Literature DB >> 29067506

A unique case of lissencephaly with Crouzon syndrome heterozygous for FGFR2 mutation.

Ai Peng Tan1, Kshitij Mankad2.   

Abstract

Entities:  

Mesh:

Substances:

Year:  2017        PMID: 29067506     DOI: 10.1007/s00381-017-3646-0

Source DB:  PubMed          Journal:  Childs Nerv Syst        ISSN: 0256-7040            Impact factor:   1.475


× No keyword cloud information.
  5 in total

1.  A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration.

Authors:  R D Emes; C P Ponting
Journal:  Hum Mol Genet       Date:  2001-11-15       Impact factor: 6.150

2.  Unknown syndrome: pachygyria, joint contractures, and facial abnormalities.

Authors:  R M Winter; B N Harding; J Hyde
Journal:  J Med Genet       Date:  1989-12       Impact factor: 6.318

3.  Lissencephaly: Expanded imaging and clinical classification.

Authors:  Nataliya Di Donato; Sara Chiari; Ghayda M Mirzaa; Kimberly Aldinger; Elena Parrini; Carissa Olds; A James Barkovich; Renzo Guerrini; William B Dobyns
Journal:  Am J Med Genet A       Date:  2017-04-25       Impact factor: 2.802

4.  Diffuse polymicrogyria associated with congenital hydrocephalus, craniosynostosis, severe mental retardation, and minor facial and genital anomalies.

Authors:  L Pavone; R Rizzo; P Pavone; P Curatolo; W B Dobyns
Journal:  J Child Neurol       Date:  2000-07       Impact factor: 1.987

5.  Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism.

Authors:  R D Cohn; G Gillessen-Kaesbach; W B Dobyns; T Kahn; H G Lenard; T Voit
Journal:  Am J Med Genet       Date:  1996-05-03
  5 in total
  3 in total

1.  Fetal and neonatal MRI features of ARX-related lissencephaly presenting with neonatal refractory seizure disorder.

Authors:  Sara Ffrench-Constant; Carolina Kachramanoglou; Brynmor Jones; Nigel Basheer; Nikolaos Syrmos; Mario Ganau; Wajanat Jan
Journal:  Quant Imaging Med Surg       Date:  2019-11

Review 2.  Apert syndrome: magnetic resonance imaging (MRI) of associated intracranial anomalies.

Authors:  Ai Peng Tan; Kshitij Mankad
Journal:  Childs Nerv Syst       Date:  2017-12-02       Impact factor: 1.475

3.  N-cadherin-regulated FGFR ubiquitination and degradation control mammalian neocortical projection neuron migration.

Authors:  Elif Kon; Elisa Calvo-Jiménez; Alexia Cossard; Youn Na; Jonathan A Cooper; Yves Jossin
Journal:  Elife       Date:  2019-10-02       Impact factor: 8.140

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.