Paula Maria Vieira Jorge


AuthID: R-002-5HV

Confirmed Publications: 31



21
TITLE: The ABCA4 2588G > Stargardt mutation: Single origin and increasing frequency from South-West to North-East Europe
AUTHORS: Alessandra Maugeri; Kris Flothmann; Nadine Hemmrich; Sofie Ingvast; Paula Jorge ; Eva Paloma; Reshma Patel; Jean Michael Rozet; Jaana Tammur; Francesco Testa; Susana Balcells; Alan C Bird; Han G Brunner; Carel B Hoyng; Andres Metspalu; Francesca Simonelli; Rando Allikmets; Shomi S Bhattacharya; Michele D’urso; Roser Gonzalez Duarte; Josseline Kaplan; Gerard J Te Meerman; Rosàrio Santos; Marianne Schwartz; Guy Van Camp; Claes Wadelius; Bernhard H F Weber; Frans P M Cremers; ...More
PUBLISHED: 2002, SOURCE: European Journal of Human Genetics, VOLUME: 10, ISSUE: 3
INDEXED IN: Scopus
IN MY: ORCID | CIÊNCIAVITAE
22
TITLE: The ABCA4 2588G > C Stargardt mutation: Single origin and increasing frequency from South-West to North-East Europe  Full Text
AUTHORS: Maugeri, A; Flothmann, K; Hemmrich, N; Ingvast, S; Jorge, P ; Paloma, E; Patel, R; Rozet, JM; Tammur, J; Testa, F; Balcells, S; Bird, AC; Brunner, HG; Hoyng, CB; Metspalu, A; Simonelli, F; Allikmets, R; Bhattacharya, SS; D'Urso, M; Gonzalez Duarte, R; Kaplan, J; Meerman, GJT; Santoss, R; Schwartz, M; Van Camp, G; Wadelius, C; Weber, BHF; Cremers, FPM; ...More
PUBLISHED: 2002, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 10, ISSUE: 3
INDEXED IN: Scopus WOS
IN MY: ORCID | CIÊNCIAVITAE
23
TITLE: The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe
AUTHORS: Alessandra Maugeri; Kris Flothmann; Nadine Hemmrich; Sofie Ingvast; Paula Jorge ; Eva Paloma; Reshma Patel; Jean-Michel Rozet; Jaana Tammur; Francesco Testa; Susana Balcells; Alan C Bird; Han G Brunner; Carel B Hoyng; Andres Metspalu; Francesca Simonelli; Rando Allikmets; Shomi S Bhattacharya; Michele D'Urso; Roser Gonzàlez-Duarte; Josseline Kaplan; Gerard J te Meerman; Rosário Santos; Marianne Schwartz; Guy Van Camp; Claes Wadelius; Bernhard H F Weber; Frans P M Cremers; ...More
PUBLISHED: 2002, SOURCE: European Journal of Human Genetics, VOLUME: 10, ISSUE: 3
INDEXED IN: CrossRef: 34
IN MY: ORCID | CIÊNCIAVITAE
24
TITLE: Noval mutation (Y184C) in exon 4 of the beta-sarcoglycan gene identified in a Portuguese patient. Mutations in brief no. 177. Online.  Full Text
AUTHORS: dos Santos, MR; Jorge, P ; Ribeiro, EM; Pires, MM ; Guimaraes, A;
PUBLISHED: 1998, SOURCE: Human mutation, VOLUME: 12, ISSUE: 3
INDEXED IN: Scopus
IN MY: ORCID | CIÊNCIAVITAE
25
TITLE: Mutational analysis of an X-linked adrenoleukodystrophy (ALD) patient with detectable ALD protein
AUTHORS: Jorge, P ; Brites, P; Nogueira, A; Aubourg, P;
PUBLISHED: 1996, SOURCE: International Symposium on Peroxisomes - Biology and Role in Toxicology and Disease in PEROXISOMES: BIOLOGY AND ROLE IN TOXICOLOGY AND DISEASE, VOLUME: 804, ISSUE: 1 Peroxisomes
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
26
TITLE: Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts
AUTHORS: Cartier, N; Lopez, J; Moullier, P; Rocchiccioli, F; Rolland, MO; Jorge, P ; Mosser, J; Mandel, JL; Bougneres, PF; Danos, O; Aubourg, P;
PUBLISHED: 1995, SOURCE: Proceedings of the National Academy of Sciences of the United States of America, VOLUME: 92, ISSUE: 5
INDEXED IN: Scopus CrossRef
IN MY: ORCID | CIÊNCIAVITAE
27
TITLE: X-LINKED ADRENOLEUKODYSTROPHY IN PATIENTS WITH IDIOPATHIC ADDISON-DISEASE
AUTHORS: JORGE, P ; QUELHAS, D; OLIVEIRA, P ; PINTO, R; NOGUEIRA, A;
PUBLISHED: 1994, SOURCE: EUROPEAN JOURNAL OF PEDIATRICS, VOLUME: 153, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
28
TITLE: CHARACTERIZATION OF X-LINKED ADRENOLEUKODYSTROPHY IN DIFFERENT BIOLOGICAL SPECIMENS FROM 10 PORTUGUESE FAMILIES
AUTHORS: JORGE, P ; QUELHAS, D; NOGUEIRA, A;
PUBLISHED: 1993, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 16, ISSUE: 1
INDEXED IN: Scopus WOS
29
TITLE: Characterization of X-linked adrenoleukodystrophy in different biological specimens from ten Portuguese families
AUTHORS: Jorge, P ; Quelhas, D; Nogueira, A;
PUBLISHED: 1993, SOURCE: Journal of Inherited Metabolic Disease - J Inherit Metab Dis, VOLUME: 16, ISSUE: 1
INDEXED IN: CrossRef
IN MY: ORCID | CIÊNCIAVITAE
30
TITLE: X-linked adrenoleukodystrophy and haemophilia A in the same kindred
AUTHORS: Nogueira, A; Jorge, P ; Dores, J; Cunha, M; Sousa, S; Pereira, I; Campos, M; Justica, B; Quelhas, D; S� S Miranda;
PUBLISHED: 1993, SOURCE: Journal of Inherited Metabolic Disease - J Inherit Metab Dis, VOLUME: 16, ISSUE: 3
INDEXED IN: CrossRef
IN MY: ORCID | CIÊNCIAVITAE
Page 3 of 4. Total results: 31.

footer slogan

Useful Links

Get Help

© 2025 CRACS & Inesc TEC - All Rights Reserved Privacy Policy | Terms of Service