Genetic disorders associated with macrocephaly (Q22337413)

Europe PubMed Central

title

Genetic disorders associated with macrocephaly (English)

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Charles A. Williams

1

Charles A

Williams

1 reference

8 February 2023

Aditi Dagli

series ordinal

2

author given names

Aditi

author last names

Dagli

1 reference

8 February 2023

Agatino Battaglia

series ordinal

3

author given names

Agatino

author last names

Battaglia

1 reference

American Journal of Medical Genetics Part A

8 February 2023

language of work or name

English

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publication date

1 August 2008

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published in

1 reference

Effects of age on brain volume and head circumference in autism

volume

146A

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issue

15

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page(s)

2023-2037

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cites work

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The fragile X syndrome II: preliminary data on growth and development in males

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Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

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HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

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HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

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Somatic mosaicism for an HRAS mutation causes Costello syndrome.

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Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.

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Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM).

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Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes

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NSD1 mutations in Sotos syndrome

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Etiologic yield of autistic spectrum disorders: a prospective study

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7 January 2021

Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency

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Neuroglial activation and neuroinflammation in the brain of patients with autism

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7 January 2021

Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease

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7 January 2021

Neuroanatomy of fragile X syndrome is associated with aberrant behavior and the fragile X mental retardation protein (FMRP).

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7 January 2021

Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children

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7 January 2021

Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene

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7 January 2021

The neuroimaging findings in Sotos syndrome

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7 January 2021

Inherited macrocephaly-hamartoma syndromes

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7 January 2021

The syndromes of Sotos and Weaver: reports and review

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7 January 2021

Neurofibromatosis type 1 growth charts.

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7 January 2021

Growth charts for young children with neurofibromatosis 1 (NF1)

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7 January 2021

The widened frontal subarachnoid space. A CT comparative study between macrocephalic, microcephalic, and normocephalic infants and children

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7 January 2021

Alexander's disease: further light-, and electron-microscopic observations

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7 January 2021

Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counselling

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7 January 2021

Congenital hydrocephalus internus and aqueduct stenosis: aetiology and implications for genetic counselling

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7 January 2021

What's new in the neuro-cardio-facial-cutaneous syndromes?

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7 January 2021

Lhermitte-Duclos disease and Cowden disease: clinical and genetic study in five patients with Lhermitte-Duclos disease and literature review.

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7 January 2021

Disorders of intermediary metabolism: toxic leukoencephalopathies

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7 January 2021

CT evaluation of normal CSF spaces in children: relationship to age, gender and cranial size

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7 January 2021

Megalencephaly: types, clinical syndromes, and management

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7 January 2021

The Akt-mTOR tango and its relevance to cancer

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7 January 2021

Brain overgrowth in autism during a critical time in development: implications for frontal pyramidal neuron and interneuron development and connectivity

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7 January 2021

Correction of fragile X syndrome in mice.

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7 January 2021

Accelerated head growth in early development of individuals with autism

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7 January 2021

Expanding the clinical picture of Simpson-Golabi-Behmel syndrome.

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7 January 2021

Nonsyndromic microcephaly: an overview

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7 January 2021

A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly

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7 January 2021

Familial variation of head size and adjustment for parental head circumference

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7 January 2021

Autism and macrocephaly

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7 January 2021

Aspartoacylase is restricted primarily to myelin synthesizing cells in the CNS: therapeutic implications for Canavan disease

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7 January 2021

The clinical course of Canavan disease.

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7 January 2021

Mouse models of neurofibromatosis type I: bridging the GAP.

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7 January 2021

Macrocephaly in autism and other pervasive developmental disorders

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7 January 2021

Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy

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7 January 2021

D-2-hydroxyglutaric aciduria: further clinical delineation

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7 January 2021

Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome

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7 January 2021

Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

1 reference

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7 January 2021

Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Germline mutations in HRAS proto-oncogene cause Costello syndrome

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Germline KRAS mutations cause Noonan syndrome

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Germline gain-of-function mutations in SOS1 cause Noonan syndrome

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Germline gain-of-function mutations in RAF1 cause Noonan syndrome

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Diseases of unstable repeat expansion: mechanisms and common principles

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7 January 2021

Macrocrania and megalencephaly in the neonate

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7 January 2021

Macrocephalies--a differentiated approach

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7 January 2021

Identification and characterization of a novel androgen receptor coregulator ARA267-alpha in prostate cancer cells

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7 January 2021

Autosomal recessive hydrocephalus due to aqueduct stenosis: report of a further family and implications for genetic counselling

1 reference

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7 January 2021

Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation

1 reference

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7 January 2021

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings

1 reference

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7 January 2021

NSD1 is essential for early post-implantation development and has a catalytically active SET domain

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Canavan disease: diffusion magnetic resonance imaging findings

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Early acceleration of head circumference in children with fragile x syndrome and autism.

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Brain apparent diffusion coefficient evaluation in pediatric patients with neurofibromatosis type 1.

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Genetics evaluation for the etiologic diagnosis of autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

The Cowden syndrome: a clinical and genetic study in 21 patients

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Multifactorial inheritance of non-syndromic macrocephaly

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Head circumference in autism and other pervasive developmental disorders

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Children with large heads: a practical approach to diagnosis in 557 children, with special reference to 109 children with megalencephaly

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https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Abnormal Head Circumference in Learning‐disabled Children

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

The Neuropathology of Autism

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

The neurobiology of autism

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Strong association of de novo copy number mutations with autism

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Growth in Sotos syndrome

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management

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https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

https://api.crossref.org/works/10.1002/AJMG.A.32434

1 reference

7 January 2021

PTPN11 mutations in LEOPARD syndrome

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

The Control of Neuron Number

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https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

The Epidemiology of Autism Spectrum Disorders *

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https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Neurofibromatosis type 1: pathologic substrate of high-signal-intensity foci in the brain

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Best cases from the AFIP: hemimegalencephaly.

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https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Chronic subdural hematoma of the neonate: report of two cases and literature review

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https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Large brains in autism: the challenge of pervasive abnormality

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https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Neuronal migration disorders, genetics, and epileptogenesis

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https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Clinical aspects of hemimegalencephaly by means of a nationwide survey

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

The biology and clinical relevance of the PTEN tumor suppressor pathway

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

The nature and frequency of cognitive deficits in children with neurofibromatosis type 1.

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Periventricular heterotopia in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Aberrant growth and differentiation of oligodendrocyte progenitors in neurofibromatosis type 1 mutants

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Glutaric aciduria type 1 and nonaccidental head injury

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

Pathogenesis and treatment of intracranial arachnoid cysts in pediatric patients younger than 2 years of age.

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.32434

7 January 2021

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Identifiers

DOI

10.1002/AJMG.A.32434

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Fatcat ID

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