Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome

The heterogeneity of hyperinsulinaemic hypoglycaemia in 19 patients with Beckwith-Wiedemann syndrome due to KvDMR1 hypomethylation

(2015) Senthil Senniappan et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p

(2014) Yuri A. Zarate et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

(2014) Abdulla Ibrahim et al.   Clinical Epigenetics

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy

(2013) Jennifer M. Kalish et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low-Level Uniparental Disomy

(2013) Jennifer M. Kalish et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

KCNQ1 Long QT Syndrome Patients Have Hyperinsulinemia and Symptomatic Hypoglycemia

(2013) S. S. Torekov et al.   DIABETES

Beckwith-Wiedemann Syndrome: Growth Pattern and Tumor Risk according to Molecular Mechanism, and Guidelines for Tumor Surveillance

(2013) F. Brioude et al.   Hormone Research in Paediatrics

Pancreatic surgery in infants with Beckwith–Wiedemann Syndrome and Hyperinsulinism

(2013) Pablo Laje et al.   JOURNAL OF PEDIATRIC SURGERY

Insights Into the Molecular Mechanism for Type 2 Diabetes Susceptibility at the KCNQ1 Locus From Temporal Changes in Imprinting Status in Human Islets

(2012) M. E. Travers et al.   DIABETES

Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: Few clinical features suggestive of Beckwith-Wiedemann syndrome

(2012) Hiroyuki Adachi et al.   ENDOCRINE JOURNAL

Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism

(2012) Elizabeth A. Calton et al.   European Journal of Medical Genetics

Genotype and Phenotype Correlations in 417 Children With Congenital Hyperinsulinism

(2012) K. E. Snider et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Beckwith-Wiedemann syndrome

(2010) Sanaa Choufani et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases

(2010) Margaret Elliott et al.   CLINICAL GENETICS

Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes

(2010) Salah Azzi et al.   HUMAN MUTATION