Genetic disorders associated with postnatal microcephaly (Q38212652)

31 August 2017

Genetic disorders associated with postnatal microcephaly (English)

1 reference

31 August 2017

0 references

Laurie E Seltzer

1

1 reference

PubMed ID

24839169

31 August 2017

Alex R Paciorkowski

series ordinal

2

1 reference

31 August 2017

16 May 2014

1 reference

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

31 August 2017

1 reference

31 August 2017

166C

1 reference

31 August 2017

140-155

1 reference

31 August 2017

2

1 reference

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

31 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

‘Puppet’ Children A Report on Three Cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

FOXG1 is responsible for the congenital variant of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Key clinical features to identify girls with CDKL5 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

A possible cranio-oro-facial phenotype in Cockayne syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Christianson syndrome: spectrum of neuroimaging findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

MeCP2, a key contributor to neurological disease, activates and represses transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Angelman syndrome: a review of the clinical and genetic aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Rett syndrome: critical examination of clinical features, serial EEG and video-monitoring in understanding and management.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Subclinical myocardial dysfunction in Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Rett syndrome and epilepsy: an update for child neurologists

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Rett syndrome and associated movement disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

TCF4 deletions in Pitt-Hopkins Syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Epilepsy and the natural history of Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

MICRO syndrome: an entity distinct from COFS syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Deep brain stimulation to treat hyperkinetic symptoms of Cockayne syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

The genetics of early telencephalon patterning: some assembly required

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Rubinstein-Taybi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

The role of the MAGUK protein CASK in neural development and synaptic function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Neurodegeneration in hereditary nucleotide repair disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Allelic specificity of Ube3a expression in the mouse brain during postnatal development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

UBE3A/E6-AP mutations cause Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Neuroimaging in Cockayne syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Foxg1 coordinates the switch from nonradially to radially migrating glutamatergic subtypes in the neocortex through spatiotemporal repression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Maternal disruption of Ube3a leads to increased expression of Ube3a-ATS in trans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Is Angelman syndrome an alternate result of del(15)(q11q13)?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Neurodevelopmental outcome in Angelman syndrome: genotype-phenotype correlations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

CDKL5 and ARX mutations in males with early-onset epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Phenotypic spectrum associated with CASK loss-of-function mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Cochlear implantation in Cockayne syndrome: our experience of two cases with different outcomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Rett syndrome: revised diagnostic criteria and nomenclature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Pitt-Hopkins syndrome in two patients and further definition of the phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Rett syndrome. Current status and new vistas

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Rett syndrome: exploring the autism link

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

HASH-1 and E2-2 are expressed in human neuroblastoma cells and form a functional complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Epilepsy in Rett syndrome: clinical and genetic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Breathing challenges in Rett syndrome: lessons learned from humans and animal models.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Cockayne syndrome in adults: review with clinical and pathologic study of a new case

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Spinal deformity and disability in patients with Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Rubinstein-Taybi syndrome: clinical and molecular overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

From eugenic euthanasia to habilitation of "disabled'' children: Andreas Rett's contribution.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Epilepsy and outcome in FOXG1-related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Cockayne syndrome: the developing phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Neurologic manifestations of Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Structure and expression of the excision repair gene ERCC6, involved in the human disorder Cockayne's syndrome group B

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Epigenetic mechanisms in neurological diseases: genes, syndromes, and therapies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Epilepsy in patients with angelman syndrome caused by deletion of the chromosome 15q11-13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Mental retardation, "coarse" face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

DNA damage stabilizes interaction of CSB with the transcription elongation machinery

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in an RNA polymerase II-containing complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Sleep problems in Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

The diagnosis of autism in a female: could it be Rett syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Loss of MeCP2 from forebrain excitatory neurons leads to cortical hyperexcitation and seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Capping of the N-terminus of PSD-95 by calmodulin triggers its postsynaptic release

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Palmitoylation-dependent CDKL5-PSD-95 interaction regulates synaptic targeting of CDKL5 and dendritic spine development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31400

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.31400

1 reference

31 August 2017

1 reference

PubMed ID

24839169