Corpus Callosum Agenesis Latest Advances

To be or not to be: review on multidisciplinary management of agenesis of corpus callosum.

Journal: Minerva obstetrics and gynecology

Published: April 15, 2025

A variant of p.Arg1623Gln of the DYNC1H1 gene in a patient with corpus callosum agenesis, polydactyly, mental development disorder, and neuromuscular system disorders

Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

Published: March 06, 2025

A Novel Variant c.149G>A in CDK5 Gene Causing Lissencephaly Type 7.

Journal: Clinical genetics

Published: March 03, 2025

Considerations in the counselling of the partial agenesis of corpus callosum outcome.

Journal: American journal of obstetrics and gynecology

Published: February 09, 2025

The patient-specific mouse model with Foxg1 frameshift mutation provides insights into the pathophysiology of FOXG1 syndrome.

Journal: bioRxiv : the preprint server for biology

Published: February 03, 2025

Transmantle heterotopia associated with agenesis of the corpus callosum in a patient with Parkinson: A case report.

Journal: Radiology case reports

Published: January 29, 2025

Prenatal diagnosis of a de novo 17q25.3 microdeletion encompassing RAC3 and CSNK1D in a fetus associated with partial agenesis of the corpus callosum, small brain volume, micrognathia and total anomalous pulmonary venous return.

Journal: Taiwanese journal of obstetrics & gynecology

Published: December 16, 2024

A Case of MIRAGE Syndrome with SAMD9 Mutation and Refractory Infantile Diarrhea: Endoscopic Biopsy Evaluation via Light and Electron Microscopy.

Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

Published: December 10, 2024

VEXAS, Chediak-Higashi syndrome and Danon disease: myeloid cell endo-lysosomal pathway dysfunction as a common denominator?

Journal: Cellular & molecular biology letters

Published: December 07, 2024

Grey matter hypertropia in a child with recurrent seizure: A case report.

Journal: Radiology case reports

Published: November 22, 2024

Bilateral Macular Dysplasia in Coffin-Siris Syndrome.

Journal: Retinal cases & brief reports

Published: November 12, 2024

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.

Journal: medRxiv : the preprint server for health sciences

Published: November 06, 2024

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To be or not to be: review on multidisciplinary management of agenesis of corpus callosum.

To be or not to be: review on multidisciplinary management of agenesis of corpus callosum.

A variant of p.Arg1623Gln of the DYNC1H1 gene in a patient with corpus callosum agenesis, polydactyly, mental development disorder, and neuromuscular system disorders

A variant of p.Arg1623Gln of the DYNC1H1 gene in a patient with corpus callosum agenesis, polydactyly, mental development disorder, and neuromuscular system disorders

A Novel Variant c.149G>A in CDK5 Gene Causing Lissencephaly Type 7.

A Novel Variant c.149G>A in CDK5 Gene Causing Lissencephaly Type 7.

Considerations in the counselling of the partial agenesis of corpus callosum outcome.

Considerations in the counselling of the partial agenesis of corpus callosum outcome.

The patient-specific mouse model with Foxg1 frameshift mutation provides insights into the pathophysiology of FOXG1 syndrome.

The patient-specific mouse model with Foxg1 frameshift mutation provides insights into the pathophysiology of FOXG1 syndrome.

Transmantle heterotopia associated with agenesis of the corpus callosum in a patient with Parkinson: A case report.

Transmantle heterotopia associated with agenesis of the corpus callosum in a patient with Parkinson: A case report.

Prenatal diagnosis of a de novo 17q25.3 microdeletion encompassing RAC3 and CSNK1D in a fetus associated with partial agenesis of the corpus callosum, small brain volume, micrognathia and total anomalous pulmonary venous return.

Prenatal diagnosis of a de novo 17q25.3 microdeletion encompassing RAC3 and CSNK1D in a fetus associated with partial agenesis of the corpus callosum, small brain volume, micrognathia and total anomalous pulmonary venous return.

A Case of MIRAGE Syndrome with SAMD9 Mutation and Refractory Infantile Diarrhea: Endoscopic Biopsy Evaluation via Light and Electron Microscopy.

A Case of MIRAGE Syndrome with SAMD9 Mutation and Refractory Infantile Diarrhea: Endoscopic Biopsy Evaluation via Light and Electron Microscopy.

VEXAS, Chediak-Higashi syndrome and Danon disease: myeloid cell endo-lysosomal pathway dysfunction as a common denominator?

VEXAS, Chediak-Higashi syndrome and Danon disease: myeloid cell endo-lysosomal pathway dysfunction as a common denominator?

Grey matter hypertropia in a child with recurrent seizure: A case report.

Grey matter hypertropia in a child with recurrent seizure: A case report.

Bilateral Macular Dysplasia in Coffin-Siris Syndrome.

Bilateral Macular Dysplasia in Coffin-Siris Syndrome.

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.