Zobrazeno 1 - 10
of 113
pro vyhledávání: '"Conny M. A. van Ravenswaaij-Arts"'
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:
Annemiek M. Landlust, Linda Visser, Boudien C. T. Flapper, Selma A. J. Ruiter, Renée J. Zwanenburg, Conny M. A. van Ravenswaaij-Arts, Ingrid D. C. van Balkom
Publikováno v:
Frontiers in Psychiatry, Vol 13 (2022)
BackgroundPhelan-McDermid syndrome (PMS) or 22q13.3 deletion syndrome is a rare genetic disorder characterized by developmental delay, hypotonia and severely delayed speech. Behavioral difficulties are often reported in PMS, although knowledge of beh
Externí odkaz:
https://doaj.org/article/40dd49d50c1a43dbbc21288a4adacdde
Publikováno v:
Case Reports in Genetics, Vol 2022 (2022)
Craniosynostosis, the premature fusion of the calvarial bones, has numerous etiologies. Among them, several involve mutations in genes related to the TGFb signaling pathway, a critical molecular mediator of human development. These TGFb pathway-assoc
Externí odkaz:
https://doaj.org/article/d5aaa8b618f342bcaf2d01ac4e626ada
Autor:
Patrick Deelen, Sipko van Dam, Johanna C. Herkert, Juha M. Karjalainen, Harm Brugge, Kristin M. Abbott, Cleo C. van Diemen, Paul A. van der Zwaag, Erica H. Gerkes, Evelien Zonneveld-Huijssoon, Jelkje J. Boer-Bergsma, Pytrik Folkertsma, Tessa Gillett, K. Joeri van der Velde, Roan Kanninga, Peter C. van den Akker, Sabrina Z. Jan, Edgar T. Hoorntje, Wouter P. te Rijdt, Yvonne J. Vos, Jan D. H. Jongbloed, Conny M. A. van Ravenswaaij-Arts, Richard Sinke, Birgit Sikkema-Raddatz, Wilhelmina S. Kerstjens-Frederikse, Morris A. Swertz, Lude Franke
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
A genetic diagnosis remains unattainable for many individuals with a rare disease because of incomplete knowledge about the genetic basis of many diseases. Here, the authors present the web-based tool GADO (GeneNetwork Assisted Diagnostic Optimizatio
Externí odkaz:
https://doaj.org/article/8256eeb26c5746a9a9e8d6dcd1fd68ae
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:
Silke Pauli, Roser Ufartes, Fritz Kahl, Conny M. A. van Ravenswaaij-Arts, Monica T. Y. Wong, Maren Sitte, Regina Grün, Gabriela Salinas
Publikováno v:
Human Molecular Genetics, 30(23), 2215-2224. Oxford University Press
CHARGE syndrome is an autosomal dominant malformation disorder caused by pathogenic variants in the chromatin remodeler CHD7. Affected are craniofacial structures, cranial nerves and multiple organ systems. Depending on the combination of malformatio
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