Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature (Q35117171)

6 August 2017

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title

Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature (English)

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6 August 2017

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9

Angela M Kaindl

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6 August 2017

1

Maja von der Hagen

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6 August 2017

Mark Pivarcsi

2

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6 August 2017

Juliane Liebe

3

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6 August 2017

Horst von Bernuth

4

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6 August 2017

Nataliya Didonato

5

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6 August 2017

Julia B Hennermann

6

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6 August 2017

Christoph Bührer

7

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6 August 2017

Dagmar Wieczorek

8

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6 August 2017

12 March 2014

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Developmental Medicine and Child Neurology

6 August 2017

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6 August 2017

56

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6 August 2017

732-741

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6 August 2017

8

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https://api.crossref.org/works/10.1111%2FDMCN.12425

6 August 2017

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21 January 2018

Microcephaly syndromes

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https://api.crossref.org/works/10.1111%2FDMCN.12425

Nonsyndromic microcephaly: an overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Acquired microcephaly: causes, patterns, motor and IQ effects, and associated growth changes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Developmental outcome of isolated fetal microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Head size and intelligence, learning, nutritional status and brain development. Head, IQ, learning, nutrition and brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

The influence of head growth in fetal life, infancy, and childhood on intelligence at the ages of 4 and 8 years.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Effect of very low birth weight and subnormal head size on cognitive abilities at school age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Head circumference growth function as a marker of neurological impairment in a cohort of microcephalic infants and children

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Association of epilepsy with different groups of microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Etiology and clinical predictors of intractable epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Agenesis of the corpus callosum in California 1983-2003: a population-based study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Developmental malformation of the corpus callosum: a review of typical callosal development and examples of developmental disorders with callosal involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Hypoplasia of the corpus callosum: a study of 445 consecutive MRI scans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Magnetic resonance imaging and proton magnetic resonance spectroscopy of the brain in the diagnostic evaluation of developmental delay.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

The treatable intellectual disability APP www.treatable-id.org: a digital tool to enhance diagnosis & care for rare diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Etiology of mental retardation in children referred to a tertiary care center: a prospective study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Etiologic yield of subspecialists' evaluation of young children with global developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Changes in brain weights during the span of human life: relation of brain weights to body heights and body weights

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

L-serine synthesis in the central nervous system: a review on serine deficiency disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Clinical characteristics and diagnosis of Smith-Lemli-Opitz syndrome and tentative phenotype-genotype correlation: report of 45 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Amish microcephaly: Long-term survival and biochemical characterization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Neonatal manifestation of multiple sulfatase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Leukotriene C4-synthesis deficiency: a new inborn error of metabolism linked to a fatal developmental syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Prenatal brain disruption in molybdenum cofactor deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

A copy number variation morbidity map of developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

Many roads lead to primary autosomal recessive microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

The Clinical Evaluation of Patients with Mental Retardation/Intellectual Disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

CDG-Id in two siblings with partially different phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12425

21 January 2018

Identifiers

DOI

10.1111/DMCN.12425

1 reference

6 August 2017

1 reference