Epidemiology, Comorbidities, and Healthcare Costs of Prader-Willi Syndrome in South Korea Using the Korean National Health Insurance Service Database.

[Clinical features and genetic analysis of a child with STISS syndrome due to variant of PSMD12 gene].

Mitigation of Oxidative Stress Pathways in the Diabetic Cornea and Lacrimal Glands Contributes to the Rapid Reversal of Diabetic Dry Eye by Naltrexone.

Type 2 Diabetes in a Portuguese Adolescent With Hijazi-Reis Syndrome.

Cohen syndrome with novel VPS13B variants presenting as early-onset diabetes: a case report.

Abluminus DES+ sirolimus-eluting stent versus everolimus-eluting stent in patients with diabetes and coronary artery disease (ABILITY Diabetes Global): results from a multicentre, randomised controlled trial.

Revealing Monogenic Diabetes: Clinical and Genetic Features of Pediatric MODY Cases in Türkiye: Single Center Experience.

Once-daily supplementation with pre-meal whey protein lowers breakfast postprandial glucose levels in women with GDM throughout the third trimester: a randomised, controlled, clinical trial.

ITCH Deficiency Causing Immunodeficiency and Immune Dysregulation.

A Complex Case of Koolen-De Vries Syndrome Associated with Hypopituitarism and Type 1 Diabetes Mellitus.

DNA methylation of genes involved in lipid metabolism drives adiponectin levels and metabolic disease.

Efficacy of an advanced hybrid closed-loop system in a patient with type 1 diabetes and intellectual disability: a case report.

A novel homozygous missense DNAJC3 variant in syndromic juvenile-onset diabetes.

A KDM6 A variant in a Chinese female patient with diabetes mellitus and oligomenorrhea: a case report.

Reversal of Diabetic Dry Eye by Topical Opioid Receptor Blockade Follows Dual Pathways.

Natural history of patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy.

Metformin therapy modifies corneal neuroimmune abnormalities in people with type 2 diabetes.

Comorbidities, Endocrine Medications, and Mortality in Prader-Willi Syndrome-A Swedish Register Study.

Systemic Diseases in Patients with Congenital Aniridia: A Report from the Homburg Registry for Congenital Aniridia.

Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients.

Diet-enhanced LRG1 expression promotes insulin hypersecretion and ER stress in pancreatic beta cells.

Kabuki syndrome associated with type 1 diabetes mellitus: report of three cases.

New Insights Into TRMT10A Syndrome: Case Report and Literature Review.

Efficacy of Radio Electric Asymmetric Conveyer (REAC) Biomodulation Treatments in Managing Chronic Pain, Edema, and Metabolic Syndrome: A Case Report.

Woodhouse-sakati syndrome with no reportable MRI findings: a case report.

Metabolic health in people living with type 1 diabetes in Belgium: a repeated cross-sectional study.

Familial renal glycosuria identified in an Indian family.

Discovery of a TRMT10A mutation in a case of atypical diabetes: Case report.

Behavioral Changes in a Pediatric Patient With Sotos Syndrome: A Case Emphasizing the Importance of Coordinated Care.

Chronic Health Conditions Among Adults With Intellectual and Developmental Disabilities in a State Medicaid System.

Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha.

Clinical Findings in a Series of Thirty Eight Patients with Williams-Beuren Syndrome.

Evaluation of changes in carbonyl stress markers with treatment in male patients with bipolar disorder manic episode: A controlled study.

Alström Syndrome: A Challenging Case Study of a Female Saudi Patient With Type 2 Diabetes Mellitus and Complete Vision Loss.

Topical naltrexone increases aquaporin 5 production in the lacrimal gland and restores tear production in diabetic rats.

Endocrine, auxological and metabolic profile in children and adolescents with Down syndrome: from infancy to the first steps into adult life.

An interpretable predictive deep learning platform for pediatric metabolic diseases.

Maternal and perinatal outcomes in twin pregnancies following assisted reproduction: a systematic review and meta-analysis involving 802 462 pregnancies.

Woodhouse-Sakati syndrome: A review.

A bibliometric perspective with research trends and global productivity on the modernization of andrology from the founder of modern clinical andrology Edward Martin to the present.

Updates on Obesity in Prader-Willi Syndrome: From Genetics to Management.

Genetic Insights into the causal relationship between cannabis use and diabetic phenotypes: A genetic correlation and Mendelian randomization study.

Cognitive Function in Early Onset Type 1 Diabetes in Children.

Two novel cases of biallelic SMPD4 variants with brain structural abnormalities.

Woodhouse-Sakati syndrome in an Indian patient with a novel pathogenic variant.

Circulating Citrate Is Associated with Liver Fibrosis in Nonalcoholic Fatty Liver Disease and Nonalcoholic Steatohepatitis.

Megaloblastic Anemia in Bardet-Biedl Syndrome: A Rare Case Report.

Kidney disease in adults with Prader-Willi syndrome: international cohort study and systematic literature review.

Assessing the performance of European-derived cardiometabolic polygenic risk scores in South-Asians and their interplay with family history.

Identification of a Small Supernumerary Marker Chromosome in a Turner Syndrome Patient with Karyotype mos 46,X,+mar/45,X.

Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review.

A new entity in the NARS2 variant: the first reported case of type 1 diabetes mellitus associated with the phenotype.

Cataract surgery outcomes in pediatric patients with systemic comorbidities.

Chronic treatment with the anti-diabetic drug metformin rescues impaired brain mitochondrial activity and selectively ameliorates defective cognitive flexibility in a female mouse model of Rett syndrome.

Cynapanoside A exerts protective effects against obesity-induced diabetic nephropathy through ameliorating TRIM31-mediated inflammation, lipid synthesis and fibrosis.

Prevalence of Mental, Behavioral, and Developmental Disorders Among Children and Adolescents with Diabetes, United States (2016-2019).

Elimination of fibrin polymer formation or crosslinking, but not fibrinogen deficiency, is protective against diet-induced obesity and associated pathologies.

A case of familial recurrent 17q12 microdeletion syndrome presenting with severe diabetic ketoacidosis.

Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse-Sakati syndrome.

Berardinelli Seip Syndrome: A rare case report.

Genetic Heterogeneity and Challenges in the Management of Permanent Neonatal Diabetes Mellitus: A Single-Centre Study from South India.

Diabetes mellitus and insulin resistance associated with Kabuki syndrome-A case report and literature review.

Polypharmacy in a Patient With Intellectual and Developmental Disabilities.

Corrigendum: Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene.

Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review.

Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis.

Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining.

The presentation, course and outcome of COVID-19 infection in people with Prader-Willi syndrome: unexpected findings from an international survey.

Approach to the Patient With Prader-Willi Syndrome.

Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene.

Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family.

Woodhouse-Sakati syndrome (WSS): A case report of 3 Saudi sisters with urogenital anomalies.

Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family.

Expanding on the phenotypic spectrum of Woodhouse-Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review.

Prevalence and incidence of physical health conditions in people with intellectual disability - a systematic review.

Writer's Cramp Presentation of Woodhouse-Sakati Syndrome - "Out of the Woods".

A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome.

A Japanese patient with a 2p25.3 terminal deletion presented with early-onset obesity, intellectual disability and diabetes mellitus: A case report.

Effects of Childhood Multidisciplinary Care and Growth Hormone Treatment on Health Problems in Adults with Prader-Willi Syndrome.

Ocular surface complications in diabetes: The interrelationship between insulin and enkephalin.

Differential DNA Methylation and Expression of miRNAs in Adipose Tissue From Twin Pairs Discordant for Type 2 Diabetes.

HIST1H1E syndrome with type 2 diabetes.

Bariatric and Metabolic Endoscopy: A New Paradigm.

Quantitative Susceptibility Mapping in Woodhouse-Sakati Syndrome.

Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.

Association of clinical factors and recent anticancer therapy with COVID-19 severity among patients with cancer: a report from the COVID-19 and Cancer Consortium.

TRMT10A Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic Kidneys.

Multimodal Evoked Potential Profiles in Woodhouse-Sakati Syndrome.

Fasting and fasting-mimicking diets for chemotherapy augmentation.

Fulminant type 1 diabetes mellitus in a child with SMID leading to hypovolemic shock.

Investigation of CD26, a potential SARS-CoV-2 receptor, as a biomarker of age and pathology.

COVID-19 Infection in a Patient With Fragile-X Syndrome.

SOX13 gene downregulation in peripheral blood mononuclear cells of patients with Klinefelter syndrome.

tRNA methyltransferase 10 homologue A (TRMT10A) mutation in a Chinese patient with diabetes, insulin resistance, intellectual deficiency and microcephaly.

Missed Diagnoses and Health Problems in Adults With Prader-Willi Syndrome: Recommendations for Screening and Treatment.

Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion.

Cognitive function in metformin exposed children, born to mothers with PCOS - follow-up of an RCT.

Clinical Reasoning: Seven-year-old girl with progressive gait difficulties.

Cluster of differentiation 8 and programmed cell death ligand 1 expression in triple-negative breast cancer combined with autosomal dominant polycystic kidney disease and tuberous sclerosis complex: a case report.

A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant.

Obstructive Sleep Apnea in School-Aged Children Presented with Nocturnal Enuresis.

Managing health changes for people with a learning disability in a residential care home setting.

Inborn errors of metabolism leading to neuronal migration defects.

Patterns of neurological manifestations in Woodhouse-Sakati Syndrome.

Computer Algorithms in Assessment of Obstructive Sleep Apnoea Syndrome and Its Application in Estimating Prevalence of Sleep Related Disorders in Population.

A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature.

Novel Intragenic PAX6 Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes.

Woodhouse-Sakati Syndrome: First report of a Portuguese case.

Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome.

Woodhouse-Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene.

A case of Woodhouse-Sakati syndrome with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17.

Syndromic Disorders Caused by Disturbed Human Imprinting.

EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.

Factors Associated with Alzheimer's Disease: An Overview of Reviews.

Phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of the young type 5.

2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.

Ciliopathy: Bardet-Biedl Syndrome.

In vitro profiling of volatile organic compounds released by Simpson-Golabi-Behmel syndrome adipocytes.

Brain MR Imaging Findings in Woodhouse-Sakati Syndrome.

A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability.

Parental Burden and its Correlates in Families of Children with Autism Spectrum Disorder: A Multicentre Study with Two Comparison Groups.

Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome.

Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome.

High prevalence of diabetes mellitus, hypertension and obesity among persons with a recorded diagnosis of intellectual disability or autism spectrum disorder.

Diabetes Mellitus Secondary to Acute Pancreatitis in a Child with Wolf-Hirschhorn Syndrome.

'The obesity paradox': a reconsideration of obesity and the risk of preterm birth.

Early metabolic markers identify potential targets for the prevention of type 2 diabetes.

Neuropsychiatric comorbidities in adults with phenylketonuria: A retrospective cohort study.

Endocrine Autoimmunity in Down's Syndrome.

Obesity in adults with 22q11.2 deletion syndrome.

A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.

[GENETICALLY DETERMINED DISEASES ASSOCIATED WITH PATHOLOGICAL BRAIN IRON ACCUMULATION AND NEURODEGENERATION].

Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation.

Genetics of human Bardet-Biedl syndrome, an updates.

CANDLE Syndrome: orodfacial manifestations and dental implications.

The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome.

Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.

tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy.

Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome.

Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.

Homozygous deletion of TRMT10A as part of a contiguous gene deletion in a syndrome of failure to thrive, delayed puberty, intellectual disability and diabetes mellitus.

A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly.

Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism.

Dammarane triterpenoids for pharmaceutical use: a patent review (2005 - 2014).