Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Sérgio B. Sousa"'
Autor:
Melita Irving, Moeenaldeen AlSayed, Paul Arundel, Geneviève Baujat, Tawfeg Ben-Omran, Silvio Boero, Valérie Cormier-Daire, Svein Fredwall, Encarna Guillen-Navarro, Heike Hoyer-Kuhn, Philip Kunkel, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)
Abstract Foramen magnum stenosis is a serious, and potentially life-threatening complication of achondroplasia. The foramen magnum is smaller in infants with achondroplasia, compared with the general population, and both restricted growth in the firs
Externí odkaz:
https://doaj.org/article/eb78080e2c434377aaa9e8a9291addef
Autor:
Ravi Savarirayan, Daniel G. Hoernschemeyer, Merete Ljungberg, Yuri A. Zarate, Carlos A. Bacino, Michael B. Bober, Janet M. Legare, Wolfgang Högler, Teresa Quattrin, M. Jennifer Abuzzahab, Paul L. Hofman, Klane K. White, Nina S. Ma, Dirk Schnabel, Sérgio B. Sousa, Meng Mao, Alden Smith, Mukta Chakraborty, Adebola Giwa, Bent Winding, Birgitte Volck, Aimee D. Shu, Ciara McDonnell
Publikováno v:
EClinicalMedicine, Vol 65, Iss , Pp 102258- (2023)
Summary: Background: TransCon CNP (navepegritide) is an investigational prodrug of C-type natriuretic peptide (CNP) designed to allow for continuous CNP exposure with once-weekly dosing. This 52-week phase 2 (ACcomplisH) trial assessed the safety and
Externí odkaz:
https://doaj.org/article/07498b64dfd0403e9988b282f640b406
Autor:
Svein Fredwall, Yana Allum, Moeenaldeen AlSayed, Inês Alves, Tawfeg Ben-Omran, Silvio Boero, Valerie Cormier-Daire, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa, Michael Wright
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Achondroplasia is a genetic condition that can cause complications across the lifespan. While complications in childhood are well documented, the natural history of achondroplasia in adults has, until recently, been relatively lac
Externí odkaz:
https://doaj.org/article/cb46adf9cdcb43049cc7aa6a0929e203
Autor:
Valerie Cormier-Daire, Moeenaldeen AlSayed, Inês Alves, Joana Bengoa, Tawfeg Ben-Omran, Silvio Boero, Svein Fredwall, Catherine Garel, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Sérgio B. Sousa, Klaus Mohnike
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Achondroplasia is the most common form of skeletal dysplasia, with serious comorbidities and complications that may occur from early infancy to adulthood, requiring lifelong management from a multidisciplinary team expert in the c
Externí odkaz:
https://doaj.org/article/c95eaedd27f041c49ac66eb991d82502
Publikováno v:
Joint Bone Spine. 90:105547
Autor:
Valérie Cormier-Daire, Tawfeg Ben-Omran, Zagorka Peijin, Christian Lampe, Geert Mortier, Silvio Boero, Svein O. Fredwall, Melita Irving, Sérgio B. Sousa, Moeenaldeen Al-Sayed, Encarna Guillén-Navarro, Mohamad Maghnie, Klaus Mohnike
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)
Orphanet journal of rare diseases
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases
Orphanet Journal of Rare Diseases
Achondroplasia is the most common type of skeletal dysplasia, caused by a recurrent pathogenic variant in the fibroblast growth factor receptor 3 (FGFR3). The management of achondroplasia is multifaceted, requiring the involvement of multiple special
Autor:
Zain Awamleh, Sanaa Choufani, Cheryl Cytrynbaum, Fowzan S Alkuraya, Stephen Scherer, Sofia Fernandes, Catarina Rosas, Pedro Louro, Patricia Dias, Mariana Tomásio Neves, Sérgio B Sousa, Rosanna Weksberg
Publikováno v:
Human molecular genetics.
Pathogenic variants in ANKRD11 or microdeletions at 16q24.3 are the cause of KBG syndrome (KBGS), a neurodevelopmental syndrome characterized by intellectual disability, dental and skeletal anomalies, and characteristic facies. The ANKRD11 gene encod
Autor:
Guiomar Perez de Nanclares, José Carlos Cardoso, Katarina Kieselova, Sérgio B. Sousa, Felicidade Santiago, Fernanda Cunha, Tiago Fernandes Gomes
Publikováno v:
Journal of Paediatrics and Child Health. 58:1262-1264
Autor:
Wiebke Hülsemann, Sérgio B. Sousa, Seval Türkmen, Pedro Louro, Vera M. Kalscheuer, Martin Vingron, Anna Latos-Bielenska, Marius-Konstantin Klever, Stefan Mundlos, Manuel Holtgrewe, Andreas Dufke, Björn Fischer-Zirnsak, Malte Spielmann, Fabiola Quintero-Rivera, Martin A. Mensah, Rocio Acuna-Hidalgo, Verena Heinrich, Eunice Matoso, Ilina D. Pluym, Uirá Souto Melo, Monika Cohen, Robert Schöpflin
Publikováno v:
Am J Hum Genet
American journal of human genetics, vol 106, iss 6
American journal of human genetics, vol 106, iss 6
Genome-wide analysis methods, such as array comparative genomic hybridization (CGH) and whole-genome sequencing (WGS), have greatly advanced the identification of structural variants (SVs) in the human genome. However, even with standard high-through
Autor:
Belinda Campos-Xavier, Noriko Miyake, Andrea Superti-Furga, Gabriela Ferraz Leal, Mathieu Quinodoz, Sérgio B. Sousa, Elizabeth C. Engle, Virginie G. Peter, Silvio Alessandro Di Gioia, Naomichi Matsumoto, Jorge Pinto-Basto, Carlo Rivolta, Sheila Unger, Frederic Shapiro, Rosanna Pescini Gobert, Eduardo D. Silva, Gabriela Soares
Publikováno v:
Genetics in Medicine
Genetics in medicine, vol. 21, no. 12, pp. 2734-2743
Genetics in medicine, vol. 21, no. 12, pp. 2734-2743
Purpose We observed four individuals in two unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with sc