• <em>RFC1</em> in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics
• A case of PIK3R1 gene variation induced SHORT syndrome
• A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome
• A novel germline variant in PIK3R1 results in SHORT syndrome associated with TAL/LMO T-cell acute lymphoblastic leukemia
• A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature
• A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel
• A Novel Variant of the PIK3R1 Gene Mutation Associated With SHORT Syndrome and Agammaglobulinemia
• Absent iris stroma, narrow body build and small facial bones: a new association or variant of SHORT syndrome?
• Aicardi Syndrome Is a Genetically Heterogeneous Disorder
• Alleviating neuropsychiatric symptoms in dementia: the effects of Ginkgo biloba extract EGb 761. Findings from a randomized controlled trial
• Antiperistaltic Transverse Coloplasty: A Salvage Procedure in Extensive Bowel and Colorectal Resections to Avoid Intestinal Failure
• APDS2 and SHORT Syndrome in a Teenager with PIK3R1 Pathogenic Variant
• Assessment of the Role of Endothelial and Vascular Smooth Muscle EGFR for Acute Blood Pressure Effects of Angiotensin II and Adrenergic Stimulation in Obese Mice
• Autosomal dominant PIK3R1 mutations cause SHORT syndrome
• BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome
• Cancer Predisposition Syndromes and Thyroid Cancer: Keys for a Short Two-Way Street
• Case report on SHORT syndrome
• Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in <em>PIK3R1</em> with reduced penetrance
• Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in PIK3R1 with reduced penetrance
• Clinical features and respiratory complications in Myhre syndrome
• Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management
• Cognitive-Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype-Phenotype Correlationships
• Comparative analysis of the effectiveness of SF-MPQ-2 and VAS for assessing the severity of pain syndrome in dental patients in the postoperative period
• Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients
• Correlates of estimated lifetime cruciate ligament survival inform potential rupture risk reduction strategies: findings from the Exceptional Aging in Rottweilers Study
• Disorders of IGFs and IGF-1R signaling pathways
• Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature
• Dynamic molecular architecture and substrate recruitment of cullin3-RING E3 ligase CRL3^KBTBD2
• Efficacy and tolerability of Ginkgo biloba extract EGb 761 by type of dementia: analyses of a randomised controlled trial
• Epidermolysis Bullosa-A Kindler Syndrome Case Report and Short Literature Review
• Etiologies of short stature in a pediatric endocrine clinic in Southern Thailand
• Evaluation of Rapid Multiplex Reverse Transcription-Quantitative Polymerase Chain Reaction Assays for SARS-CoV-2 Detection in Individual and Pooled Samples
• Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome
• EXPANSION OF THE SHORT SYNDROME PHENOTYPE IN AN ADULT PATIENT WITH UNILATERAL BASAL GANGLIA CALCIFICATION
• Extrahematopoietic manifestations of the short telomere syndromes
• Genetics of congenital lipodystrophies
• Genetics of human telomere biology disorders
• Inhibition of the PI 3-kinase pathway disrupts the unfolded protein response and reduces sensitivity to ER stress-dependent apoptosis
• Insights into the pathological mechanisms of p85α mutations using a yeast-based phosphatidylinositol 3-kinase model
• Insulin resistance and exaggerated insulin sensitivity triggered by single-gene mutations in the insulin signaling pathway
• Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations
• Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review
• Insulin-resistant diabetes during growth hormone therapy in a child with SHORT syndrome
• Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase
• Is SHORT syndrome another phenotypic variation of PITX2?
• Literature Commentary
• Liver Histology in Short Telomere Syndrome: A Case Report and Review of the Literature
• Metabolic Syndrome in Affective Disorders: Associations with Dark Triad Personality Traits
• Metformin paradoxically worsens insulin resistance in SHORT syndrome
• Mice Carrying a Dominant-Negative Human PI3K Mutation Are Protected From Obesity and Hepatic Steatosis but Not Diabetes
• Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two
• Mutations in PIK3R1 cause SHORT syndrome
• Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome
• New classification and diagnostic criteria for insulin resistance syndrome
• New classification and diagnostic criteria for insulin resistance syndrome
• Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6-month follow up
• Nutrition, Physical Activity and Supplementation in Irritable Bowel Syndrome
• Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants
• Paradoxical dominant negative activity of an immunodeficiency-associated activating <em>PIK3R1</em> variant
• Pathophysiology of premature aging characteristics in Mendelian progeroid disorders
• PI3-kinase mutation linked to insulin and growth factor resistance in vivo
• PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy
• PIK3R1 mutations in SHORT syndrome
• Premorbid Psychological Factors Associated with Long-Term Postoperative Headache after Microsurgery in Vestibular Schwannoma-A Retrospective Pilot Study
• Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS)
• Random walk with restart on multiplex and heterogeneous biological networks
• Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies
• Rieger anomaly and congenital glaucoma in the SHORT syndrome
• Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2
• SHORT Syndrome
• SHORT syndrome
• SHORT syndrome
• SHORT syndrome and insulin resistance
• SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Ce) impairing TORC2-dependent AKT activation
• SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation
• SHORT syndrome in a two-year-old girl - case report
• SHORT syndrome in an adult Brazilian patient
• SHORT syndrome in two Chinese girls: A case report and review of the literature
• SHORT syndrome with microcephaly and developmental delay
• SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling
• Short syndrome-an expanding phenotype
• SHORT syndrome: a case with high hyperopia and astigmatism
• SHORT syndrome: A good case can break an old acronym
• SHORT syndrome: a new case with probable autosomal dominant inheritance
• SHORT Syndrome: an Update on Pathogenesis and Clinical Spectrum
• SHORT syndrome: distinctive radiographic features
• SHORT Syndrome: Systematic Appraisal of the Medical and Dental Phenotype
• Short telomere syndrome in adults: a rare entity that should be evoked
• Short telomere syndromes cause a primary T cell immunodeficiency
• Shorter telomere length increases the risk of lymphocyte immunodeficiency: A Mendelian randomization study
• Structural and Dynamic Analyses of Pathogenic Variants in <em>PIK3R1</em> Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes
• TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature
• The DONPAD-study--treatment of dementia in patients with Parkinson's disease with donepezil
• The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence
• The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature
• The Methylation Status in the Chromosome 11p15.5 Region and Metabolic Disorders in Children with Syndromic and Nonsyndromic Intrauterine Growth Restriction
• The Role of Telomeres in Human Disease
• The Use of an Inspiration-Synchronized Vibrating Mesh Nebulizer for Prolonged Inhalative Iloprost Administration in Mechanically Ventilated Patients-An In Vitro Model
• Transient Neonatal Diabetes Mellitus in SHORT Syndrome: A Case Report
• Truncation of Pik3r1 causes severe insulin resistance uncoupled from obesity and dyslipidaemia by increased energy expenditure