Zobrazeno 1 - 10
of 88
pro vyhledávání: '"M. B. Carvalho"'
Autor:
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E. L. M. Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M. Butler, Michael J. Lyons, Claudia M. B. Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane McCormick, Mary Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Operto, Federico Zara, Karin Writzl, Aleš Maver, Maria K. Haanpää, Pia Pohjola, Harri Arikka, Anneke J. A. Kievit, Camilla Calandrini, Christian Iseli, Nicolas Guex, Alexandre Reymond
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)
Abstract Background We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. Mouse knock-in
Externí odkaz:
https://doaj.org/article/0358fc56f6054b188a138c71c996e968
Autor:
Leonardo T. Kimura, Felipe K. Shiraishi, Ewerton R. Andrade, Tereza C. M. B. Carvalho, Marcos A. Simplicio
Publikováno v:
IEEE Access, Vol 12, Pp 9632-9647 (2024)
The bioeconomy, an industrial production model based on biological resources and sustainable development, can be considered an emerging opportunity for biodiversity-abundant regions, such as the Amazon rainforest. However, existing genomic repositori
Externí odkaz:
https://doaj.org/article/7a625d91332b47a28f28c3b1980f17a1
Autor:
Haowei Du, Angad Jolly, Christopher M. Grochowski, Bo Yuan, Moez Dawood, Shalini N. Jhangiani, He Li, Donna Muzny, Jawid M. Fatih, Zeynep Coban-Akdemir, Mary Esther Carlin, Angela E. Scheuerle, Karin Witzl, Jennifer E. Posey, Matthew Pendleton, Eoghan Harrington, Sissel Juul, P. J. Hastings, Weimin Bi, Richard A. Gibbs, Fritz J. Sedlazeck, James R. Lupski, Claudia M. B. Carvalho, Pengfei Liu
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-21 (2022)
Abstract Background The multiple de novo copy number variant (MdnCNV) phenotype is described by having four or more constitutional de novo CNVs (dnCNVs) arising independently throughout the human genome within one generation. It is a rare peri-zygoti
Externí odkaz:
https://doaj.org/article/fea7d8f692a64a578e2bc6531220b304
Autor:
Antônio L Cunha, Ana P S Champs, Carla M. Mello, Mônica M. M. Navarro, Frederico J. C. Godinho, Cássia M. B. Carvalho, Teresa C. A. Ferrari
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract Some studies report neurological lesions in patients with genetic skeletal disorders (GSDs). However, none of them describe the frequency of neurological lesions in a large sample of patients or investigate the associations between clinical
Externí odkaz:
https://doaj.org/article/f5f8c1da2e4d481d9622a5a62bec3f3d
Autor:
Christopher M. Grochowski, Ana C. V. Krepischi, Jesper Eisfeldt, Haowei Du, Debora R. Bertola, Danyllo Oliveira, Silvia S. Costa, James R. Lupski, Anna Lindstrand, Claudia M. B. Carvalho
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Chromoanagenesis is a descriptive term that encompasses classes of catastrophic mutagenic processes that generate localized and complex chromosome rearrangements in both somatic and germline genomes. Herein, we describe a 5-year-old female presenting
Externí odkaz:
https://doaj.org/article/8a873fbdda0b4b51851f5d6ff4ae32c4
Autor:
Vahid Bahrambeigi, Xiaofei Song, Karen Sperle, Christine R. Beck, Hadia Hijazi, Christopher M. Grochowski, Shen Gu, Pavel Seeman, Karen J. Woodward, Claudia M. B. Carvalho, Grace M. Hobson, James R. Lupski
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
Abstract Background We investigated the features of the genomic rearrangements in a cohort of 50 male individuals with proteolipid protein 1 (PLP1) copy number gain events who were ascertained with Pelizaeus-Merzbacher disease (PMD; MIM: 312080). We
Externí odkaz:
https://doaj.org/article/e62010d3a4f7460980eda6cd0e59006b
Autor:
Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson, Claudia M. B. Carvalho, Malin Kvarnung, Giedre Grigelioniene, Britt-Marie Anderlid, Olof Bjerin, Peter Gustavsson, Anna Hammarsjö, Patrik Georgii-Hemming, Erik Iwarsson, Maria Johansson-Soller, Kristina Lagerstedt-Robinson, Agne Lieden, Måns Magnusson, Marcel Martin, Helena Malmgren, Magnus Nordenskjöld, Ameli Norling, Ellika Sahlin, Henrik Stranneheim, Emma Tham, Josephine Wincent, Sofia Ygberg, Anna Wedell, Valtteri Wirta, Ann Nordgren, Johanna Lundin, Daniel Nilsson
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-23 (2019)
Abstract Background Since different types of genetic variants, from single nucleotide variants (SNVs) to large chromosomal rearrangements, underlie intellectual disability, we evaluated the use of whole-genome sequencing (WGS) rather than chromosomal
Externí odkaz:
https://doaj.org/article/494c641092944226bbd8ae351521590b
Autor:
Katharina V. Schulze, Przemyslaw Szafranski, Harry Lesmana, Robert J. Hopkin, Aaron Hamvas, Jennifer A. Wambach, Marwan Shinawi, Gladys Zapata, Claudia M. B. Carvalho, Qian Liu, Justyna A. Karolak, James R. Lupski, Neil A. Hanchard, Paweł Stankiewicz
Publikováno v:
Clinical Epigenetics, Vol 11, Iss 1, Pp 1-10 (2019)
Abstract Background Congenital malformations associated with maternal uniparental disomy of chromosome 16, upd(16)mat, resemble those observed in newborns with the lethal developmental lung disease, alveolar capillary dysplasia with misalignment of p
Externí odkaz:
https://doaj.org/article/bf6be8c5ff914536b4d51e4548e033c3
Autor:
Claudia M. B. Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, Bo Yuan, Matthew Pendleton, Eoghan Harrington, John Beaulaurier, Sissel Juul, Daniel J. Turner, Rupa S. Kanchi, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Baylor-Hopkins Center for Mendelian Genomics, Pawel Stankiewicz, John W. Belmont, Chad A. Shaw, Sau Wai Cheung, Neil A. Hanchard, V. Reid Sutton, Patricia I. Bader, James R. Lupski
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-14 (2019)
Abstract Background Intrachromosomal triplications (TRP) can contribute to disease etiology via gene dosage effects, gene disruption, position effects, or fusion gene formation. Recently, post-zygotic de novo triplications adjacent to copy-number neu
Externí odkaz:
https://doaj.org/article/9879805980e143e1af4e72fdff58ff03
Autor:
Somayyeh Fahiminiya, Spyros Oikonomopoulos, Georges‐Etienne Rivard, Mira Gandhi, Patrick Scott, Alexandre Montpetit, Shu‐Huang Chen, KyungHee Park, Catherine Vezina, Jiannis Ragoussis, Claudia M. B. Carvalho, Grant A. Mitchell, Jean‐Francois Soucy, Julie Gauthier
Publikováno v:
Haemophilia. 29:921-924
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9a6d98d7c3c70211dd6d22e3564d4dbd
https://doi.org/10.1111/hae.14771
https://doi.org/10.1111/hae.14771