Biomarkers of carcinogenesis and tumour growth in patients with cutaneous melanoma and obstructive sleep apnoea
Santamaria-Martos, Fernando, Benítez, Ivan, Girón, Cristina, Barbé, Ferran, Martínez-García, Miguel-Angel, Hernández, Luis, Montserrat, Josep M, Nagore, Eduardo, Martorell, Antonio, Campos-Rodriguez, Francisco, Corral, Jaime, Cabriada, Valentin, Abad, Jorge, Mediano, Olga, Troncoso, Maria F, Cano-Pumarega, Irene, Fortuna Gutierrez, Ana Maria, Diaz-Cambriles, Trinidad, Somoza-Gonzalez, Maria, Almendros, Isaac, Farre, Ramon, Gozal, David, Sánchez-de-la-Torre, Manuel
Published in The European respiratory journal (01.03.2018)
Published in The European respiratory journal (01.03.2018)
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Journal Article
A Randomized Controlled Trial of Continuous Positive Airway Pressure on Glucose Tolerance in Obese Patients with Obstructive Sleep Apnea
Salord, Neus, Fortuna, Ana Maria, Monasterio, Carmen, Gasa, Mercè, Pérez, Antonio, Bonsignore, Maria R, Vilarrasa, Núria, Montserrat, Josep Maria, Mayos, Mercedes
Published in Sleep (New York, N.Y.) (01.01.2016)
Published in Sleep (New York, N.Y.) (01.01.2016)
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Journal Article
An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy
Pereira, Ângela, Tkachenko, Nataliya, Fortuna, Ana Maria, Alonso, Isabel, Cardoso, Márcio, Da Silva, Jorge Diogo
Published in Neurological sciences (01.09.2023)
Published in Neurological sciences (01.09.2023)
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Journal Article
Diagnostic accuracy and the first genotype–phenotype correlation in glycogen storage disease type V
Da Silva, Jorge Diogo, Pereira, Ângela, Soares, Ana Rita, Guimas, Arlindo, Rocha, Sara, Cardoso, Márcio, Garrido, Cristina, Soares, Célia Azevedo, Nunes, Isabel Serra, tuna, Ana Maria, Quelhas, Dulce, Figueiroa, Sónia, Ribeiro, Rosa, Santos, Manuela, Martins, Esmeralda, Tkachenko, Nataliya
Published in Pediatric research (01.07.2024)
Published in Pediatric research (01.07.2024)
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Journal Article
A Novel Domain‐Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone
Fijalkowski, Igor, Geets, Ellen, Steenackers, Ellen, Van Hoof, Viviane, Ramos, Feliciano J, Mortier, Geert, Fortuna, Ana Maria, Van Hul, Wim, Boudin, Eveline
Published in Journal of bone and mineral research (01.04.2016)
Published in Journal of bone and mineral research (01.04.2016)
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Journal Article
Predicting factors of neurodevelopmental performance in children with phenylketonuria
Azevedo Soares, Célia, Ferreira Almeida, Manuela, Soares, Gabriela, Tkachenko, Natália, Fortuna, Ana Maria, Carmona, Carla
Published in American journal of medical genetics. Part A (01.06.2023)
Published in American journal of medical genetics. Part A (01.06.2023)
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Journal Article
Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience
Quelhas, Dulce, Martins, Esmeralda, Azevedo, Luísa, Bandeira, Anabela, Diogo, Luísa, Garcia, Paula, Sequeira, Sílvia, Ferreira, Ana Cristina, Teles, Elisa Leão, Rodrigues, Esmeralda, Fortuna, Ana Maria, Mendonça, Carla, Fernandes, Helena Cabral, Medeira, Ana, Gaspar, Ana, Janeiro, Patrícia, Oliveira, Anabela, Laranjeira, Francisco, Ribeiro, Isaura, Souche, Erica, Race, Valérie, Keldermans, Liesbeth, Matthijs, Gert, Jaeken, Jaak
Published in The Journal of pediatrics (01.04.2021)
Published in The Journal of pediatrics (01.04.2021)
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Journal Article
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
Koolen, David A, Pfundt, Rolph, Linda, Katrin, Beunders, Gea, Veenstra-Knol, Hermine E, Conta, Jessie H, Fortuna, Ana Maria, Gillessen-Kaesbach, Gabriele, Dugan, Sarah, Halbach, Sara, Abdul-Rahman, Omar A, Winesett, Heather M, Chung, Wendy K, Dalton, Marguerite, Dimova, Petia S, Mattina, Teresa, Prescott, Katrina, Zhang, Hui Z, Saal, Howard M, Hehir-Kwa, Jayne Y, Willemsen, Marjolein H, Ockeloen, Charlotte W, Jongmans, Marjolijn C, Van der Aa, Nathalie, Failla, Pinella, Barone, Concetta, Avola, Emanuela, Brooks, Alice S, Kant, Sarina G, Gerkes, Erica H, Firth, Helen V, Õunap, Katrin, Bird, Lynne M, Masser-Frye, Diane, Friedman, Jennifer R, Sokunbi, Modupe A, Dixit, Abhijit, Splitt, Miranda, Kukolich, Mary K, McGaughran, Julie, Coe, Bradley P, Flórez, Jesús, Nadif Kasri, Nael, Brunner, Han G, Thompson, Elizabeth M, Gecz, Jozef, Romano, Corrado, Eichler, Evan E, de Vries, Bert B A
Published in European journal of human genetics : EJHG (01.05.2016)
Published in European journal of human genetics : EJHG (01.05.2016)
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Journal Article
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder
Maia, Nuno, Potelle, Sven, Yildirim, Hamide, Duvet, Sandrine, Akula, Shyam K., Schulz, Celine, Wiame, Elsa, Gheldof, Alexander, O’Kane, Katherine, Lai, Abbe, Sermon, Karen, Proisy, Maïa, Loget, Philippe, Attié-Bitach, Tania, Quelin, Chloé, Fortuna, Ana Maria, Soares, Ana Rita, de Brouwer, Arjan P.M., Van Schaftingen, Emile, Nassogne, Marie-Cécile, Walsh, Christopher A., Stouffs, Katrien, Jorge, Paula, Jansen, Anna C., Foulquier, François
Published in American journal of human genetics (03.02.2022)
Published in American journal of human genetics (03.02.2022)
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Journal Article
Co-occurrence of neurofibromatosis type 1, caused by Alu insertion, and 16p13.11 microduplication
Quental, Rita, Pinho, Diana, Tkachenko, Natália, Gonzaga, Diana, Mota, Maria do Céu, Garrido, Cristina, Carmona, Carla, Quental, Sofia, Fortuna, Ana Maria, Azevedo Soares, Célia
Published in Egyptian Journal of Medical Human Genetics (03.09.2024)
Published in Egyptian Journal of Medical Human Genetics (03.09.2024)
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Journal Article
A randomized controlled trial: branched‐chain amino acid levels and glucose metabolism in patients with obesity and sleep apnea
Barceló, Antonia, Morell‐Garcia, Daniel, Salord, Neus, Esquinas, Cristina, Pérez, Gerardo, Pérez, Antonio, Monasterio, Carmen, Gasa, Merce, Fortuna, Ana Maria, Montserrat, Josep Maria, Mayos, Mercedes
Published in Journal of sleep research (01.12.2017)
Published in Journal of sleep research (01.12.2017)
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Journal Article
Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication
Da Silva, Jorge Diogo, Gonzaga, Diana, Barreta, Ana, Correia, Hildeberto, Fortuna, Ana Maria, Soares, Ana Rita, Tkachenko, Nataliya
Published in Biomedicines (30.11.2022)
Published in Biomedicines (30.11.2022)
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Journal Article
Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center
Soares, Célia Azevedo, Tkachenko, Natália, Vale-Fernandes, Emídio, Barreiro, Márcia, Abreu, Maria, Reis, Cláudia Falcão, Soares, Gabriela, Fortuna, Ana Maria, Soares, Ana Rita
Published in JBRA assisted reproduction (2023)
Published in JBRA assisted reproduction (2023)
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Journal Article
A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1)
Da Silva, Jorge Diogo, Oliva-Teles, Natália, Tkachenko, Nataliya, Fino, Joana, Marques, Mariana, Fortuna, Ana Maria, David, Dezso
Published in Biomedicines (01.01.2023)
Published in Biomedicines (01.01.2023)
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Journal Article
The contribution of 7q33 copy number variations for intellectual disability
Lopes, Fátima, Torres, Fátima, Lynch, Sally Ann, Jorge, Arminda, Sousa, Susana, Silva, João, Rendeiro, Paula, Tavares, Purificação, Fortuna, Ana Maria, Maciel, Patrícia
Published in Neurogenetics (2018)
Published in Neurogenetics (2018)
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Journal Article
Genomic imbalances defining novel intellectual disability associated loci
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
Published in Orphanet journal of rare diseases (05.07.2019)
Published in Orphanet journal of rare diseases (05.07.2019)
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Journal Article
Genotype–phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis
Vos, Yvonne J, de Walle, Hermien E K, Bos, Krista K, Stegeman, Jenneke A, ten Berge, Annelies M, Bruining, Martijn, van Maarle, Merel C, Elting, Mariet W, den Hollander, Nicolette S, Hamel, Ben, Fortuna, Ana Maria, Sunde, Lone E M, Stolte-Dijkstra, Irene, Schrander-Stumpel, Connie T R M, Hofstra, Robert M W
Published in Journal of medical genetics (01.03.2010)
Published in Journal of medical genetics (01.03.2010)
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Journal Article
Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
Maia, Nuno, Soares, Ana Rita, Fortuna, Ana Maria, Marques, Isabel, Gonçalves, Ana, Santos, Rosário, Melo Pires, Manuel, de Brouwer, Arjan P. M., Jorge, Paula
Published in Clinical case reports (01.12.2020)
Published in Clinical case reports (01.12.2020)
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