ProfileOfResearchers

Identified 214

141

TITLE: Gonadal mosaicism: its contribution for de novo events
AUTHORS: Carreira, IM; Pinto, MC; Jardim, A; Simoes, L; Paiva, P; Franco, S; Coelho, F; Oliveira, G; Melo, JB;
PUBLISHED: 2018, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 26

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142

TITLE: <i>TBL1XR1</i> <i>de novo</i> deletion at 3(q26.32) in a boy with developmental delay, growth retardation and dysmorphisms
AUTHORS: Melo, JB; Ferreira, SI; Val; Maia, S; Carreira, IM;
PUBLISHED: 2018, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 26

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143

TITLE: MLPA analysis in a cohort of patients with autism Full Text
AUTHORS: Peixoto, S; Melo, JB; Ferrao, J; Pires, LM; Lavoura, N; Pinto, M; Oliveira, G; Carreira, IM;
PUBLISHED: 2017, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 10, ISSUE: 1

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144

TITLE: Genetic and epigenetic characterization of the tumors in a patient with a tongue primary tumor, a recurrence and a pharyngoesophageal second primary tumor Full Text
AUTHORS: Ribeiro, IP; Marques, F; Barroso, L; Migueis, J; Caramelo, F; Santos, A; Juliao, MJ; Melo, JB; Carreira, IM;
PUBLISHED: 2017, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 10, ISSUE: 1

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145

TITLE: Genetic and epigenetic characterization of the tumors in a patient with a tongue primary tumor, a recurrence and a pharyngoesophageal second primary tumor
AUTHORS: Ribeiro, IP; Marques, F; Barroso, L; Miguéis, J; Caramelo, F; Santos, A; Julião, MJ; Melo, JB; Carreira, IM;
PUBLISHED: 2017, SOURCE: Molecular Cytogenetics, VOLUME: 10, ISSUE: 1

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146

TITLE: Phelan McDermid (22q13.3 microdeletion) syndrome a case report Full Text
AUTHORS: Cristina Candeias; Manuela Mota Freitas; Natalia Oliva Teles; Joana Melo; Isabel Carreira; Teresa Saraiva; Ana Fortuna; Maria Joao Sa; Maria Da Luz E Fonseca E Silva;
PUBLISHED: 2017, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 10

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147

TITLE: From the establishment of primary culture cell lines of oral squamous cell carcinoma to the identification of complex rearrangements Full Text
AUTHORS: Isabel M Carreira; Ilda P Ribeiro; Alexandra Mascarenhas; Susana I Ferreira; Joana Rodrigues; Vanessa Marques; Claudia Pais; Francisco Marques; Joana B Melo;
PUBLISHED: 2017, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 10

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148

TITLE: Prenatal Diagnosis of two rare inv(22) different at molecular level Full Text
AUTHORS: Melo, JB; Pinto, MC; Jardim, A; Lavoura, N; Pires, LM; Paiva, P; Ramos, F; Simoes, L; Carreira, IM;
PUBLISHED: 2017, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 10

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149