Literature DB >> 29642246

A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.

I Maini1, E Farnetti2, S G Caraffi1, I Ivanovski1, M L De Bernardi1, C Gelmini1, M Pollazzon1, S Rosato1, S Laurie3, L Matalonga3, C Baldo4, L Garavelli1.   

Abstract

Entities:  

Mesh:

Substances:

Year:  2018        PMID: 29642246     DOI: 10.1055/s-0038-1641722

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN: 0174-304X            Impact factor:   1.947


× No keyword cloud information.
  3 in total

1.  CRL4AMBRA1 is a master regulator of D-type cyclins.

Authors:  Daniele Simoneschi; Gergely Rona; Nan Zhou; Yeon-Tae Jeong; Shaowen Jiang; Giacomo Milletti; Arnaldo A Arbini; Alfie O'Sullivan; Andrew A Wang; Sorasicha Nithikasem; Sarah Keegan; Yik Siu; Valentina Cianfanelli; Emiliano Maiani; Francesca Nazio; Francesco Cecconi; Francesco Boccalatte; David Fenyö; Drew R Jones; Luca Busino; Michele Pagano
Journal:  Nature       Date:  2021-04-14       Impact factor: 49.962

2.  The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.

Authors:  Steven Laurie; Davide Piscia; Leslie Matalonga; Alberto Corvó; Marcos Fernández-Callejo; Carles Garcia-Linares; Carles Hernandez-Ferrer; Cristina Luengo; Inés Martínez; Anastasios Papakonstantinou; Daniel Picó-Amador; Joan Protasio; Rachel Thompson; Raul Tonda; Mònica Bayés; Gemma Bullich; Jordi Camps-Puchadas; Ida Paramonov; Jean-Rémi Trotta; Angel Alonso; Marcella Attimonelli; Christophe Béroud; Virginie Bros-Facer; Orion J Buske; Andrés Cañada-Pallarés; José M Fernández; Mats G Hansson; Rita Horvath; Julius O B Jacobsen; Rajaram Kaliyaperumal; Séverine Lair-Préterre; Luana Licata; Pedro Lopes; Estrella López-Martín; Deborah Mascalzoni; Lucia Monaco; Luis A Pérez-Jurado; Manuel Posada de la Paz; Jordi Rambla; Ana Rath; Olaf Riess; Peter N Robinson; David Salgado; Damian Smedley; Dylan Spalding; Peter A C 't Hoen; Ana Töpf; Irina Zaharieva; Holm Graessner; Ivo G Gut; Hanns Lochmüller; Sergi Beltran
Journal:  Hum Mutat       Date:  2022-06       Impact factor: 4.700

3.  Severe presentation and complex brain malformations in an individual carrying a CCND2 variant.

Authors:  Gerarda Cappuccio; Lorenzo Ugga; Elena Parrini; Alessandra D'Amico; Nicola Brunetti-Pierri
Journal:  Mol Genet Genomic Med       Date:  2019-05-06       Impact factor: 2.183

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.