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Results: 1-25 | 26-34
Results: 1-25/34
46,XY COMPLETE GONADAL-DYSGENESIS (SYWERS-SYNDROME) AND 46,XY PARTIALGONADAL-DYSGENESIS ASSOCIATED WITH DELETIONS OF 9P
Authors: VEITIA R GONCALVES J SILVA M RODRIGUES JC BOIEIRO F MARQUES R LAVINHA J CASPURRO M NUNES M RAPPAPORT R THIBAUD E JAUBERT F FELLOUS M MCELREAVEY K
Citation: R. Veitia et al., 46,XY COMPLETE GONADAL-DYSGENESIS (SYWERS-SYNDROME) AND 46,XY PARTIALGONADAL-DYSGENESIS ASSOCIATED WITH DELETIONS OF 9P, European journal of human genetics, 6, 1998, pp. 1098-1098
THE NATURAL STRESS PROTECTANT TREHALOSE ALTERS INTRACELLULAR-LOCALIZATION OF MUTANT CFTR PROTEIN
Authors: AMARAL M PENQUE D FARINHA C GOMES A ALVES P LAVINHA J
Citation: M. Amaral et al., THE NATURAL STRESS PROTECTANT TREHALOSE ALTERS INTRACELLULAR-LOCALIZATION OF MUTANT CFTR PROTEIN, European journal of human genetics, 6, 1998, pp. 1127-1127
A MALE WITH A MILD ANDROGEN INSENSITIVITY PHENOTYPE AND A MUTATION INTHE ANDROGEN RECEPTOR DNA-BINDING DOMAIN
Authors: GONCALVES J MEDEIROS S SEBASTIAO C LAVINHA J
Citation: J. Goncalves et al., A MALE WITH A MILD ANDROGEN INSENSITIVITY PHENOTYPE AND A MUTATION INTHE ANDROGEN RECEPTOR DNA-BINDING DOMAIN, European journal of human genetics, 6, 1998, pp. 4051-4051
NOVEL FRAMESHIFT MUTATION AT CODON 77 78(-C) IN A HB S-BETA ZERO-THALASSEMIA PATIENT FROM GUINEA-BISSAU (WEST-AFRICA)/
Authors: PACHECO P LOUREIRO P CANDEIAS F PICANCO I LAVINHA J
Citation: P. Pacheco et al., NOVEL FRAMESHIFT MUTATION AT CODON 77 78(-C) IN A HB S-BETA ZERO-THALASSEMIA PATIENT FROM GUINEA-BISSAU (WEST-AFRICA)/, European journal of human genetics, 6, 1998, pp. 4052-4052
NONSENSE CODON-121 BETA-THALASSEMIA MUTATION IN THE PORTUGUESE POPULATION - A DE-NOVO OCCURRENCE
Authors: PACHECO P FAUSTINO P SANTOS E BARBOT J LOUREIRO P ISIDRO G PERES MJ PICANCO I LAVINHA J
Citation: P. Pacheco et al., NONSENSE CODON-121 BETA-THALASSEMIA MUTATION IN THE PORTUGUESE POPULATION - A DE-NOVO OCCURRENCE, European journal of human genetics, 6, 1998, pp. 4053-4053
NONRANDOM X-CHROMOSOME INACTIVATION IN A FEMALE WITH SEVERE FACTOR-VIII DEFICIENCY, HOMOZYGOUS FOR THE FVIII INVERSION MUTATION
Authors: DAVID D MORAIS S VENTURA C SANTOS AIM LAVINHA J CAMPOS M
Citation: D. David et al., NONRANDOM X-CHROMOSOME INACTIVATION IN A FEMALE WITH SEVERE FACTOR-VIII DEFICIENCY, HOMOZYGOUS FOR THE FVIII INVERSION MUTATION, European journal of human genetics, 6, 1998, pp. 4056-4056
MOLECULAR PATHOLOGY OF FACTOR-VII DEFICIENCY IN PATIENTS OF PORTUGUESE ORIGIN
Authors: MOREIRA I TAVARES A DINIZ MJ GAGO T SANTOS HA BARBOT J LAVINHA J DAVID D
Citation: I. Moreira et al., MOLECULAR PATHOLOGY OF FACTOR-VII DEFICIENCY IN PATIENTS OF PORTUGUESE ORIGIN, European journal of human genetics, 6, 1998, pp. 4057-4057
IDENTIFICATION OF GENOMIC SEQUENCES THAT REGULATE CYTOPLASMIC BETA-GLOBIN MESSENGER-RNA ACCUMULATION
Authors: ROMAO L SANTOS S LAVINHA J
Citation: L. Romao et al., IDENTIFICATION OF GENOMIC SEQUENCES THAT REGULATE CYTOPLASMIC BETA-GLOBIN MESSENGER-RNA ACCUMULATION, European journal of human genetics, 6, 1998, pp. 4073-4073
MOLECULAR AND CELLULAR EFFECTS OF THE CYSTIC-FIBROSIS SPLICING MUTATION 3272-26A(R)G IN NASAL POLYPS, PRIMARY CULTURES AND LYMPHOCYTES
Authors: GARCIA S PENQUE D DUARTE A FARINHA C GOMES A MATA L GULBENKIAN S GILFERREIRA K PACHECO P LAVINHA J MARGARIDA A
Citation: S. Garcia et al., MOLECULAR AND CELLULAR EFFECTS OF THE CYSTIC-FIBROSIS SPLICING MUTATION 3272-26A(R)G IN NASAL POLYPS, PRIMARY CULTURES AND LYMPHOCYTES, European journal of human genetics, 6, 1998, pp. 5015-5015
CYSTIC-FIBROSIS - CELLULAR CHARACTERIZATION OF A561E PORTUGUESE MUTATION
Authors: PENQUE D GOMES A MOCK M FARINHA C MALHO R DEMOLOMBE S ESCANDE D LAVINHA J AMARAL MD
Citation: D. Penque et al., CYSTIC-FIBROSIS - CELLULAR CHARACTERIZATION OF A561E PORTUGUESE MUTATION, European journal of human genetics, 6, 1998, pp. 5016-5016
THE DELTA-CCR5 MUTATION CONFERRING PROTECTION AGAINST HIV-1 IN CAUCASIAN POPULATIONS HAS A SINGLE AND RECENT ORIGIN IN NORTHEASTERN EUROPE
Authors: LIBERT F COCHAUX P BECKMAN G SAMSON M AKSENOVA M CAO A CZEIZEL A CLAUSTRES M DELARUA C FERRARI M FERREC C GLOVER G GRINDE B GURAN S KUCINSKAS V LAVINHA J MERCIER B OGUR G PELTONEN L ROSATELLI C SCHWARTZ M SPITSYN V TIMAR L BECKMAN L PARMENTIER M VASSART G
Citation: F. Libert et al., THE DELTA-CCR5 MUTATION CONFERRING PROTECTION AGAINST HIV-1 IN CAUCASIAN POPULATIONS HAS A SINGLE AND RECENT ORIGIN IN NORTHEASTERN EUROPE, Human molecular genetics, 7(3), 1998, pp. 399-406
COMBINED EFFECT OF 2 DIFFERENT POLYMORPHIC SEQUENCES WITHIN THE BETA-GLOBIN GENE-CLUSTER ON THE LEVEL OF HBF
Authors: GONCALVES I DUCROCQ R LAVINHA J NOGUEIRA PJ PERES MJ PICANCO I CORREIA E REIS AB SILVA C KRISHNAMOORTHY R ALMEIDA LO
Citation: I. Goncalves et al., COMBINED EFFECT OF 2 DIFFERENT POLYMORPHIC SEQUENCES WITHIN THE BETA-GLOBIN GENE-CLUSTER ON THE LEVEL OF HBF, American journal of hematology, 57(4), 1998, pp. 269-276
DOMINANTLY TRANSMITTED BETA-THALASSEMIA ARISING FROM THE PRODUCTION OF SEVERAL ABERRANT MESSENGER-RNA SPECIES AND ONE ABNORMAL PEPTIDE
Authors: FAUSTINO P OSORIOALMEIDA L ROMAO L BARBOT J FERNANDES B JUSTICA B LAVINHA J
Citation: P. Faustino et al., DOMINANTLY TRANSMITTED BETA-THALASSEMIA ARISING FROM THE PRODUCTION OF SEVERAL ABERRANT MESSENGER-RNA SPECIES AND ONE ABNORMAL PEPTIDE, Blood, 91(2), 1998, pp. 685-690
NETWORK ANALYSES OF Y-CHROMOSOMAL TYPES IN EUROPE, NORTHERN AFRICA, AND WESTERN ASIA REVEAL SPECIFIC PATTERNS OF GEOGRAPHIC-DISTRIBUTION
Authors: MALASPINA P CRUCIANI F CIMINELLI BM TERRENATO L SANTOLAMAZZA P ALONSO A BANYKO J BRDICKA R GARCIA O GAUDIANO C GUANTI G KIDD KK LAVINHA J AVILA M MANDICH P MORAL P QAMAR R MEHDI SQ RAGUSA A SEFANESCU G CARAGHIN M TYLERSMITH C SCOZZARI R NOVELLETTO A
Citation: P. Malaspina et al., NETWORK ANALYSES OF Y-CHROMOSOMAL TYPES IN EUROPE, NORTHERN AFRICA, AND WESTERN ASIA REVEAL SPECIFIC PATTERNS OF GEOGRAPHIC-DISTRIBUTION, American journal of human genetics, 63(3), 1998, pp. 847-860
SWYER-SYNDROME AND 46,XY PARTIAL GONADAL-DYSGENESIS ASSOCIATED WITH 9P DELETIONS IN THE ABSENCE OF MONOSOMY-9P SYNDROME
Authors: VEITIA RA NUNES M QUINTANAMURCI L RAPPAPORT R THIBAUD E JAUBERT E FELLOUS M MCELREAVEY K GONCALVES J SILVA M RODRIGUES JC CASPURRO M BOIEIRO F MARQUES R LAVINHA J
Citation: Ra. Veitia et al., SWYER-SYNDROME AND 46,XY PARTIAL GONADAL-DYSGENESIS ASSOCIATED WITH 9P DELETIONS IN THE ABSENCE OF MONOSOMY-9P SYNDROME, American journal of human genetics, 63(3), 1998, pp. 901-905
HETEROGENEOUS ETHNIC DISTRIBUTION OF THE 844INS68 IN THE CYSTATHIONINE BETA-SYNTHASE GENE
Authors: FRANCO RF ELION J LAVINHA J KRISHNAMOORTHY R TAVELLA MH ZAGO MA
Citation: Rf. Franco et al., HETEROGENEOUS ETHNIC DISTRIBUTION OF THE 844INS68 IN THE CYSTATHIONINE BETA-SYNTHASE GENE, Human heredity, 48(6), 1998, pp. 338-342
MISSENSE MUTATION R1066C IN THE 2ND TRANSMEMBRANE DOMAIN OF CFTR CAUSES A SEVERE CYSTIC-FIBROSIS PHENOTYPE - STUDY OF 19 HETEROZYGOUS AND 2HOMOZYGOUS PATIENTS
Authors: CASALS T PACHECO P BARRETO C GIMENEZ J RAMOS MD PEREIRA S PINHEIRO JA COBOS N CURVELO A VAZQUEZ C ROCHA H SECULI JL PEREZ E DAPENA J CARRILHO E DUARTE A PALACIO AM NUNES V LAVINHA J ESTIVILL X
Citation: T. Casals et al., MISSENSE MUTATION R1066C IN THE 2ND TRANSMEMBRANE DOMAIN OF CFTR CAUSES A SEVERE CYSTIC-FIBROSIS PHENOTYPE - STUDY OF 19 HETEROZYGOUS AND 2HOMOZYGOUS PATIENTS, Human mutation, 10(5), 1997, pp. 387-392
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
PRENATAL-DIAGNOSIS IN A FAMILY WITH HEREDITARY FACTOR-VII DEFICIENCY
Authors: MOREIRA I BARBOT J FORTUNA A LAVINHA J DAVID D
Citation: I. Moreira et al., PRENATAL-DIAGNOSIS IN A FAMILY WITH HEREDITARY FACTOR-VII DEFICIENCY, Thrombosis and haemostasis, 1997, pp. 2961-2961
COMPLEX CYSTIC-FIBROSIS ALLELE R334W-R1158X RESULTS IN REDUCED LEVELSOF CORRECTLY PROCESSED MESSENGER-RNA IN A PANCREATIC SUFFICIENT PATIENT
Authors: DUARTE A AMARAL M BARRETO C PACHECO P LAVINHA J
Citation: A. Duarte et al., COMPLEX CYSTIC-FIBROSIS ALLELE R334W-R1158X RESULTS IN REDUCED LEVELSOF CORRECTLY PROCESSED MESSENGER-RNA IN A PANCREATIC SUFFICIENT PATIENT, Human mutation, 8(2), 1996, pp. 134-139
HAPLOTYPIC HETEROGENEITY OF BETA-THALASSEMIA IVS I-1(G-]A) MUTATION IN SOUTHERN PORTUGAL
Authors: PACHECO P LOUREIRO P FAUSTINO P LAVINHA J
Citation: P. Pacheco et al., HAPLOTYPIC HETEROGENEITY OF BETA-THALASSEMIA IVS I-1(G-]A) MUTATION IN SOUTHERN PORTUGAL, British Journal of Haematology, 94(4), 1996, pp. 767-767
BETA-THALASSEMIA MUTATION AT -90C-]T IMPAIRS THE INTERACTION OF THE PROXIMAL CACCC BOX WITH BOTH ERYTHROID AND NONERYTHROID FACTORS
Authors: FAUSTINO P LAVINHA J MARINI MG MOI P
Citation: P. Faustino et al., BETA-THALASSEMIA MUTATION AT -90C-]T IMPAIRS THE INTERACTION OF THE PROXIMAL CACCC BOX WITH BOTH ERYTHROID AND NONERYTHROID FACTORS, Blood, 88(8), 1996, pp. 3248-3249
MOLECULAR-BASIS OF ALPHA-THALASSEMIA IN PORTUGAL
Authors: PERES MJ ROMAO L CARREIRO H PICANCO I BATALHA L MAGALHAES HA MARTINS MC LAVINHA J
Citation: Mj. Peres et al., MOLECULAR-BASIS OF ALPHA-THALASSEMIA IN PORTUGAL, Hemoglobin, 19(6), 1995, pp. 343-352
AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE - EVIDENCE FOR THE EXISTENCE OF A 3RD LOCUS IN A PORTUGUESE FAMILY
Authors: DEALMEIDA S DEALMEIDA E PETERS D PINTO JR TAVORA I LAVINHA J BREUNING M PRATA MM
Citation: S. Dealmeida et al., AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE - EVIDENCE FOR THE EXISTENCE OF A 3RD LOCUS IN A PORTUGUESE FAMILY, Human genetics, 96(1), 1995, pp. 83-88
CHARACTERIZATION OF A SPLICING MUTATION IN THE FACTOR-VIII GENE AT THE RNA LEVEL
Authors: DAVID D TAVARES A LAVINHA J
Citation: D. David et al., CHARACTERIZATION OF A SPLICING MUTATION IN THE FACTOR-VIII GENE AT THE RNA LEVEL, Human genetics, 95(1), 1995, pp. 109-111
Risultati: 1-25 | 26-34