Search Results - "Berta Sousa, Ana"

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data by Quinodoz, Mathieu, Peter, Virginie G, Bedoni, Nicola, Royer Bertrand, Béryl, Cisarova, Katarina, Salmaninejad, Arash, Sepahi, Neda, Rodrigues, Raquel, Piran, Mehran, Mojarrad, Majid, Pasdar, Alireza, Ghanbari Asad, Ali, Fonseca Vieira Álvares Sousa Ferrand Almeida, Ana Berta, Santos, Maria Luisa, Superti-Furga, Andrea, Rivolta, Carlo

“…© The Author(s) 2021. Open AccessThis article is licensed under a Creative CommonsAttribution 4.0 International License, which permits use, sharing,adaptation,…”
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NGLY1 deficiency—A rare congenital disorder of deglycosylation by Lipari Pinto, Patrícia, Machado, Catarina, Janeiro, Patrícia, Dupont, Juliette, Quintas, Sofia, Sousa, Ana Berta, Gaspar, Ana

“…Pathogenic variants in the NGLY1 gene are associated with a Congenital Disorder of Deglycosylation (CDDG) characterized by delays in reaching developmental…”
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Face-sparing Congenital Generalized Lipodystrophy Type 1 Associated With Nonclassical Congenital Adrenal Hyperplasia by Costa, Sara, Sampaio, Lurdes, Berta Sousa, Ana, Xing, Chao, Agarwal, Anil K, Garg, Abhimanyu

“…Congenital generalized lipodystrophy, type 1 (CGL1), due to biallelic pathogenic variants in AGPAT2, is characterized by the near total loss of body fat from…”
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New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV by Peter, Virginie G., Quinodoz, Mathieu, Sadio, Silvia, Held, Sebastian, Rodrigues, Márcia, Soares, Marta, Sousa, Ana Berta, Coutinho Santos, Luisa, Damme, Markus, Rivolta, Carlo

“…In murine and canine animal models, mutations in the Arylsulfatase G gene (ARSG) cause a particular lysosomal storage disorder characterized by neurological…”
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PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome by Agarwal, Anil K., Xing, Chao, DeMartino, George N., Mizrachi, Dario, Hernandez, Maria Dolores, Sousa, Ana Berta, Martínez de Villarreal, Laura, dos Santos, Heloísa G., Garg, Abhimanyu

“…We performed homozygosity mapping in two recently reported pedigrees from Portugal and Mexico with an autosomal-recessive autoinflammatory syndrome…”
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New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV by Peter, Virginie G., Quinodoz, Mathieu, Sadio, Silvia, Held, Sebastian, Rodrigues, Márcia, Soares, Marta, Sousa, Ana Berta, Santos, Luisa Coutinho, Damme, Markus, Rivolta, Carlo

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Anisometropia and asymmetric ABCA4-related cone-rod dystrophy by Santos, Cristina, Almeida, Andreia, Pinto, Rita, Kaminska, Karolina, Peter, Virginie G., Sousa, Ana-Berta, Rivolta, Carlo, Coutinho-Santos, Luísa

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Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta by Syx, Delfien, Guillemyn, Brecht, Symoens, Sofie, Sousa, Ana Berta, Medeira, Ana, Whiteford, Margo, Hermanns‐Lê, Trinh, Coucke, Paul J, De Paepe, Anne, Malfait, Fransiska

“…ABSTRACT Whereas the vast majority of osteogenesis imperfecta (OI) is caused by autosomal dominant defects in the genes encoding type I procollagen, mutations…”
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Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders by Dupont, Juliette, Vieira, José Pedro, Tavares, Ana Lisa Taylor, Conceição, Carla Ribeiro, Khan, Suliman, Bertoli‐Avella, Aida Maria, Sousa, Ana Berta

“…Congenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by a primary disturbance of innervation…”
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An Autosomal Recessive Syndrome of Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Associated Lipodystrophy by Garg, Abhimanyu, Hernandez, Maria Dolores, Sousa, Ana Berta, Subramanyam, Lalitha, Martínez de Villarreal, Laura, dos Santos, Heloísa G., Barboza, Oralia

“…Context: Genetic lipodystrophies are rare disorders characterized by partial or complete loss of adipose tissue and predisposition to insulin resistance and…”
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Neonatal McCune-Albright syndrome with systemic involvement: a case report by Lourenço, Rita, Dias, Patrícia, Gouveia, Raquel, Sousa, Ana Berta, Oliveira, Graça

“…McCune-Albright syndrome is a rare sporadic disease characterized by fibrous bone dysplasia, café-au-lait skin spots and variable hyperfunctional…”
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Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy by Travessa, André M., Díaz‐González, Francisca, Mirco, Teresa, Oliveira‐Ramos, Filipa, Parrón‐Pajares, Manuel, Heath, Karen E., Sousa, Ana Berta

“…Spondyloepiphyseal dysplasia type Stanescu (SED‐S) is a very rare type II collagenopathy. We describe an 8‐year‐old boy who presented with short trunk, C2‐C3…”
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Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects by Travessa, André M., Dias, Patrícia, Santos, Antónia, Custódio, Sónia, Sousa, Ana, Sousa, Ana Berta

“…To describe the ultrasonographic, pathologic and molecular findings in a fetus with TAR syndrome, and to illustrate the contribution of chromosomal microarray…”
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Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes by Justino, Ana, Dias, Patrícia, João Pina, Maria, Sousa, Sónia, Cirnes, Luís, Berta Sousa, Ana, Carlos Machado, José, Costa, José Luis

“…Variants in 11 genes of the RAS/MAPK signaling pathway have been causally linked to the neuro-cardio-facio-cutaneous syndromes group (NCFCS). Recently, A2ML1…”
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Prenatal diagnosis of holoprosencephaly associated with Smith–Lemli–Opitz syndrome (SLOS) in a 46,XX fetus by Travessa, André, Dias, Patrícia, Rocha, Pedro, Sousa, Ana Berta

“…To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly)…”
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Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation by Polla, Daniel L., Edmondson, Andrew C., Duvet, Sandrine, March, Michael E., Sousa, Ana Berta, Lehman, Anna, Niyazov, Dmitriy, van Dijk, Fleur, Demirdas, Serwet, van Slegtenhorst, Marjon A., Kievit, Anneke J.A., Schulz, Celine, Armstrong, Linlea, Bi, Xin, Rader, Daniel J., Izumi, Kosuke, Zackai, Elaine H., de Franco, Elisa, Jorge, Paula, Huffels, Sophie C., Hommersom, Marina, Ellard, Sian, Lefeber, Dirk J., Santani, Avni, Hand, Nicholas J., van Bokhoven, Hans, He, Miao, de Brouwer, Arjan P.M.

“…EDEM3 encodes a protein that converts Man8GlcNAc2 isomer B to Man7-5GlcNAc2. It is involved in the endoplasmic reticulum-associated degradation pathway,…”
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Encefalopatias Epilépticas Infantis: O Novo Paradigma do Diagnóstico Genético by Martins, Rita, Moldovan, Oana, Sousa, Ana Berta, Levy, António, Quintas, Sofia

“…Introdução: As encefalopatias epilépticas da infância constituem um grupo de patologias de início precoce e prognóstico neurológico reservado. O…”
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Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach by Marques, Isabel, Sá, Maria João, Soares, Gabriela, Mota, Maria do Céu, Pinheiro, Carla, Aguiar, Lisa, Amado, Marta, Soares, Christina, Calado, Angelina, Dias, Patrícia, Sousa, Ana Berta, Fortuna, Ana Maria, Santos, Rosário, Howell, Katherine B., Ryan, Monique M., Leventer, Richard J, Sachdev, Rani, Catford, Rachael, Friend, Kathryn, Mattiske, Tessa R., Shoubridge, Cheryl, Jorge, Paula

“…The Aristaless‐related homeobox (ARX) gene is implicated in intellectual disability with the most frequent pathogenic mutations leading to expansions of the…”
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The added value of a multidisciplinary clinic for systemic autoinflammatory diseases by Zinterl, Carolina, Costa Reis, Patricia, Esteves, Isabel Castro, MARQUES, JOSÉ, Fonseca Vieira Álvares Sousa Ferrand Almeida, Ana Berta, Fonseca, João, Oliveira Ramos, Filipa

“…© 2022 The Author(s). This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at…”
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Monozygotic twins concordant for common variable immunodeficiency : strikingly similar clinical and immune profile associated with a polygenic burden by Silva, Susana L., Fonseca, Mariana, Pereira, Marcelo L. M., Silva, Sara P., Barbosa, Rita R., Caetano, Ana, Blanco, Elena, Rosmaninho, Pedro, Pérez-Andrés, Martin, Fonseca Vieira Álvares Sousa Ferrand Almeida, Ana Berta, Raposo, Alexandre, da Gama Carvalho, Margarida, Victorino, Rui, Hammarstrom, Lennart, Sousa, Ana E.

“…Copyright © 2019 Silva, Fonseca, Pereira, Silva, Barbosa, Serra-Caetano, Blanco, Rosmaninho, Pérez-Andrés, Sousa, Raposo, Gama-Carvalho, Victorino, Hammarstrom…”
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