Literature DB >> 12687674

Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome.

Margherita Silengo, Giovanni Battista Ferrero, Lorella Tornetta, Maria Grazia Cortese, Ferdinando Canavese, Gabriella D'Alonzo, Francesco Papalia.   

Abstract

Entities:  

Mesh:

Year:  2003        PMID: 12687674     DOI: 10.1002/ajmg.a.20013

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


× No keyword cloud information.
  5 in total

1.  Clinical utility gene card for: Mowat-Wilson syndrome.

Authors:  Marcella Zollino; Livia Garavelli; Anita Rauch
Journal:  Eur J Hum Genet       Date:  2011-02-23       Impact factor: 4.246

Review 2.  Mowat-Wilson syndrome.

Authors:  Livia Garavelli; Paola Cerruti Mainardi
Journal:  Orphanet J Rare Dis       Date:  2007-10-24       Impact factor: 4.123

Review 3.  Neurological Phenotype of Mowat-Wilson Syndrome.

Authors:  Duccio Maria Cordelli; Veronica Di Pisa; Anna Fetta; Livia Garavelli; Lucia Maltoni; Luca Soliani; Emilia Ricci
Journal:  Genes (Basel)       Date:  2021-06-27       Impact factor: 4.096

Review 4.  Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.

Authors:  Kao-Jung Chang; Hsin-Yu Wu; Aliaksandr A Yarmishyn; Cheng-Yi Li; Yu-Jer Hsiao; Yi-Chun Chi; Tzu-Chen Lo; He-Jhen Dai; Yi-Chiang Yang; Ding-Hao Liu; De-Kuang Hwang; Shih-Jen Chen; Chih-Chien Hsu; Chung-Lan Kao
Journal:  Int J Mol Sci       Date:  2022-08-26       Impact factor: 6.208

5.  Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.

Authors:  Katherine C MacKenzie; Bianca M de Graaf; Andreas Syrimis; Yuying Zhao; Erwin Brosens; Grazia M S Mancini; Rachel Schot; Dicky Halley; Martina Wilke; Arve Vøllo; Frances Flinter; Andrew Green; Sahar Mansour; Jacek Pilch; Zornitza Stark; Eleni Zamba-Papanicolaou; Violetta Christophidou-Anastasiadou; Robert M W Hofstra; Jan D H Jongbloed; Nayia Nicolaou; George A Tanteles; Alice S Brooks; Maria M Alves
Journal:  Hum Mutat       Date:  2020-09-16       Impact factor: 4.878

  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.