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Results: 1-25 | 26-46
Results: 1-25/46
A CLINICAL VARIANT OF NEUROFIBROMATOSIS TYPE-1 - FAMILIAL SPINAL NEUROFIBROMATOSIS WITH A FRAMESHIFT MUTATION IN THE NF1 GENE
Authors: ARS E KRUYER H GAONA A CASQUERO P ROSELL J VOLPINI V SERRA E LAZARO C ESTIVILL X
Citation: E. Ars et al., A CLINICAL VARIANT OF NEUROFIBROMATOSIS TYPE-1 - FAMILIAL SPINAL NEUROFIBROMATOSIS WITH A FRAMESHIFT MUTATION IN THE NF1 GENE, American journal of human genetics, 62(4), 1998, pp. 834-841
IDENTIFICATION OF WASP MUTATIONS IN 6 SPANISH PATIENTS WITH WISKOTT-ALDRICH-SYNDROME
Authors: FILLAT C OSET M ESPANOL T ESTIVILL X VOLPINI V
Citation: C. Fillat et al., IDENTIFICATION OF WASP MUTATIONS IN 6 SPANISH PATIENTS WITH WISKOTT-ALDRICH-SYNDROME, European journal of human genetics, 6, 1998, pp. 4127-4127
LARGE CAG CTG REPEAT TEMPLATES PRODUCED BY PCR, USEFULNESS FOR THE DIRECT METHOD OF CLONING GENES WITH CAG/CTG REPEAT EXPANSIONS/
Authors: PUJANA MA VOLPINI V ESTIVILL X
Citation: Ma. Pujana et al., LARGE CAG CTG REPEAT TEMPLATES PRODUCED BY PCR, USEFULNESS FOR THE DIRECT METHOD OF CLONING GENES WITH CAG/CTG REPEAT EXPANSIONS/, Nucleic acids research, 26(5), 1998, pp. 1352-1353
CAG REPEAT EXPANSION IN PARENT-OFFSPRING PAIRS OF SCHIZOPHRENIC-PATIENTS
Authors: MARTORELL L PUJANA MA VALERO J VOLPINI V LABAD A ESTIVILL X VILELLA E
Citation: L. Martorell et al., CAG REPEAT EXPANSION IN PARENT-OFFSPRING PAIRS OF SCHIZOPHRENIC-PATIENTS, American journal of medical genetics, 81(6), 1998, pp. 534-534
CLINICAL, GENETIC AND MOLECULAR STUDIES O N AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE
Authors: TORRA R BADENAS C DARNELL A NICOLAU C VOLPINI V REVERT L ESTIVILL X
Citation: R. Torra et al., CLINICAL, GENETIC AND MOLECULAR STUDIES O N AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE, Medicina Clinica, 110(13), 1998, pp. 481-487
UNCLONED EXPANDED CAG CTG REPEAT SEQUENCES IN AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA (ADCA) DETECTED BY THE REPEAT EXPANSION DETECTION (RED) METHOD/
Authors: PUJANA MA VOLPINI V GRATACOS M CORRAL J BANCHS I SANCHEZ A GENIS D CERVERA C ESTIVILL X
Citation: Ma. Pujana et al., UNCLONED EXPANDED CAG CTG REPEAT SEQUENCES IN AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA (ADCA) DETECTED BY THE REPEAT EXPANSION DETECTION (RED) METHOD/, Journal of Medical Genetics, 35(2), 1998, pp. 99-102
INCIDENCE OF CDKN2A MUTATIONS IN MELANOMA FAMILIES - INHERITED SUSCEPTIBILITY TO SEVERAL CANCERS BUT NOT ALWAYS ASSOCIATION WITH DYSPLASTICNEVUS SYNDROME
Authors: PUIG S MALVEHY J RUIZ A LAZARO C VOLPINI V CARDELLACH F LECHA M ESTIVILL X CASTEL T
Citation: S. Puig et al., INCIDENCE OF CDKN2A MUTATIONS IN MELANOMA FAMILIES - INHERITED SUSCEPTIBILITY TO SEVERAL CANCERS BUT NOT ALWAYS ASSOCIATION WITH DYSPLASTICNEVUS SYNDROME, Journal of investigative dermatology, 110(4), 1998, pp. 617-617
THE REPEAT EXPANSION DETECTION METHOD IN THE ANALYSIS OF DISEASES WITH CAG CTG REPEAT EXPANSION - USEFULNESS AND LIMITATIONS/
Authors: MARTORELL L PUJANA MA VOLPINI V SANCHEZ A JOVEN J VILELLA E ESTIVILL X
Citation: L. Martorell et al., THE REPEAT EXPANSION DETECTION METHOD IN THE ANALYSIS OF DISEASES WITH CAG CTG REPEAT EXPANSION - USEFULNESS AND LIMITATIONS/, Human mutation, 10(6), 1997, pp. 486-488
LINKAGE OF DFNB1 TO NON-SYNDROMIC NEUROSENSORY AUTOSOMAL-RECESSIVE DEAFNESS IN MEDITERRANEAN FAMILIES
Authors: GASPARINI P ESTIVILL X VOLPINI V TOTARO A CASTELLVIBEL S GOVEA N MILA M DELLAMONICA M VENTRUTO V DEBENEDETTO M STANZIALE P ZELANTE L MANSFIELD ES SANDKUIJL L SURREY S FORTINA P
Citation: P. Gasparini et al., LINKAGE OF DFNB1 TO NON-SYNDROMIC NEUROSENSORY AUTOSOMAL-RECESSIVE DEAFNESS IN MEDITERRANEAN FAMILIES, European journal of human genetics, 5(2), 1997, pp. 83-88
ANALYSIS OF AMINO-ACID AND NUCLEOTIDE VARIANTS IN THE SPINOCEREBELLARATAXIA TYPE-1 (SCA1) GENE IN SCHIZOPHRENIC-PATIENTS
Authors: PUJANA MA MARTORELL L VOLPINI V VALERO J LABAD A VILELLA E ESTIVILL X
Citation: Ma. Pujana et al., ANALYSIS OF AMINO-ACID AND NUCLEOTIDE VARIANTS IN THE SPINOCEREBELLARATAXIA TYPE-1 (SCA1) GENE IN SCHIZOPHRENIC-PATIENTS, Human genetics, 99(6), 1997, pp. 772-775
INHERITED SUSCEPTIBILITY TO SEVERAL CANCERS BUT ABSENCE OF LINKAGE BETWEEN DYSPLASTIC NEVUS SYNDROME AND CDKN2A IN A MELANOMA FAMILY WITH AMUTATION IN THE CDKN2A (P16INK4A) GENE
Authors: PUIG S RUIZ A CASTEL T VOLPINI V MALVEHY J CARDELLACH F LYNCH M MASCARO JM ESTIVILL X
Citation: S. Puig et al., INHERITED SUSCEPTIBILITY TO SEVERAL CANCERS BUT ABSENCE OF LINKAGE BETWEEN DYSPLASTIC NEVUS SYNDROME AND CDKN2A IN A MELANOMA FAMILY WITH AMUTATION IN THE CDKN2A (P16INK4A) GENE, Human genetics, 101(3), 1997, pp. 359-364
POLYMORPHISMS AT 13 EXPRESSED HUMAN SEQUENCES CONTAINING CAG CTG REPEATS AND ANALYSIS IN AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA (ADCA) PATIENTS/
Authors: PUJANA MA GRATACOS M CORRAL J BANCHS I SANCHEZ A GENIS D CERVERA C VOLPINI V ESTIVILL X
Citation: Ma. Pujana et al., POLYMORPHISMS AT 13 EXPRESSED HUMAN SEQUENCES CONTAINING CAG CTG REPEATS AND ANALYSIS IN AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA (ADCA) PATIENTS/, Human genetics, 101(1), 1997, pp. 18-21
ABSENCE OF LINKAGE BETWEEN TYPE-III PROTEIN-S DEFICIENCY AND THE PROS1 AND C4BP GENES IN FAMILIES CARRYING THE PS HEERLEN ALLELE
Authors: ESPINOSAPARRILLA Y MORELL M SOUTO JC HEINESUNER D BORRELL M TIRADO I VOLPINI V ESTIVILL X SALA N
Citation: Y. Espinosaparrilla et al., ABSENCE OF LINKAGE BETWEEN TYPE-III PROTEIN-S DEFICIENCY AND THE PROS1 AND C4BP GENES IN FAMILIES CARRYING THE PS HEERLEN ALLELE, Thrombosis and haemostasis, 1997, pp. 758-758
COSEGREGATION OF PANIC DISORDER AND JOINT HYPERMOBILITY SYNDROME IN SPANISH FAMILIES
Authors: MARTINSANTOS R GRATACOS M GAGO J SANGORRIN J NADAL M PUJANA MA VOLPINI V ESTIVILL X BULBENA A
Citation: R. Martinsantos et al., COSEGREGATION OF PANIC DISORDER AND JOINT HYPERMOBILITY SYNDROME IN SPANISH FAMILIES, American journal of medical genetics, 74(6), 1997, pp. 653-653
AMINO-ACID AND NUCLEOTIDE VARIANTS IN THE SPINOCEREBELLAR ATAXIA TYPE-1 GENE IN SCHIZOPHRENIC-PATIENTS
Authors: PUJANA MA MARTORELL L VOLPINI V VALERO J LABAD A VILELLA E ESTIVILL X
Citation: Ma. Pujana et al., AMINO-ACID AND NUCLEOTIDE VARIANTS IN THE SPINOCEREBELLAR ATAXIA TYPE-1 GENE IN SCHIZOPHRENIC-PATIENTS, American journal of medical genetics, 74(6), 1997, pp. 667-667
MACHADO-JOSEPH-DISEASE, SPINOPONTINE ATROPHY, AND SCA3
Authors: GENIS D VOLPINI V
Citation: D. Genis et V. Volpini, MACHADO-JOSEPH-DISEASE, SPINOPONTINE ATROPHY, AND SCA3, Neurology, 48(4), 1997, pp. 1137-1138
ABSENCE OF LINKAGE BETWEEN TYPE-III PROTEIN-S DEFICIENCY AND THE PROS1 AND C4BP GENES IN FAMILIES CARRYING THE PROTEIN-S HEERLEN ALLELE
Authors: ESPINOSAPARRILLA Y MORELL M SOUTO JC BORRELL M HEINESUNER D TIRADO I VOLPINI V ESTIVILL X SALA N
Citation: Y. Espinosaparrilla et al., ABSENCE OF LINKAGE BETWEEN TYPE-III PROTEIN-S DEFICIENCY AND THE PROS1 AND C4BP GENES IN FAMILIES CARRYING THE PROTEIN-S HEERLEN ALLELE, Blood, 89(8), 1997, pp. 2799-2806
FAMILIAL SPINAL NEUROFIBROMATOSIS - IDENTIFICATION OF A FRAMESHIFT MUTATION IN EXON-46 IN THE NEUROFIBROMATOSIS TYPE-1 (NF1) GENE
Authors: ARS E KRUYER H GAONA A CASQUERO P ROSELL J SERRA E VOLPINI V LAZARO C ESTIVILL X
Citation: E. Ars et al., FAMILIAL SPINAL NEUROFIBROMATOSIS - IDENTIFICATION OF A FRAMESHIFT MUTATION IN EXON-46 IN THE NEUROFIBROMATOSIS TYPE-1 (NF1) GENE, American journal of human genetics, 61(4), 1997, pp. 318-318
CLINICAL-FEATURES OF POLYCYSTIC KIDNEY-DISEASE TYPE-1 AND TYPE-2
Authors: TORRA R BADENAS C NICOLAU C VOLPINI V REVERT L ESTIVILL X DARNELL A
Citation: R. Torra et al., CLINICAL-FEATURES OF POLYCYSTIC KIDNEY-DISEASE TYPE-1 AND TYPE-2, Journal of the American Society of Nephrology, 7(9), 1996, pp. 1874-1874
LINKAGE, CLINICAL-FEATURES, AND PROGNOSIS OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE TYPE-1 AND TYPE-2
Authors: TORRA R BADENAS C DARNELL A NICOLAU C VOLPINI V REVERT L ESTIVILL X
Citation: R. Torra et al., LINKAGE, CLINICAL-FEATURES, AND PROGNOSIS OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE TYPE-1 AND TYPE-2, Journal of the American Society of Nephrology, 7(10), 1996, pp. 2142-2151
SEX-DIFFERENCES IN MUTATIONAL RATE AND MUTATIONAL MECHANISM IN THE NF1 GENE IN NEUROFIBROMATOSIS TYPE-1 PATIENTS
Authors: LAZARO C GAONA A AINSWORTH P TENCONI R VIDAUD D KRUYER H ARS E VOLPINI V ESTIVILL X
Citation: C. Lazaro et al., SEX-DIFFERENCES IN MUTATIONAL RATE AND MUTATIONAL MECHANISM IN THE NF1 GENE IN NEUROFIBROMATOSIS TYPE-1 PATIENTS, Human genetics, 98(6), 1996, pp. 696-699
CLONING (CAG GTC)N STSS BY AN ALU-(CAG/GTC)N PCR METHOD - AN APPROACHTO HUMAN-CHROMOSOME-12 AND SPINOCEREBELLAR ATAXIA-2 (SCA2)/
Authors: PUJANA MA VOLPINI V ESTIVILL X
Citation: Ma. Pujana et al., CLONING (CAG GTC)N STSS BY AN ALU-(CAG/GTC)N PCR METHOD - AN APPROACHTO HUMAN-CHROMOSOME-12 AND SPINOCEREBELLAR ATAXIA-2 (SCA2)/, Nucleic acids research, 24(18), 1996, pp. 3651-3652
THE MOLECULAR PATHOLOGY OF RET PROTOONCOG EN IN FAMILIES WITH MULTIPLE ENDOCRINE NEOPLASM TYPE 2A
Authors: BIARNES J MIRANDA M CORRAL J GABAU E MATIASGUIU X MATILLA A SOLER J ESTIVILL X VOLPINI V
Citation: J. Biarnes et al., THE MOLECULAR PATHOLOGY OF RET PROTOONCOG EN IN FAMILIES WITH MULTIPLE ENDOCRINE NEOPLASM TYPE 2A, Medicina Clinica, 107(9), 1996, pp. 321-325
A NUCLEAR DEFECT IN THE 4P16 REGION PREDISPOSES TO MULTIPLE MITOCHONDRIAL-DNA DELETIONS IN FAMILIES WITH WOLFRAM-SYNDROME
Authors: BARRIENTOS A VOLPINI V CASADEMONT J GENIS D MANZANARES JM FERRER I CORRAL J CARDELLACH F URBANOMARQUEZ A ESTIVILL X NUNES V
Citation: A. Barrientos et al., A NUCLEAR DEFECT IN THE 4P16 REGION PREDISPOSES TO MULTIPLE MITOCHONDRIAL-DNA DELETIONS IN FAMILIES WITH WOLFRAM-SYNDROME, The Journal of clinical investigation, 97(7), 1996, pp. 1570-1576
AUTOSOMAL RECESSIVE WOLFRAM-SYNDROME ASSOCIATED WITH AN 8.5-KB MTDNA SINGLE DELETION
Authors: BARRIENTOS A CASADEMONT J SAIZ A CARDELLACH F VOLPINI V SOLANS A TOLOSA E URBANOMARQUEZ A ESTIVILL X NUNES V
Citation: A. Barrientos et al., AUTOSOMAL RECESSIVE WOLFRAM-SYNDROME ASSOCIATED WITH AN 8.5-KB MTDNA SINGLE DELETION, American journal of human genetics, 58(5), 1996, pp. 963-970
Risultati: 1-25 | 26-46