Eunice Maria Ruas de Campos Matoso


AuthID: R-002-RP8

Publications Awaiting Confirmation

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TITLE: RING CHROMOSOME 20 SYNDROME: TWO CASES REPORT WITH REFRACTORY FRONTAL LOBE SEIZURES AND LEARNING DISABILITIES  Full Text
AUTHORS: Matoso, Eunice; Estevinho, Alexandra; Serrano, Margarida; Laco, Mario N.; Bento, Conceicao; Saraiva, Jorge M.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
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TITLE: Ring chromosome 20 syndrome: a case report with refractory frontal lobe seizures and learning disabilities  Full Text
AUTHORS: Matoso, Eunice; Estevinho, Alexandra; Paiva, Patricia; Laco, Mario N.; Gomes, Ines; Bento, Conceicao; Carreira, Isabel; Saraiva, Jorge M.;
PUBLISHED: 2023, SOURCE: 55th European-Society-of-Human-Genetics (ESHG) Conference in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 31
INDEXED IN: WOS
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TITLE: Variable expressivity of 22q11.2 microduplications: an investigation of 13 cases toward a phenotype-genotype correlation
AUTHORS: Matoso, Eunice; Estevinho, Alexandra; Ferreira, Susana I.; Pires, Luis M.; Melo, Joana B.; Ramos, Fabiana; Ramos, Lina; Saraiva, Jorge M.; Carreira, Isabel M.;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
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TITLE: Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases
AUTHORS: Uira Souto Melo; Robert Schoepflin; Rocio Acuna Hidalgo; Martin Atta Mensah; Bjoern Fischer Zirnsak; Manuel Holtgrewe; Marius Konstantin Klever; Seval Tuerkmen; Verena Heinrich; Ilina Datkhaeva Pluym; Eunice Matoso; Sergio Bernardo de Sousa; Pedro Louro ; Wiebke Huelsemann; Monika Cohen; Andreas Dufke; Anna Latos Bielenska; Martin Vingron; Vera Kalscheuer; Fabiola Quintero Rivera; Malte Spielmann; Stefan Mundlos; ...More
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 106, ISSUE: 6
INDEXED IN: Scopus WOS
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TITLE: Prevalence of X-aneuploidies and X-structural abnormalities in a Portuguese population with primary amenorrhea or premature ovarian insufficiency  Full Text
AUTHORS: Alexandra Estevinho; Ana R Neves; Jorge M Saraiva; Luis M Pires; Joana B Melo; Isabel M Carreira; Eunice Matoso;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
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TITLE: Interstitial triplication 20p11.22p11.21, in a girl with development delay and vertebral anomalies, disclosed by array-CGH  Full Text
AUTHORS: Eunice Matoso; Lina Ramos; Jorge Saraiva; Alexandra Estevinho; Susana I Ferreira; Joana B Melo; Isabel M Carreira;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
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TITLE: Duplication 17q24.3q25.1, inserted on 17p13, encompassing SOX9: the impact on the phenotype
AUTHORS: Matoso, E; Louro, P; Estevinho, A; Ferreira, SI; Paiva, P; Melo, JB; Mirante, A; Melo, US; Mundlos, S; Sousa, SB; Ramos, L; Saraiva, J; Carreira, IM;
PUBLISHED: 2019, SOURCE: 52nd Conference of the European-Society-of-Human-Genetics (ESHG) in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 27
INDEXED IN: WOS
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