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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Autor: Tjitske Kleefstra, Katherine G. Keating, Marie Shaw, Lisenka E.L.M. Vissers, Sascha Vermeer, Jane Juusola, Barbara K. Burton, Margaret H. Harr, Hanka Venselaar, Kevin A. Strauss, Angela Myers, Antonie D. Kline, Karlla W. Brigatti, Koen L.I. van Gassen, Wendy K. Chung, E. Smeets, Willemijn M. Wissink-Lindhout, Usha Kini, Katrina Tatton-Brown, Alexander Hoischen, Amy S. Kimball, C Jensen, Hilde Van Esch, Christian Gilissen, Maaike Vreeburg, Patrick Reed, Perciliz L. Tan, M Bienek, Diana Baralle, Julie McLaughlin, Joyce Fox, Stefan A. Haas, Nicholas Katsanis, Tom S. Koemans, Jolanda H. Schieving, Janneke H M Schuurs-Hoeijmakers, Jennifer Norman, Vera M. Kalscheuer, Sally Ann Lynch, Sarju G. Mehta, Anke Van Dijck, Megan T. Cho, Alison Male, Erik C. Madsen, Katrina Haude, Marvin R. Natowicz, Pradeep Vasudevan, Jacques C. Giltay, Kyle Retterer, Alison Ross, Kristin Lindstrom, Han G. Brunner, Katherine H. Kim, Michael Parker, A. Micheil Innes, Bart Loeys, R. Frank Kooy, Joel Charrow, Kristin G. Monaghan, Eric Haan, Michael C. Kruer, Margot R.F. Reijnders, Andreas Rump, Rolph Pfundt, Lot Snijders Blok, Quinn Stein, Jozef Gecz, Audrey Foster-Barber, Elaine H. Zackai, Karin Oberndorff, Kees E. P. van Roozendaal, Alan Fryer, Ruth Newbury-Ecob, Nataliya Di Donato, Kate Chandler, Alex Henderson, Céline Helsmoortel, Igor Pediaditakis, Bregje W.M. van Bon, Eden Haverfield, Corrado Romano, Sybe Dijkstra, Evan E. Eichler, Connie T.R.M. Stumpel, Hilary Racher

Publikováno v: The American journal of human genetics
American Journal of Human Genetics, 97, 2, pp. 343-52
American Journal of Human Genetics, 97(2), 343. Cell Press
American Journal of Human Genetics, 97(2), 343-352. Cell Press
Europe PubMed Central
The American Journal of Human Genetics
American Journal of Human Genetics, 97, 343-52
American Journal of Human Genetics, 97(2), 343-352. CELL PRESS
American journal of human genetics, vol 97, iss 2

Contains fulltext : 153453.pdf (Publisher’s version ) (Open Access) Intellectual disability (ID) affects approximately 1%-3% of humans with a gender bias toward males. Previous studies have identified mutations in more than 100 genes on the X chrom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a58159e12e3e796ea0a15f48849faa89
https://hdl.handle.net/10067/1277610151162165141

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Variants in CUL4B are associated with cerebral malformations

Publikováno v: Human Mutation, 36, 106-17
Human Mutation
Human Mutation, 2015, 36 (1), pp.106-117. ⟨10.1002/humu.22718⟩
Human mutation, vol 36, iss 1
Europe PubMed Central
Human mutation, 36(1), 106-117. Wiley-Liss Inc.
Human Mutation, Wiley, 2015, 36 (1), pp.106-117. ⟨10.1002/humu.22718⟩
Human Mutation, Wiley, 2015, 36 (1), pp.106-117. 〈10.1002/humu.22718〉
Human Mutation, 36, 1, pp. 106-17
Human Mutation, 36(1), 106-117. Wiley

Contains fulltext : 154408.pdf (Publisher’s version ) (Open Access) Variants in cullin 4B (CUL4B) are a known cause of syndromic X-linked intellectual disability. Here, we describe an additional 25 patients from 11 families with variants in CUL4B.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c46c4698dc14dcd72546c945bd16a12
http://hdl.handle.net/2066/154408

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Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function

Autor: Vera M. Kalscheuer, Marjolein H. Willemsen, Hao Hu, Stefan A. Haas, Wei Ba, Nael Nadif Kasri, Willemijn M. Wissink-Lindhout, Arjan P.M. de Brouwer, Tjitske Kleefstra, M Bienek, Hans van Bokhoven, Lisenka E.L.M. Vissers

Publikováno v: Journal of Medical Genetics, 51, 7, pp. 487-94
Journal of Medical Genetics
Journal of Medical Genetics, 51, 487-94

Item does not contain fulltext INTRODUCTION: Kinesin superfamily (KIF) genes encode motor proteins that have fundamental roles in brain functioning, development, survival and plasticity by regulating the transport of cargo along microtubules within a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff1fdd93daad30304341a96771a47648
https://doi.org/10.1136/jmedgenet-2013-102182

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ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

Publikováno v: American journal of human genetics, 92(5), 681-695. Cell Press
The American Journal of Human Genetics

Arthrogryposis multiplex congenita (AMC) is caused by heterogeneous pathologies leading to multiple antenatal joint contractures through fetal akinesia. Understanding the pathophysiology of this disorder is important for clinical care of the affected

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f10f08495c33c0ace1972ba567e829a
https://pure.amc.nl/en/publications/zc4h2-mutations-are-associated-with-arthrogryposis-multiplex-congenita-and-intellectual-disability-through-impairment-of-central-and-peripheral-synaptic-plasticity(518c03ac-36ee-47d8-bbb3-f135bbfeb982).html

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Akademický článek

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HUGO J

Autor: Hugues Richard, Klaus Wrogemann, Stefan A. Haas, Hao Hu, Wei-Wei Chen, Vera M. Kalscheuer, Jamel Chelly, Corinna Menzel, Martine Raynaud, Hans van Bokhoven, M Bienek, Andreas Tzschach, Guy Froyen, Hans-Hilger Ropers

Publikováno v: The Hugo Journal, 3, 83-83
The Hugo Journal
The Hugo Journal, 3, 1-4, pp. 83-83

Massive parallel sequencing has revolutionized the search for pathogenic variants in the human genome, but for routine diagnosis, re-sequencing of the complete human genome in a large cohort of patients is still far too expensive. Recently, novel gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7c4ba31b05270e274500f86d45e2840
http://hdl.handle.net/2066/185592

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A Seed-Selection Method to Increase Defect Coverage for LFSR-Reseeding-Based Test Compression

Autor: Krishnendu Chakrabarty, Zhanglei Wang, M. Bienek

Publikováno v: European Test Symposium

LFSR reseeding forms the basis for many test compression solutions. A seed can be computed for each test cube by solving a system of linear equations based on the feedback polynomial of the LFSR. Despite the availability of numerous LFSR-reseeding-ba

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8f90e93eb397ddce322caa7111408c4a
https://doi.org/10.1109/ets.2007.8

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