Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia.

Journal of medical genetics - 1 Feb 2010

Mignon-Ravix Cécile, Cacciagli Pierre, El-Waly Bilal, Moncla Anne, Milh Mathieu, Girard Nadine, Chabrol Brigitte, Philip Nicole, Villard Laurent

Abstract excerpt

BACKGROUND: Malformations of cortical development are not rare and cause a wide spectrum of neurological diseases based on the affected region in the cerebral cortex. A significant proportion of these malformations could have a genetic basis. However, genetic studies are limited because most cases are sporadic and mendelian forms are rare. METHODS: In order to identify new genetic causes in patients presenting...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to 14-3-3 Proteins
Share to Chromosomes, Human, Pair 17

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to Corpus Callosum

Share to Magnetic Resonance Imaging

Share to Organ Specificity

Share to Radiography

Share to Tumor Suppressor Proteins

Source

Identifiers

PMID: 19635726
DOI: 10.1136/jmg.2009.069112

Genes

YWHAE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia.PMID 19635726Read ↗

Microdeletions excluding <i>YWHAE</i> and <i>PAFAH1B1</i> cause a unique leukoencephalopathy and hypermobility syndrome: Further delineation of the 17p13.3 microdeletion spectrumSemantic proximity Read ↗

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome.Semantic proximity Read ↗

Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.Semantic proximity Read ↗

Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation.Semantic proximity Read ↗

The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.Semantic proximity Read ↗

Malformations of cortical development: clinical features and genetic causes.Semantic proximity Read ↗

17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterization.Semantic proximity Read ↗

Chromosomal map of human brain malformations.Semantic proximity Read ↗

Genetic malformations of cortical development.Semantic proximity Read ↗

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.Semantic proximity Read ↗

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletionSemantic proximity Read ↗

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.