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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 (137)
Abstract (65)
Letter (12)
Review (6)
Proceedings Paper (5)
Article in Press (4)
Note (2)
Correction (2)
Editorial Material (2)
Biographical-Item (1)
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Order:
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Cit. WOS Dsc
IF WOS Dsc
Cit. Scopus Dsc
IF Scopus Dsc
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Results:
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Confirmed Publications: 236
111
TITLE:
The need for interaction between assisted reproduction technology and genetics: Recommendations of the European Societies of Human Genetics and Human Reproduction and Embryology
AUTHORS:
Ayme, S; Kaariainen, H; Coviello, D; Anastasiadou, V; Braga, S; Cornel, M; Evers Kiebooms, G; Kostolanyi, G;
Sequeiros, J
; Tranebjaerg, L; Geraedts, JPM; Gianaroli, L; Harper, J; Lundin, K; Sermon, K;
PUBLISHED:
2006
,
SOURCE:
Human Reproduction,
VOLUME:
21,
ISSUE:
8
INDEXED IN:
Scopus
CrossRef
:
3
IN MY:
ORCID
112
TITLE:
The perceived advantages and disadvantages of presymptomatic testing for Machado-Joseph disease: Development of a new self-response inventory
Full Text
AUTHORS:
Rolim, L; Zagalo Cardoso, JA;
Constança Paul
;
Sequeiros, J
;
Fleming, M
;
PUBLISHED:
2006
,
SOURCE:
Journal of Genetic Counseling,
VOLUME:
15,
ISSUE:
5
INDEXED IN:
Scopus
CrossRef
:
2
IN MY:
ORCID
113
TITLE:
A novel H101Q mutation causes PKC gamma loss in spinocerebellar ataxia type 14
Full Text
AUTHORS:
Alonso, I
;
Costa, C
;
Gomes, A
; Ferro, A;
Seixas, AI
;
Silva, S
;
Cruz, VT
;
Coutinho, P
;
Sequeiros, J
;
Silveira, I
;
PUBLISHED:
2005
,
SOURCE:
JOURNAL OF HUMAN GENETICS,
VOLUME:
50,
ISSUE:
10
INDEXED IN:
Scopus
WOS
CrossRef
:
30
IN MY:
ORCID
114
TITLE:
Haplotype diversity and somatic instability in normal and expanded SCA8 alleles
Full Text
AUTHORS:
Martins, S
;
Seixas, AI
; Magalhaes, P;
Coutinho, P
;
Sequeiros, J
;
Silveira, I
;
PUBLISHED:
2005
,
SOURCE:
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS,
VOLUME:
139B,
ISSUE:
1
INDEXED IN:
Scopus
WOS
CrossRef
:
8
IN MY:
ORCID
115
TITLE:
Huntington's disease in Portugal: Seven year experience of the reference laboratory
AUTHORS:
Magalhaes, P; Costado, MC; Ferreirinha, F;
Guimaraes, L
; Januario, C; Gaspar, I; Loureiro, L; Vale, J;
Garrett, C
; Regateiro, F; Magalhaes, M; Sousa, A; Maciel, P;
Sequeiros, J
;
PUBLISHED:
2005
,
SOURCE:
World Congress on Huntingtons Disease
in
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY,
VOLUME:
76
INDEXED IN:
WOS
116
TITLE:
Neuroferritinopathy: Missense mutation in FTL causing early-onset bilateral pallidal involvement
AUTHORS:
Maciel, P
;
Cruz, VT
; Constante, M;
Iniesta, I
;
Costa, MC
; Gallati, S;
Sousa, N
;
Sequeiros, J
;
Coutinho, P
; Santos, MM;
PUBLISHED:
2005
,
SOURCE:
NEUROLOGY,
VOLUME:
65,
ISSUE:
4
INDEXED IN:
Scopus
WOS
CrossRef
:
80
IN MY:
ORCID
117
TITLE:
Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea
Full Text
AUTHORS:
Costa, MD;
Costa, C
;
Silva, AP
; Evangelista, P;
Santos, L
;
Ferro, A
;
Sequeiros, J
;
Maciel, P
;
PUBLISHED:
2005
,
SOURCE:
NEUROGENETICS,
VOLUME:
6,
ISSUE:
4
INDEXED IN:
Scopus
WOS
CrossRef
:
36
IN MY:
ORCID
118
TITLE:
Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal
AUTHORS:
Lima, M
;
Costa, MC
;
Montiel, R
; Ferro, A; Santos, C; Silva, C; Bettencourt, C;
Sousa, A
;
Sequeiros, J
;
Coutinho, P
;
Maciel, P
;
PUBLISHED:
2005
,
SOURCE:
HUMAN HEREDITY,
VOLUME:
60,
ISSUE:
3
INDEXED IN:
Scopus
WOS
119
TITLE:
Size distribution, dynamics, and haplotype studies of the (CAG)n at the HD locus in 140 affected families and the general Portuguese population
AUTHORS:
Costado, MC; Magalhaes, P;
Guimaraes, L
; Maciel, P; Sousa, A;
Sequeiros, J
;
PUBLISHED:
2005
,
SOURCE:
World Congress on Huntingtons Disease
in
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY,
VOLUME:
76
INDEXED IN:
WOS
120
TITLE:
A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha(1A)-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine. Letter to the Editor
Full Text
AUTHORS:
Alonso, I
;
Barros, José
; Tuna, A;
Seixas, A
;
Coutinho, P
;
Sequeiros, J
;
Silveira, I
;
PUBLISHED:
2004
,
SOURCE:
CLINICAL GENETICS,
VOLUME:
65,
ISSUE:
1
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
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