Literature DB >> 18774316

Autosomal recessive primary microcephalies (MCPH).

Angela M Kaindl1, Sandrine Passemard, Pierre Gressens.   

Abstract

Entities:  

Mesh：

Year:  2008        PMID： 18774316     DOI： 10.1016/j.ejpn.2008.07.010

Source DB:  PubMed          Journal:  Eur J Paediatr Neurol        ISSN： 1090-3798            Impact factor:   3.140


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  3 in total

1.  Citron Kinase Deficiency Leads to Chromosomal Instability and TP53-Sensitive Microcephaly.

Authors:  Federico Tommaso Bianchi; Chiara Tocco; Gianmarco Pallavicini; Yifan Liu; Fiammetta Vernì; Chiara Merigliano; Silvia Bonaccorsi; Nadia El-Assawy; Lorenzo Priano; Marta Gai; Gaia Elena Berto; Alessandra Maria Adelaide Chiotto; Francesco Sgrò; Alessia Caramello; Laura Tasca; Ugo Ala; Francesco Neri; Salvatore Oliviero; Alessandro Mauro; Stephan Geley; Maurizio Gatti; Ferdinando Di Cunto
Journal:  Cell Rep       Date:  2017-02-14       Impact factor: 9.423

2.  Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation.

Authors:  Lina Issa; Katrin Mueller; Katja Seufert; Nadine Kraemer; Henning Rosenkotter; Olaf Ninnemann; Michael Buob; Angela M Kaindl; Deborah J Morris-Rosendahl
Journal:  Orphanet J Rare Dis       Date:  2013-04-15       Impact factor: 4.123

3.  Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.

Authors:  Ethiraj Ravindran; Ramona Jühlen; Carlos H Vieira-Vieira; Thuong Ha; Yuval Salzberg; Boris Fichtman; Lena Luise-Becker; Nuno Martins; Sylvie Picker-Minh; Paraskevi Bessa; Peer Arts; Matilda R Jackson; Ajay Taranath; Benjamin Kamien; Christopher Barnett; Na Li; Victor Tarabykin; Gisela Stoltenburg-Didinger; Amnon Harel; Matthias Selbach; Achim Dickmanns; Birthe Fahrenkrog; Hao Hu; Hamish Scott; Angela M Kaindl
Journal:  Hum Mol Genet       Date:  2021-11-01       Impact factor: 5.121
  3 in total

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