(Q38216932)

31 August 2017

Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology (English)

1 reference

31 August 2017

1 reference

2

Annapurna Poduri

1 reference

31 August 2017

Ghayda M Mirzaa

1

1 reference

31 August 2017

28 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

2

1 reference

31 August 2017

156-172

1 reference

Further delineation of the partial proximal trisomy 10q syndrome

31 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

The spectrum of lissencephaly: report of ten patients analyzed by magnetic resonance imaging

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Biallelic TSC gene inactivation in tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Megalencephaly in children: Clinical syndromes, genetic patterns, and differential diagnosis from other causes of megalocephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Megalencephaly: types, clinical syndromes, and management

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Differences in cyclin D2 and D1 protein expression distinguish forebrain progenitor subsets

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Cyclin D2 is critical for intermediate progenitor cell proliferation in the embryonic cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Genomic organization, chromosomal localization, and independent expression of human cyclin D genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Glycogen synthase kinase-3beta and p38 phosphorylate cyclin D2 on Thr280 to trigger its ubiquitin/proteasome-dependent degradation in hematopoietic cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Everolimus treatment of refractory epilepsy in tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Pten regulates neuronal soma size: a mouse model of Lhermitte-Duclos disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

mTor is required for hypertrophy of Pten-deficient neuronal soma in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Focal malformations of cortical development: new vistas for molecular pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Germline mutations in PTEN are present in Bannayan-Zonana syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Colony-stimulating factor 1 regulates novel cyclins during the G1 phase of the cell cycle

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

PTEN hamartoma tumour syndrome: variability of an entity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Clinical and imaging characteristics of localized megalencephaly: a retrospective comparison of diffuse hemimegalencephaly and multilobar cortical dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

A seizure-prone phenotype is associated with altered free-running rhythm in Pten mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Hemimegalencephalic variant of epidermal nevus syndrome: case report and literature review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Somatic activation of AKT3 causes hemispheric developmental brain malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Somatic mutation, genomic variation, and neurological disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Oncogenic PI3K and its role in cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Contralateral hemimicrencephaly in neonatal hemimegalencephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

The phenotype of recurrent 10q22q23 deletions and duplications

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

Pharmacological inhibition of mTORC1 suppresses anatomical, cellular, and behavioral abnormalities in neural-specific Pten knock-out mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31401

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.31401

1 reference

31 August 2017

1 reference

PubMed ID

24888963