Paula Maria Vieira Jorge


AuthID: R-002-5HV

Confirmed Publications: 31



11
TITLE: Two Compound Heterozygous Variants inSNX14Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20  Full Text
AUTHORS: Maia, N; Soares, G; Silva, C; Marques, I ; Rodrigues, B; Santos, R; Melo Pires, M; de Brouwer, AP; Temudo, T; Jorge, P ;
PUBLISHED: 2020, SOURCE: FRONTIERS IN GENETICS, VOLUME: 11
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID | CIÊNCIAVITAE
12
TITLE: Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB
AUTHORS: Maia, N; Soares, AR ; Fortuna, AM; Marques, I ; Goncalves, A ; Santos, R; Pires, MM ; de Brouwer, APM; Jorge, P ;
PUBLISHED: 2020, SOURCE: CLINICAL CASE REPORTS, VOLUME: 8, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
13
TITLE: Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants – A diagnostic challenge
AUTHORS: Salgado, P; Carvalho, R; Brandão, AF; Jorge, P ; Ramos, C; Dias, D; Alonso, I; Magalhães, M;
PUBLISHED: 2019, SOURCE: eNeurologicalSci, VOLUME: 14
INDEXED IN: Scopus CrossRef: 9
IN MY: ORCID | CIÊNCIAVITAE
14
TITLE: Erratum to: Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect  Full Text
AUTHORS: Noura Bougacha-Elleuch; Nadia Charfi; Nabil Miled; Houda Bouhajja; Neila Belguith; Mouna Mnif; Paula Jorge ; Nessrine Chikhrouhou; Hammadi Ayadi; Mongia Hachicha; Mohamed Abid;
PUBLISHED: 2015, SOURCE: European Journal of Pediatrics - Eur J Pediatr, VOLUME: 174, ISSUE: 12
INDEXED IN: CrossRef
IN MY: ORCID | CIÊNCIAVITAE
15
TITLE: Erratum to: Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect(Eur J Pediatr, (2015), 174, 1491-1501, Doi:10.1007/s00431-015-2550-4)
AUTHORS: Bougacha Elleuch, N; Charfi, N; Miled, N; Bouhajja, H; Belguith, N; Mnif, M; Jorge, P ; Chikhrouhou, N; Ayadi, H; Hachicha, M; Abid, M;
PUBLISHED: 2015, SOURCE: European Journal of Pediatrics, VOLUME: 174, ISSUE: 12
INDEXED IN: Scopus
IN MY: ORCID | CIÊNCIAVITAE
16
TITLE: Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach
AUTHORS: Marques, I ; Sa, MJ; Soares, G; Mota, MD; Pinheiro, C; Aguiar, L; Amado, M; Soares, C; Calado, A; Dias, P; Sousa, AB; Fortuna, AM; Santos, R; Howell, KB; Ryan, MM; Leventer, RJ; Sachdev, R; Catford, R; Friend, K; Mattiske, TR; Shoubridge, C; Jorge, P ; ...More
PUBLISHED: 2015, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE, VOLUME: 3, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 20
IN MY: ORCID | CIÊNCIAVITAE
17
TITLE: A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis
AUTHORS: Paula Jorge ; Maria Mota-Freitas; Rosário Santos; Maria Silva; Gabriela Soares; Ana Fortuna;
PUBLISHED: 2014, SOURCE: Journal of Clinical Medicine, VOLUME: 3, ISSUE: 3
INDEXED IN: CrossRef: 3
IN MY: ORCID | CIÊNCIAVITAE
18
TITLE: Development and validation of a multiplex-PCR assay for X-linked intellectual disability  Full Text
AUTHORS: Paula Jorge ; Barbara Oliveira; Isabel Marques; Rosario Santos;
PUBLISHED: 2013, SOURCE: BMC MEDICAL GENETICS, VOLUME: 14, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
19
TITLE: FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes  Full Text
AUTHORS: Seixas, AI; Vale, J; Jorge, P ; Marques, I; Santos, R; Alonso, I ; Fortuna, AM; Pinto Basto, J; Coutinho, P ; Margolis, RL; Sequeiros, J ; Silveira, I ;
PUBLISHED: 2011, SOURCE: BEHAVIORAL AND BRAIN FUNCTIONS, VOLUME: 7, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID | CIÊNCIAVITAE
20
TITLE: LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients  Full Text
AUTHORS: Oliveira, J; Santos, R; Soares Silva, I ; Jorge, P ; Vieira, E; Oliveira, ME; Moreira, A; Coelho, T; Ferreira, JC; Fonseca, MJ; Barbosa, C; Prats, J; Ariztegui, ML; Martins, ML; Moreno, T; Heinimann, K; Barbot, C ; Pascual Pascual, SI; Cabral, A; Fineza, I; Santos, M; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ; ...More
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 74, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 41
IN MY: ORCID | CIÊNCIAVITAE
Page 2 of 4. Total results: 31.

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