Unit for Multidisciplinary Research in Biomedicine (UMIB)
Unidade Multidisciplinar de Investigação Biomédica
Laboratory for Integrative and Translational Research in Population Health (ITR)
AuthID: I-000-1CZ
Publications Actions
Publications at Authenticus Institutional Profile
An Authenticus institution (group) is an organization which consists of a set of researchers (institutional/group team). The set of researchers depends on the organizational structure of the institution per year and can be set at the institution profile, under ‘Researchers’ interface. Based on the institutional team we produce listings of publications, statistics and institutional reports.
Publications displayed at an Authenticus institutional profile depend on two parameters:
- Researchers team associated with the institution per year.
- Publications source type.
We define 3 types of publication sources:
- Validated by team members - includes all publications validated by team members. Requires the definition of the institutional team.
- All published by team members - includes all publications validated by the institution team members plus all not-validated (only identified) publications. Requires the definition of the institutional team.
- Affiliation Based - includes publications that have the institution/group in the publication affiliation. Does not require institutional team, but at the same time does not guarantee that all publications will be listed.
External
Internal
No data about last update.
Rules:
This actions updates publications citations of every team member.
Only validated by team members publications are included.
Only the current year team is included in this action.>
The action is executed in the background, thus the results are NOT immediate.
This actions can be executed only once a month!
Only validated by team members publications are included.
Only the current year team is included in this action.>
The action is executed in the background, thus the results are NOT immediate.
This actions can be executed only once a month!
No data about last update.
Rules:
This actions updates all pre print publications of the group/institution.
Only validated by current year team members publications are included.
The action is executed in the background, thus the results are NOT immediate.
This actions can be executed only once a day!
Only validated by current year team members publications are included.
The action is executed in the background, thus the results are NOT immediate.
This actions can be executed only once a day!
Publications Count: 2790
184 Team MembersFilters -> Year: 2026
2521
TITLE: High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome
AUTHORS: Kamp, C; Huellen, K; Fernandes, S; Sousa, M ; Schlegel, PN; Mielnik, A; Kleiman, S; Yavetz, H; Krause, W; Kupker, W; Johannisson, R; Schulze, W; Weidner, W; Barros, A ; Vogt, PH;
PUBLISHED: 2001, SOURCE: MOLECULAR HUMAN REPRODUCTION, VOLUME: 7, ISSUE: 10, PAGES: 987-994
AUTHORS: Kamp, C; Huellen, K; Fernandes, S; Sousa, M ; Schlegel, PN; Mielnik, A; Kleiman, S; Yavetz, H; Krause, W; Kupker, W; Johannisson, R; Schulze, W; Weidner, W; Barros, A ; Vogt, PH;
PUBLISHED: 2001, SOURCE: MOLECULAR HUMAN REPRODUCTION, VOLUME: 7, ISSUE: 10, PAGES: 987-994
2522
TITLE: Homozygosity mapping of portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity
AUTHORS: Moreira, MD; Barbot, C ; Tachi, N; Kozuka, N; Mendonca, P; Barros, José ; Coutinho, P ; Sequeiros, J ; Koenig, M;
PUBLISHED: 2001, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 68, ISSUE: 2, PAGES: 501-508
AUTHORS: Moreira, MD; Barbot, C ; Tachi, N; Kozuka, N; Mendonca, P; Barros, José ; Coutinho, P ; Sequeiros, J ; Koenig, M;
PUBLISHED: 2001, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 68, ISSUE: 2, PAGES: 501-508
2523
TITLE: How counseling carriers of transthyretin Val30Met mutation and end-stage renal disease in the family?
AUTHORS: Lobato, L; Beirao, I ; Silva, M; Sequeiros, J ; Sousa, A;
PUBLISHED: 2001, SOURCE: AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, VOLUME: 8, PAGES: 96-96
AUTHORS: Lobato, L; Beirao, I ; Silva, M; Sequeiros, J ; Sousa, A;
PUBLISHED: 2001, SOURCE: AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, VOLUME: 8, PAGES: 96-96
INDEXED IN: 
WOS
WOS2524
TITLE: Identification of three novel polymorphisms in the MJD1 gene and their frequency study in a Portuguese population.
AUTHORS: Costa, MC; Santos, C; Ferro, A; Santos, M; Sequeiros, J ; Maciel, P;
PUBLISHED: 2001, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 69, ISSUE: 4, PAGES: 417-417
AUTHORS: Costa, MC; Santos, C; Ferro, A; Santos, M; Sequeiros, J ; Maciel, P;
PUBLISHED: 2001, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 69, ISSUE: 4, PAGES: 417-417
INDEXED IN: WOS
WOS2525
TITLE: Improvement in the molecular diagnosis of Machado-Joseph disease
AUTHORS: Maciel, P ; Costa, MDC; Ferro, A; Rousseau, M; Santos, CS; Gaspar, C; Barros, José ; Rouleau, GA; Coutinho, P ; Sequeiros, J ;
PUBLISHED: 2001, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 58, ISSUE: 11, PAGES: 1821-1827
AUTHORS: Maciel, P ; Costa, MDC; Ferro, A; Rousseau, M; Santos, CS; Gaspar, C; Barros, José ; Rouleau, GA; Coutinho, P ; Sequeiros, J ;
PUBLISHED: 2001, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 58, ISSUE: 11, PAGES: 1821-1827
2526
TITLE: Issues in human GenEthics
AUTHORS: Saraiva, JM; Anionwu, E; Belo, M; Jenkins, T; Kristoffersson, U; Marques, I ; Santos, HG; Sequeiros, J ; Simpsom, SA; Wertz, D; Monteiro, C;
PUBLISHED: 2001, SOURCE: Genetics in Medicine, VOLUME: 3, ISSUE: 3, PAGES: 218-219
AUTHORS: Saraiva, JM; Anionwu, E; Belo, M; Jenkins, T; Kristoffersson, U; Marques, I ; Santos, HG; Sequeiros, J ; Simpsom, SA; Wertz, D; Monteiro, C;
PUBLISHED: 2001, SOURCE: Genetics in Medicine, VOLUME: 3, ISSUE: 3, PAGES: 218-219
2527
TITLE: Liver transplantation in a case of argininaemia Full Text
AUTHORS: Silva, ES; Martins, E ; Cardoso, ML; Barbot, C ; Vilarinho, L; Medina, M;
PUBLISHED: 2001, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 24, ISSUE: 8, PAGES: 885-887
AUTHORS: Silva, ES; Martins, E ; Cardoso, ML; Barbot, C ; Vilarinho, L; Medina, M;
PUBLISHED: 2001, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 24, ISSUE: 8, PAGES: 885-887
2528
TITLE: Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds Full Text
AUTHORS: Jardim, LB; Pereira, ML; Silveira, I ; Ferro, A; Sequeiros, J ; Giugliani, R;
PUBLISHED: 2001, SOURCE: ACTA NEUROLOGICA SCANDINAVICA, VOLUME: 104, ISSUE: 4, PAGES: 224-231
AUTHORS: Jardim, LB; Pereira, ML; Silveira, I ; Ferro, A; Sequeiros, J ; Giugliani, R;
PUBLISHED: 2001, SOURCE: ACTA NEUROLOGICA SCANDINAVICA, VOLUME: 104, ISSUE: 4, PAGES: 224-231
2529
TITLE: Mature teratoma of the middle ear
AUTHORS: Roncaroli, F; Scheithauer, BW; Pires, MM ; Rodrigues, AS ; Pereira, JR;
PUBLISHED: 2001, SOURCE: OTOLOGY & NEUROTOLOGY, VOLUME: 22, ISSUE: 1, PAGES: 76-78
AUTHORS: Roncaroli, F; Scheithauer, BW; Pires, MM ; Rodrigues, AS ; Pereira, JR;
PUBLISHED: 2001, SOURCE: OTOLOGY & NEUROTOLOGY, VOLUME: 22, ISSUE: 1, PAGES: 76-78
2530
TITLE: Natural selection at the MJD locus: Phenotypic diversity, survival and fertility among Machado-Joseph Disease patients from the Azores
AUTHORS: Lima, M ; Smith, MT; Silva, C; Abade, A; Mayer, FM; Coutinho, P ;
PUBLISHED: 2001, SOURCE: JOURNAL OF BIOSOCIAL SCIENCE, VOLUME: 33, ISSUE: 3, PAGES: 361-373
AUTHORS: Lima, M ; Smith, MT; Silva, C; Abade, A; Mayer, FM; Coutinho, P ;
PUBLISHED: 2001, SOURCE: JOURNAL OF BIOSOCIAL SCIENCE, VOLUME: 33, ISSUE: 3, PAGES: 361-373
INDEXED IN: 
Scopus WOS
Scopus WOS2531
TITLE: NATURAL SELECTION AT THE MJD LOCUS: PHENOTYPIC DIVERSITY, SURVIVAL AND FERTILITY AMONG MACHADO-JOSEPH DISEASE PATIENTS FROM THE AZORES
AUTHORS: LIMA, M ; SMITH, M; SILVA, C; ABADE, A; MAYER, F; COUTINHO, P;
PUBLISHED: 2001, SOURCE: J. Biosoc. Sci - Journal of Biosocial Science, VOLUME: 33, ISSUE: 3, PAGES: 361-373
AUTHORS: LIMA, M ; SMITH, M; SILVA, C; ABADE, A; MAYER, F; COUTINHO, P;
PUBLISHED: 2001, SOURCE: J. Biosoc. Sci - Journal of Biosocial Science, VOLUME: 33, ISSUE: 3, PAGES: 361-373
INDEXED IN: 
CrossRef
CrossRef2532
TITLE: Neurologic findings in Machado-Joseph disease - Relation with disease duration, subtypes, and (CAG)(n)
AUTHORS: Jardim, LB; Pereira, ML; Silveira, I ; Ferro, A; Sequeiros, J ; Giugliani, R;
PUBLISHED: 2001, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 58, ISSUE: 6, PAGES: 899-904
AUTHORS: Jardim, LB; Pereira, ML; Silveira, I ; Ferro, A; Sequeiros, J ; Giugliani, R;
PUBLISHED: 2001, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 58, ISSUE: 6, PAGES: 899-904
INDEXED IN: Scopus WOS
Scopus WOS2533
TITLE: Ornithine Transcarbamylase Deficiency: Genetics
AUTHORS: Luísa Azevedo ; Amorim, Antonio ;
PUBLISHED: 2001, SOURCE: Encyclopedia of Life Sciences
AUTHORS: Luísa Azevedo ; Amorim, Antonio ;
PUBLISHED: 2001, SOURCE: Encyclopedia of Life Sciences
INDEXED IN: CrossRef
CrossRef2534
TITLE: Parkinsonism phenotype in a large Azorean family affect with Machado-Joseph Disease.
AUTHORS: Mota Vieira, L; Ferro, A; Silveira, I; Sequeiros, J ; Coutinho, P; Lopes, J;
PUBLISHED: 2001, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 69, ISSUE: 4, PAGES: 308-308
AUTHORS: Mota Vieira, L; Ferro, A; Silveira, I; Sequeiros, J ; Coutinho, P; Lopes, J;
PUBLISHED: 2001, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 69, ISSUE: 4, PAGES: 308-308
INDEXED IN: WOS
WOS2535
TITLE: Preimplantation genetic diagnosis for familial amyloidotic polyneuropathy (FAP) Full Text
AUTHORS: Carvalho, F ; Sousa, M ; Fernandes, S; Silva, J; Saraiva, MJ ; Barros, A ;
PUBLISHED: 2001, SOURCE: PRENATAL DIAGNOSIS, VOLUME: 21, ISSUE: 12, PAGES: 1093-1099
AUTHORS: Carvalho, F ; Sousa, M ; Fernandes, S; Silva, J; Saraiva, MJ ; Barros, A ;
PUBLISHED: 2001, SOURCE: PRENATAL DIAGNOSIS, VOLUME: 21, ISSUE: 12, PAGES: 1093-1099
2536
TITLE: Preimplantation genetic diagnosis of familial amyloidotic polyneuropathy
AUTHORS: Carvalho, F ; Sousa, M ; Fernandes, S; Almeida, V ; Silva, J; Braga, J; Goncalves, J; Barros, A ;
PUBLISHED: 2001, SOURCE: HUMAN REPRODUCTION, VOLUME: 16, PAGES: 51-51
AUTHORS: Carvalho, F ; Sousa, M ; Fernandes, S; Almeida, V ; Silva, J; Braga, J; Goncalves, J; Barros, A ;
PUBLISHED: 2001, SOURCE: HUMAN REPRODUCTION, VOLUME: 16, PAGES: 51-51
INDEXED IN: WOS
WOS2537
TITLE: Prognosis in non-obstructive azoospermia: the importance of Y-chromosome microdeletions in the AZFc region
AUTHORS: Torgal, A; Sousa, M ; Carvalho, F ; Fernandes, S; Silva, J; Barros, A ;
PUBLISHED: 2001, SOURCE: HUMAN REPRODUCTION, VOLUME: 16, PAGES: 189-189
AUTHORS: Torgal, A; Sousa, M ; Carvalho, F ; Fernandes, S; Silva, J; Barros, A ;
PUBLISHED: 2001, SOURCE: HUMAN REPRODUCTION, VOLUME: 16, PAGES: 189-189
INDEXED IN: WOS
WOS2538
TITLE: Psoriasis and psoriatic arthritis: A possible modifying influence of a non-HLA gene in an HLA class I associated disease
AUTHORS: Pereira, C; Pinto, D; Pereira, O; Farinha, F; Massa, A; Cerqueira, J; Pauperio, S; Casimiro, S; Barbosa, P; Vasconcelos, C ; Costa, PM ; Cardoso, MF ; Mendonca, D ; Martins Da Silva, B ;
PUBLISHED: 2001, SOURCE: European Journal of Immunogenetics, VOLUME: 28, ISSUE: 2, PAGES: 306
AUTHORS: Pereira, C; Pinto, D; Pereira, O; Farinha, F; Massa, A; Cerqueira, J; Pauperio, S; Casimiro, S; Barbosa, P; Vasconcelos, C ; Costa, PM ; Cardoso, MF ; Mendonca, D ; Martins Da Silva, B ;
PUBLISHED: 2001, SOURCE: European Journal of Immunogenetics, VOLUME: 28, ISSUE: 2, PAGES: 306
INDEXED IN: Scopus
Scopus2539
TITLE: Recessive Ataxia With Ocular Apraxia. Review of 22 Portuguese Patients
AUTHORS: Clara Barbot; Paula Coutinho; Rui Chorão; Carla Ferreira; Barros, José ; Isabel Fineza; Karin Dias; José P Monteiro; António Guimarães; Pedro Mendonça; Maria do Céu Moreira; Jorge Sequeiros;
PUBLISHED: 2001, SOURCE: Arch Neurol - Archives of Neurology, VOLUME: 58, ISSUE: 2, PAGES: 201
AUTHORS: Clara Barbot; Paula Coutinho; Rui Chorão; Carla Ferreira; Barros, José ; Isabel Fineza; Karin Dias; José P Monteiro; António Guimarães; Pedro Mendonça; Maria do Céu Moreira; Jorge Sequeiros;
PUBLISHED: 2001, SOURCE: Arch Neurol - Archives of Neurology, VOLUME: 58, ISSUE: 2, PAGES: 201
INDEXED IN: CrossRef
CrossRef2540
TITLE: Recessive ataxia with ocular apraxia - Review of 22 Portuguese patients
AUTHORS: Barbot, C ; Coutinho, P ; Chorao, R; Ferreira, C; Barros, José ; Fineza, I; Dias, K; Monteiro, JP; Guimaraes, A; Mendonca, P; Moreira, MD; Sequeiros, J ;
PUBLISHED: 2001, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 58, ISSUE: 2, PAGES: 201-205
AUTHORS: Barbot, C ; Coutinho, P ; Chorao, R; Ferreira, C; Barros, José ; Fineza, I; Dias, K; Monteiro, JP; Guimaraes, A; Mendonca, P; Moreira, MD; Sequeiros, J ;
PUBLISHED: 2001, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 58, ISSUE: 2, PAGES: 201-205
INDEXED IN: Scopus WOS
Scopus WOS