AAAAAA

   
Results: 1-25 | 26-50 | 51-75 | 76-100 | >>
Results: 1-25/107
SEVERE LIMB-GIRDLE MUSCULAR-DYSTROPHY IN SPANISH GYPSIES - FURTHER EVIDENCE FOR A FOUNDER MUTATION IN THE GAMMA-SARCOGLYCAN GENE
Authors: LASA A PICCOLO F DEDIEGO C JEANPIERRE M COLOMER J RODRIGUEZ MJ URTIZBEREA JA BAIGET M KAPLAN JC GALLANO P
Citation: A. Lasa et al., SEVERE LIMB-GIRDLE MUSCULAR-DYSTROPHY IN SPANISH GYPSIES - FURTHER EVIDENCE FOR A FOUNDER MUTATION IN THE GAMMA-SARCOGLYCAN GENE, European journal of human genetics, 6(4), 1998, pp. 396-399
DIRECT MOLECULAR-GENETIC DIAGNOSIS AND CARRIER IDENTIFICATION IN ONE EMERY-DREIFUSS MUSCULAR-DYSTROPHY FAMILY
Authors: CANKIKLAIN N RECAN D LLENSE S BARBOT JC LETURCQ F DEBURGRAVE N KAPLAN JC DEBEVEC M ZURAK N
Citation: N. Cankiklain et al., DIRECT MOLECULAR-GENETIC DIAGNOSIS AND CARRIER IDENTIFICATION IN ONE EMERY-DREIFUSS MUSCULAR-DYSTROPHY FAMILY, European journal of human genetics, 6, 1998, pp. 1033-1033
AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHIES IN PATIENTS FROM MADEIRA ISLAND - A CLINICAL AND GENETIC APPROACH
Authors: SANTOS HG SANTOS R VASCONCELOS R FERNANDES HC FREITAS C LETURCQ F KAPLAN JC URTIZBEREA JA
Citation: Hg. Santos et al., AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHIES IN PATIENTS FROM MADEIRA ISLAND - A CLINICAL AND GENETIC APPROACH, European journal of human genetics, 6, 1998, pp. 1114-1114
MUTATIONS IN EMERY-DREIFUSS MUSCULAR-DYSTROPHY AND THEIR EFFECTS ON EMERIN PROTEIN EXPRESSION
Authors: MANILAL S RECAN D SEWRY CA HOELTZENBEIN M LLENSE S LETURCQ F DEBURGRAVE N BARBOT JC MAN NT MUNTONI F WEHNERT M KAPLAN JC MORRIS GE
Citation: S. Manilal et al., MUTATIONS IN EMERY-DREIFUSS MUSCULAR-DYSTROPHY AND THEIR EFFECTS ON EMERIN PROTEIN EXPRESSION, Human molecular genetics, 7(5), 1998, pp. 855-864
NEUROMUSCULAR DISORDERS - GENE LOCATION
Authors: KAPLAN JC FONTAINE B
Citation: Jc. Kaplan et B. Fontaine, NEUROMUSCULAR DISORDERS - GENE LOCATION, Neuromuscular disorders, 8(2), 1998, pp. 1-7
NEUROMUSCULAR DISORDERS - GENE LOCATION
Authors: KAPLAN JC FONTAINE B
Citation: Jc. Kaplan et B. Fontaine, NEUROMUSCULAR DISORDERS - GENE LOCATION, Neuromuscular disorders, 8(1), 1998, pp. 1-12
BETA-SARCOGLYCAN - GENOMIC ANALYSIS AND IDENTIFICATION OF A NOVEL MISSENSE MUTATION IN THE LGMD2E AMISH ISOLATE
Authors: DUCLOS F BROUX O BOURG N STRAUB V FELDMAN GL SUNADA Y LIM LE PICCOLO F CUTSHALL S GARY F QUETIER F KAPLAN JC JACKSON CE BECKMANN JS CAMPBELL KP
Citation: F. Duclos et al., BETA-SARCOGLYCAN - GENOMIC ANALYSIS AND IDENTIFICATION OF A NOVEL MISSENSE MUTATION IN THE LGMD2E AMISH ISOLATE, Neuromuscular disorders, 8(1), 1998, pp. 30-38
MOLECULAR-BASIS OF PROCRASTINATION - CLON ING OF A GENE FOR HELP IN DECISION-MAKING
Authors: KAPLAN JC
Citation: Jc. Kaplan, MOLECULAR-BASIS OF PROCRASTINATION - CLON ING OF A GENE FOR HELP IN DECISION-MAKING, MS. Medecine sciences, 14(4), 1998, pp. 525-528
LIMB-GIRDLE MUSCULAR-DYSTROPHY 2C WITH C283Y MUTATION IN GYPSIES - CHARACTERIZATION OF THE CLINICAL PHENOTYPE
Authors: MERLINI L BAROIS A DEMONTE A ECHENNE B GALLANO P JARRE L KALAYDJIEVA L LEVYGOMES A NAVARRO C TOUTAIN A TURNEV I URTIZBEREA A VALLAT JM VOIT T WARTER JM KAPLAN JC
Citation: L. Merlini et al., LIMB-GIRDLE MUSCULAR-DYSTROPHY 2C WITH C283Y MUTATION IN GYPSIES - CHARACTERIZATION OF THE CLINICAL PHENOTYPE, Neurology, 50(4), 1998, pp. 3020-3020
LIMB-GIRDLE MUSCULAR-DYSTROPHY IN GUIPUZCOA (BASQUE COUNTRY, SPAIN)
Authors: URTASUN M SAENZ A ROUDAUT C POZA JJ URTIZBEREA JA COBO AM RICHARD I BRAGADO FG LETURCQ F KAPLAN JC MASSO JFM BECKMANN JS DEMUNAIN AL
Citation: M. Urtasun et al., LIMB-GIRDLE MUSCULAR-DYSTROPHY IN GUIPUZCOA (BASQUE COUNTRY, SPAIN), Brain (Print), 121, 1998, pp. 1735-1747
COMPOUND HETEROZYGOTES FOR A CF MUTATION AND THE 5T SPLICE VARIANT ASSOCIATED WITH VARIABLE PRESENTATIONS IN A FRENCH FAMILY
Authors: BIENVENU T LEPERCQ J ALLARD JP HUBERT D FRANCOUAL F BELDJORD C KAPLAN JC
Citation: T. Bienvenu et al., COMPOUND HETEROZYGOTES FOR A CF MUTATION AND THE 5T SPLICE VARIANT ASSOCIATED WITH VARIABLE PRESENTATIONS IN A FRENCH FAMILY, Annales de genetique, 41(1), 1998, pp. 63-64
GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS
Authors: ESTIVILL X BANCELLS C RAMOS C PIAZZA A CARBONARA A MASTELLA G BONIZZATO A CASTALDI G DALCAMO E FERRARI M GASPARINI P GUANTI G LEONI GB PIGNATTI PF RONCHETTO P SEIA M TORRICELLI F GOOSSENS M CHEVALIERPORST F BOZON D SIMONBOUY B FELDMANN D ELION J KAPLAN JC FEREC C CLAUSTRES M CLAVEL C PUCHELLE E LUNARDI J MATHIEU M SCHEFFER H HALLEY DJJ VANDENOUWELAND AMW TIJMENSEN ASLN CASALS T GIMENEZ FJ RAMOS L BENEYTO M BENITEZ J PALACIO A TUMMLER B BAUER I MEITINGER T CLAASS A LINDNER M SCHRODER E STUHRMANN M CASSIMAN J CUPPENS H COCHAUX P PONCIN J MESSIAN L BARANOV VS IVASCHENKO TE BAKAY M BAL J WITT M KANAVAKIS M TZETIS M ANTONIADI T LAVINHA J PACHECO P DUARTE A LOUREIRO P KALAYDJIEVA L ANGELICHEVA D JORDANOVA A SAVOV A EIKLID K HOLMBERG L SCHAEDEL C OZGUC M GOCMEN A ERDERN H LIECHTIGALLATI S NEMETI M FEKETE G KLAASSEN T SCHWARZ M SCHWARTZ M MACEK M MACEK M KREBSOVA A VAVROVA V KEREM B AVELIOVICH D FERAK V KADASI L KAYSEROVA H GLAVAC D RAVNIKGLAVAC M EFREMOV GD CANKIKLEIN N KERE J
Citation: X. Estivill et al., GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS, Human mutation, 10(2), 1997, pp. 135-154
NEUROMUSCULAR DISORDERS - GENE LOCATION
Authors: KAPLAN JC FONTAINE B
Citation: Jc. Kaplan et B. Fontaine, NEUROMUSCULAR DISORDERS - GENE LOCATION, Neuromuscular disorders, 7(8), 1997, pp. 1-12
A POINT MUTATION IN THE GLYCEROL KINASE GENE ASSOCIATED WITH A DELETION IN THE DYSTROPHIN GENE IN A FAMILIAL X-LINKED MUSCULAR-DYSTROPHY - NONCONTIGUOUS GENE SYNDROME INVOLVING BECKER MUSCULAR-DYSTROPHY AND GLYCEROL KINASE LOCI
Authors: ROMERO NB RECAN D RIGAL O LETURCQ F LLENSE S BARBOT JC DEBURGRAVE N CHEVAL MA DENIAU F KAPLAN JC
Citation: Nb. Romero et al., A POINT MUTATION IN THE GLYCEROL KINASE GENE ASSOCIATED WITH A DELETION IN THE DYSTROPHIN GENE IN A FAMILIAL X-LINKED MUSCULAR-DYSTROPHY - NONCONTIGUOUS GENE SYNDROME INVOLVING BECKER MUSCULAR-DYSTROPHY AND GLYCEROL KINASE LOCI, Neuromuscular disorders, 7(8), 1997, pp. 499-504
NEUROMUSCULAR DISORDERS - GENE LOCATION
Authors: KAPLAN JC FONTAINE B
Citation: Jc. Kaplan et B. Fontaine, NEUROMUSCULAR DISORDERS - GENE LOCATION, Neuromuscular disorders, 7(6-7), 1997, pp. 1-12
NEUROMUSCULAR DISORDERS - GENE LOCATION
Authors: KAPLAN JC FONTAINE B
Citation: Jc. Kaplan et B. Fontaine, NEUROMUSCULAR DISORDERS - GENE LOCATION, Neuromuscular disorders, 7(2), 1997, pp. 1-11
POCKET ENCYCLOPEDIA OF BIOLOGICALLY CORRE CT REPRODUCTION
Authors: KAPLAN JC
Citation: Jc. Kaplan, POCKET ENCYCLOPEDIA OF BIOLOGICALLY CORRE CT REPRODUCTION, MS. Medecine sciences, 13(5), 1997, pp. 670-672
A BIOCHEMICAL, GENETIC, AND CLINICAL SURVEY OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHIES IN TURKEY
Authors: DINCER P LETURCQ F RICHARD I PICCOLO F YALNIZOGLU D DETOMA C AKCOREN Z BROUX O DEBURGRAVE N BRENGUIER L ROUDAUT C URTIZBEREA JA JUNG D TAN E JEANPIERRE M CAMPBELL KP KAPLAN JC BECKMANN JS TOPALOGLU H
Citation: P. Dincer et al., A BIOCHEMICAL, GENETIC, AND CLINICAL SURVEY OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHIES IN TURKEY, Annals of neurology, 42(2), 1997, pp. 222-229
PRIMARY ADHALINOPATHY (ALPHA-SARCOGLYCANOPATHY) - CLINICAL, PATHOLOGICAL, AND GENETIC CORRELATION IN 20 PATIENTS WITH AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY
Authors: EYMARD B ROMERO NB LETURCQ F PICCOLO F CARRIE A JEANPIERRE M COLLIN H DEBURGRAVE N AZIBI K CHAOUCH M MERLINI L THEMARNOEL C PENISSON I MAYER M TANGUY O CAMPBELL KP KAPLAN JC TOME FMS FARDEAU M
Citation: B. Eymard et al., PRIMARY ADHALINOPATHY (ALPHA-SARCOGLYCANOPATHY) - CLINICAL, PATHOLOGICAL, AND GENETIC CORRELATION IN 20 PATIENTS WITH AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY, Neurology, 48(5), 1997, pp. 1227-1234
MUTATIONAL DIVERSITY AND HOT-SPOTS IN THE ALPHA-SARCOGLYCAN GENE IN AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY (LGMD2D)
Authors: CARRIE A PICCOLO F LETURCQ F DETOMA C AZIBI K BELDJORD C VALLAT JM MERLINI L VOIT T SEWRY C URTIZBEREA JA ROMERO N TOME FMS FARDEAU M SUNADA Y CAMPBELL KP KAPLAN JC JEANPIERRE M
Citation: A. Carrie et al., MUTATIONAL DIVERSITY AND HOT-SPOTS IN THE ALPHA-SARCOGLYCAN GENE IN AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY (LGMD2D), Journal of Medical Genetics, 34(6), 1997, pp. 470-475
ABSENCE OF ALPHA-SARCOGLYCAN AND NOVEL MISSENSE MUTATIONS IN THE ALPHA-SARCOGLYCAN GENE IN A YOUNG BRITISH GIRL WITH MUSCULAR-DYSTROPHY
Authors: QUINLIVAN RM ROBB SA SEWRY C DUBOWITZ V PICCOLO F KAPLAN JC
Citation: Rm. Quinlivan et al., ABSENCE OF ALPHA-SARCOGLYCAN AND NOVEL MISSENSE MUTATIONS IN THE ALPHA-SARCOGLYCAN GENE IN A YOUNG BRITISH GIRL WITH MUSCULAR-DYSTROPHY, Developmental Medicine and Child Neurology, 39(11), 1997, pp. 770-774
SPECTRUM OF CFTR MUTATIONS IN ARGENTINE CYSTIC-FIBROSIS PATIENTS
Authors: CHERTKOFF L VISICH A BIENVENU T GRENOVILLE M SEGAL E CARNIGLIA L KAPLAN JC BARREIRO C
Citation: L. Chertkoff et al., SPECTRUM OF CFTR MUTATIONS IN ARGENTINE CYSTIC-FIBROSIS PATIENTS, Clinical genetics, 51(1), 1997, pp. 43-47
MOLECULAR DIAGNOSIS OF CONGENITAL BILATERAL ABSENCE OF THE VAS-DEFERENS - ANALYSES OF THE CFTR GENE IN 64 FRENCH PATIENTS
Authors: BIENVENU T ADJIMAN M THIOUNN N JEANPIERRE M HUBERT D LEPERCQ J FRANCOUAL C WOLF JP IZARD V JOUANNET P KAPLAN JC BELDJORD C
Citation: T. Bienvenu et al., MOLECULAR DIAGNOSIS OF CONGENITAL BILATERAL ABSENCE OF THE VAS-DEFERENS - ANALYSES OF THE CFTR GENE IN 64 FRENCH PATIENTS, Annales de genetique, 40(1), 1997, pp. 5-9
PREVALENCE, MALE GERM-LINE ORIGIN AND NEW PATTERNS OF INVERSIONS IN HEMOPHILIA-A
Authors: VALLEIX S NAFA K STIELTJES N VIEMONT M SULTAN Y KAPLAN JC DELPECH M
Citation: S. Valleix et al., PREVALENCE, MALE GERM-LINE ORIGIN AND NEW PATTERNS OF INVERSIONS IN HEMOPHILIA-A, Annales de genetique, 40(1), 1997, pp. 35-40
ANCESTRAL HAPLOTYPES AS GENETIC CLOCKS
Authors: JEANPIERRE M PICCOLO F MARIN V LETURCQ F URTIZBEREA JA KAPLAN JC
Citation: M. Jeanpierre et al., ANCESTRAL HAPLOTYPES AS GENETIC CLOCKS, American journal of human genetics, 61(4), 1997, pp. 1163-1163
Risultati: 1-25 | 26-50 | 51-75 | 76-100 | >>