Gonul Buyukyilmaz

Incorporating mitochondrial DNA structural variant analysis in routine genome sequencing increases monogenic diabetes diagnosis at no additional cost

Oguzhan Kalyon, Ronan Arumugam, Dill Patel, Sabrina Wright et autres

Mitochondrial DNA structural variants (mtSVs) cause multisystem disease, including diabetes, yet genetic testing for diabetes does not routinely screen for them. The need for dedicated assays and the limited data on the prevalence of mtSVs in monogenic diabetes cohorts are major limitations …

Incorporating mtDNA Structural Variant Analysis Into Routine Genome Sequencing Increases Monogenic Diabetes Diagnosis at No Additional Cost

Oğuzhan Kalyon, Ronan Arumugam, Dill Patel, Sabrina Wright et autres

gb, tr, Rwanda, ph, au (code pays fourni par la source)

Incorporating mitochondrial DNA structural variant analysis in routine genome sequencing increases monogenic diabetes diagnosis at no additional cost

Oguzhan Kalyon, Ronan Arumugam, Dill Patel, Sabrina Wright et autres

Mitochondrial DNA structural variants (mtSVs) cause multisystem disease, including diabetes, yet genetic testing for diabetes does not routinely screen for them. The need for dedicated assays and the limited data on the prevalence of mtSVs in monogenic diabetes cohorts are major limitations …

One-hour glucose–defined metabolic phenotypes in youth with obesity: early β-cell impairment across the spectrum of dysglycemia

Duygu Ertan, Sirmen Kızılcan Cetin, İrem Gökdemir, Murat Çetin et autres

tr (code pays fourni par la source)

Clinical and genetic spectrum of SHOX deficiency: phenotypic heterogeneity and the “Jumping SHOX” phenomenon

Ayşe Burcu Doğan Arı, Hasan Arı, Esra Şükran Çakar, Taha Mustafa Solmaz et autres

kh, tr (code pays fourni par la source)

Genotype–Phenotype Spectrum of Non‐Syndromic Monogenic Obesity in a National Paediatric Cohort

Ahmet Kahveci, Selin Uzun Karauzum, Hayrullah Manyas, Behiye Sarıkaya Özdemir et autres

OBJECTIVE: Non-syndromic monogenic obesity, caused by defects in the leptin-melanocortin pathway, presents with early-onset severe obesity and hyperphagia, but genotype-phenotype and metabolic correlations across different genetic forms remain unclear. METHODS: In this multicentre retrospective cohort study, individuals with biallelic (likely) pathogenic variants …

tr (code pays fourni par la source)

Supplementary Materials for “Real-World Experience of 40 Children with PPGL: Algorithm–Practice Concordance in Resource-Limited Settings”

Ilknur Kurt, Büşra Gürpınar Tosun, N. Uslu, Deniz Ozalp Kizilay et autres

Supplementary Figure 1. Anterior and left lateral maximum intensity projection (MIP) images from (A–B) the baseline 68Ga-DOTATATE PET/CT study, the baseline 18F-FDG PET/CT study (C–D), and post-operative 18F-FDG PET/CT study performed dueto biochemical recurrence following right adrenalectomy are presented (E–F). These sequential …

Supplementary Materials for “Real-World Experience of 40 Children with Pheochromocytoma/Paraganglioma: Algorithm–Practice Concordance in Resource-Limited Settings”

Ilknur Kurt, Büşra Gürpınar Tosun, N. Uslu, Deniz Ozalp Kizilay et autres

Supplementary Figure 1. Anterior and left lateral maximum intensity projection (MIP) images from (A–B) the baseline 68Ga-DOTATATE PET/CT study, the baseline 18F-FDG PET/CT study (C–D), and post-operative 18F-FDG PET/CT study performed dueto biochemical recurrence following right adrenalectomy are presented (E–F). These sequential …

Supplementary Materials for “Real-World Experience of 40 Children with PPGL: Algorithm–Practice Concordance in Resource-Limited Settings”

Ilknur Kurt, Büşra Gürpınar Tosun, N. Uslu, Deniz Ozalp Kizilay et autres

Supplementary Figure 1. Anterior and left lateral maximum intensity projection (MIP) images from (A–B) the baseline 68Ga-DOTATATE PET/CT study, the baseline 18F-FDG PET/CT study (C–D), and post-operative 18F-FDG PET/CT study performed dueto biochemical recurrence following right adrenalectomy are presented (E–F). These sequential …

CHOPS Syndrome: A Rare Malformation Syndrome with de novo AFF4 Gene Variant

İrem Eda Gökdemir, Sirmen Kızılcan Çetin, Esra KAYA KILIÇ, Gonul Buyukyilmaz et autres

Introduction: CHOPS syndrome is a rare, multisystem disorder caused by heterozygous pathogenic variants in the AFF4 gene. The acronym CHOPS is characterized by Cognitive impairment and coarse facial features (C), Heart defects (H), Obesity (O), Pulmonary involvement (P), and Short stature/skeletal dysplasia …

tr (code pays fourni par la source)

Tip 1 Diyabetli Çocuklarda Kalp Damar Hastalığı Riskinin Osilometrik Yöntem ve Ekokardiyografi İle Değerlendirmesi

İBRAHİM İLKER ÇETİN, Fatih Gürbüz, Mehmet Boyraz, Umut Selda Bayraktar et autres

Treatment of growth hormone deficiency in langerhans cell histiocytosis

Gonul Buyukyilmaz, Nurgün Kandemir, Ayfer Alikaşifoğlu, E. Nazlı Gönç et autres

Objective: Langerhans cell histiocytosis (LCH) is a rare disorder, with diabetes insipidus (DI) occurring in up to half of patients. Growth failure is also a common finding and may be caused by illness itself, treatment, hormone deficiencies (DI, growth hormone deficiency-GHD). GH …