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Results: 1-25 | 26-35
Results: 1-25/35
MOLECULAR-GENETICS OF EPHAROPHIMOSIS-PTOSIS-EPICANTHUS-INVERSUS-SYNDROME (BPES) - LOCUS REFINEMENT AND EXCLUSION OF CANDIDATE GENES
Authors: BISCEGLIA L DAMBROSIO L PIEMONTESE MR CARELLA M AMATI P BONNEAU D PILIA G GASPARINI P ZELANTE L
Citation: L. Bisceglia et al., MOLECULAR-GENETICS OF EPHAROPHIMOSIS-PTOSIS-EPICANTHUS-INVERSUS-SYNDROME (BPES) - LOCUS REFINEMENT AND EXCLUSION OF CANDIDATE GENES, European journal of human genetics, 6, 1998, pp. 4111-4111
CELLULAR RETINOL-BINDING PROTEIN-1 (RBP1) - A FREQUENT POLYMORPHISM, REFINED MAP POSITION AND EXCLUSION AS THE BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS-INVERSUS SYNDROME GENE
Authors: BISCEGLIA L DAMBROSIO L PIEMONTESE MR CARELLA M AMATI P BONNEAU D PILIA G GASPARINI P ZELANTE L
Citation: L. Bisceglia et al., CELLULAR RETINOL-BINDING PROTEIN-1 (RBP1) - A FREQUENT POLYMORPHISM, REFINED MAP POSITION AND EXCLUSION AS THE BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS-INVERSUS SYNDROME GENE, Molecular and cellular probes, 12(4), 1998, pp. 255-258
MULTIPLE SP1 SITES EFFICIENTLY DRIVE TRANSCRIPTION OF THE TATA-LESS PROMOTER OF THE HUMAN GLYPICAN-3 (GPC3) GENE
Authors: HUBER R SCHLESSINGER D PILIA G
Citation: R. Huber et al., MULTIPLE SP1 SITES EFFICIENTLY DRIVE TRANSCRIPTION OF THE TATA-LESS PROMOTER OF THE HUMAN GLYPICAN-3 (GPC3) GENE, Gene, 214(1-2), 1998, pp. 35-44
RECOMBINATION TRAPPING - AN IN-VIVO APPROACH TO RECOVER CDNAS ENCODEDIN YACS
Authors: MAZZARELLA R PILIA G
Citation: R. Mazzarella et G. Pilia, RECOMBINATION TRAPPING - AN IN-VIVO APPROACH TO RECOVER CDNAS ENCODEDIN YACS, Gene, 212(2), 1998, pp. 315-321
X-LINKED SITUS ABNORMALITIES RESULT FROM MUTATIONS IN ZIC3
Authors: GEBBIA M FERRERO GB PILIA G BASSI MT AYLSWORTH AS PENMANSPLITT M BIRD LM BAMFORTH JS BURN J SCHLESSINGER D NELSON DL CASEY B
Citation: M. Gebbia et al., X-LINKED SITUS ABNORMALITIES RESULT FROM MUTATIONS IN ZIC3, Nature genetics, 17(3), 1997, pp. 305-308
X-CHROMOSOME MAP AT 75-KB STS RESOLUTION, REVEALING EXTREMES OF RECOMBINATION AND GC CONTENT
Authors: NAGARAJA R MACMILLAN S KERE J JONES C GRIFFIN S SCHMATZ M TERRELL J SHOMAKER M JERMAK C HOTT C MASISI M MUMM S SRIVASTAVA A PILIA G FEATHERSTONE T MAZZARELLA R KESTERSON S MCCAULEY B RAILEY B BUROUGH F NOWOTNY V DURSO M STATES D BROWNSTEIN B SCHLESSINGER D
Citation: R. Nagaraja et al., X-CHROMOSOME MAP AT 75-KB STS RESOLUTION, REVEALING EXTREMES OF RECOMBINATION AND GC CONTENT, PCR methods and applications, 7(3), 1997, pp. 210-222
A YAC CONTIG SPANNING THE BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUSSYNDROME AND PROPIONIC ACIDEMIA LOCI
Authors: PIEMONTESE MR MEMEO E CARELLA M AMATI P CHOMEL JC BONNEAU D PILIA G CAO A DRABKIN H GEMMILL R ROMMENS J ZELANTE L GASPARINI P BISCEGLIA L
Citation: Mr. Piemontese et al., A YAC CONTIG SPANNING THE BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUSSYNDROME AND PROPIONIC ACIDEMIA LOCI, European journal of human genetics, 5(3), 1997, pp. 171-174
ANALYSIS OF EXON INTRON STRUCTURE AND 400 KB OF GENOMIC SEQUENCE SURROUNDING THE 5'-PROMOTER AND 3'-TERMINAL ENDS OF THE HUMAN GLYPICAN 3 (GPC3) GENE/
Authors: HUBER R CRISPONI L MAZZARELLA R CHEN CN SU Y SHIZUYA H CHEN EY CAO A PILIA G
Citation: R. Huber et al., ANALYSIS OF EXON INTRON STRUCTURE AND 400 KB OF GENOMIC SEQUENCE SURROUNDING THE 5'-PROMOTER AND 3'-TERMINAL ENDS OF THE HUMAN GLYPICAN 3 (GPC3) GENE/, Genomics, 45(1), 1997, pp. 48-58
SOX3 GENE MAPS NEAR DXS984 IN XQ27.1, WITHIN CANDIDATE REGIONS FOR SEVERAL X-LINKED DISORDERS
Authors: MUMM S ZUCCHI I PILIA G
Citation: S. Mumm et al., SOX3 GENE MAPS NEAR DXS984 IN XQ27.1, WITHIN CANDIDATE REGIONS FOR SEVERAL X-LINKED DISORDERS, American journal of medical genetics, 72(3), 1997, pp. 376-378
LARGE-SCALE DELETIONS IN THE GPC3 GENE MAY ACCOUNT FOR A MINORITY OF CASES OF SIMPSON-GOLABI-BEHMEL-SYNDROME
Authors: LINDSAY S IRELAND M OBRIEN O CLAYTONSMITH J HURST JA MANN J COLE T SAMPSON J SLANEY S SCHLESSINGER D BURN J PILIA G
Citation: S. Lindsay et al., LARGE-SCALE DELETIONS IN THE GPC3 GENE MAY ACCOUNT FOR A MINORITY OF CASES OF SIMPSON-GOLABI-BEHMEL-SYNDROME, Journal of Medical Genetics, 34(6), 1997, pp. 480-483
SITES INVERSUS, HEART-DEFECTS, AND OTHER MANIFESTATIONS OF X-LINKED HETEROTAXY CAUSED BY MUTATIONS IN THE ZINC-FINGER TRANSCRIPTION FACTOR ZIC3
Authors: CASEY B GEBBIA M FERRERO GB PILIA G YAMADA M AYLSWORTH AS PENMANSPLITT M BIRD LM BAMFORTH JS BURN J SCHLESSINGER D NELSON DL
Citation: B. Casey et al., SITES INVERSUS, HEART-DEFECTS, AND OTHER MANIFESTATIONS OF X-LINKED HETEROTAXY CAUSED BY MUTATIONS IN THE ZINC-FINGER TRANSCRIPTION FACTOR ZIC3, American journal of human genetics, 61(4), 1997, pp. 90-90
DNA METHYLATION IN TRANSCRIPTIONAL REPRESSION OF 2 DIFFERENTIALLY EXPRESSED X-LINKED GENES
Authors: HUBER R STRAZZULLO M PENGUE G URSO MD SCHLESSINGER D PILIA G DESPOSITO MD
Citation: R. Huber et al., DNA METHYLATION IN TRANSCRIPTIONAL REPRESSION OF 2 DIFFERENTIALLY EXPRESSED X-LINKED GENES, American journal of human genetics, 61(4), 1997, pp. 1004-1004
MULTIPLE SP1 SITES ARE REQUIRED FOR EFFICIENT TRANSCRIPTION OF THE TATA-LESS PROMOTER OF THE HUMAN GLYPICAN-3 (GPC3) GENE
Authors: HUBER R SCHLESSINGER D PILIA G
Citation: R. Huber et al., MULTIPLE SP1 SITES ARE REQUIRED FOR EFFICIENT TRANSCRIPTION OF THE TATA-LESS PROMOTER OF THE HUMAN GLYPICAN-3 (GPC3) GENE, American journal of human genetics, 61(4), 1997, pp. 1051-1051
A SUBMICROSCOPIC DELETION IN XQ26 ASSOCIATED WITH FAMILIAL SITUS AMBIGUUS
Authors: FERRERO GB GEBBIA M PILIA G WITTE D PEIER A HOPKIN RJ CRAIGEN WJ SHAFFER LG SCHLESSINGER D BALLABIO A CASEY B
Citation: Gb. Ferrero et al., A SUBMICROSCOPIC DELETION IN XQ26 ASSOCIATED WITH FAMILIAL SITUS AMBIGUUS, American journal of human genetics, 61(2), 1997, pp. 395-401
MUTATIONS IN GPC3, A GLYPICAN GENE, CAUSE THE SIMPSON-GOLABI-BEHMEL OVERGROWTH SYNDROME
Authors: PILIA G HUGHESBENZIE RM MACKENZIE A BAYBAYAN P CHEN EY HUBER R NERI G CAO A FORABOSCO A SCHLESSINGER D
Citation: G. Pilia et al., MUTATIONS IN GPC3, A GLYPICAN GENE, CAUSE THE SIMPSON-GOLABI-BEHMEL OVERGROWTH SYNDROME, Nature genetics, 12(3), 1996, pp. 241-247
YAC STS MAP ACROSS 12 MB OF XQ27 AT 25-KB RESOLUTION, MERGING XQ26-QTER/
Authors: ZUCCHI I MUMM S PILIA G MACMILLAN S REINBOLD R SUSANI L WEISSENBACH J SCHLESSINGER D
Citation: I. Zucchi et al., YAC STS MAP ACROSS 12 MB OF XQ27 AT 25-KB RESOLUTION, MERGING XQ26-QTER/, Genomics, 34(1), 1996, pp. 42-54
YAC STS MAP OF 9 MB OF XQ26 AT 100-KB RESOLUTION, LOCALIZING 6 ESTS, 6 GENES, AND 32 GENETIC-MARKERS/
Authors: PILIA G MACMILLAN S NAGARAJA R MUMM S WEISSENBACH J SCHLESSINGER D
Citation: G. Pilia et al., YAC STS MAP OF 9 MB OF XQ26 AT 100-KB RESOLUTION, LOCALIZING 6 ESTS, 6 GENES, AND 32 GENETIC-MARKERS/, Genomics, 34(1), 1996, pp. 55-62
CONSTRUCTION OF A YAC CONTIG AND AN STS MAP SPANNING 3.6 MEGABASE PAIRS IN XP22.1
Authors: TRUMP D PILIA G DIXON PH WOODING C THAKRAR R LEIGH SEA NAGARAJA R WHYTE MP SCHLESSINGER D THAKKER RV
Citation: D. Trump et al., CONSTRUCTION OF A YAC CONTIG AND AN STS MAP SPANNING 3.6 MEGABASE PAIRS IN XP22.1, Human genetics, 97(1), 1996, pp. 60-68
SIMPSON-GOLABI-BEHMEL SYNDROME - GENOTYPE PHENOTYPE ANALYSIS OF 18 AFFECTED MALES FROM 7 UNRELATED FAMILIES/
Authors: HUGHESBENZIE RM PILIA G XUAN JY HUNTER AGW CHEN E GOLABI M HURST JA KOBORI J MARYMEE K PAGON RA PUNNETT HH SCHELLEY S TOLMIE JL WOHLFERD MM GROSSMAN T SCHLESSINGER D MACKENZIE AE
Citation: Rm. Hughesbenzie et al., SIMPSON-GOLABI-BEHMEL SYNDROME - GENOTYPE PHENOTYPE ANALYSIS OF 18 AFFECTED MALES FROM 7 UNRELATED FAMILIES/, American journal of medical genetics, 66(2), 1996, pp. 227-234
REFINEMENT OF THE BACKGROUND GENETIC-MAP OF XQ26-Q27 AND GENE LOCALIZATION FOR BORJESON-FORSSMAN-LEHMANN SYNDROME
Authors: GEDEON AK KOZMAN HM ROBINSON H PILIA G SCHLESSINGER D TURNER G MULLEY JC
Citation: Ak. Gedeon et al., REFINEMENT OF THE BACKGROUND GENETIC-MAP OF XQ26-Q27 AND GENE LOCALIZATION FOR BORJESON-FORSSMAN-LEHMANN SYNDROME, American journal of medical genetics, 64(1), 1996, pp. 63-68
LOCALIZATION AND ISOLATION OF CANDIDATE CDNAS FOR THE GENE INVOLVED IN SIMPSON DYSMORPHIA SYNDROME (SDYS)
Authors: PILIA G FORABOSCO A BAYBAYAN P CHEN E SCHLESSINGER D
Citation: G. Pilia et al., LOCALIZATION AND ISOLATION OF CANDIDATE CDNAS FOR THE GENE INVOLVED IN SIMPSON DYSMORPHIA SYNDROME (SDYS), American journal of human genetics, 57(4), 1995, pp. 1296-1296
PRENATAL-DIAGNOSIS OF SIMPSON-GOLABI-BEHMEL SYNDROME - IDENTIFICATIONOF AN INFORMATIVE AT REPEAT SEQUENCE IN THE CRITICAL SGBS REGION
Authors: HUGHESBENZIE RM XUAN JY HURST JA PILIA G SCHLESSINGER D MACKENZIE AE
Citation: Rm. Hughesbenzie et al., PRENATAL-DIAGNOSIS OF SIMPSON-GOLABI-BEHMEL SYNDROME - IDENTIFICATIONOF AN INFORMATIVE AT REPEAT SEQUENCE IN THE CRITICAL SGBS REGION, American journal of human genetics, 57(4), 1995, pp. 1634-1634
BLOCK-BASED PCR MARKERS TO FIND GENE FAMILY MEMBERS IN HUMAN AND COMPARATIVE GENOME ANALYSIS
Authors: DESPOSITO M PILIA G SCHLESSINGER D
Citation: M. Desposito et al., BLOCK-BASED PCR MARKERS TO FIND GENE FAMILY MEMBERS IN HUMAN AND COMPARATIVE GENOME ANALYSIS, Human molecular genetics, 3(5), 1994, pp. 735-740
HUMAN CD40L GENE MAPS BETWEEN DXS144E AND DXS300 IN XQ26
Authors: PILIA G PORTA G PADAYACHEE M MALCOLM S ZUCCHI I VILLA A MACCHI P VEZZONI P SCHLESSINGER D
Citation: G. Pilia et al., HUMAN CD40L GENE MAPS BETWEEN DXS144E AND DXS300 IN XQ26, Genomics, 22(1), 1994, pp. 249-251
DETECTION OF DELETION MUTATIONS EXTENDING BEYOND THE HPRT GENE BY MULTIPLEX PCR ANALYSIS
Authors: FUSCOE JC NELSEN AJ PILIA G
Citation: Jc. Fuscoe et al., DETECTION OF DELETION MUTATIONS EXTENDING BEYOND THE HPRT GENE BY MULTIPLEX PCR ANALYSIS, Somatic cell and molecular genetics, 20(1), 1994, pp. 39-46
Risultati: 1-25 | 26-35