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Results: 1-25 | 26-33 |
Results: 26-33/33
DE-NOVO MUTATIONS OF THE RET PROTOONCOGENE IN HIRSCHSPRUNGS-DISEASE
Authors: PELET A ATTIE T GOULET O ENG C PONDER BAJ MUNNICH A LYONNET S
Citation: A. Pelet et al., DE-NOVO MUTATIONS OF THE RET PROTOONCOGENE IN HIRSCHSPRUNGS-DISEASE, Lancet, 344(8939-4), 1994, pp. 1769-1770
MUTATIONS IN THE GENE ENCODING FIBROBLAST GROWTH-FACTOR RECEPTOR-3 INACHONDROPLASIA
Authors: ROUSSEAU F BONAVENTURE J LEGEAIMALLET L PELET A ROZET JM MAROTEAUX P LEMERRER M MUNNICH A
Citation: F. Rousseau et al., MUTATIONS IN THE GENE ENCODING FIBROBLAST GROWTH-FACTOR RECEPTOR-3 INACHONDROPLASIA, Nature, 371(6494), 1994, pp. 252-254
MUTATIONS OF THE RET PROTOONCOGENE IN HIRSCHSPRUNGS-DISEASE
Authors: EDERY P LYONNET S MULLIGAN LM PELET A DOW E ABEL L HOLDER S NIHOULFEKETE C PONDER BAJ MUNNICH A
Citation: P. Edery et al., MUTATIONS OF THE RET PROTOONCOGENE IN HIRSCHSPRUNGS-DISEASE, Nature, 367(6461), 1994, pp. 378-380
LONG-SEGMENT AND SHORT SEGMENT FAMILIAL HIRSCHSPRUNGS-DISEASE - VARIABLE CLINICAL EXPRESSION AT THE RET LOCUS
Authors: EDERY P PELET A MULLIGAN LM ABEL L ATTIE T DOW E BONNEAU D DAVID A FLINTOFF W JAN D JOURNEL H LACOMBE D LEMERRER M MEIJERS C PARENT P PHILIP N PLAUCHU H SARDA P VERLOES A NIHOULFEKETE C WILLIAMSON R PONDER BAJ MUNNICH A LYONNET S
Citation: P. Edery et al., LONG-SEGMENT AND SHORT SEGMENT FAMILIAL HIRSCHSPRUNGS-DISEASE - VARIABLE CLINICAL EXPRESSION AT THE RET LOCUS, Journal of Medical Genetics, 31(8), 1994, pp. 602-606
A GENE FOR HIRSCHSPRUNG DISEASE MAPS TO THE PROXIMAL LONG ARM OF CHROMOSOME-10
Authors: LYONNET S BOLINO A PELET A ABEL L NIHOULFEKETE C BRIARD ML MOKSIU V KAARIAINEN H MARTUCCIELLO G LERONE M PULITI A LUO Y WEISSENBACH J DEVOTO M MUNNICH A ROMEO G
Citation: S. Lyonnet et al., A GENE FOR HIRSCHSPRUNG DISEASE MAPS TO THE PROXIMAL LONG ARM OF CHROMOSOME-10, Nature genetics, 4(4), 1993, pp. 346-350
PRENATAL EXCLUSION OF X-LINKED HYDROCEPHALUS STENOSIS OF THE AQUEDUCTOF SYLVIUS SEQUENCE USING CLOSELY LINKED DNA MARKERS
Authors: SERVILLE F BENIT P SAUGIER P VIBERT M ROYER G PELET A CHERY M MUNNICH A LYONNET S
Citation: F. Serville et al., PRENATAL EXCLUSION OF X-LINKED HYDROCEPHALUS STENOSIS OF THE AQUEDUCTOF SYLVIUS SEQUENCE USING CLOSELY LINKED DNA MARKERS, Prenatal diagnosis, 13(6), 1993, pp. 435-439
PRENATAL-DIAGNOSIS AND GENETIC-COUNSELING IN ORNITHINE TRANSCARBAMYLASE DEFICIENCY
Authors: ROZET JM PELET A RABIER D SEGUES B SAUGIER P LYONNET S BONAITI C SAUDUBRAY JM KAMOUN P MUNNICH A
Citation: Jm. Rozet et al., PRENATAL-DIAGNOSIS AND GENETIC-COUNSELING IN ORNITHINE TRANSCARBAMYLASE DEFICIENCY, Annales de biologie clinique, 51(3-5), 1993, pp. 296-296
HIRSCHSPRUNG DISEASE - MAPPING OF A DOMINANT GENE CLOSELY LINKED TO THE RET LOCUS ON THE PROXIMAL LONG ARM OF CHROMOSOME-10
Authors: EDERY P LYONNET S ABEL L LEMERRER M PELET A FLINTOFF W NIHOULFEKETE C WEISSENBACH J MUNNICH A
Citation: P. Edery et al., HIRSCHSPRUNG DISEASE - MAPPING OF A DOMINANT GENE CLOSELY LINKED TO THE RET LOCUS ON THE PROXIMAL LONG ARM OF CHROMOSOME-10, American journal of human genetics, 53(3), 1993, pp. 996-996
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