Hypoparathyroidism Latest Advances

Impact of 22q11.2 deletion syndrome on clinical and immunological status of infants with conotruncal heart defects.

Journal: Cardiology in the young

Published: January 22, 2026

Suppressive Genetic Interactions Between Haploinsufficient Mitochondrial Genes Encoded in the 22q11.2 Microdeletion Locus Define Brain and Cardiac Phenotypes.

Journal: bioRxiv : the preprint server for biology

Published: January 16, 2026

Recurrent hypocalcaemic seizures: diagnosing 22q11.2 deletion syndrome in early adulthood.

Journal: BMJ case reports

Published: January 12, 2026

A novel mutation in exon 18 of FGFR1 causing hypoparathyroidism: A case report.

Journal: The Journal of international medical research

Published: January 11, 2026

Recurrent & non-recurrent copy number variants in Native Americans and a cosmopolitan sample in relation to Alcohol Use Disorder and other psychiatric diseases.

Journal: Research square

Published: January 09, 2026

Multicenter retrospective study on effectiveness, reported side effects, and cognitive outcomes of SSRIs in 22q11.2 deletion syndrome.

Journal: Research square

Published: January 09, 2026

A Systematic Review of Autoimmunity in 22q11.2 Deletion Syndrome.

Journal: Expert reviews in molecular medicine

Published: January 08, 2026

Primary hyperparathyroidism in a child with tuberous sclerosis.

Journal: Archivos argentinos de pediatria

Published: January 06, 2026

Maternal Folic Acid Supplementation Ameliorates Outflow Tract Malformations in Tbx1 Hypomorphic Mice via Notch and Midkine Signaling.

Journal: Circulation journal : official journal of the Japanese Circulation Society

Published: January 04, 2026

Challenging Case: Complex Developmental Care and Management in a Child With a Chromosomal Deletion.

Journal: Journal of developmental and behavioral pediatrics : JDBP

Published: January 02, 2026

Endothelial defects unveil cardiovascular phenotype in iPSC-based disease modelling across three generations of a DiGeorge syndrome family.

Journal: Research square

Published: December 31, 2025

Distinct cellular and transcriptional mechanisms mediate an antioxidant therapeutic response in 22q11-deleted upper layer cortical projection neurons.

Journal: bioRxiv : the preprint server for biology

Published: December 19, 2025

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Impact of 22q11.2 deletion syndrome on clinical and immunological status of infants with conotruncal heart defects.

Impact of 22q11.2 deletion syndrome on clinical and immunological status of infants with conotruncal heart defects.

Suppressive Genetic Interactions Between Haploinsufficient Mitochondrial Genes Encoded in the 22q11.2 Microdeletion Locus Define Brain and Cardiac Phenotypes.

Suppressive Genetic Interactions Between Haploinsufficient Mitochondrial Genes Encoded in the 22q11.2 Microdeletion Locus Define Brain and Cardiac Phenotypes.

Recurrent hypocalcaemic seizures: diagnosing 22q11.2 deletion syndrome in early adulthood.

Recurrent hypocalcaemic seizures: diagnosing 22q11.2 deletion syndrome in early adulthood.

A novel mutation in exon 18 of FGFR1 causing hypoparathyroidism: A case report.

A novel mutation in exon 18 of FGFR1 causing hypoparathyroidism: A case report.

Recurrent & non-recurrent copy number variants in Native Americans and a cosmopolitan sample in relation to Alcohol Use Disorder and other psychiatric diseases.

Recurrent & non-recurrent copy number variants in Native Americans and a cosmopolitan sample in relation to Alcohol Use Disorder and other psychiatric diseases.

Multicenter retrospective study on effectiveness, reported side effects, and cognitive outcomes of SSRIs in 22q11.2 deletion syndrome.

Multicenter retrospective study on effectiveness, reported side effects, and cognitive outcomes of SSRIs in 22q11.2 deletion syndrome.

A Systematic Review of Autoimmunity in 22q11.2 Deletion Syndrome.

A Systematic Review of Autoimmunity in 22q11.2 Deletion Syndrome.

Primary hyperparathyroidism in a child with tuberous sclerosis.

Primary hyperparathyroidism in a child with tuberous sclerosis.

Maternal Folic Acid Supplementation Ameliorates Outflow Tract Malformations in Tbx1 Hypomorphic Mice via Notch and Midkine Signaling.

Maternal Folic Acid Supplementation Ameliorates Outflow Tract Malformations in Tbx1 Hypomorphic Mice via Notch and Midkine Signaling.

Challenging Case: Complex Developmental Care and Management in a Child With a Chromosomal Deletion.

Challenging Case: Complex Developmental Care and Management in a Child With a Chromosomal Deletion.

Endothelial defects unveil cardiovascular phenotype in iPSC-based disease modelling across three generations of a DiGeorge syndrome family.

Endothelial defects unveil cardiovascular phenotype in iPSC-based disease modelling across three generations of a DiGeorge syndrome family.

Distinct cellular and transcriptional mechanisms mediate an antioxidant therapeutic response in 22q11-deleted upper layer cortical projection neurons.

Distinct cellular and transcriptional mechanisms mediate an antioxidant therapeutic response in 22q11-deleted upper layer cortical projection neurons.