Introduction: Brain malformations (Q38213961)

31 August 2017

Introduction: Brain malformations (English)

1 reference

31 August 2017

Ghayda M Mirzaa

1

1 reference

PubMed ID

24853778

31 August 2017

Alex R Paciorkowski

series ordinal

2

1 reference

31 August 2017

22 May 2014

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

31 August 2017

1 reference

31 August 2017

166C

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31 August 2017

2

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31 August 2017

117-123

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Cardiac disease and Rett syndrome

31 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31404

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31404

A developmental and genetic classification for malformations of cortical development: update 2012

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31404

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31404

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.31404

A genomic regulatory network for development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31404

Miller-Dieker syndrome: lissencephaly and monosomy 17p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31404

Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31404

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31404

Dcx reexpression reduces subcortical band heterotopia and seizure threshold in an animal model of neuronal migration disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31404

Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31404

The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31404

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.31404

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31404

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.31404

Cytomegalovirus-induced brain malformations in fetuses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31404

So what? Does the test lead to improved health outcomes?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31404

Significance of microcephaly among children with developmental disabilities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31404

Lissencephaly: mechanistic insights from animal models and potential therapeutic strategies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31404

Inhibition of calpain increases LIS1 expression and partially rescues in vivo phenotypes in a mouse model of lissencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31404

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31404

Immunodeficiency in Vici syndrome: A heterogeneous phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31404

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.31404

1 reference

31 August 2017

1 reference

PubMed ID

24853778