Search Results - "TAVARES, Purificaçao"

Genomic imbalances defining novel intellectual disability associated loci by Lopes, Fátima, Torres, Fátima, Soares, Gabriela, Barbosa, Mafalda, Silva, João, Duque, Frederico, Rocha, Miguel, Sá, Joaquim, Oliveira, Guiomar, Sá, Maria João, Temudo, Teresa, Sousa, Susana, Marques, Carla, Lopes, Sofia, Gomes, Catarina, Barros, Gisela, Jorge, Arminda, Rocha, Felisbela, Martins, Cecília, Mesquita, Sandra, Loureiro, Susana, Cardoso, Elisa Maria, Cálix, Maria José, Dias, Andreia, Martins, Cristina, Mota, Céu R, Antunes, Diana, Dupont, Juliette, Figueiredo, Sara, Figueiroa, Sónia, Gama-de-Sousa, Susana, Cruz, Sara, Sampaio, Adriana, Eijk, Paul, Weiss, Marjan M, Ylstra, Bauke, Rendeiro, Paula, Tavares, Purificação, Reis-Lima, Margarida, Pinto-Basto, Jorge, Fortuna, Ana Maria, Maciel, Patrícia

“…High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number…”
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BCR-ABL V280G Mutation, Potential Role in Imatinib Resistance: First Case Report by Azevedo, Ana P, Reichert, Alice, Afonso, Celina, Alberca, Maria D, Tavares, Purificação, Lima, Fernando

“…Introduction: The identification of BCR-ABL expression as the defining leukemogenic event in chronic myeloid leukemia (CML) and the introduction of BCR-ABL…”
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Development of imatinib and dasatinib resistance: dynamics of expression of drug transporters ABCB1, ABCC1, ABCG2, MVP, and SLC22A1 by Gromicho, Marta, Dinis, Joana, Magalhães, Marta, Fernandes, Alexandra R., Tavares, Purificação, Laires, António, Rueff, José, Rodrigues, António Sebastião

“…About 20% of patients with chronic myeloid leukemia (CML) do not respond to treatment with imatinib either initially or because of acquired resistance. To…”
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DOK7 myasthenic syndrome with subacute adult onset during pregnancy and partial response to fluoxetine by Santos, Mariana, Cruz, Simão, Peres, João, Santos, Luís, Tavares, Purificação, Basto, Jorge Pinto, Salgado, Vasco, Valverde, Ana Herrero

“…•DOK7 congenital myasthenic syndrome (CMS) presenting in a 39-year old woman.•The disease presented during pregnancy and was first diagnosed as myasthenia…”
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Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome by Marshall, Jan D, Hinman, Elizabeth G, Collin, Gayle B, Beck, Sebastian, Cerqueira, Rita, Maffei, Pietro, Milan, Gabriella, Zhang, Weidong, Wilson, David I, Hearn, Tom, Tavares, Purificação, Vettor, Roberto, Veronese, Caterina, Martin, Mitchell, So, W. Venus, Nishina, Patsy M, Naggert, Jürgen K

“…Alström syndrome is a monogenic recessive disorder featuring an array of clinical manifestations, with systemic fibrosis and multiple organ involvement,…”
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The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review by Lopes, Fátima, Torres, Fátima, Soares, Gabriela, van Karnebeek, Clara D, Martins, Cecília, Antunes, Diana, Silva, João, Muttucomaroe, Lauren, Botelho, Luís Filipe, Sousa, Susana, Rendeiro, Paula, Tavares, Purificação, Van Esch, Hilde, Rajcan-Separovic, Evica, Maciel, Patrícia

“…Microdeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and…”
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Cat eye syndrome and growth hormone deficiency with pituitary anomalies: A case report and review of the literature by Melo, Cláudia, Gama-de-Sousa, Susana, Almeida, Filipa, Rendeiro, Paula, Tavares, Purificação, Cardoso, Helena, Carvalho, Sónia

“…Cat eye syndrome is a rare congenital disease characterized by the existence of a supernumerary chromosome derived from chromosome 22, with a variable…”
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Instability of mRNA expression signatures of drug transporters in chronic myeloid leukemia patients resistant to imatinib by GROMICHO, MARTA, MAGALHÃES, MARTA, TORRES, FÁTIMA, DINIS, JOANA, FERNANDES, ALEXANDRA R, RENDEIRO, PAULA, TAVARES, PURIFICAÇÃO, LAIRES, ANTÓNIO, RUEFF, JOSÉ, RODRIGUES, ANTÓNIO SEBASTIÃO

“…Despite the success of imatinib mesylate (IM) in the treatment of chronic myeloid leukemia (CML), approximately 30% of patients are resistant to therapy,…”
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Different manifestations of class II division 2 incisor retroclination and their association with dental anomalies by Pereira, Pedro Mariano, Ferreira, Afonso Pinhão, Tavares, Purificação, Braga, Ana Cristina

“…Objective: To investigate whether there is an association between dental developmental anomalies (DDAs) and different manifestations of class II division 2…”
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The contribution of 7q33 copy number variations for intellectual disability by Lopes, Fátima Daniela Teixeira, Torres, Fátima, Lynch, Sally Ann, Jorge, Arminda, Sousa, Susana, Silva, João, Rendeiro, Paula, Tavares, Purificação, Fortuna, Ana Maria, Maciel, P.

“…Copy number variations (CNVs) at the 7q33 cytoband are very rarely described in the literature, and almost all of the cases comprise large deletions affecting…”
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Different manifestations of Class II Division 2 incisor retroclination: A morphologic study by Mariano Pereira, Pedro, Pinhão Ferreira, Afonso, Tavares, Purificação, Braga, Ana Cristina

“…Introduction The aims of this study were to investigate whether there is a different transverse morphologic pattern of dental arches among patients with…”
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Developmental absence of maxillary lateral incisors in the Portuguese population by Pinho, Teresa, Tavares, Purificação, Maciel, Patrícia, Pollmann, Cristina

“…The aim of this study was to evaluate the prevalence and clinical manifestation of developmental absence of maxillary permanent lateral incisors in the…”
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Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation by MORAIS, Paulo, MOTA, Alberto, BAUDRIER, Teresa, LOPES, José Manuel, CERQUEIRA, Rita, TAVARES, Purificaçao, AZEVEDO, Filomena

“…We report the case of a 12-year-old girl presenting at birth with erythroderma, erosions and blisters scattered over the integument. By the age of 3 she…”
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DNA damage response in imatinib resistant chronic myeloid leukemia K562 cells by Dinis, Joana, Silva, Vânia, Gromicho, Marta, Martins, Célia, Laires, António, Tavares, Purificação, Rendeiro, Paula, Torres, Fátima, Rueff, José, Rodrigues, António

“…Abstract Resistance to imatinib in patients with chronic myeloid leukemia can lead to advanced disease and blast crisis. Conventional chemotherapy with DNA…”
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Sjögren-Larsson syndrome due to a novel mutation in the FALDH gene by BOTELHO GOMES, Joana Maria, VIEIRA, Ana Paula, NAVARRO, Jorge, MARE, Ricardo, TAVARES, Purificação, BRITO, Celeste

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Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene by MORAIS, Paulo, MOTA, Alberto, BAUDRIER, Teresa, TRIGO, Filipe, OLIVEIRA, Joao Paulo, CERQUEIRA, Rita, PALMEIRO, Aida, TAVARES, Purificação, AZEVEDO, Filomena

“…Erythropoietic protoporphyria (EPP) is a rare inherited disorder of heme biosynthesis mostly caused by a deficient activity of the enzyme ferrochelatase…”
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Absent abdominal muscles, nephro-urologic abnormalities, and severe neurologic damage in an infant with 3 chromosomal duplications: A novel syndrome? by Akl, Kamal F., Albaramki, Jumana H., Ghani, Eman A., I. Al Qaisi, Mohammad, Abujaber, Nadeen, Tavares, Purificação

“…Absent abdominal muscles, cryptorchidism, and hydroureteronephrosis are known to occur in the prune belly syndrome (PBS). We present a male with absent…”
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Genetic susceptibility to maxillary sinus pathology development in the presence of an odontogenic cyst by Pereira, Inês, Vaz, Paula, Almeida, Ricardo F., Tavares, Purificação, Borsatto, Cristina, Felino, António

“…Clinically it appears that some patients with etiological factors (dental pathology in the maxillary sinus) exhibit sinus disease and others do not. The aim of…”
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An e6a2 BCR-ABL fusion transcript in a CML patient having an iliac chloroma at initial presentation by Torres, Fátima, Ivanova-Dragoeva, Anna, Pereira, Mónica, Veiga, Joana, Rodrigues, António S., Sousa, Aida Botelho, Tavares, Purificação, Fernandes, Alexandra R.

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Kallmann syndrome in a female adolescent: a new mutation in the FGFR1 gene by Novo, Ana, Guerra, Isabel Couto, Rocha, Felisbela, Gama-de-Sousa, Susana, Borges, Teresa, Cerqueira, Rita, Tavares, Purificação, Fonseca, Paula

“…The Kallmann syndrome is characterised by the association of hypogonadotropic hypogonadism and hypo/anosmia. It represents a phenotypically and genotypically…”
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