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Results: 1-21 |
Results: 21
A HOMEOBOX GENE, HLXB9, IS THE MAJOR LOCUS FOR DOMINANTLY INHERITED SACRAL AGENESIS
Authors: ROSS AJ RUIZPEREZ V WANG YM HAGAN DM SCHERER S LYNCH SA LINDSAY S CUSTARD E BELLONI E WILSON DI WADEY R GOODMAN F ORSTAVIK KH MONCLAIR T ROBSON S REARDON W BURN J SCAMBLER P STRACHAN T
Citation: Aj. Ross et al., A HOMEOBOX GENE, HLXB9, IS THE MAJOR LOCUS FOR DOMINANTLY INHERITED SACRAL AGENESIS, Nature genetics, 20(4), 1998, pp. 358-361
CHARACTERIZATION OF DEVELOPMENTAL PATHOLOGIES AT 7Q36 - HOLOPROSENCEPHALY (HPE) AND SACRAL AGENESIS (SA)
Authors: BELLONI E VERDERIO D ROMMENS JM HUIZENGA J SHI XM SIEGELBARTELT J ROESSLER E MUENKE M FERRARI M TSUI LC SCHERER SW
Citation: E. Belloni et al., CHARACTERIZATION OF DEVELOPMENTAL PATHOLOGIES AT 7Q36 - HOLOPROSENCEPHALY (HPE) AND SACRAL AGENESIS (SA), European journal of human genetics, 6, 1998, pp. 4025-4025
ANALYSIS OF THE HUMAN SONIC-HEDGEHOG CODING AND PROMOTER REGIONS IN SACRAL AGENESIS, TRIPHALANGEAL THUMB, AND MIRROR POLYDACTYLY
Authors: VARGAS FR ROESSLER E GAUDENZ K BELLONI E WHITEHEAD AS KIRKE PN MILLS JL HOOPER G STEVENSON RE CORDEIRO I CORREIA P FELIX T GEREIGE R CUNNINGHAM ML CANUN S ANTONARAKIS SE STRACHAN T TSUI LC SCHERER SW MUENKE M
Citation: Fr. Vargas et al., ANALYSIS OF THE HUMAN SONIC-HEDGEHOG CODING AND PROMOTER REGIONS IN SACRAL AGENESIS, TRIPHALANGEAL THUMB, AND MIRROR POLYDACTYLY, Human genetics, 102(4), 1998, pp. 387-392
MUTATIONS IN THE C-TERMINAL DOMAIN OF SONIC HEDGEHOG CAUSE HOLOPROSENCEPHALY
Authors: ROESSLER E BELLONI E GAUDENZ K VARGAS F SCHERER SW TSUI LC MUENKE M
Citation: E. Roessler et al., MUTATIONS IN THE C-TERMINAL DOMAIN OF SONIC HEDGEHOG CAUSE HOLOPROSENCEPHALY, Human molecular genetics, 6(11), 1997, pp. 1847-1853
CYTOGENETIC REARRANGEMENTS INVOLVING THE LOSS OF THE SONIC-HEDGEHOG GENE AT 7Q36 CAUSE HOLOPROSENCEPHALY
Authors: ROESSLER E WARD DE GAUDENZ K BELLONI E SCHERER SW DONNAI D SIEGELBARTELT J TSUI LC MUENKE M
Citation: E. Roessler et al., CYTOGENETIC REARRANGEMENTS INVOLVING THE LOSS OF THE SONIC-HEDGEHOG GENE AT 7Q36 CAUSE HOLOPROSENCEPHALY, Human genetics, 100(2), 1997, pp. 172-181
MUTATIONAL AND FUNCTIONAL-STUDIES OF THE HUMAN SONIC HEDGEHOG GENE ASA CAUSE FOR HOLOPROSENCEPHALY
Authors: ROESSLER E GAUDENZ K VARGAS F BELLONI E SCHERER SW TSUI LC RAO L GOLDEN J MUENKE M
Citation: E. Roessler et al., MUTATIONAL AND FUNCTIONAL-STUDIES OF THE HUMAN SONIC HEDGEHOG GENE ASA CAUSE FOR HOLOPROSENCEPHALY, American journal of human genetics, 61(4), 1997, pp. 87-87
SACRAL AGENESIS AND HOLOPROSENCEPHALY ASSOCIATED WITH A SUBMICROSCOPIC 7Q36 DELETION
Authors: SIU VM BELLONI E SHI XM TSUI LC SCHERER SW
Citation: Vm. Siu et al., SACRAL AGENESIS AND HOLOPROSENCEPHALY ASSOCIATED WITH A SUBMICROSCOPIC 7Q36 DELETION, American journal of human genetics, 61(4), 1997, pp. 638-638
CHARACTERIZATION OF DEVELOPMENTAL DISORDERS MAPPING TO 7Q36
Authors: BELLONI E ROESSLER E MUENKE M ROMMENS J SHI XM HUIZENGA J FERRARI M SIEGELBARTELT J TSUI LC SCHERER SW
Citation: E. Belloni et al., CHARACTERIZATION OF DEVELOPMENTAL DISORDERS MAPPING TO 7Q36, American journal of human genetics, 61(4), 1997, pp. 1341-1341
EXCLUSION OF THE HUMAN SONIC HEDGEHOG CODING AND PROMOTER REGIONS AS A CANDIDATE GENE FOR SACRAL AGENESIS, FAMILIAL NEURAL-TUBE DEFECTS, TRIPHALANGEAL THUMB AND MIRROR POLYDACTYLY
Authors: VARGAS F ROESSLER E WHITEHEAD S HOOPER G STEVENSON RE CORDEIRO I CORREIA P SCHWARTZ I ANTONARAKIS S STRACHAN T GEREIGE R BELLONI E SCHERER S TSUI LC MUENKE M
Citation: F. Vargas et al., EXCLUSION OF THE HUMAN SONIC HEDGEHOG CODING AND PROMOTER REGIONS AS A CANDIDATE GENE FOR SACRAL AGENESIS, FAMILIAL NEURAL-TUBE DEFECTS, TRIPHALANGEAL THUMB AND MIRROR POLYDACTYLY, American journal of human genetics, 61(4), 1997, pp. 2413-2413
IDENTIFICATION OF SONIC HEDGEHOG AS A CANDIDATE GENE RESPONSIBLE FOR HOLOPROSENCEPHALY
Authors: BELLONI E MUENKE M ROESSLER E TRAVERSO G SIEGELBARTELT J FRUMKIN A MITCHELL HF DONISKELLER H HELMS C HING AV HENG HHQ KOOP B MARTINDALE D ROMMENS JM TSUI LC SCHERER SW
Citation: E. Belloni et al., IDENTIFICATION OF SONIC HEDGEHOG AS A CANDIDATE GENE RESPONSIBLE FOR HOLOPROSENCEPHALY, Nature genetics, 14(3), 1996, pp. 353-356
MUTATIONS IN THE HUMAN SONIC HEDGEHOG GENE CAUSE HOLOPROSENCEPHALY
Authors: ROESSLER E BELLONI E GAUDENZ K JAY P BERTA P SCHERER SW TSUI LC MUENKE M
Citation: E. Roessler et al., MUTATIONS IN THE HUMAN SONIC HEDGEHOG GENE CAUSE HOLOPROSENCEPHALY, Nature genetics, 14(3), 1996, pp. 357-360
CHROMOSOMAL LOCALIZATION IN MOUSE AND HUMAN OF THE VASOACTIVE-INTESTINAL-PEPTIDE RECEPTOR-TYPE-2 GENE - A POSSIBLE CONTRIBUTOR TO THE HOLOPROSENCEPHALY-3 PHENOTYPE
Authors: MACKAY M FANTES J SCHERER S BOYLE S WEST K TSUI LC BELLONI E LUTZ E VANHEYNINGEN V HARMAR AJ
Citation: M. Mackay et al., CHROMOSOMAL LOCALIZATION IN MOUSE AND HUMAN OF THE VASOACTIVE-INTESTINAL-PEPTIDE RECEPTOR-TYPE-2 GENE - A POSSIBLE CONTRIBUTOR TO THE HOLOPROSENCEPHALY-3 PHENOTYPE, Genomics, 37(3), 1996, pp. 345-353
LOCALIZATION OF 2 METABOTROPIC GLUTAMATE-RECEPTOR GENES, GRM3 AND GRM8, TO HUMAN-CHROMOSOME 7Q
Authors: SCHERER SW DUVOISIN RM KUHN R HENG HHQ BELLONI E TSUI LC
Citation: Sw. Scherer et al., LOCALIZATION OF 2 METABOTROPIC GLUTAMATE-RECEPTOR GENES, GRM3 AND GRM8, TO HUMAN-CHROMOSOME 7Q, Genomics, 31(2), 1996, pp. 230-233
SEARCH FOR MUTATIONS IN PANCREATIC SUFFICIENT CYSTIC-FIBROSIS ITALIANPATIENTS - DETECTION OF 90-PERCENT OF MOLECULAR DEFECTS AND IDENTIFICATION OF 3 NOVEL MUTATIONS
Authors: BRANCOLINI V CREMONESI L BELLONI E PAPPALARDO E BORDONI R SEIA M RUSSO S PADOAN R GIUNTA A FERRARI M
Citation: V. Brancolini et al., SEARCH FOR MUTATIONS IN PANCREATIC SUFFICIENT CYSTIC-FIBROSIS ITALIANPATIENTS - DETECTION OF 90-PERCENT OF MOLECULAR DEFECTS AND IDENTIFICATION OF 3 NOVEL MUTATIONS, Human genetics, 96(3), 1995, pp. 312-318
PHYSICAL MAPPING OF THE LONG ARM OF CHROMOSOME-7
Authors: TSUI LC SCHERER SW VANDENBERG A TRAVERSO G LITTLE S BELLONI E OSBORNE L HUIZENGA J SHI X HENG HHQ
Citation: Lc. Tsui et al., PHYSICAL MAPPING OF THE LONG ARM OF CHROMOSOME-7, Cytogenetics and cell genetics, 71(1), 1995, pp. 22-22
CHARACTERIZATION OF HOLOPROSENCEPHALY MINIMAL CRITICAL REGION IN 7Q36
Authors: BELLONI E FRUMKIN A SCHERER SW ROVET J MITCHELL H BARNOSKI B HING A DONISKELLER H TSUI LC MUENKE M
Citation: E. Belloni et al., CHARACTERIZATION OF HOLOPROSENCEPHALY MINIMAL CRITICAL REGION IN 7Q36, Cytogenetics and cell genetics, 71(1), 1995, pp. 31-31
AN INTEGRATED MAP OF THE LONG ARM OF HUMAN-CHROMOSOME-7 - CLOSING THEGAPS
Authors: SCHERER S TRAVERSO G HUIZENGA J SODER S STREGGER S OSBORNE L BELLONI E HENG H ROMMENS JM TSUI LC
Citation: S. Scherer et al., AN INTEGRATED MAP OF THE LONG ARM OF HUMAN-CHROMOSOME-7 - CLOSING THEGAPS, American journal of human genetics, 57(4), 1995, pp. 71-71
CHARACTERIZATION OF HOLOPROSENCEPHALY MINIMAL CRITICAL REGION AT 7Q36
Authors: BELLONI E SCHERER SW SIEGELBARTELT J FRUMKIN A DONISKELLER H HELMS C HING AV ROESSLER E BARNOSKI B MITCHELL H MUENKE M TSUI LC
Citation: E. Belloni et al., CHARACTERIZATION OF HOLOPROSENCEPHALY MINIMAL CRITICAL REGION AT 7Q36, American journal of human genetics, 57(4), 1995, pp. 1487-1487
PHYSICAL MAPPING OF THE SPLIT HAND SPLIT FOOT LOCUS ON CHROMOSOME-7 AND IMPLICATION IN SYNDROMIC ECTRODACTYLY
Authors: SCHERER SW POORKAJ P MASSA H SODER S ALLEN T NUNES M GESHURI D WONG E BELLONI E LITTLE S ZHOU LM BECKER D KERE J IGNATIUS J NIIKAWA N FUKUSHIMA Y HASEGAWA T WEISSENBACH J BONCINELLI E TRASK B TSUI LC EVANS JP
Citation: Sw. Scherer et al., PHYSICAL MAPPING OF THE SPLIT HAND SPLIT FOOT LOCUS ON CHROMOSOME-7 AND IMPLICATION IN SYNDROMIC ECTRODACTYLY, Human molecular genetics, 3(8), 1994, pp. 1345-1354
A NOVEL MUTATION (M1V) IN THE TRANSLATION INITIATION CODON OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE, IN 3 CF CHROMOSOMES OF ITALIAN ORIGIN
Authors: CHEADLE JP BELLONI E FERRARI M MILLARJONES L MEREDITH AL
Citation: Jp. Cheadle et al., A NOVEL MUTATION (M1V) IN THE TRANSLATION INITIATION CODON OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE, IN 3 CF CHROMOSOMES OF ITALIAN ORIGIN, Human molecular genetics, 3(8), 1994, pp. 1431-1432
INFORMATIVITY OF INTRAGENIC MICROSATELLITES FOR CARRIER DETECTION ANDPRENATAL-DIAGNOSIS OF CYSTIC-FIBROSIS IN THE ITALIAN POPULATION
Authors: MAGNANI C CREMONESI L BELLONI E FERRARI M SEIA M RUSSO MP DEVOTO M RONCHETTO P ROMEO G
Citation: C. Magnani et al., INFORMATIVITY OF INTRAGENIC MICROSATELLITES FOR CARRIER DETECTION ANDPRENATAL-DIAGNOSIS OF CYSTIC-FIBROSIS IN THE ITALIAN POPULATION, Clinical genetics, 45(3), 1994, pp. 135-139
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