scholarly article | Q13442814 |
P356 | DOI | 10.1177/2329048X14568151 |
P8608 | Fatcat ID | release_eeaxgfzhxvg3tgv3wslryob6ci |
P932 | PMC publication ID | 5417036 |
P698 | PubMed publication ID | 28503589 |
P5875 | ResearchGate publication ID | 276342613 |
P50 | author | Christine K Byun | Q87535681 |
P2093 | author name string | Byung Chan Lim | |
Jong-Hee Chae | |||
Ki Joong Kim | |||
Yong Seung Hwang | |||
Jin Sook Lee | |||
P2860 | cites work | Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. | Q37181805 |
Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies. | Q38045465 | ||
FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome | Q41934633 | ||
Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant | Q41937481 | ||
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. | Q41937721 | ||
RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution | Q44889062 | ||
Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females | Q48546504 | ||
Rett variants: a suggested model for inclusion criteria | Q50304366 | ||
Molecular characteristics of Chinese patients with Rett syndrome. | Q51310515 | ||
Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group | Q69029784 | ||
An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001 | Q78369107 | ||
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome | Q24303656 | ||
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation | Q24534159 | ||
Rett syndrome: revised diagnostic criteria and nomenclature | Q24596295 | ||
FOXG1 is responsible for the congenital variant of Rett syndrome | Q24647431 | ||
Rett syndrome: clinical review and genetic update | Q24674633 | ||
A method and server for predicting damaging missense mutations | Q27860835 | ||
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy | Q28272644 | ||
Key clinical features to identify girls with CDKL5 mutations | Q28293847 | ||
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm | Q29547194 | ||
A FOXG1 mutation in a boy with congenital variant of Rett syndrome | Q33670794 | ||
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. | Q33910551 | ||
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis | Q33924011 | ||
On a unusual brain atrophy syndrome in hyperammonemia in childhood | Q34230621 | ||
Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome | Q35546503 | ||
FOXG1-Related Disorders: From Clinical Description to Molecular Genetics. | Q36006595 | ||
14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements. | Q36404068 | ||
Genotyping FOXG1 Mutations in Patients with Clinical Evidence of the FOXG1 Syndrome | Q36600641 | ||
P433 | issue | 1 | |
P921 | main subject | Rett syndrome | Q917357 |
P304 | page(s) | 2329048X14568151 | |
P577 | publication date | 2015-01-01 | |
P1433 | published in | Child Neurology Open | Q50816853 |
P1476 | title | FOXG1 Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome. | |
P478 | volume | 2 |
Q37145746 | Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay | cites work | P2860 |
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