE CA-SENSING RECEPTOR GENE UNDERLIES THE CLUSTERING OF NEONATAL SEVERE HYPERPARATHYROIDISM IN SOUTH-WESTERN NOVA-SCOTIA(+), Journal of bone and mineral research, 10, 1995, pp. 511-511
DE-NOVO EXPANSION OF AN ALU INSERTION MUTATION OF THE CA2-SENSING RECEPTOR GENE IN FAMILIAL HYPOCALCIURIC HYPERCALCEMIA AND NEONATAL SEVEREHYPERPARATHYROIDISM()
Authors: JANICIC N COLE DEC HENDY GN
Citation: N. Janicic et al., DE-NOVO EXPANSION OF AN ALU INSERTION MUTATION OF THE CA2-SENSING RECEPTOR GENE IN FAMILIAL HYPOCALCIURIC HYPERCALCEMIA AND NEONATAL SEVEREHYPERPARATHYROIDISM(), American journal of human genetics, 57(4), 1995, pp. 1243-1243
INSERTION OF AN ALU SEQUENCE IN THE CA2-SENSING RECEPTOR GENE IN FAMILIAL HYPOCALCIURIC HYPERCALCEMIA AND NEONATAL SEVERE HYPERPARATHYROIDISM()
Authors: JANICIC N PAUSOVA Z COLE DEC HENDY GN
Citation: N. Janicic et al., INSERTION OF AN ALU SEQUENCE IN THE CA2-SENSING RECEPTOR GENE IN FAMILIAL HYPOCALCIURIC HYPERCALCEMIA AND NEONATAL SEVERE HYPERPARATHYROIDISM(), American journal of human genetics, 56(4), 1995, pp. 880-886
CLONING OF A PARATHYROID HORMONE PARATHYROID HORMONE-RELATED PEPTIDE RECEPTOR (PTHR) CDNA FROM A RAT OSTEOSARCOMA (UMR-106) CELL-LINE - CHROMOSOMAL ASSIGNMENT OF THE GENE IN THE HUMAN, MOUSE, AND RAT GENOMES/
Authors: PAUSOVA Z BOURDON J CLAYTON D MATTEI MG SELDIN MF JANICIC N RIVIERE M SZPIRER J LEVAN G SZPIRER C GOLTZMAN D HENDY GN
Citation: Z. Pausova et al., CLONING OF A PARATHYROID HORMONE PARATHYROID HORMONE-RELATED PEPTIDE RECEPTOR (PTHR) CDNA FROM A RAT OSTEOSARCOMA (UMR-106) CELL-LINE - CHROMOSOMAL ASSIGNMENT OF THE GENE IN THE HUMAN, MOUSE, AND RAT GENOMES/, Genomics, 20(1), 1994, pp. 20-26
Risultati: 1-15 |