SHORT Syndrome Latest Advances

Two Cases of Severe Insulin Resistance in Pregnancy: A New Diagnosis of INSR Variant and a Patient with SHORT Syndrome.

Journal: JCEM case reports

Published: July 08, 2025

Metreleptin In SHORT Syndrome With Uncontrolled Diabetes.

Journal: JCEM case reports

Published: July 01, 2025

Deletion of the SHORT Syndrome Gene Prkce Results in Brain Atrophy and Cognitive and Motor Behavior Deficits in Mice.

Journal: Neuroscience bulletin

Published: March 31, 2025

The metabolically protective energy expenditure increase of Pik3r1-related insulin resistance is not explained by Ucp1-mediated thermogenesis.

Journal: American journal of physiology. Endocrinology and metabolism

Published: March 28, 2025

High prevalence of sleep disorders in Ménière's disease: Interplay between vestibular function and sleep.

Journal: Journal of vestibular research : equilibrium & orientation

Published: March 17, 2025

Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant.

Journal: eLife

Published: January 21, 2025

Multivariate deep phenotyping reveals behavioral correlates of non-restorative sleep in 22q11.2 deletion syndrome.

Journal: Psychiatry research

Published: January 10, 2025

A rare case of PIK3R1 gene mutation associated SHORT syndrome

Journal: Zhonghua nei ke za zhi

Published: January 09, 2025

PIK3R1 mutations in individuals with insulin resistance or growth retardation: Case series and in silico functional analysis.

Journal: Journal of diabetes investigation

Published: January 08, 2025

A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes.

Journal: Journal of diabetes investigation

Published: January 07, 2025

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Two Cases of Severe Insulin Resistance in Pregnancy: A New Diagnosis of INSR Variant and a Patient with SHORT Syndrome.

Two Cases of Severe Insulin Resistance in Pregnancy: A New Diagnosis of INSR Variant and a Patient with SHORT Syndrome.

Metreleptin In SHORT Syndrome With Uncontrolled Diabetes.

Metreleptin In SHORT Syndrome With Uncontrolled Diabetes.

Deletion of the SHORT Syndrome Gene Prkce Results in Brain Atrophy and Cognitive and Motor Behavior Deficits in Mice.

Deletion of the SHORT Syndrome Gene Prkce Results in Brain Atrophy and Cognitive and Motor Behavior Deficits in Mice.

The metabolically protective energy expenditure increase of Pik3r1-related insulin resistance is not explained by Ucp1-mediated thermogenesis.

The metabolically protective energy expenditure increase of Pik3r1-related insulin resistance is not explained by Ucp1-mediated thermogenesis.

High prevalence of sleep disorders in Ménière's disease: Interplay between vestibular function and sleep.

High prevalence of sleep disorders in Ménière's disease: Interplay between vestibular function and sleep.

Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant.

Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant.

Multivariate deep phenotyping reveals behavioral correlates of non-restorative sleep in 22q11.2 deletion syndrome.

Multivariate deep phenotyping reveals behavioral correlates of non-restorative sleep in 22q11.2 deletion syndrome.

A rare case of PIK3R1 gene mutation associated SHORT syndrome

A rare case of PIK3R1 gene mutation associated SHORT syndrome

PIK3R1 mutations in individuals with insulin resistance or growth retardation: Case series and in silico functional analysis.

PIK3R1 mutations in individuals with insulin resistance or growth retardation: Case series and in silico functional analysis.

A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes.

A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes.

Sleep difficulties related to psychopathology and neurocognition in people with 22q11.2 deletion syndrome.

Sleep difficulties related to psychopathology and neurocognition in people with 22q11.2 deletion syndrome.

Identification of A Novel Mutation of SHORT Syndrome: A Case Report.

Identification of A Novel Mutation of SHORT Syndrome: A Case Report.