ARID1B-related disorder in 87 adults: Natural history and self-sustainability

Autor: P.J. van der Sluijs, M. Gösgens, A.J.M. Dingemans, P. Striano, A. Riva, C. Mignot, A. Faudet, G. Vasileiou, M. Walther, S.A. Schrier Vergano, M. Alders, F.S. Alkuraya, I. Alorainy, H.S. Alsaif, B. Anderlid, I. Bache, I. van Beek, M. Blanluet, B.W. van Bon, T. Brunet, H. Brunner, M.L. Carriero, P. Charles, N. Chatron, E. Coccia, C. Dubourg, R.K. Earl, E.E. Eichler, L. Faivre, N. Foulds, C. Graziano, A.M. Guerrot, M.O. Hashem, S. Heide, D. Heron, S.E. Hickey, S.M.J. Hopman, A. Kattentidt-Mouravieva, J. Kerkhof, J.S. Klein Wassink-Ruiter, E.C. Kurtz-Nelson, K. Kušíková, M. Kvarnung, F. Lecoquierre, G.S. Leszinski, L. Loberti, P.L. Magoulas, F. Mari, I. Maystadt, G. Merla, J.M. Milunsky, S. Moortgat, G. Nicolas, M.O.’ Leary, S. Odent, J.R. Ozmore, K. Parbhoo, R. Pfundt, M. Piccione, A.M. Pinto, B. Popp, A. Putoux, H.L. Rehm, A. Reis, A. Renieri, J.A. Rosenfeld, M. Rossi, E. Salzano, P. Saugier-Veber, M. Seri, G. Severi, F.M. Sonmez, G. Strobl-Wildemann, K.E. Stuurman, E. Uctepe, H. Van Esch, G. Vitetta, B.B.A. de Vries, D. Wahl, T. Wang, P. Zacher, K.R. Heitink, F.G. Ropers, D. Steenbeek, T. Rybak, G.W.E. Santen

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101873- (2024)

Purpose: ARID1B is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with ARID1B-related disorder have been described, which limits our understanding of the disease’s natural history and

Externí odkaz: https://doaj.org/article/a69068b027154c3c8fb3c081422af42c

The karyology of the Common shrew, Sorex araneus Linné, 1758 (Insectivora, Soricidae) in southwestern Germany

Autor: H. Brünner

Publikováno v: Journal of Zoological Systematics and Evolutionary Research. 29:73-81

Presented is the karyotype of Sorex araneus from 4 trapping sites in southwestern Germany. From this species nearly 20 chromosomal races have so far been described. In the study area autosomal numbers of 2na= 22–24 were recorded. The characteristic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dc0cbf969f5b3ca08cc2229fa73cd14e
https://doi.org/10.1111/j.1439-0469.1991.tb00445.x

[Effect of transparent yellow and orange colored contact lenses on color discrimination in the yellow color range]

Autor: M, Schürer, A, Walter, H, Brünner, A, Langenbucher

Publikováno v: Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft. 112(8)

Colored transparent filters cause a change in color perception and have an impact on the perceptible amount of different colors and especially on the ability to discriminate between them. Yellow or orange tinted contact lenses worn to enhance contras

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ea585d5858df191c9959c39b1d7c3c35
https://pubmed.ncbi.nlm.nih.gov/26377101

Title Pages / Contents

Autor: H.A. Wichman, A. Bardhan, D.A. Parish, M. Rábová, R. Wimmer, A. Banaszek, C.A. Redi, S. Garagna, Terence J. Robinson, D.W. Burt, T.L. Lear, C. Tease, Z. Taib, H. Neitzel, S. Henschel, B.A. Reutter, L. Granjon, W. Vogel, R.M. Jones, B. Sicard, S. Fedyk, E. Sjöstrand, Patricia C. M. O’Brien, J.S. Heslop-Harrison, H. Guedes-Pinto, P.G. Johnston, F. Ståhl, S. Santos, Polina L. Perelman, J.-F. Ducroz, N.B. Rubtsov, R. Chaves, W. Just, T. Raudsepp, H. Brünner, M. Hakhverdyan, N. Ihara, S. Röttger, W. Feichtinger, B.M.N. Wallace, Å. Sjöling, I. Nanda, N. Bogdanchikova, W.R. Harrison, P.M. Mirol, R. Visbal García, C. Mais, S.-I. Kawada, T. Sharma, M. Bahadur, T. Ashley, M. Lombard, V. Aniskin, Natalya A. Serdukova, E. Lecompte, P. Vise, J. Hausser, M.A. Hultén, P. Mariani, G. Dobigny, H. Kühl, A.P. Singh, J.A. Marshall Graves, J. Britton-Davidian, V. Volobouev, R.J. Baker, M.J. Puertas, N.V. Vorobieva, V. Kalscheuer, J.J. Bull, K.M. Mendoza, U. Arnason, L.E. Jensen, P. Gómez-Fabre, C.J. Metcalfe, M. Schmid, T.V. Karamysheva, Jan Zima, M. Morgan-Richards, G. Levan, W. Chetnicki, A. Janke, Y.M. Borissov, O.V. Andreenkova, P. Nová, H. Hameister, K.M. Reed, F. Yang, M.D. Giménez, J.B. Searle, W. Schempp, K. Klinga-Levan, E. Capanna, M.D.B. Eldridge, K. Belkhir, D.A. Martí, T. Haaf, A. Fernández Badillo, A.L. Barlow, F. Adega, Larisa S. Biltueva, B.P. Chowdhary, U. Fiedorczuk, J. Catalan, Alexander S. Graphodatsky, C.A. Everett, V.T. Volobouev, B.S. Milne, F.A. Ponce de León, R. Bellavia, K. Sperling, N.O. Bianchi, A. Behboudi, B. Schreiner, C.W. Beattie, G.L. Bennett, I. Reisert, M.A. Ferguson-Smith, N. Lugon-Moulin, V.M. Aniskin, K.A. Szałaj, C.J. Bidau, M. Corti, B. Fu, M. Zuccotti, C. Steinlein, M.N. Bochkaerev, A. Baumstark, R. Castiglia, Pavel M. Borodin, Y. Sugimoto

Publikováno v: Cytogenetic and Genome Research. 96:1-6

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e5c36792171c6573e9246e358a71090f
https://doi.org/10.1159/000066027

Contents Vol. 116, 2007

Autor: J.P.M. Camacho, B. Sicard, A.L. Nestor, L.K. Park, L.A. Edwards, D. Allison, H. Brünner, V.M. Aniskin, J.V. Podd, B. Dutrillaux, J. Cabrero, A. Soler, K. Christensen, J. Vahala, J. Rubes, R.E. Rowland, M. Teruel, O. Distl, R.B. Phillips, G. Dobigny, E. Pagacova, D. Di Berardino, H. Cernohorska, F.D. Carmona, M. Alsius, J. DeKoning, M.R. Morasch, P. Basset, A. Sánchez, J. Hausser, A.G. Zamani, I. Madrigal, M. Obon, J. Mercier, K. Bi, E. Margarit, O. Kopecna, S. Mömke, C. Morales, A.M. Dutrillaux, R. Anistoroaei, S. Kubickova, R.H. Devlin, S.L. Hollopeter, H.G. Durakbasi-Dursun, S.-I. Matsui, A. Acar, V. Volobouev, J. Fu, L. Granjon, J.P. Bogart, G. Yannic, J. Bruguera

Publikováno v: Cytogenetic and Genome Research. 116:327-329

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::324ccdaaada78a4a163830833ae2f6a3
https://doi.org/10.1159/000101788