(Q36241459)

13 August 2017

1 reference

title

Nonsyndromic microcephaly: an overview (English)

1 reference

13 August 2017

0 references

Jules G Leroy

1

1 reference

PubMed ID

16124344

13 August 2017

Jaime L Frías

series ordinal

2

1 reference

13 August 2017

1 January 2005

1 reference

13 August 2017

Advances in pediatrics

1 reference

13 August 2017

52

1 reference

13 August 2017

261-293

1 reference

Physical growth: National Center for Health Statistics percentiles

13 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Mental retardation and head growth abnormalities

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Microcephaly and intelligence

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

A problem in diagnosis of primary versus secondary microcephaly

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

The insertion tape: a new circumference tape for use in nutritional assessment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Familial variation of head size and adjustment for parental head circumference

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Incremental growth charts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Molecular genetics of human microcephaly

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Recessive (true) microcephaly: a case report with neuropathological observations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Autosomal recessive nonsyndromal microcephaly with normal intelligence

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Identification of microcephalin, a protein implicated in determining the size of the human brain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

The BRCA1 C-terminal domain: structure and function.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

ASPM is a major determinant of cerebral cortical size

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Sonographic prenatal diagnosis of central nervous system abnormalities

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Mutant deoxynucleotide carrier is associated with congenital microcephaly

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Distinctive autosomal or X-linked dominant syndrome of microcephaly, mild developmental delay, short stature, and distinctive face

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Autosomal dominant microcephaly

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Silent microcephaly: a distinct autosomal dominant trait.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Autosomal dominant isolated ('uncomplicated') microcephaly

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Oligodontia, short stature and small head circumference with normal intelligence.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Neuronal migration, with special reference to developing human brain: a review

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Lissencephaly and the molecular basis of neuronal migration

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Life is a journey: a genetic look at neocortical development

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Causal heterogeneity in isolated lissencephaly

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Brain development, VIII: the reeler mouse.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

X-linked mental retardation with dystonic movements of the hands

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

The congenital muscular dystrophies in 2004: a century of exciting progress

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Glyc-O-genetics of Walker-Warburg syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Cell migration and cerebral cortical development

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Mechanistic and epidemiologic considerations in the evaluation of adverse birth outcomes following gestational exposure to statins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Microlissencephaly: a heterogeneous malformation of cortical development

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Classification system for malformations of cortical development: update 2001.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

In utero brain destruction resulting in collapse of the fetal skull, microcephaly, scalp rugae, and neurologic impairment: the fetal brain disruption sequence

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Report and review of the fetal brain disruption sequence

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibships.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Fetal brain disruption sequence in a newborn infant with a history of cordocentesis at 21 weeks gestation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Fetal brain disruption sequence in sisters

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

The CT and MR evaluation of migrational disorders of the brain. Part II. Schizencephaly, heterotopia and polymicrogyria.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Schizencephaly: correlations of clinical and radiologic features.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Schizencephaly: antenatal detection using ultrasound.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Pontocerebellar hypoplasia--how many types?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Mutations in holoprosencephaly

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Holoprosencephaly associated with an apparent isolated 2q37.1-->2q37.3 deletion.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

Dominant inheritance of microcephaly with short stature

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

inferred from DOI database lookup

7 January 2021

based on heuristic

Dominantly inherited microcephaly, short stature and normal intelligence

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2005.04.003

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YAPD.2005.04.003

1 reference

13 August 2017

1 reference

PubMed ID

16124344