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Results: 1-18 |
Results: 18
PHENOTYPE-GENOTYPE CORRELATION IN 27 DELETION AND 27 NON DELETION ANGELMAN-SYNDROME PATIENTS - EVIDENCE OF A MILDER PHENOTYPE ASSOCIATED WITH NONDELETION AS PATIENTS
Authors: MONCLA A MALZAC P VOELCKEL MA GIRARDOT L MATTEI MG PHILIP N MATTEI JF LIVET MO
Citation: A. Moncla et al., PHENOTYPE-GENOTYPE CORRELATION IN 27 DELETION AND 27 NON DELETION ANGELMAN-SYNDROME PATIENTS - EVIDENCE OF A MILDER PHENOTYPE ASSOCIATED WITH NONDELETION AS PATIENTS, European journal of human genetics, 6, 1998, pp. 1065-1065
MOSAICISM FOR DEL(15)(Q11-Q12) UNDERLYING THE PRADER-WILLI-SYNDROME
Authors: MISSIRIAN C MALZAC P MATTEI MG VOELCKEL MA MATTEI JF MONCLA A
Citation: C. Missirian et al., MOSAICISM FOR DEL(15)(Q11-Q12) UNDERLYING THE PRADER-WILLI-SYNDROME, European journal of human genetics, 6, 1998, pp. 2105-2105
MUTATION ANALYSIS OF UBE3A IN ANGELMAN-SYNDROME PATIENTS - A DESCRIPTION OF 8 DIFFERENT MUTATIONS
Authors: MALZAC P VOELCKEL MA WAGSTAFF J LIVET MO VOVAN C PEDEILLIER K MONCLA A
Citation: P. Malzac et al., MUTATION ANALYSIS OF UBE3A IN ANGELMAN-SYNDROME PATIENTS - A DESCRIPTION OF 8 DIFFERENT MUTATIONS, European journal of human genetics, 6, 1998, pp. 4163-4163
ATYPICAL MOLECULAR FINDINGS IDENTIFY LIMITS OF TECHNICAL SCREENING-TESTS FOR PRADER-WILLI AND ANGELMAN SYNDROME DIAGNOSES
Authors: MALZAC P MONCLA A PEDEILLIER K VAN CV GIRARDOT L VOELCKEL MA
Citation: P. Malzac et al., ATYPICAL MOLECULAR FINDINGS IDENTIFY LIMITS OF TECHNICAL SCREENING-TESTS FOR PRADER-WILLI AND ANGELMAN SYNDROME DIAGNOSES, American journal of medical genetics, 78(3), 1998, pp. 242-244
PHENOTYPE-GENOTYPE CORRELATIONS STUDIES IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY
Authors: ATTARIAN S MALZAC P AZULAY JP PELLISSIER JF PHILIP N POUGET J
Citation: S. Attarian et al., PHENOTYPE-GENOTYPE CORRELATIONS STUDIES IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY, Neurology, 50(4), 1998, pp. 15006-15006
MUTATION ANALYSIS OF UBE3A IN ANGELMAN-SYNDROME PATIENTS
Authors: MALZAC P WEBBER H MONCLA A GRAHAM JM KUKOLICH M WILLIAMS C PAGON RA RAMSDELL LA KISHINO T WAGSTAFF J
Citation: P. Malzac et al., MUTATION ANALYSIS OF UBE3A IN ANGELMAN-SYNDROME PATIENTS, American journal of human genetics, 62(6), 1998, pp. 1353-1360
THE HUMAN NECDIN GENE, NDN, IS MATERNALLY IMPRINTED AND LOCATED IN THE PRADER-WILLI-SYNDROME CHROMOSOMAL REGION
Authors: JAY P ROUGEULLE C MASSACRIER A MONCLA A MATTEI MG MALZAC P ROECKEL N TAVIAUX S LEFRANC JLB CAU P BERTA P LALANDE M MUSCATELLI F
Citation: P. Jay et al., THE HUMAN NECDIN GENE, NDN, IS MATERNALLY IMPRINTED AND LOCATED IN THE PRADER-WILLI-SYNDROME CHROMOSOMAL REGION, Nature genetics, 17(3), 1997, pp. 357-361
SMITH-MAGENIS-SYNDROME
Authors: LACOMBE D MONCLA A MALZAC P MATTEI MG BATTIN J
Citation: D. Lacombe et al., SMITH-MAGENIS-SYNDROME, Archives de pediatrie, 4(5), 1997, pp. 438-442
EXERTIONAL RHABDOMYOLYSIS AND EXERCISE INTOLERANCE REVEALING DYSTROPHINOPATHIES
Authors: FIGARELLABRANGER D MACHADO AMB PUTZU GA MALZAC P VOELCKEL MA PELLISSIER JF
Citation: D. Figarellabranger et al., EXERTIONAL RHABDOMYOLYSIS AND EXERCISE INTOLERANCE REVEALING DYSTROPHINOPATHIES, Acta Neuropathologica, 94(1), 1997, pp. 48-53
CLINICAL HETEROGENEITY IN 16 PATIENTS WITH INV-DUP-15 CHROMOSOME - CYTOGENETIC AND MOLECULAR STUDIES, SEARCH FOR AN IMPRINTING EFFECT
Authors: MIGNON C MALZAC P MONCLA A DEPETRIS D ROECKEL N CROQUETTE MF MATTEI MG
Citation: C. Mignon et al., CLINICAL HETEROGENEITY IN 16 PATIENTS WITH INV-DUP-15 CHROMOSOME - CYTOGENETIC AND MOLECULAR STUDIES, SEARCH FOR AN IMPRINTING EFFECT, European journal of human genetics, 4(2), 1996, pp. 88-100
UNEXPECTED INHERITANCE OF THE (CGG)(N) TRINUCLEOTIDE EXPANSION IN A FRAGILE-X SYNDROME FAMILY
Authors: MALZAC P BIANCALANA V VOELCKEL MA MONCLA A PELLISSIER MC BOCCACCIO I MATTEI JF
Citation: P. Malzac et al., UNEXPECTED INHERITANCE OF THE (CGG)(N) TRINUCLEOTIDE EXPANSION IN A FRAGILE-X SYNDROME FAMILY, European journal of human genetics, 4(1), 1996, pp. 8-12
CORTICAL MYOCLONUS IN ANGELMAN SYNDROME
Authors: GUERRINI R DELOREY TM BONANNI P MONCLA A DRAVET C SUISSE G LIVET MO BUREAU M MALZAC P GENTON P THOMAS P SARTUCCI F SIMI P SERRATOSA JM
Citation: R. Guerrini et al., CORTICAL MYOCLONUS IN ANGELMAN SYNDROME, Annals of neurology, 40(1), 1996, pp. 39-48
CHROMOSOMAL LOCALIZATION OF THE HUMAN AND MOUSE HISTIDINE-DECARBOXYLASE GENES BY IN-SITU HYBRIDIZATION - EXCLUSION OF THE HDC GENE FROM THEPRADER-WILLI-SYNDROME REGION
Authors: MALZAC P MATTEI MG THIBAULT J BRUNEAU G
Citation: P. Malzac et al., CHROMOSOMAL LOCALIZATION OF THE HUMAN AND MOUSE HISTIDINE-DECARBOXYLASE GENES BY IN-SITU HYBRIDIZATION - EXCLUSION OF THE HDC GENE FROM THEPRADER-WILLI-SYNDROME REGION, Human genetics, 97(3), 1996, pp. 359-361
A RARE EXAMPLE OF A REVERSE MUTATION IN A FRAGILE-X SYNDROME FAMILY
Authors: MALZAC P BIANCALANA V VOELCKEL MA MONCLA A PELLISSIER MC BOCCACCIO I MANDEL JL MATTEI JF
Citation: P. Malzac et al., A RARE EXAMPLE OF A REVERSE MUTATION IN A FRAGILE-X SYNDROME FAMILY, American journal of medical genetics, 64(1), 1996, pp. 17-17
HOMOZYGOSITY FOR A NOVEL MISSENSE MUTATION (I175V) IN EXON-5 OF THE CFTR GENE IN A FAMILY OF ARMENIAN DESCENT
Authors: ROMEY MC DESGEORGES M MALZAC P SARLES J DEMAILLE J CLAUSTRES M
Citation: Mc. Romey et al., HOMOZYGOSITY FOR A NOVEL MISSENSE MUTATION (I175V) IN EXON-5 OF THE CFTR GENE IN A FAMILY OF ARMENIAN DESCENT, Human molecular genetics, 3(4), 1994, pp. 661-662
A NOVEL SPLICE-SITE MUTATION IN THE FIRST EXON OF THE CYSTIC-FIBROSISTRANSMEMBRANE REGULATOR (CFTR) GENE IDENTIFIED IN A CBAVD PATIENT
Authors: CULARD JF DESGEORGES M ROMEY MC MALZAC P DEMAILLE J CLAUSTRES M
Citation: Jf. Culard et al., A NOVEL SPLICE-SITE MUTATION IN THE FIRST EXON OF THE CYSTIC-FIBROSISTRANSMEMBRANE REGULATOR (CFTR) GENE IDENTIFIED IN A CBAVD PATIENT, Human molecular genetics, 3(2), 1994, pp. 369-370
THE ANGELMAN SYNDROME
Authors: MONCLA A LIVET MO MALZAC P VOELCKEL MA MATTEI MG MATTEI JF GIRAUD F
Citation: A. Moncla et al., THE ANGELMAN SYNDROME, Archives de pediatrie, 1(12), 1994, pp. 1118-1126
LOCALIZATION OF A NOVEL RYANODINE RECEPTOR GENE (RYR3) TO HUMAN CHROMOSOME-15Q14-Q15 BY IN-SITU HYBRIDIZATION
Authors: SORRENTINO V GIANNINI G MALZAC P MATTEI MG
Citation: V. Sorrentino et al., LOCALIZATION OF A NOVEL RYANODINE RECEPTOR GENE (RYR3) TO HUMAN CHROMOSOME-15Q14-Q15 BY IN-SITU HYBRIDIZATION, Genomics, 18(1), 1993, pp. 163-165
Risultati: 1-18 |