Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Ana-Berta Sousa"'
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Autor:
Riccardo Sangermano, Iris Deitch, Virginie G. Peter, Rola Ba-Abbad, Emily M. Place, Erin Zampaglione, Naomi E. Wagner, Anne B. Fulton, Luisa Coutinho-Santos, Boris Rosin, Vincent Dunet, Ala’a AlTalbishi, Eyal Banin, Ana Berta Sousa, Mariana Neves, Anna Larson, Mathieu Quinodoz, Michel Michaelides, Tamar Ben-Yosef, Eric A. Pierce, Carlo Rivolta, Andrew R. Webster, Gavin Arno, Dror Sharon, Rachel M. Huckfeldt, Kinga M. Bujakowska
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Abstract Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort sequencing studies, a clear association with non-syndromic inherited retinal degenerations (I
Externí odkaz:
https://doaj.org/article/e208f44c488745faa67e41d6e10b7aa1
Autor:
Mathieu Quinodoz, Virginie G. Peter, Nicola Bedoni, Béryl Royer Bertrand, Katarina Cisarova, Arash Salmaninejad, Neda Sepahi, Raquel Rodrigues, Mehran Piran, Majid Mojarrad, Alireza Pasdar, Ali Ghanbari Asad, Ana Berta Sousa, Luisa Coutinho Santos, Andrea Superti-Furga, Carlo Rivolta
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-7 (2021)
Homozygosity mapping is a useful tool for identifying candidate mutations in recessive conditions, however application to next generation sequencing data has been sub-optimal. Here, the authors present AutoMap, which efficiently identifies runs of ho
Externí odkaz:
https://doaj.org/article/e12a3800741f47d7be5c3348cd65ae5a
Autor:
Patrícia Lipari Pinto, Catarina Machado, Patrícia Janeiro, Juliette Dupont, Sofia Quintas, Ana Berta Sousa, Ana Gaspar
Publikováno v:
JIMD Reports, Vol 53, Iss 1, Pp 2-9 (2020)
Abstract Pathogenic variants in the NGLY1 gene are associated with a Congenital Disorder of Deglycosylation (CDDG) characterized by delays in reaching developmental milestones, complex hyperkinetic movement disorder, transient elevation of transamina
Externí odkaz:
https://doaj.org/article/29dc8333e01c4efd916f41810852bfb1
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 59, Iss 2, Pp 318-322 (2020)
Objective: To describe the ultrasonographic, pathologic and molecular findings in a fetus with TAR syndrome, and to illustrate the contribution of chromosomal microarray analysis (CMA) to the etiological investigation of fetal upper limb reduction de
Externí odkaz:
https://doaj.org/article/fa061b4393454b0896f7e31be0f015cc
Publikováno v:
Clinical Dysmorphology. 32:70-73
Publikováno v:
Acta Médica Portuguesa, Vol 33, Iss 6 (2020)
Introdução: As encefalopatias epilépticas da infância constituem um grupo de patologias de início precoce e prognóstico neurológico reservado. O desenvolvimento das novas técnicas de estudo genético foi responsável pela identificação de n
Externí odkaz:
https://doaj.org/article/c9b2c7cd23564e58af81f97a68383462
Autor:
Susana L. Silva, Mariana Fonseca, Marcelo L. M. Pereira, Sara P. Silva, Rita R. Barbosa, Ana Serra-Caetano, Elena Blanco, Pedro Rosmaninho, Martin Pérez-Andrés, Ana Berta Sousa, Alexandre A. S. F. Raposo, Margarida Gama-Carvalho, Rui M. M. Victorino, Lennart Hammarstrom, Ana E. Sousa
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Monozygotic twins provide a unique opportunity to better understand complex genetic diseases and the relative contribution of heritable factors in shaping the immune system throughout life. Common Variable Immunodeficiency Disorders (CVID) are primar
Externí odkaz:
https://doaj.org/article/f08925a14492451396341b37449e3910
Autor:
Cristina Santos, Andreia Almeida, Rita Pinto, Karolina Kaminska, Virginie G. Peter, Ana-Berta Sousa, Carlo Rivolta, Luísa Coutinho-Santos
Publikováno v:
Ophthalmic Genetics. 43:576-580
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 56, Iss 4, Pp 541-544 (2017)
Objective: To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith–Lemli–Opitz syndrome (SLOS), after exclusion of chromosomal
Externí odkaz:
https://doaj.org/article/7d2ca71420ee42aaa47e0a28b69bccbb
Autor:
Lorenzo Monserrat Iglesias, María Luisa Peña-Peña, M N Brogger, Inês Cruz, María Alejandra Restrepo Córdoba, Alejandro Rodríguez Vilela, Arsonval Lamounier Junior, Carmen Benito López, Luis de la Higuera Romero, Alba Guitián González, Raúl Franco Gutiérrez, Pablo García Pavía, Tomás Ripoll-Vera, Alfredo Repáraz Andrade, María Victoria Mogollón Jiménez, Joel Salazar-Mendiguchía García, Xusto Fernández, Raquel Bilbao Quesada, Ana Berta Sousa, Olga Azevedo, Diego A. García, Luis R. Lopes, Martín Ortiz, Dulce Brito, Germán Fernández Ferro, Julián Palomino-Doza, M.J. Loureiro, Soledad García Hernández, Álvaro Rubio Alcaide, Ivonne Johana Cárdenas Reyes, Roberto Barriales-Villa, Marcos Cicerchia, José M. Larrañaga-Moreira, Juan Pablo Ochoa
Publikováno v:
Revista Española de Cardiología. 75:242-250
Resumen Introduccion y objetivos TPM1 es uno de los principales genes en la miocardiopatia hipertrofica (MCH). La informacion clinica sobre portadores es relativamente escasa, lo cual limita la interpretacion de los estudios geneticos. Nuestro objeti