Zobrazeno 1 - 9
of 9
pro vyhledávání: '"E J, Smeets"'
Autor:
M. R. F. Reijnders, M. Kousi, G. M. van Woerden, M. Klein, J. Bralten, G. M. S. Mancini, T. van Essen, M. Proietti-Onori, E. E. J. Smeets, M. van Gastel, A. P. A. Stegmann, S. J. C. Stevens, S. H. Lelieveld, C. Gilissen, R. Pfundt, P. L. Tan, T. Kleefstra, B. Franke, Y. Elgersma, N. Katsanis, H. G. Brunner
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-12 (2017)
The mTOR pathway is a key regulator of normal brain development. Here, the authors identify de novo mutations in RHEB, an mTOR activator protein, in patients with intellectual disability associated with megalencephaly and find a role for RHEB in regu
Externí odkaz:
https://doaj.org/article/ea6460e697d849ef87cfd70a3e73e744
Publikováno v:
Molecular Syndromology. 2:113-127
Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75410008ce342ebba135907d11a12b5d
https://doi.org/10.1159/000337637
https://doi.org/10.1159/000337637
Autor:
Paul R, van Urk, Mariëll P, van den Berg, Barend J, van Royen, Eric E J, Smeets, Leopold M G, Curfs
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 158(3)
Rett syndrome is caused by mutations in the X-linked MECP2 gene, encoding MeCP2 protein. This protein is essential for the transcription and repression of other genes and is important for the development and plasticity of the central nervous system.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fe9d08a0151f004bacc74bee7d4fbbe9
https://pubmed.ncbi.nlm.nih.gov/24423488
https://pubmed.ncbi.nlm.nih.gov/24423488
Autor:
N S J, Halbach, E E J, Smeets, C, Steinbusch, M A, Maaskant, D, van Waardenburg, L M G, Curfs
Publikováno v:
Clinical genetics. 84(3)
Little is known about the aging process of people with specific syndromes, like Rett syndrome (RTT). Recognition of the clinical and behavioral characteristics of the adult RTT is needed in order to improve future management of the RTT girl and couns
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c6b65158e710573d1f9bf981fed56d06
https://pubmed.ncbi.nlm.nih.gov/23167724
https://pubmed.ncbi.nlm.nih.gov/23167724
Autor:
Giorgio, Pini, Stefania, Bigoni, Ingegerd Witt, Engerström, Olga, Calabrese, Beatrice, Felloni, Maria Flora, Scusa, Pietro, Di Marco, Paolo, Borelli, Ubaldo, Bonuccelli, Peter O O, Julu, Jytte Bieber, Nielsen, Bodil, Morin, Stig, Hansen, Giuseppe, Gobbi, Paola, Visconti, Maria, Pintaudi, Veneselli, Edvige, Anna, Romanelli, Fabrizio, Bianchi, Manuela, Casarano, Roberta, Battini, Giovanni, Cioni, Francesca, Ariani, Alessandra, Renieri, Alberto, Benincasa, Robert S, Delamont, Michele, Zappella, Eric E J, Smeets
Publikováno v:
Neuropediatrics, 43(1), 37-43. Georg Thieme Verlag
Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively females. The Hanefeld variant, or early-onset seizure variant, has been associated with mutations in CDKL5 gene.In recent years more than 60 patients with mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0409f97ebac9c4fbd6e76388ad1f213
http://hdl.handle.net/11568/202217
http://hdl.handle.net/11568/202217
Publikováno v:
Genetic counseling (Geneva, Switzerland). 20(4)
The velo-cardio-facial syndrome: the spectrum of psychiatric problems and cognitive deterioration at adult age: Deletion 22q11.2 syndrome, or the velo-cardio-facial syndrome (VCFS), is a syndrome with a known but varied clinical and behavioral phenot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f61baa31bf4c37a700f080ab531264b4
https://pubmed.ncbi.nlm.nih.gov/20162865
https://pubmed.ncbi.nlm.nih.gov/20162865
Autor:
U, Moog, Y H J M, Arens, J C M, van Lent-Albrechts, P E A, Huijts, E E J, Smeets, C T R M, Schrander-Stumpel, J J M, Engelen
Publikováno v:
Clinical genetics. 68(5)
Subtelomeric chromosome aberrations: still a lot to learn.Cryptic subtelomeric chromosome aberrations are a significant cause of mental retardation (MR). More than 4000 patients have been investigated, and the mean overall prevalence of subtelomeric
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a6b8e071430097fca7777537a02d2bc6
https://pubmed.ncbi.nlm.nih.gov/16207207
https://pubmed.ncbi.nlm.nih.gov/16207207
Autor:
Y M, Hoedemaekers, M J K, De Kleine, M J P L, Stevens-Kroef, E E J, Smeets, C T R M, Schrander-Stumpel
Publikováno v:
Genetic counseling (Geneva, Switzerland). 15(3)
We report a prematurely born patient with a 68,XX karyotype. She presented with syndactyly of 2nd and 3rd toes, minor facial features, microcephaly, slender hands, bicuspid aortic valve, patent ductus arteriosus and hypotonia. Comparison with other r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4c7e1a26c8473742fd89126526882e08
https://pubmed.ncbi.nlm.nih.gov/15521104
https://pubmed.ncbi.nlm.nih.gov/15521104
Autor:
J T, Lutgerink, E, van den Akker, D, Pachen, E J, Smeets, P, van Dijk, J M, Aubry, H, Joenje, M V, Lafleur, J, Retèl
Publikováno v:
IARC scientific publications. (124)
The DNA lesions induced by free 1O2 and the biological and mutagenic consequences of 1O2-induced DNA damage have been studied. Using anion exchange HPLC, reverse-phase HPLC with electrochemical detection and 32P-postlabelling methods, we have shown t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e886163dc5a60cf9a323b365e0c32f99
https://pubmed.ncbi.nlm.nih.gov/8225474
https://pubmed.ncbi.nlm.nih.gov/8225474