Literature DB >> 5690407

Familial dysgenesis of the vermis: a syndrome of hyperventilation, abnormal eye movements and retardation.

M Joubert, J J Eisenring, F Andermann.   

Abstract

Entities:  

Mesh：

Year:  1968        PMID： 5690407

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


× No keyword cloud information.
  28 in total

Review 1.  Joubert Syndrome and related disorders.

Authors:  Francesco Brancati; Bruno Dallapiccola; Enza Maria Valente
Journal:  Orphanet J Rare Dis       Date:  2010-07-08       Impact factor: 4.123

2.  Fusion of the cerebellar hemispheres ventral to the brainstem: a rare hindbrain-related malformation.

Authors:  Ibrahim Erol Sandalcioglu; Thomas Gasser; Johannes Anthonius Petrus van de Nes; Udo Menken; Dietmar Stolke; Helmut Wiedemayer
Journal:  Childs Nerv Syst       Date:  2004-12-23       Impact factor: 1.475

3.  TMEM67 mutations found in a case of Joubert syndrome with renal hypodysplasia.

Authors:  Yumiko Komatsu; Toshifumi Suzuki; Yoshinori Tsurusaki; Noriko Miyake; Naomichi Matsumoto; Kunimasa Yan
Journal:  CEN Case Rep       Date:  2016-01-21

4.  Late-onset hydrocephalus in a child with Joubert syndrome: a case report.

Authors:  M K Fehrenbach; U Nestler; J Meixensberger; M K Bernhard; A Merkenschlager; S Weise; M Krause
Journal:  Childs Nerv Syst       Date:  2018-03-05       Impact factor: 1.475

5.  [MR imaging in congenital disorders of the brain].

Authors:  B Ertl-Wagner; C Rummeny; H von Voss; M Reiser
Journal:  Radiologe       Date:  2005-09       Impact factor: 0.635

6.  CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

Authors:  Soumaya Mougou-Zerelli; Sophie Thomas; Emmanuelle Szenker; Sophie Audollent; Nadia Elkhartoufi; Candice Babarit; Stéphane Romano; Rémi Salomon; Jeanne Amiel; Chantal Esculpavit; Marie Gonzales; Estelle Escudier; Bruno Leheup; Philippe Loget; Sylvie Odent; Joëlle Roume; Marion Gérard; Anne-Lise Delezoide; Suonavy Khung; Sophie Patrier; Marie-Pierre Cordier; Raymonde Bouvier; Jéléna Martinovic; Marie-Claire Gubler; Nathalie Boddaert; Arnold Munnich; Férechté Encha-Razavi; Enza Maria Valente; Ali Saad; Sophie Saunier; Michel Vekemans; Tania Attié-Bitach
Journal:  Hum Mutat       Date:  2009-11       Impact factor: 4.878

7.  Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

Authors:  Lesley C Keeler; Sarah E Marsh; Esther P Leeflang; Christopher G Woods; László Sztriha; Lihadh Al-Gazali; Aithala Gururaj; Joseph G Gleeson
Journal:  Am J Hum Genet       Date:  2003-08-13       Impact factor: 11.025

8.  Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders.

Authors:  S N Saleem; M S Zaki
Journal:  AJNR Am J Neuroradiol       Date:  2009-11-26       Impact factor: 3.825

9.  Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies.

Authors:  Jennifer E Doering; Kelly Kane; Yi-Chun Hsiao; Cong Yao; Bingxing Shi; Amber D Slowik; Bakul Dhagat; Delisha D Scott; Jeffrey G Ault; Patrick S Page-McCaw; Russell J Ferland
Journal:  J Comp Neurol       Date:  2008-11-10       Impact factor: 3.215

Review 10.  The role of primary cilia in neuronal function.

Authors:  Jeong Ho Lee; Joseph G Gleeson
Journal:  Neurobiol Dis       Date:  2010-01-22       Impact factor: 5.996
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.