11
TITLE: Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease
AUTHORS: Soares, ML ; Coelho, T; Sousa, A ; Batalov, S; Conceicao, I; Sales Luis, ML; Ritchie, MD; Williams, SM; Nievergelt, CM; Schork, NJ; Saraiva, MJ ; Buxbaum, JN;
PUBLISHED: 2005, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 14, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 82
IN MY: ORCID
12
TITLE: Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden  Full Text
AUTHORS: Soares, ML ; Coelho, T; Sousa, A ; Holmgren, GS; Saraiva, MJ ; Kastner, DL; Buxbaum, JN;
PUBLISHED: 2004, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 12, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 47
IN MY: ORCID
13
TITLE: Human transthyretin intronic open reading frames are not independently expressed in vivo or part of functional transcripts  Full Text
AUTHORS: Soares, ML ; Centola, M; Chae, JJ; Saraiva, MJ ; Kastner, DL;
PUBLISHED: 2003, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION, VOLUME: 1626, ISSUE: 1-3
INDEXED IN: Scopus WOS CrossRef: 3
IN MY: ORCID
14
TITLE: The tumor-necrosis-factor receptor-associated periodic syndrome: New mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers
AUTHORS: Aksentijevich, I; Galon, J; Soares, M ; Mansfield, E; Hull, K; Oh, HH; Goldbach Mansky, R; Dean, J; Athreya, B; Reginato, AJ; Henrickson, M; Pons Estel, B; O’Shea, JJ; Kastner, DL;
PUBLISHED: 2001, SOURCE: American Journal of Human Genetics, VOLUME: 69, ISSUE: 2
INDEXED IN: Scopus CrossRef: 258
IN MY: ORCID
15
TITLE: Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy is unlikely to be caused by triplet repeat expansions  Full Text
AUTHORS: Soares, M ; Buxbaum, J; Sirugo, G; Coelho, T; Sousa, A ; Kastner, D; Saraiva, MJ ;
PUBLISHED: 1999, SOURCE: HUMAN GENETICS, VOLUME: 104, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 25
IN MY: ORCID
Page 2 of 2. Total results: 15.