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Results: 1-19 |
Results: 19
A LOCUS FOR AUTOSOMAL RECESSIVE HYPODONTIA WITH ASSOCIATED DENTAL ANOMALIES MAPS TO CHROMOSOME 16Q12.1
Authors: AHMAD W BRANCOLINI V ULHAQUE MF LAM H ULHAQUE S HAIDER M MAIMON A AITA VM OWEN J BROWN D ZEGARELLI DJ AHMAD M OTT J CHRISTIANO AM
Citation: W. Ahmad et al., A LOCUS FOR AUTOSOMAL RECESSIVE HYPODONTIA WITH ASSOCIATED DENTAL ANOMALIES MAPS TO CHROMOSOME 16Q12.1, American journal of human genetics, 62(4), 1998, pp. 987-991
5 FAMILIES WITH ARGININE(519)-CYSTEINE MUTATION IN COL2A1 - EVIDENCE FOR 3 DISTINCT FOUNDERS
Authors: BLEASEL JF HOLDERBAUM D BRANCOLINI V MOSKOWITZ RW CONSIDINE EL PROCKOP DJ DEVOTO M WILLIAMS CJ
Citation: Jf. Bleasel et al., 5 FAMILIES WITH ARGININE(519)-CYSTEINE MUTATION IN COL2A1 - EVIDENCE FOR 3 DISTINCT FOUNDERS, Human mutation, 12(3), 1998, pp. 172-176
MAPPING OF A GENE FOR HUMAN LEFT-RIGHT AXIS MALFORMATIONS TO 6P21.1
Authors: VITALE E BRANCOLINI V DERIENZO A BIRD L WEBER J SCHWALB M DEVOTO M CASEY B
Citation: E. Vitale et al., MAPPING OF A GENE FOR HUMAN LEFT-RIGHT AXIS MALFORMATIONS TO 6P21.1, European journal of human genetics, 6, 1998, pp. 503-503
ALOPECIA UNIVERSALIS ASSOCIATED WITH A MUTATION IN THE HUMAN HAIRLESSGENE
Authors: AHMAD W HAQUE WFU BRANCOLINI V TSOU HC HAQUE SU LAM H AITA VM OWEN J DEBLAQUIERE M FRANK J CSERHALMIFRIEDMAN PB LEASK A MCGRATH JA PEACOCKE M AHMAD M OTT J CHRISTIANO AM
Citation: W. Ahmad et al., ALOPECIA UNIVERSALIS ASSOCIATED WITH A MUTATION IN THE HUMAN HAIRLESSGENE, Science, 279(5351), 1998, pp. 720-724
GENETIC-HETEROGENEITY IN AUTOSOMAL RECESSIVE HEREDITARY MOTOR AND SENSORY NEUROPATHY WITH FOCALLY FOLDED MYELIN SHEATHS (CMT4B)
Authors: GAMBARDELLA A BOLINO A MUGLIA M VALENTINO P BONO F OLIVERI RL SABATELLI M BRANCOLINI V VANBROECKHOVEN C ROMEO G DEVOTO M QUATTRONE A
Citation: A. Gambardella et al., GENETIC-HETEROGENEITY IN AUTOSOMAL RECESSIVE HEREDITARY MOTOR AND SENSORY NEUROPATHY WITH FOCALLY FOLDED MYELIN SHEATHS (CMT4B), Neurology, 50(3), 1998, pp. 799-801
MOLECULAR-BASIS OF ALOPECIA UNIVERSALIS - POSITIONAL-CANDIDATE CLONING OF THE HUMAN HAIRLESS GENE AND IDENTIFICATION OF A MUTATION
Authors: CHRISTIANO AM ULHAQUE MF BRANCOLINI V ULHAQUE S LAM H AITA V FRANK J CSERHALMIFRIEDMAN PB LEASK A MCGRATH JA AHMAD M OTT J AHMAD W
Citation: Am. Christiano et al., MOLECULAR-BASIS OF ALOPECIA UNIVERSALIS - POSITIONAL-CANDIDATE CLONING OF THE HUMAN HAIRLESS GENE AND IDENTIFICATION OF A MUTATION, Journal of investigative dermatology, 110(4), 1998, pp. 500-500
A LOCUS FOR AUTOSOMAL RECESSIVE HYPODONTIA MAPS TO CHROMOSOME 16Q12.1
Authors: AHMAD W BRANCOLINI V ULHAQUE MF LAM H ULHAQUE S HAIDER M MAIMON A AITA V AHMAD M OTT J CHRISTIANO AM
Citation: W. Ahmad et al., A LOCUS FOR AUTOSOMAL RECESSIVE HYPODONTIA MAPS TO CHROMOSOME 16Q12.1, Journal of investigative dermatology, 110(4), 1998, pp. 578-578
UNUSUAL CLINICAL-FEATURES AND EARLY BRAIN MRI LESIONS IN A FAMILY WITH CEREBRAL AUTOSOMAL-DOMINANT ARTERIOPATHY
Authors: MALANDRINI A CARRERA P CIACCI G GONNELLI S VILLANOVA M PALMERI S VISMARA L BRANCOLINI V SIGNORINI E FERRARI M GUAZZI GC
Citation: A. Malandrini et al., UNUSUAL CLINICAL-FEATURES AND EARLY BRAIN MRI LESIONS IN A FAMILY WITH CEREBRAL AUTOSOMAL-DOMINANT ARTERIOPATHY, Neurology, 48(5), 1997, pp. 1200-1203
LINKAGE OF CHONDROCALCINOSIS TO CHROMOSOME 5P15.1-.2 IN A LARGE ARGENTINEAN PEDIGREE
Authors: WILLIAMS CJ HARDWICK LJ BUTCHER S CONSIDINE E NICOD A WALSH S PROCKOP DJ CAIERO F REGINATO AJ BRANCOLINI V DEVOTO M CARR A LATHROP M WORDSWORTH BF
Citation: Cj. Williams et al., LINKAGE OF CHONDROCALCINOSIS TO CHROMOSOME 5P15.1-.2 IN A LARGE ARGENTINEAN PEDIGREE, Arthritis and rheumatism, 40(9), 1997, pp. 1736-1736
THE ROLE OF MMAC1 MUTATIONS IN EARLY-ONSET BREAST-CANCER - CAUSATIVE IN ASSOCIATION WITH COWDEN-SYNDROME AND EXCLUDED IN BRCA1-NEGATIVE CASES
Authors: TSOU HC TENG DHF PING XL BRANCOLINI V DAVIS T HU R XIE XX GRUENER AC SCHRAGER CA CHRISTIANO AM ENG C STECK P OTT J TAVTIGIAN SV PEACOCKE M
Citation: Hc. Tsou et al., THE ROLE OF MMAC1 MUTATIONS IN EARLY-ONSET BREAST-CANCER - CAUSATIVE IN ASSOCIATION WITH COWDEN-SYNDROME AND EXCLUDED IN BRCA1-NEGATIVE CASES, American journal of human genetics, 61(5), 1997, pp. 1036-1043
A NEW VERSION OF CYRILLIC - OVERVIEW
Authors: FANN CSJ BRANCOLINI V
Citation: Csj. Fann et V. Brancolini, A NEW VERSION OF CYRILLIC - OVERVIEW, European journal of human genetics, 4(3), 1996, pp. 188-188
LOCALIZATION OF A GENE RESPONSIBLE FOR AUTOSOMAL RECESSIVE DEMYELINATING NEUROPATHY WITH FOCALLY FOLDED MYELIN SHEATHS TO CHROMOSOME 11Q23 BY HOMOZYGOSITY MAPPING AND HAPLOTYPE SHARING
Authors: BOLINO A BRANCOLINI V BONO F BRUNI A GAMBARDELLA A ROMEO G QUATTRONE A DEVOTO M
Citation: A. Bolino et al., LOCALIZATION OF A GENE RESPONSIBLE FOR AUTOSOMAL RECESSIVE DEMYELINATING NEUROPATHY WITH FOCALLY FOLDED MYELIN SHEATHS TO CHROMOSOME 11Q23 BY HOMOZYGOSITY MAPPING AND HAPLOTYPE SHARING, Human molecular genetics, 5(7), 1996, pp. 1051-1054
EXCLUSION OF LINKAGE BETWEEN RET AND NEURONAL INTESTINAL DYSPLASIA TYPE-B
Authors: BARONE V WEBER D LUO Y BRANCOLINI V DEVOTO M ROMEO G
Citation: V. Barone et al., EXCLUSION OF LINKAGE BETWEEN RET AND NEURONAL INTESTINAL DYSPLASIA TYPE-B, American journal of medical genetics, 62(2), 1996, pp. 195-198
LOCUS FOR A NOVEL SYNDROMIC FORM OF NEURONAL INTESTINAL PSEUDOOBSTRUCTION MAPS TO XQ28
Authors: AURICCHIO A BRANCOLINI V CASARI G MILLA PJ SMITH VV DEVOTO M BALLABIO A
Citation: A. Auricchio et al., LOCUS FOR A NOVEL SYNDROMIC FORM OF NEURONAL INTESTINAL PSEUDOOBSTRUCTION MAPS TO XQ28, American journal of human genetics, 58(4), 1996, pp. 743-748
CLINICOPATHOLOGICAL AND GENETIC-STUDIES OF 2 FURTHER ITALIAN FAMILIESWITH CEREBRAL AUTOSOMAL-DOMINANT ARTERIOPATHY
Authors: MALANDRINI A CARRERA P PALMERI S CAVALLARO T FABRIZI GM VILLANOVA M FATTAPPOSTA M VISMARA L BRANCOLINI V TANGANELLI P CALI A MOROCUTTI C ZEVIANI M FERRARI M GUAZZI GC
Citation: A. Malandrini et al., CLINICOPATHOLOGICAL AND GENETIC-STUDIES OF 2 FURTHER ITALIAN FAMILIESWITH CEREBRAL AUTOSOMAL-DOMINANT ARTERIOPATHY, Acta Neuropathologica, 92(2), 1996, pp. 115-122
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
HOMOZYGOSITY MAPPING OF A NEW FORM OF HMSN - AUTOSOMAL RECESSIVE HYPERMYELINATING NEUROPATHY
Authors: BOLINO A BRANCOLINI V QUATTRONE A GAMBARDELLA A ROMEO G DEVOTO M
Citation: A. Bolino et al., HOMOZYGOSITY MAPPING OF A NEW FORM OF HMSN - AUTOSOMAL RECESSIVE HYPERMYELINATING NEUROPATHY, American journal of human genetics, 57(4), 1995, pp. 1868-1868
CAPILLARY ZONE ELECTROPHORESIS OF POLYMERASE CHAIN REACTION-AMPLIFIEDDNA FRAGMENTS IN POLYMER NETWORKS - THE CASE OF GATT MICROSATELLITES IN CYSTIC-FIBROSIS
Authors: GELFI C ORSI A RIGHETTI PG BRANCOLINI V CREMONESI L FERRARI M
Citation: C. Gelfi et al., CAPILLARY ZONE ELECTROPHORESIS OF POLYMERASE CHAIN REACTION-AMPLIFIEDDNA FRAGMENTS IN POLYMER NETWORKS - THE CASE OF GATT MICROSATELLITES IN CYSTIC-FIBROSIS, Electrophoresis, 15(5), 1994, pp. 640-643
CAPILLARY ELECTROPHORESIS IN POLYMER NETWORKS FOR ANALYSIS OF PCR PRODUCTS - DETECTION OF DELTA-F508 MUTATION IN CYSTIC-FIBROSIS
Authors: GELFI C RIGHETTI PG BRANCOLINI V CREMONESI L FERRARI M
Citation: C. Gelfi et al., CAPILLARY ELECTROPHORESIS IN POLYMER NETWORKS FOR ANALYSIS OF PCR PRODUCTS - DETECTION OF DELTA-F508 MUTATION IN CYSTIC-FIBROSIS, Clinical chemistry, 40(8), 1994, pp. 1603-1605
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