Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Vera Kalscheuer"'
Autor:
Jonathan Zapata, Edoardo Moretto, Saad Hannan, Luca Murru, Anna Longatti, Davide Mazza, Lorena Benedetti, Matteo Fossati, Christopher Heise, Luisa Ponzoni, Pamela Valnegri, Daniela Braida, Mariaelvina Sala, Maura Francolini, Jeffrey Hildebrand, Vera Kalscheuer, Francesca Fanelli, Carlo Sala, Bernhard Bettler, Silvia Bassani, Trevor G. Smart, Maria Passafaro
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-17 (2017)
Mutations in the gene encoding Shrm4 are associated with epilepsy and intellectual disability. The authors show that Shrm4 interacts with GABABreceptors and regulates tonic inhibition in the hippocampus, and knockdown of Shrm4 in rats leads to anxiet
Externí odkaz:
https://doaj.org/article/4624279b47d64159ad6a26ab96fc80e0
Autor:
Jérémie Courraud, Camille Engel, Angélique Quartier, Nathalie Drouot, Ursula Houessou, Damien Plassard, Arthur Sorlin, Elise Brischoux-Boucher, Lionel Van Maldergem, Evan Gouy, Massimiliano Rossi, Patrick Edery, Audrey Putoux, Brigitte Gilbert-Dussardier, Vera Kalscheuer, Jean-Louis Mandel, Amélie Piton
Mutations in the PQBP1 gene (polyglutamine-binding protein 1) are responsible for a syndromic X-linked form of intellectual disability (XLID), the Renpenning syndrome. PQBP1 encodes a protein that plays a role in the regulation of gene expression, sp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2462e31a74739d29c0b7391b342178b0
https://doi.org/10.1101/2022.05.29.493091
https://doi.org/10.1101/2022.05.29.493091
Autor:
Jonathan, Zapata, Edoardo, Moretto, Saad, Hannan, Luca, Murru, Anna, Longatti, Davide, Mazza, Lorena, Benedetti, Matteo, Fossati, Christopher, Heise, Luisa, Ponzoni, Pamela, Valnegri, Daniela, Braida, Mariaelvina, Sala, Maura, Francolini, Jeffrey, Hildebrand, Vera, Kalscheuer, Francesca, Fanelli, Carlo, Sala, Bernhard, Bettler, Silvia, Bassani, Trevor G, Smart, Maria, Passafaro
Publikováno v:
Nature Communications
Shrm4, a protein expressed only in polarized tissues, is encoded by the KIAA1202 gene, whose mutations have been linked to epilepsy and intellectual disability. However, a physiological role for Shrm4 in the brain is yet to be established. Here, we r
Autor:
Maria, Arvio, Anju K, Philips, Minna, Ahvenainen, Mirja, Somer, Vera, Kalscheuer, Irma, Järvelä
Publikováno v:
Duodecim; laaketieteellinen aikakauskirja. 130(21)
Normal function of the thyroid gland is the cornerstone of a child's mental development and physical growth. We describe a Finnish family, in which the diagnosis of three brothers became clear after investigations that lasted for more than 30 years.
Autor:
va Morava, Oliver Bartsch, M??rta Czak??, Arleta Frensel, Vera Kalscheuer, Judit K??rteszi, Gy??rgy Kosztol??nyi
Publikováno v:
Clinical Dysmorphology. 12:123-127
Autor:
Hao Hu, Klaus Wrogemann, Vera Kalscheuer, Andreas Tzschach, Hugues Richard, Stefan A. Haas, Corinna Menzel, Melanie Bienek, Guy Froyen, Martine Raynaud, Hans Van Bokhoven, Jamel Chelly, Hilger Ropers, Wei Chen
Publikováno v:
The HUGO Journal
Hugo J
HUGO Journal 3 (1-4): 41-49.
Hugo J
HUGO Journal 3 (1-4): 41-49.
UNLABELLED: 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. Recentl
Autor:
Alina T, Midro, Barbara, Panasiuk, Zeynep, Tümer, Paweł, Stankiewicz, Asli, Silahtaroglu, James R, Lupski, Zuzana, Zemanova, Beata, Stasiewicz-Jarocka, Ewa, Hubert, Eugeniusz, Tarasów, Waldemar, Famulski, Barbara, Zadrozna-Tołwińska, Ewa, Wasilewska, Marie, Kirchhoff, Vera, Kalscheuer, Kyra, Michalova, Niels, Tommerup
Publikováno v:
American journal of medical genetics. Part A. (2)
The phenotype of Gorlin-Goltz syndrome or basal cell nevus syndrome (BCNS, #109400, OMIM), a Mendelian trait due to PTCH mutations has been reported in a few cases of interstitial deletion of chromosome 9q. We present an 11-year-old girl with clinica
Autor:
Eva, Morava, Oliver, Bartsch, Márta, Czakó, Arleta, Frensel, Vera, Kalscheuer, Judit, Kárteszi, György, Kosztolányi
Publikováno v:
Clinical dysmorphology. 12(2)
We report a 14-month-old girl with submucous cleft palate, resolving mild hydrocephalus, severe hypotonia and joint contractures. The finding of extreme hydrocephalus, cleft palate and club feet in a fetus of the mother's previous pregnancy suggested
Autor:
Denise, Horn, Heidemarie, Neitzel, Holger, Tönnies, Vera, Kalscheuer, Jürgen, Kunze, Georg Klaus, Hinkel, Oliver, Bartsch
Publikováno v:
American journal of medical genetics. Part A. (3)
We report three generation family that includes two patients with severe mental retardation and additional anomalies who have been studied, clinically, cytogenetically, and molecular cytogenetically. A clinical diagnosis could not be made in the prop