Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Aafke Engwerda"'
Autor:
Eleana Rraku, Wilhelmina S. Kerstjens-Frederikse, Morris A. Swertz, Trijnie Dijkhuizen, Conny M. A. van Ravenswaaij-Arts, Aafke Engwerda
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-19 (2023)
Abstract Background Terminal 6p deletions are rare, and information on their clinical consequences is scarce, which impedes optimal management and follow-up by clinicians. The parent-driven Chromosome 6 Project collaborates with families of affected
Externí odkaz:
https://doaj.org/article/9c3d5644b96e48dc9ed60be05d88350d
Autor:
Aafke Engwerda, Wilhelmina S. Kerstjens-Frederikse, Nicole Corsten-Janssen, Trijnie Dijkhuizen, Conny M. A. van Ravenswaaij-Arts
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-19 (2023)
Abstract Background Terminal 6q deletions are rare, and the number of well-defined published cases is limited. Since parents of children with these aberrations often search the internet and unite via international social media platforms, these dedica
Externí odkaz:
https://doaj.org/article/dfee0e5131eb49a09ec2b063804165ed
Autor:
Aafke Engwerda, Barbara Frentz, Eleana Rraku, Nadia F. Simoes de Souza, Morris A. Swertz, Mirjam Plantinga, Wilhelmina S. Kerstjens-Frederikse, Adelita V. Ranchor, Conny M. A. van Ravenswaaij-Arts
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
Abstract Background Even with the introduction of new genetic techniques that enable accurate genomic characterization, knowledge about the phenotypic spectrum of rare chromosomal disorders is still limited, both in literature and existing databases.
Externí odkaz:
https://doaj.org/article/60a0bb896d4c4caa93d00fd4f4ff490c
Autor:
Aafke Engwerda, Kristin M. Abbott, Marrit M. Hitzert, Conny M. A. van Ravenswaaij-Arts, Wilhelmina S. Kerstjens-Frederikse
Publikováno v:
European Journal of Human Genetics, 31. Nature Publishing Group
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc46eb8b09a9a07ca23faa4f3cf71b0b
https://research.rug.nl/en/publications/082fc8b0-b1d5-4703-910a-2f5acba2fba9
https://research.rug.nl/en/publications/082fc8b0-b1d5-4703-910a-2f5acba2fba9
Autor:
Aafke Engwerda, Maarten P. van den Berg, Wilhelmina S. Kerstjens-Frederikse, Yvonne J. Vos, Bert B.A. de Vries, Tuula Rinne, Marc T R Roofthooft, Paulien A Terhal, Patrick Deelen, Conny M. A. van Ravenswaaij-Arts, Barbara Frentz, Katharina Löhner, Trijnie Dijkhuizen, Erika Leenders
Publikováno v:
European Journal of Human Genetics, 29, 1669-1676. Nature Publishing Group
Eur J Hum Genet
Eur J Hum Genet
Deletions that include the gene TAB2 and TAB2 loss-of-function variants have previously been associated with congenital heart defects and cardiomyopathy. However, other features, including short stature, facial dysmorphisms, connective tissue abnorma
Autor:
Aafke Engwerda, Wilhelmina S. Kerstjens-Frederikse, Nicole Corsten-Janssen, Trijnie Dijkhuizen, Conny M. A. van Ravenswaaij-Arts
BackgroundTerminal 6q deletions are rare, and the number of well-defined published cases is limited. Since parents of children with these aberrations often search the internet and unite via international social media platforms, these dedicated platfo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ef8b7e228c3c73b733ea9fcfcbedb223
https://doi.org/10.1101/2022.11.08.22282043
https://doi.org/10.1101/2022.11.08.22282043
Autor:
Aafke, Engwerda, Kristin M, Abbott, Marrit M, Hitzert, Conny M A, van Ravenswaaij-Arts, Wilhelmina S, Kerstjens-Frederikse
Publikováno v:
European journal of human genetics : EJHG.
Autor:
Jessica Assoumani, Morgane Plutino, Caroline Benech, Nathalie Marle, Houda Karmous-Benailly, Elise Boudry Labis, Sylvia Redon, Lionel Van Maldergem, Hala Nasser, Nathalie Couque, Myriam Rachid, Anne-Claude Tabet, Bérénice Schell, Aafke Engwerda, Mélanie Rama, Odile Boute, Céline Dupont, Conny M. A. van Ravenswaaij-Arts, Patrick Callier, Lyse Ruaud, Jonathan I. Levy, Paul Kuentz, Alain Verloes, Laurence Faivre
Publikováno v:
Clinical Genetics
Clinical Genetics, 2021, 100 (4), pp.396-404. ⟨10.1111/cge.14017⟩
Clinical Genetics. Wiley
Clinical Genetics, 2021, 100 (4), pp.396-404. ⟨10.1111/cge.14017⟩
Clinical Genetics. Wiley
International audience; Ephrin receptor and their ligands, the ephrins, are widely expressed in the developing brain. They are implicated in several developmental processes that are crucial for brain development. Deletions in genes encoding for membe
Autor:
Odile Boute, Lyse Ruaud, Aafke Engwerda, Anne-Claude Tabet, Lionel Van Maldergem, Patrick Callier, Bérénice Schell, Céline Dupont, Jessica Assoumani, Caroline Benech, Nathalie Marle, Nathalie Couque, Houda Karmous-Benailly, Jonathan Levy, Elise Boudry Labis, Mélanie Rama, Alain Verloes, Sylvia Redon, Myriam Rachid, Conny M. A. Ravenswaaij‐Arts, Laurence Faivre, Morgane Plutino, Paul Kuentz, Hala Nasser
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf1b963ac1a0a8b3e691b08b6f668fe6
https://doi.org/10.1111/cge.14017/v3/response1
https://doi.org/10.1111/cge.14017/v3/response1
Autor:
Conny M. A. van Ravenswaaij-Arts, Barbara Frentz, Boudien C.T. Flapper, Aafke Engwerda, Mirjam Plantinga, Trijnie Dijkhuizen, Morris A. Swertz, A Lya den Ouden, Erica H. Gerkes
Publikováno v:
European Journal of Human Genetics, 26(10), 1478-1489. Nature Publishing Group
Proximal 6q (6q11-q15) deletions are extremely rare and little is known about their phenotypic consequences. Since parents and caregivers now use social media to seek information on rare disorders, the Chromosome 6 Project has successfully collaborat