Literature DB >> 15368504

Search for loss of heterozygosity and mutation analysis of KRIT1 gene in CCM patients.

Valeria Marini, Loretta Ferrera, Francesca Pigatto, Paola Origone, Cecilia Garrè, Alessandra Dorcaratto, Giuseppe Viale, Francesco Alberti, Cristina Mareni.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2004        PMID： 15368504     DOI： 10.1002/ajmg.a.30122

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


× No keyword cloud information.
  9 in total

Review 1.  Genetics of cerebral cavernous malformations: current status and future prospects.

Authors:  H Choquet; L Pawlikowska; M T Lawton; H Kim
Journal:  J Neurosurg Sci       Date:  2015-04-22       Impact factor: 2.279

Review 2.  Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling.

Authors:  Stefanie Spiegler; Matthias Rath; Christin Paperlein; Ute Felbor
Journal:  Mol Syndromol       Date:  2018-01-25

Review 3.  Genetics of cerebral cavernous malformations.

Authors:  Nicholas W Plummer; Jon S Zawistowski; Douglas A Marchuk
Journal:  Curr Neurol Neurosci Rep       Date:  2005-09       Impact factor: 5.081

Review 4.  Cerebral cavernous malformation: new molecular and clinical insights.

Authors:  N Revencu; M Vikkula
Journal:  J Med Genet       Date:  2006-03-29       Impact factor: 6.318

5.  Cerebral cavernous malformations: somatic mutations in vascular endothelial cells.

Authors:  Judith Gault; Issam A Awad; Peter Recksiek; Robert Shenkar; Robert Breeze; Michael Handler; Bette K Kleinschmidt-DeMasters
Journal:  Neurosurgery       Date:  2009-07       Impact factor: 4.654

6.  Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.

Authors:  Amy L Akers; Eric Johnson; Gary K Steinberg; Joseph M Zabramski; Douglas A Marchuk
Journal:  Hum Mol Genet       Date:  2008-12-16       Impact factor: 6.150

7.  Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene.

Authors:  C Bonnet; M-J Grégoire; M Vibert; E Raffo; B Leheup; P Jonveaux
Journal:  J Hum Genet       Date:  2008-07-24       Impact factor: 3.172

8.  A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells.

Authors:  Axel Pagenstecher; Sonja Stahl; Ulrich Sure; Ute Felbor
Journal:  Hum Mol Genet       Date:  2008-12-16       Impact factor: 6.150

9.  Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation.

Authors:  Rosalia D'Angelo; Valeria Marini; Carmela Rinaldi; Paola Origone; Alessandra Dorcaratto; Maria Avolio; Luca Goitre; Marco Forni; Valeria Capra; Concetta Alafaci; Cristina Mareni; Cecilia Garrè; Placido Bramanti; Antonina Sidoti; Saverio Francesco Retta; Aldo Amato
Journal:  Brain Pathol       Date:  2010-10-04       Impact factor: 6.508
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.