Isabel Maria Medeiros Marques


AuthID: R-00H-H5C

Confirmed Publications: 7



1
2
TITLE: Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions
AUTHORS: Silva, C; Maia, N; Santos, F; Rodrigues, B; Marques, I ; Santos, R; Jorge, P;
PUBLISHED: 2021, SOURCE: SCIENTIFIC REPORTS, VOLUME: 11, ISSUE: 1
INDEXED IN: WOS CrossRef: 1
IN MY: ORCID
3
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
4
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
5
TITLE: High performing AmplideX PCR/CE for Myotonic Dystrophy type 1 is concordant with a combination of PCR and Southern Blot analysis  Full Text
AUTHORS: Isabel Marques ; Nuno Maia ; Rosario Santos, MR ;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
6
TITLE: Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome
AUTHORS: Maia, N; Sa, MJN ; Tkachenko, N; Soares, G; Marques, I ; Rodrigues, B; Fortuna, AM; Santos, R; de Brouwer, APM; Jorge, P;
PUBLISHED: 2018, SOURCE: MOLECULAR SYNDROMOLOGY, VOLUME: 9, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 3
IN MY: ORCID
7
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

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