Truncation of NHEJ1 in a patient with polymicrogyria (Q34595138)

3 August 2017

title

Truncation of NHEJ1 in a patient with polymicrogyria (English)

1 reference

3 August 2017

0 references

1 reference

12

1 reference

Dominique Figarella-Branger

3 August 2017

9

object named as

Dominique Figarella-Branger

0 references

Vincent Cantagrel

object named as

Vincent Cantagrel

1

0 references

author name string

Anne-Marie Lossi

2

1 reference

3 August 2017

Steven Lisgo

3

1 reference

3 August 2017

Chantal Missirian

4

1 reference

3 August 2017

Ana Borges

5

1 reference

3 August 2017

Nicole Philip

6

1 reference

3 August 2017

Carla Fernandez

7

1 reference

3 August 2017

Carlos Cardoso

8

1 reference

3 August 2017

Anne Moncla

10

1 reference

3 August 2017

Susan Lindsay

11

1 reference

3 August 2017

Laurent Villard

13

1 reference

3 August 2017

publication date

1 April 2007

1 reference

3 August 2017

1 reference

3 August 2017

volume

28

1 reference

3 August 2017

issue

4

1 reference

3 August 2017

page(s)

356-364

1 reference

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.

3 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

CARD11 and CARD14 are novel caspase recruitment domain (CARD)/membrane-associated guanylate kinase (MAGUK) family members that interact with BCL10 and activate NF-kappa B

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

Human post-implantation embryo collection: medical and surgical techniques

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

Cernunnos interacts with the XRCC4 x DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

Diagnostic criteria for Walker-Warburg syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

The mechanism of arrest of neuronal migration in the Zellweger malformation: An hypothesis based upon cytoarchitectonic analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

Methods on in situ hybridization, immunohistochemistry and beta-galactosidase reporter gene detection

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

Muscle-eye-brain disease: a neuropathological study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

The role of cell death in regulating the size and shape of the mammalian forebrain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

Cytomegalovirus infection and schizencephaly: case reports

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

Genetics of the polymicrogyria syndromes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

Sidekick-1 is upregulated in glomeruli in HIV-associated nephropathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

Polymicrogyria and absence of pineal gland due to PAX6 mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

G protein-coupled receptor-dependent development of human frontal cortex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

Cortical dysplasia in Fukuyama congenital muscular dystrophy (FCMD): a Golgi and angioarchitectonic analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

A locus for bilateral perisylvian polymicrogyria maps to Xq28

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

Morphological substrates of infantile spasms: studies based on surgically resected cerebral tissue

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

Sidekicks: synaptic adhesion molecules that promote lamina-specific connectivity in the retina.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20450

7 January 2021

Identifiers

DOI

10.1002/HUMU.20450

1 reference

3 August 2017

1 reference