相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Interstitial deletion of long arm of chromosome no. 5 with growth hormone deficiency-an emerging syndrome?
Jyoti Krishna et al.
CLINICAL GENETICS (2010)
Interstitial de novo deletion of the long arm of chromosome 5: Mapping of 5q bands associated with particular malformations
Alexander Rodewald et al.
CLINICAL GENETICS (2010)
Interstitial deletion of the long arm of chromosome no. 5 in two unrelated children with congenital anomalies and mental retardation
Margherita Cirillo Silengo et al.
CLINICAL GENETICS (2010)
Interstitial deletion in the long arm of chromosome no. 5
W. Harprecht-Beato et al.
CLINICAL GENETICS (2010)
Gangliosides in cerebrospinal fluid in children with autism spectrum disorders
Viviann Nordin et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)
Mutations in MEF2C from the 5q14.3q15 Microdeletion Syndrome Region Are a Frequent Cause of Severe Mental Retardation and Diminish MECP2 and CDKL5 Expression
Markus Zweier et al.
HUMAN MUTATION (2010)
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
N. Le Meur et al.
JOURNAL OF MEDICAL GENETICS (2010)
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion
C. Cardoso et al.
NEUROLOGY (2009)
Towards a neuroanatomy of autism: A systematic review and meta-analysis of structural magnetic resonance imaging studies
Andrew C. Stanfield et al.
EUROPEAN PSYCHIATRY (2008)
Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray
Erin L. Baldwin et al.
GENETICS IN MEDICINE (2008)
MEF2C, a transcription factor that facilitates learning and memory by negative regulation of synapse numbers and function
Ana C. Barbosa et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
A novel genetic locus for juvenile myoclonic epilepsy at chromosome 5q12-q14
Ashish Kapoor et al.
HUMAN GENETICS (2007)
Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation
Pawel Stankiewicz et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2007)
Genome-wide linkage of febrile seizures and epilepsy to the FEBL4 locus at 5q14.3-q23.1 and no MASS1 mutation
L Deprez et al.
HUMAN GENETICS (2006)
A nonsense mutation of the mass1 gene in a family with febrile and aebrile seizures
J Nakayama et al.
ANNALS OF NEUROLOGY (2002)
A common protein interaction domain links two recently identified epilepsy genes
H Scheel et al.
HUMAN MOLECULAR GENETICS (2002)
Significant evidence for linkage of febrile seizures to chromosome 5q14-q15
J Nakayama et al.
HUMAN MOLECULAR GENETICS (2000)
分享论文
