DiGeorge Syndrome Latest Advances

Correction: What can we learn from scoliosis in children with the 22q11.2 deletion syndrome? Prognostic factors at pre-adolescent age for fast progressive, mild and self-resolving forms during adolescence.

Journal: Spine deformity

Published: August 27, 2025

Human ectodermal organoids reveal the cellular origin of DiGeorge Syndrome.

Journal: bioRxiv : the preprint server for biology

Published: August 26, 2025

Bezafibrate improves mitochondrial function, blood-brain barrier integrity, and social deficits in models of 22q11.2 deletion syndrome.

Journal: Science translational medicine

Published: August 20, 2025

Hippocampal input-driven plasticity of prefrontal interneurons reveals a circuit basis for impaired spatial working memory.

Journal: bioRxiv : the preprint server for biology

Published: August 08, 2025

RNA Polymerase I Dysfunction Underlying Craniofacial Syndromes: Integrated Genetic Analysis Reveals Parallels to 22q11.2 Deletion Syndrome.

Journal: Genes

Published: July 22, 2025

Health Supervision for Children With 22q11.2 Deletion Syndrome: Clinical Report.

Journal: Pediatrics

Published: July 20, 2025

Schizophrenia-associated 22q11.2 deletion elevates striatal acetylcholine and disrupts thalamostriatal projections to produce amotivation in mice.

Journal: bioRxiv : the preprint server for biology

Published: July 16, 2025

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.

Journal: bioRxiv : the preprint server for biology

Published: July 09, 2025

A Case of Atlanto-Axial Rotatory Fixation Requiring Internal Fixation.

Journal: Journal of orthopaedic case reports

Published: June 17, 2025

Diagnosis of 22q11.2 Deletion Syndrome is not Independently Associated with Complications Following Speech Surgery: A National Surgical Quality Improvement Program Pediatric Study.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Published: June 13, 2025

Successful use of clozapine in a patient with schizophrenia comorbid with 22q11.2 deletion syndrome and multiple periventricular nodular heterotopia: A case report.

Journal: PCN reports : psychiatry and clinical neurosciences

Published: May 29, 2025

Age-Related Dysphagia Among Children with 22q11.2-Deletion Syndrome.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Published: May 28, 2025

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Correction: What can we learn from scoliosis in children with the 22q11.2 deletion syndrome? Prognostic factors at pre-adolescent age for fast progressive, mild and self-resolving forms during adolescence.

Correction: What can we learn from scoliosis in children with the 22q11.2 deletion syndrome? Prognostic factors at pre-adolescent age for fast progressive, mild and self-resolving forms during adolescence.

Human ectodermal organoids reveal the cellular origin of DiGeorge Syndrome.

Human ectodermal organoids reveal the cellular origin of DiGeorge Syndrome.

Bezafibrate improves mitochondrial function, blood-brain barrier integrity, and social deficits in models of 22q11.2 deletion syndrome.

Bezafibrate improves mitochondrial function, blood-brain barrier integrity, and social deficits in models of 22q11.2 deletion syndrome.

Hippocampal input-driven plasticity of prefrontal interneurons reveals a circuit basis for impaired spatial working memory.

Hippocampal input-driven plasticity of prefrontal interneurons reveals a circuit basis for impaired spatial working memory.

RNA Polymerase I Dysfunction Underlying Craniofacial Syndromes: Integrated Genetic Analysis Reveals Parallels to 22q11.2 Deletion Syndrome.

RNA Polymerase I Dysfunction Underlying Craniofacial Syndromes: Integrated Genetic Analysis Reveals Parallels to 22q11.2 Deletion Syndrome.

Health Supervision for Children With 22q11.2 Deletion Syndrome: Clinical Report.

Health Supervision for Children With 22q11.2 Deletion Syndrome: Clinical Report.

Schizophrenia-associated 22q11.2 deletion elevates striatal acetylcholine and disrupts thalamostriatal projections to produce amotivation in mice.

Schizophrenia-associated 22q11.2 deletion elevates striatal acetylcholine and disrupts thalamostriatal projections to produce amotivation in mice.

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.

A Case of Atlanto-Axial Rotatory Fixation Requiring Internal Fixation.

A Case of Atlanto-Axial Rotatory Fixation Requiring Internal Fixation.

Diagnosis of 22q11.2 Deletion Syndrome is not Independently Associated with Complications Following Speech Surgery: A National Surgical Quality Improvement Program Pediatric Study.

Diagnosis of 22q11.2 Deletion Syndrome is not Independently Associated with Complications Following Speech Surgery: A National Surgical Quality Improvement Program Pediatric Study.

Successful use of clozapine in a patient with schizophrenia comorbid with 22q11.2 deletion syndrome and multiple periventricular nodular heterotopia: A case report.

Successful use of clozapine in a patient with schizophrenia comorbid with 22q11.2 deletion syndrome and multiple periventricular nodular heterotopia: A case report.

Age-Related Dysphagia Among Children with 22q11.2-Deletion Syndrome.

Age-Related Dysphagia Among Children with 22q11.2-Deletion Syndrome.