ProfileOfResearchers

TITLE: Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition Full Text
AUTHORS: Palmer, Elizabeth E.; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H.; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogne, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S.; Chedrawi, Aziza; Hashem, Mais O.; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stephanie; Raynaud, Martine; Motter, Constance S.; Ward Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B.; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J.; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza Londono, Roberto; Dudding Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie Aude; Piton, Amelie; Gerard, Benedicte; Warde, Marie Therese Abi; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M.; Sands, Tristan T.; Wilson, Golder N.; Silvertooth, Erin J.; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H.; Ockeloen, Charlotte W.; Pfundt, Rolph; Kroft, Sanne D.; Field, Michael; Laranjeira, Francisco E. R. ; Fortuna, Ana M.; Soares, Ana R.; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D.; Bird, Lynne M.; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Polsler, Laura; Campeau, Philippe M.; Blazo, Maria; Bijlsma, Emilia K.; Rosenfeld, Jill A.; Beetz, Christian; Powis, Zoe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikael; Mohammad, Shekeeb S.; Armstrong, Ruth; Kalscheuer, Vera M.; ...More
PUBLISHED: 2022, SOURCE: MOLECULAR PSYCHIATRY, VOLUME: 28, ISSUE: 2

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TITLE: Case Report: Diffuse Polymicrogyria Associated With a Novel <i>ADGRG1</i> Variant
AUTHORS: Carneiro, Fabio; Duarte, Julia; Laranjeira, Francisco ; Barbosa Gouveia, Sofia; Couce, Maria Luz; Fonseca, Maria Jose;
PUBLISHED: 2021, SOURCE: FRONTIERS IN PEDIATRICS, VOLUME: 9

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TITLE: Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience Full Text
AUTHORS: Quelhas, D ; Martins, E ; Azevedo, L ; Bandeira, A; Diogo, L; Garcia, P; Sequeira, S; Ferreira, AC; Teles, EL; Rodrigues, E; Fortuna, AM; Mendonca, C; Fernandes, HC; Medeira, A; Gaspar, A; Janeiro, P; Oliveira, A; Laranjeira, F ; Ribeiro, I; Souche, E; Race, V; Keldermans, L; Matthijs, G; Jaeken, J; ...More
PUBLISHED: 2021, SOURCE: JOURNAL OF PEDIATRICS, VOLUME: 231

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TITLE: Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C&#x3e;T (p.R312*)
AUTHORS: Rita Quelhas da Costa; Francisco Laranjeira ; Isaura Duarte Ribeiro; António Filipe Santos; Filipe Nery;
PUBLISHED: 2021, SOURCE: GE - Portuguese Journal of Gastroenterology, VOLUME: 29, ISSUE: 4

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TITLE: Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center Full Text
AUTHORS: Sofia Barbosa-Gouveia; María E Vázquez-Mosquera; Emiliano González-Vioque; José V Álvarez; Roi Chans; Francisco Laranjeira ; Esmeralda Martins; Ana Cristina Ferreira; Alejandro Avila-Alvarez; María L Couce;
PUBLISHED: 2021, SOURCE: Genes, VOLUME: 12, ISSUE: 8

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TITLE: Genotype-phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil
AUTHORS: Neto, EV; Laranjeira, F ; Quelhas, D ; Ribeiro, I; Seabra, A; Mineiro, N; Carvalho, LM; Lacerda, L; Ribeiro, MG;
PUBLISHED: 2019, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE, VOLUME: 7, ISSUE: 5

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TITLE: Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients Full Text
AUTHORS: Ana Fernández-Marmiesse; Iria Roca; Felícitas Díaz-Flores; Verónica Cantarín; Mª Socorro Pérez-Poyato; Ana Fontalba; Francisco Laranjeira ; Sofia Quintans; Oana Moldovan; Blanca Felgueroso; Montserrat Rodríguez-Pedreira; Rogelio Simón; Ana Camacho; Pilar Quijada; Salvador Ibanez-Mico; Mª Rosario Domingno; Carmen Benito; Rocío Calvo; Antonia Pérez-Cejas; Mª Llanos Carrasco; Feliciano Ramos; Mª Luz Couce; Mª Luz Ruiz-Falcó; Luis Gutierrez-Solana; Margarita Martínez-Atienza; ...More
PUBLISHED: 2019, SOURCE: Frontiers in Neuroscience, VOLUME: 13

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TITLE: Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil
AUTHORS: Neto, EV; Laranjeira, F ; Quelhas, D; Ribeiro, I; Seabra, A; Mineiro, N; Carvalho, LDM; Lacerda, L; Ribeiro, MG;
PUBLISHED: 2018, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE, VOLUME: 6, ISSUE: 4

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TITLE: Biomarkers and Imaging Findings of Anderson–Fabry Disease—What We Know Now
AUTHORS: Idalina Beirão; Ana Cabrita; Márcia Torres; Fernando Silva; Patrício Aguiar; Francisco Laranjeira ; Ana Marta Gomes;
PUBLISHED: 2017, SOURCE: Diseases, VOLUME: 5, ISSUE: 2

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