Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Autor: Ullmann Reinhard, Tinschert Sigrid, Prott Eva, Nagl Sandra, Maystadt Isabelle, Kohlhase Jürgen, Klapecki Jakub, Hoyer Juliane, Horn Denise, Hackmann Karl, Engels Hartmut, Ekici Arif B, Bijlsma Emilia K, Bader Ingrid, Albrecht Beate, Gregor Anne, Wohlleber Eva, Woods Geoffrey, Reis André, Rauch Anita, Zweier Christiane

Publikováno v: BMC Medical Genetics, Vol 12, Iss 1, p 106 (2011)

Abstract Background Heterozygous copy-number and missense variants in CNTNAP2 and NRXN1 have repeatedly been associated with a wide spectrum of neuropsychiatric disorders such as developmental language and autism spectrum disorders, epilepsy and schi

Externí odkaz: https://doaj.org/article/e80b3fa99fa04807993bdc10c3943cf3

Inhaled ciclesonide is efficacious and well tolerated in the treatment of severe equine asthma in a large prospective European clinical trial:Inhaled ciclesonide in horses with severe equine asthma

Autor: Pirie, Scott, Mueller, H-W., Engel, Odilo, Albrecht, Beate, Salis-Soglio, M. von

Publikováno v: Pirie, S, Mueller, H-W, Engel, O, Albrecht, B & Salis-Soglio, M V 2021, ' Inhaled ciclesonide is efficacious and well tolerated in the treatment of severe equine asthma in a large prospective European clinical trial : Inhaled ciclesonide in horses with severe equine asthma ', Equine Veterinary Journal . https://doi.org/10.1111/evj.13419

Background: Ciclesonide is a glucocorticoid prodrug, already registered for human use. Due to its mode of action and inhaled route of administration, it was considered an appropriate treatment option for horses with severe equine asthma. Although the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3094::183af601b1a6d8cd8b71ef634e485fcc
https://hdl.handle.net/20.500.11820/74b39168-3707-4742-bc25-baa33122a7fb

The maternal uniparental disomy of chromosome 6 (upd(6)mat) 'phenotype': result of placental trisomy 6 mosaicism?

Autor: Eggermann, Thomas, Oehl‐Jaschkowitz, Barbara, Dicks, Severin, Thomas, Wolfgang, Kanber, Deniz, Albrecht, Beate, Begemann, Matthias, Kurth, Ingo, Beygo, Jasmin, Buiting, Karin

Publikováno v: Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine 5(6), 668-677 (2017). doi:10.1002/mgg3.324

Molecular genetics & genomic medicine 5(6), 668-677 (2017). doi:10.1002/mgg3.324
Published by Wiley, Chichester [u.a.]

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c71010fb0cf63d406e6eafbd5c99e0e3
http://europepmc.org/articles/PMC5702562

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IGF2/H19 hypomethylation in Silver–Russell syndrome and isolated hemihypoplasia.

Autor: Zeschnigk, Michael¹ Michael.Zeschnigk@uni-due.de, Albrecht, Beate¹, Buiting, Karin¹, Kanber, Deniz¹, Eggermann, Thomas², Binder, Gerhard³, Gromoll, Jörg⁴, Prott, Eva-Christina⁵, Seland, Saskia¹, Horsthemke, Bernhard¹

Publikováno v: European Journal of Human Genetics. Mar2008, Vol. 16 Issue 3, p328-334. 7p. 1 Diagram, 2 Charts.