Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome)-Reference-Cited by-同舟云学术

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome)

Published:2016-03-02 Issue:9 Volume:24 Page:1262-1267
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Micalizzi Alessia,Poretti Andrea,Romani Marta,Ginevrino Monia,Mazza Tommaso,Aiello Chiara,Zanni Ginevra,Baumgartner Bastian,Borgatti Renato,Brockmann Knut,Camacho Ana,Cantalupo Gaetano^ORCID,Haeusler Martin,Hikel Christiane,Klein Andrea,Mandrile Giorgia,Mercuri Eugenio,Rating Dietz,Romaniello Romina,Santorelli Filippo Maria,Schimmel Mareike,Spaccini Luigina,Teber Serap,von Moers Arpad,Wente Sarah,Ziegler Andreas,Zonta Andrea,Bertini Enrico,Boltshauser Eugen,Valente Enza Maria^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201619.pdf

Reference22 articles.

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2. Bosemani T, Orman G, Boltshauser E, Tekes A, Huisman TA, Poretti A : Congenital abnormalities of the posterior fossa. Radiographics 2015; 35: 200–220.

3. Jissendi-Tchofo P, Severino M, Nguema-Edzang B, Toure C, Soto Ares G, Barkovich AJ : Update on neuroimaging phenotypes of mid-hindbrain malformations. Neuroradiology 2015; 57: 113–138.

4. Poretti A, Boltshauser E, Doherty D : Cerebellar hypoplasia: differential diagnosis and diagnostic approach. Am J Med Genet C Semin Med Genet 2014; 166C: 211–226.

5. Boltshauser E, Scheer I, Huisman TA, Poretti A : Cerebellar cysts in children: a pattern recognition approach. Cerebellum 2015; 14: 308–316.

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