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António Jorge dos Santos Pereira de Sequeiros
AuthID:
R-000-23K
Publications
Confirmed
To Validate
Document Source:
All
Document Type:
All Document Types
Article (139)
Abstract (65)
Letter (12)
Review (6)
Proceedings Paper (5)
Article in Press (5)
Note (2)
Correction (2)
Editorial Material (2)
Biographical-Item (2)
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Order:
Year Dsc
Year Asc
Cit. WOS Dsc
IF WOS Dsc
Cit. Scopus Dsc
IF Scopus Dsc
Title Asc
Title Dsc
Results:
10
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Confirmed Publications: 240
101
TITLE:
Report of an international survey of molecular genetic testing laboratories
AUTHORS:
Margaret M McGovern; Rob Elles; Isabella Beretta; Martin J Somerville; Gerald Hoefler;
Mauri Keinanen
; David Barton; Nancy Carson; Elisabeth Dequeker; Radim Brdicka; Alena Blazkova; Segolene Ayme;
Birgit Schnieders
; Clemens R Mueller; Vibeke Dalen; Armando Albert Martinez;
Ulf Kristoffersson
;
Meral Ozguc
; Hansjakob Mueller; Joe Boone;
Ira M Lubin;
Jorge Sequeiros
;
Domenica Taruscios
;
Bob Williamson;
Lynn Mainland;
Hiroshi Yoshikura
;
Elettra Ronchi;
...More
PUBLISHED:
2007
,
SOURCE:
COMMUNITY GENETICS,
VOLUME:
10,
ISSUE:
3
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
102
TITLE:
Stereotypies in Rett syndrome - Analysis of 83 patients with and without detected MECP2 mutations
AUTHORS:
Temudo, T
;
Oliveira, P
; Santos, M; Dias, K; Vieira, J;
Moreira, A
;
Calado, E
; Carrilho, I;
Oliveira, G
; Levy, A;
Barbot, C
; Fonseca, M; Cabral, A; Dias, A; Cabral, P;
Monteiro, J
; Borges, L; Gomes, R; Barbosa, C; Mira, G;
Eusebio, F;
Santos, M;
Sequeiros, J
;
Maciel, P
;
...More
PUBLISHED:
2007
,
SOURCE:
NEUROLOGY,
VOLUME:
68,
ISSUE:
15
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
103
TITLE:
A high throughput mutation screen of human ion channel genes in episodic neurological disorders
Full Text
AUTHORS:
Ronald Lafreniere; F Poulin; Simoneau, M; Gupta, N; Lafreniere, F; Boisvert, K; Anton, A; McLaughlan Edwards, S; Albanese, M; Charles, MK; Laurent, S; Ebers, G; Cader, Z;
Sequeiros, J
; Pereira M P Monteiro; Turecki, G; Alda, M; Grof, P; Chouinard, S; Brais, B;
Cossette, P;
Rouleau, GA;
...More
PUBLISHED:
2006
,
SOURCE:
14th World Congress on Psychiatric Genetics
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS,
VOLUME:
141B,
ISSUE:
7
INDEXED IN:
WOS
104
TITLE:
A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus
Full Text
AUTHORS:
Sandra Martins
; Francesc Calafell;
Virginia C N Wong
;
Jorge Sequeiros
;
Amorim, Antonio
;
PUBLISHED:
2006
,
SOURCE:
EUROPEAN JOURNAL OF HUMAN GENETICS,
VOLUME:
14,
ISSUE:
8
INDEXED IN:
Scopus
WOS
CrossRef
:
25
IN MY:
ORCID
105
TITLE:
Corino Andrade (1906-2005): a clinical geneticist before its own time - In memoriam
Full Text
AUTHORS:
Sequeiros, J
;
PUBLISHED:
2006
,
SOURCE:
CLINICAL GENETICS,
VOLUME:
69,
ISSUE:
2
INDEXED IN:
Scopus
WOS
106
TITLE:
Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype
Full Text
AUTHORS:
Maria do Carmo Costa
;
Andreia Teixeira Castro
; Marco Constante; Marina Magalhaes; Paula Magalhaes;
Joana Cerqueira
; Jose Vale; Vitorina Passao; Celia Barbosa; Conceicao Robalo;
Paula Coutinho
;
Barros, José
;
Manuela M Santos
;
Jorge Sequeiros
;
Patricia Maciel
;
PUBLISHED:
2006
,
SOURCE:
JOURNAL OF HUMAN GENETICS,
VOLUME:
51,
ISSUE:
8
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
107
TITLE:
Novel recurrent mutation in ATP1A2 gene in a Portuguese family with familiar hemiplegic migraine type 2 [Nova mutação recorrente no gene ATP1A2 numa familia portuguesa com enxaqueca hemiplégica familiar tipo 2]
AUTHORS:
Castro, MJ; Barros, J;
Lemos, C
; Mendes, A; Vanmolkot, K; Frants, R;
Sequeiros, J
; Monteiro, JP; van den Maagdenberg, A;
PUBLISHED:
2006
,
SOURCE:
Sinapse,
VOLUME:
6,
ISSUE:
2
INDEXED IN:
Scopus
IN MY:
ORCID
108
TITLE:
Psychological aspects of pre-symptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I. Psychological aspects of pre-symptomatic testing
Full Text
AUTHORS:
Rolim, L
; Leite, A;
Ledo, S
;
Paneque, M
;
Sequeiros, J
;
Fleming, M
;
PUBLISHED:
2006
,
SOURCE:
CLINICAL GENETICS,
VOLUME:
69,
ISSUE:
4
INDEXED IN:
Scopus
WOS
CrossRef
:
32
IN MY:
ORCID
109
TITLE:
Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10
AUTHORS:
Alonso, I
;
Jardim, LB
; Artigalas, O; Saraiva Pereira, ML; Matsuura, T;
Ashizawa, T
;
Sequeiros, J
;
Silveira, I
;
PUBLISHED:
2006
,
SOURCE:
NEUROLOGY,
VOLUME:
66,
ISSUE:
10
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
110
TITLE:
Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings
Full Text
AUTHORS:
Trott, A;
Jardim, LB
;
Ludwig, HT
; Saute, JAM;
Artigalas, O
; Kieling, C; Wanderley, HYC; Rieder, CRM; Monte, TL; Socal, M;
Alonso, I
; Ferro, A; Carvalho, T; do Ceu Moreira, M; Mendonca, P;
Ferreirinha, F
;
Silveira, I
;
Sequeiros, J
;
Giugliani, R
; Saraiva Pereira, ML;
PUBLISHED:
2006
,
SOURCE:
CLINICAL GENETICS,
VOLUME:
70,
ISSUE:
2
INDEXED IN:
Scopus
WOS
CrossRef
:
23
IN MY:
ORCID
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