Zobrazeno 1 - 10
of 299
pro vyhledávání: '"Joris A Veltman"'
Autor:
Birgit Stallmeyer, Clara Bühlmann, Rytis Stakaitis, Ann-Kristin Dicke, Farah Ghieh, Luisa Meier, Ansgar Zoch, David MacKenzie MacLeod, Johanna Steingröver, Özlem Okutman, Daniela Fietz, Adrian Pilatz, Antoni Riera-Escamilla, Miguel J. Xavier, Christian Ruckert, Sara Di Persio, Nina Neuhaus, Ali Sami Gurbuz, Ahmet Şalvarci, Nicolas Le May, Kevin McEleny, Corinna Friedrich, Godfried van der Heijden, Margot J. Wyrwoll, Sabine Kliesch, Joris A. Veltman, Csilla Krausz, Stéphane Viville, Donald F. Conrad, Dónal O’Carroll, Frank Tüttelmann
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract piRNAs are crucial for transposon silencing, germ cell maturation, and fertility in male mice. Here, we report on the genetic landscape of piRNA dysfunction in humans and present 39 infertile men carrying biallelic variants in 14 different p
Externí odkaz:
https://doaj.org/article/f298226160c54693a03e5498d577cfea
Autor:
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon
Publikováno v:
PLoS Genetics, Vol 13, Iss 3, p e1006683 (2017)
Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in ex
Externí odkaz:
https://doaj.org/article/440a8175bc6a4b288c26413ff92775b4
Autor:
Pía Villanueva, Ron Nudel, Alexander Hoischen, María Angélica Fernández, Nuala H Simpson, Christian Gilissen, Rose H Reader, Lillian Jara, María Magdalena Echeverry, Clyde Francks, Gillian Baird, Gina Conti-Ramsden, Anne O'Hare, Patrick F Bolton, Elizabeth R Hennessy, SLI Consortium, Hernán Palomino, Luis Carvajal-Carmona, Joris A Veltman, Jean-Baptiste Cazier, Zulema De Barbieri, Simon E Fisher, Dianne F Newbury
Publikováno v:
PLoS Genetics, Vol 11, Iss 6, p e1005336 (2015)
Externí odkaz:
https://doaj.org/article/d7cab7811b0a4a6083b32f24389027f8
Autor:
Pía Villanueva, Ron Nudel, Alexander Hoischen, María Angélica Fernández, Nuala H Simpson, Christian Gilissen, Rose H Reader, Lillian Jara, María Magdalena Echeverry, Clyde Francks, Gillian Baird, Gina Conti-Ramsden, Anne O'Hare, Patrick F Bolton, Elizabeth R Hennessy, SLI Consortium, Hernán Palomino, Luis Carvajal-Carmona, Joris A Veltman, Jean-Baptiste Cazier, Zulema De Barbieri, Simon E Fisher, Dianne F Newbury
Publikováno v:
PLoS Genetics, Vol 11, Iss 3, p e1004925 (2015)
Children affected by Specific Language Impairment (SLI) fail to acquire age appropriate language skills despite adequate intelligence and opportunity. SLI is highly heritable, but the understanding of underlying genetic mechanisms has proved challeng
Externí odkaz:
https://doaj.org/article/66247ded0cac4a7f9d30a78d361fe1aa
Autor:
Zehra Agha, Zafar Iqbal, Maleeha Azam, Humaira Ayub, Lisenka E L M Vissers, Christian Gilissen, Syeda Hafiza Benish Ali, Moeen Riaz, Joris A Veltman, Rolph Pfundt, Hans van Bokhoven, Raheel Qamar
Publikováno v:
PLoS ONE, Vol 9, Iss 11, p e112687 (2014)
Intellectual disability (ID) is a major health problem mostly with an unknown etiology. Recently exome sequencing of individuals with ID identified novel genes implicated in the disease. Therefore the purpose of the present study was to identify the
Externí odkaz:
https://doaj.org/article/5a496dc121a647b3a5b9d8be1fcafe62
Autor:
Erik J M Toonen, Christian Gilissen, Barbara Franke, Wietske Kievit, Agnes M Eijsbouts, Alfons A den Broeder, Simon V van Reijmersdal, Joris A Veltman, Hans Scheffer, Timothy R D J Radstake, Piet L C M van Riel, Pilar Barrera, Marieke J H Coenen
Publikováno v:
PLoS ONE, Vol 7, Iss 3, p e33199 (2012)
So far, there are no means of identifying rheumatoid arthritis (RA) patients who will fail to respond to tumour necrosis factor blocking agents (anti-TNF), prior to treatment. We set out to validate eight previously reported gene expression signature
Externí odkaz:
https://doaj.org/article/f82ca101767b4a1f92e2ffe26a4e189b
Autor:
Lisenka E L M Vissers, Timothy C Cox, A Murat Maga, Kieran M Short, Fenny Wiradjaja, Irene M Janssen, Fernanda Jehee, Debora Bertola, Jia Liu, Garima Yagnik, Kiyotoshi Sekiguchi, Daiji Kiyozumi, Hans van Bokhoven, Carlo Marcelis, Michael L Cunningham, Peter J Anderson, Simeon A Boyadjiev, Maria Rita Passos-Bueno, Joris A Veltman, Ian Smyth, Michael F Buckley, Tony Roscioli
Publikováno v:
PLoS Genetics, Vol 7, Iss 9, p e1002278 (2011)
The premature fusion of the paired frontal bones results in metopic craniosynostosis (MC) and gives rise to the clinical phenotype of trigonocephaly. Deletions of chromosome 9p22.3 are well described as a cause of MC with variably penetrant midface h
Externí odkaz:
https://doaj.org/article/af1e6f0904f7438a819309fe39440171
Autor:
Sanne P Smeekens, Theo S Plantinga, Frank L van de Veerdonk, Bas Heinhuis, Alexander Hoischen, Leo A B Joosten, Peter D Arkwright, Andrew Gennery, Bart Jan Kullberg, Joris A Veltman, Desa Lilic, Jos W M van der Meer, Mihai G Netea
Publikováno v:
PLoS ONE, Vol 6, Iss 12, p e29248 (2011)
We recently reported the genetic cause of autosomal dominant chronic mucocutaneous candidiasis (AD-CMC) as a mutation in the STAT1 gene. In the present study we show that STAT1 Arg274Trp mutations in the coiled-coil (CC) domain is the genetic cause o
Externí odkaz:
https://doaj.org/article/b0055083eef94cb782b734cc171798d8
Autor:
Evelyn N Kouwenhoven, Simon J van Heeringen, Juan J Tena, Martin Oti, Bas E Dutilh, M Eva Alonso, Elisa de la Calle-Mustienes, Leonie Smeenk, Tuula Rinne, Lilian Parsaulian, Emine Bolat, Rasa Jurgelenaite, Martijn A Huynen, Alexander Hoischen, Joris A Veltman, Han G Brunner, Tony Roscioli, Emily Oates, Meredith Wilson, Miguel Manzanares, José Luis Gómez-Skarmeta, Hendrik G Stunnenberg, Marion Lohrum, Hans van Bokhoven, Huiqing Zhou
Publikováno v:
PLoS Genetics, Vol 6, Iss 8, p e1001065 (2010)
Heterozygous mutations in p63 are associated with split hand/foot malformations (SHFM), orofacial clefting, and ectodermal abnormalities. Elucidation of the p63 gene network that includes target genes and regulatory elements may reveal new genes for
Externí odkaz:
https://doaj.org/article/244a4ff01e8f4721bc59c60b4e933d9a
Autor:
Jayne Y Hehir-Kwa, Nienke Wieskamp, Caleb Webber, Rolph Pfundt, Han G Brunner, Christian Gilissen, Bert B A de Vries, Chris P Ponting, Joris A Veltman
Publikováno v:
PLoS Computational Biology, Vol 6, Iss 4, p e1000752 (2010)
Copy number variants (CNVs) have recently been recognized as a common form of genomic variation in humans. Hundreds of CNVs can be detected in any individual genome using genomic microarrays or whole genome sequencing technology, but their phenotypic
Externí odkaz:
https://doaj.org/article/b1e8eb218cdc4f14be97291e55b4e2e5