AAAAAA

   
Results: 1-25 | 26-49
Results: 1-25/49
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
FIRST-STAGE AUTOSOMAL GENOME SCREEN IN EXTENDED PEDIGREES SUGGESTS GENES PREDISPOSING TO LOW BONE-MINERAL DENSITY ON CHROMOSOMES 1P, 2P AND4Q
Authors: DEVOTO M SHIMOYA K CAMINIS J OTT J TENENHOUSE A WHYTE MP SEREDA L HALL S CONSIDINE E WILLIAMS CJ TROMP G KUIVANIEMI H ALAKOKKO L PROCKOP DJ SPOTILA LD
Citation: M. Devoto et al., FIRST-STAGE AUTOSOMAL GENOME SCREEN IN EXTENDED PEDIGREES SUGGESTS GENES PREDISPOSING TO LOW BONE-MINERAL DENSITY ON CHROMOSOMES 1P, 2P AND4Q, European journal of human genetics, 6(2), 1998, pp. 151-157
A GENOME-WIDE SEARCH FOR QUANTITATIVE TRAIT LOCI PREDISPOSING TO LOW BONE-MINERAL DENSITY IN 7 FAMILIES AND ADDITIONAL SIB PAIRS
Authors: SPOTILA L DEVOTO M CAMINIS J OTT J WHYTE M SHIMOYA K KOSICH R KORKKO J TENENHOUSE A PROCKOP D
Citation: L. Spotila et al., A GENOME-WIDE SEARCH FOR QUANTITATIVE TRAIT LOCI PREDISPOSING TO LOW BONE-MINERAL DENSITY IN 7 FAMILIES AND ADDITIONAL SIB PAIRS, European journal of human genetics, 6, 1998, pp. 45-45
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
GENETIC-MAPPING OF A GENE RESPONSIBLE FOR A NEW RARE AUTOSOMAL-DOMINANT NEURONOPATHY
Authors: SERI M CUSANO R FORABOSCO P CAROLI F PICCO P BINI R MORRA VB LERONE M SILENGO M PELA I BORRONE C ROMEO G DEVOTO M
Citation: M. Seri et al., GENETIC-MAPPING OF A GENE RESPONSIBLE FOR A NEW RARE AUTOSOMAL-DOMINANT NEURONOPATHY, European journal of human genetics, 6, 1998, pp. 4138-4138
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
GENOME-WIDE SEARCH FOR LINKAGE MAPPING OF SUSCEPTIBILITY GENES FOR FAMILIAL COMBINED HYPERLIPIDEMIA (FCHL)
Authors: ARCA M CAMPAGNA F MONTALI A FLORA L GADDI A GALLETTI P CASARI G DEVOTO M DAMBROSIO E VERNA R
Citation: M. Arca et al., GENOME-WIDE SEARCH FOR LINKAGE MAPPING OF SUSCEPTIBILITY GENES FOR FAMILIAL COMBINED HYPERLIPIDEMIA (FCHL), Atherosclerosis (Amsterdam), 138, 1998, pp. 25-25
LINKAGE STUDY OF SCHIZOPHRENIA TO MARKERS WITHIN XP11 NEAR THE MAOB GENE
Authors: DANN J DELISI LE DEVOTO M LAVAL S NANCARROW DJ SHIELDS G SMITH A LOFTUS J PETERSON P VITA A COMAZZI M INVERNIZZI G LEVINSON DF WILDENAUER D MOWRY BJ COLLIER D POWELL J CROWE RR ANDREASEN NC SILVERMAN JM MOHS RC MURRAY RM WALTERS MK LENNON DP HAYWARD NK ALBUS M LERER B MAIER W CROW TJ
Citation: J. Dann et al., LINKAGE STUDY OF SCHIZOPHRENIA TO MARKERS WITHIN XP11 NEAR THE MAOB GENE, Psychiatry research, 70(3), 1997, pp. 131-143
DOMINANT RETINITIS-PIGMENTOSA WITH REDUCED PENETRANCE - REFINEMENT OFTHE RP11 LOCUS TO A 4.9-CM INTERVAL ON CHROMOSOME 19Q
Authors: MCGEE TL DEVOTO M OTT J BERSON EL DRYJA TP
Citation: Tl. Mcgee et al., DOMINANT RETINITIS-PIGMENTOSA WITH REDUCED PENETRANCE - REFINEMENT OFTHE RP11 LOCUS TO A 4.9-CM INTERVAL ON CHROMOSOME 19Q, Investigative ophthalmology & visual science, 38(4), 1997, pp. 5340-5340
POLYMORPHISMS OF ALPHA-ADDUCIN AND SALT SENSITIVITY IN PATIENTS WITH ESSENTIAL-HYPERTENSION
Authors: CUSI D BARLASSINA C AZZANI T CASARI G CITTERIO L DEVOTO M GLORIOSO N LANZANI C MANUNTA P RIGHETTI M RIVERA R STELLA P TROFFA C ZAGATO L BIANCHI G
Citation: D. Cusi et al., POLYMORPHISMS OF ALPHA-ADDUCIN AND SALT SENSITIVITY IN PATIENTS WITH ESSENTIAL-HYPERTENSION, Lancet, 349(9062), 1997, pp. 1353-1357
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
EVIDENCE THAT THE PENETRANCE OF MUTATIONS AT THE RP11 LOCUS CAUSING DOMINANT RETINITIS-PIGMENTOSA IS INFLUENCED BY A GENE LINKED TO THE HOMOLOGOUS RP11 ALLELE
Authors: MCGEE TL DEVOTO M OTT J BERSON EL DRYJA TP
Citation: Tl. Mcgee et al., EVIDENCE THAT THE PENETRANCE OF MUTATIONS AT THE RP11 LOCUS CAUSING DOMINANT RETINITIS-PIGMENTOSA IS INFLUENCED BY A GENE LINKED TO THE HOMOLOGOUS RP11 ALLELE, American journal of human genetics, 61(5), 1997, pp. 1059-1066
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
SEARCH FOR LINKAGE TO X-CHROMOSOMES AND Y-CHROMOSOMES IN FAMILIES WITH SCHIZOPHRENIA AND SCHIZOAFFECTIVE DISORDER
Authors: DANN JC DELISI LE DEVOTO M LOFTUS J PROSHO L SMITH A SHIELDS G LAVAL S RUE J VITA A MORGANTI C OTT J CROW TJ
Citation: Jc. Dann et al., SEARCH FOR LINKAGE TO X-CHROMOSOMES AND Y-CHROMOSOMES IN FAMILIES WITH SCHIZOPHRENIA AND SCHIZOAFFECTIVE DISORDER, Schizophrenia research, 18(2-3), 1996, pp. 1-1
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
A COMMON MOLECULAR-BASIS FOR 3 INHERITED KIDNEY-STONE DISEASES
Authors: LLOYD SE PEARCE SHS FISHER SE STEINMEYER K SCHWAPPACH B SCHEINMAN SJ HARDING B BOLINO A DEVOTO M GOODYER P RIGDEN SPA WRONG O JENTSCH TJ CRAIG IW THAKKER RV
Citation: Se. Lloyd et al., A COMMON MOLECULAR-BASIS FOR 3 INHERITED KIDNEY-STONE DISEASES, Nature, 379(6564), 1996, pp. 445-449
A RECOMBINATION OUTSIDE THE BB DELETION REFINES THE LOCATION OF THE X-LINKED RETINITIS-PIGMENTOSA LOCUS RP3
Authors: FUJITA R BINGHAM E FORSYTHE P MCHENRY C AITA V NAVIA BA DRY K SEGAL M DEVOTO M BRUNS G WRIGHT AF OTT J SIEVING PA SWAROOP A
Citation: R. Fujita et al., A RECOMBINATION OUTSIDE THE BB DELETION REFINES THE LOCATION OF THE X-LINKED RETINITIS-PIGMENTOSA LOCUS RP3, American journal of human genetics, 59(1), 1996, pp. 152-158
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
ANALYSIS OF LINKAGE DISEQUILIBRIUM BETWEEN DIFFERENT CYSTIC-FIBROSIS MUTATIONS AND 3 INTRAGENIC MICROSATELLITES IN THE ITALIAN POPULATION
Authors: RUSSO MP ROMEO G DEVOTO M BARBUJANI G CABRINI G GIUNTA A DALCAMO E LEONI G SANGIUOLO F MAGNANI C CREMONESI L FERRARI M
Citation: Mp. Russo et al., ANALYSIS OF LINKAGE DISEQUILIBRIUM BETWEEN DIFFERENT CYSTIC-FIBROSIS MUTATIONS AND 3 INTRAGENIC MICROSATELLITES IN THE ITALIAN POPULATION, Human mutation, 5(1), 1995, pp. 23-27
NO EVIDENCE FOR SEGREGATION DISTORTION OF CYSTIC-FIBROSIS ALLELES AMONG SIBS OF CYSTIC-FIBROSIS PATIENTS
Authors: DEVOTO M ROMEO G TENKATE LP CHEVALIER F BOZON D ESTIVILL X CASALS T ABELIOVICH D LERER I PADOAN R SEIA M HILL A LIECHTIGALLATI S KRAMER R BEARDS F DEAR S DALLAPICCOLA B SANGIUOLO F MACEK M MACEK M MCMAHON R CONNARTY M HARVEY JF CLAUSTRES M DESGEORGES M DEVRIES R SCHEFFER H CANKIKLAIN N AUDREZET MP BIENVENU T CHOMEL JC DZIADEK V TUMMLER B SCHWARZ M HAWORTH A BENITEZ J FERNANDEZ E MAZURCZAK T BAL J CREMONESI L RONCHETTO P CASHMAN SM FEREC C CUPPENS H BAUER I ANGELICHEVA D WAGNER K PACHECO P BONIZZATO A WITT M MCMAHON CJ RAVNIKGLAVAC M REIS A STUHRMANN M GARNERONE S CURTIS A GRUNING G KANAVAKIS E KLAASSEN T GRADE T
Citation: M. Devoto et al., NO EVIDENCE FOR SEGREGATION DISTORTION OF CYSTIC-FIBROSIS ALLELES AMONG SIBS OF CYSTIC-FIBROSIS PATIENTS, European journal of human genetics, 3(5), 1995, pp. 324-325
INTERSTITIAL DELETION OF THE ENDOTHELIN-B RECEPTOR GENE IN THE SPOTTING LETHAL (SL) RAT
Authors: CECCHERINI I ZHANG AL MATERA I YANG GC DEVOTO M ROMEO G CASS DT
Citation: I. Ceccherini et al., INTERSTITIAL DELETION OF THE ENDOTHELIN-B RECEPTOR GENE IN THE SPOTTING LETHAL (SL) RAT, Human molecular genetics, 4(11), 1995, pp. 2089-2096
LINKAGE ANALYSIS IN 7 FAMILIES WITH LOW BONE-MINERAL DENSITY
Authors: SPOTILA LD DEVOTO M SHIMOVA K KUIVANIEMI H TROMP G WILLIAMS C ALAKOKKO L SEREDA L HALL S JOKINEN A DHULIPALA R CONSIDINE E MCCARRON S OTT J WHYTE M CAMINIS J TENENHOUSE A PROCKOP DJ
Citation: Ld. Spotila et al., LINKAGE ANALYSIS IN 7 FAMILIES WITH LOW BONE-MINERAL DENSITY, Journal of bone and mineral research, 10, 1995, pp. 184-184
GENDER-DEPENDENT DISEASE SEVERITY IN AUTOSOMAL POLYCYSTIC KIDNEY-DISEASE OF RATS
Authors: GRETZ N CECCHERINI I KRANZLIN B KLOTING I DEVOTO M ROHMEISS P HOCHER B WALDHERR R ROMEO G
Citation: N. Gretz et al., GENDER-DEPENDENT DISEASE SEVERITY IN AUTOSOMAL POLYCYSTIC KIDNEY-DISEASE OF RATS, Kidney international, 48(2), 1995, pp. 496-500
HARVARD COMPOSERS - PISTON,WALTER AND HIS STUDENTS, FROM CARTER,ELLIOTT, TO RZEWSKI,FREDERIC - POLLACK,H
Authors: DEVOTO M
Citation: M. Devoto, HARVARD COMPOSERS - PISTON,WALTER AND HIS STUDENTS, FROM CARTER,ELLIOTT, TO RZEWSKI,FREDERIC - POLLACK,H, FON ART MUS, 42(1), 1995, pp. 99-102
MOLECULAR PATHOLOGY AND HAPLOTYPE ANALYSIS OF WILSON DISEASE IN MEDITERRANEAN POPULATIONS
Authors: FIGUS A ANGIUS A LOUDIANOS G BERTINI C DESSI V LOI A DEIANA M LOVICU M OLLA N SOLE G DEVIRGILIIS S LILLIU F FARCI AMG NURCHI A GIACCHINO R BARABINO A MARAZZI M ZANCAN L GREGGIO NA MARCELLINI M SOLINAS A DEPLANO A BARBERA C DEVOTO M OZSOYLU S KOCAK N AKAR N KARAYALCIN S MOKINI V CULLUFI P BALESTRIERI A CAO A PIRASTU M
Citation: A. Figus et al., MOLECULAR PATHOLOGY AND HAPLOTYPE ANALYSIS OF WILSON DISEASE IN MEDITERRANEAN POPULATIONS, American journal of human genetics, 57(6), 1995, pp. 1318-1324
Risultati: 1-25 | 26-49