Therapeutic approaches to imprinting diseases
H Sassi, LG Rousseau, J Grill, E Rouleau - Epigenetics in Human Disease, 2024 - Elsevier
Genomic imprinting disorders are rare diseases that arise from the disruption of genetic or
epigenetic mechanisms, within monoallelic expressed genes from a parental-specific allele …
epigenetic mechanisms, within monoallelic expressed genes from a parental-specific allele …
Application of Original Therapy for Stimulation of Oral Areas Innervated by the Trigeminal Nerve in a Child with Beckwith–Wiedemann Syndrome
W Pawlukowska, M Patalan, E Bagińska, M Giżewska… - Brain Sciences, 2023 - mdpi.com
About 90% of children diagnosed with classic BWS have macroglossia, and 40% of them
are submitted to surgical tongue reduction. The purpose of our article is to present a case …
are submitted to surgical tongue reduction. The purpose of our article is to present a case …
Neonatal Hypoglycemia
ADM Barbosa, IF Júnior… - Selected Topics in …, 2018 - books.google.com
Hypoglycemia is the most frequent metabolic abnormality in the newborn, but no consensus
exists on what level of blood glucose is able to protect the brain and influence the child's …
exists on what level of blood glucose is able to protect the brain and influence the child's …
Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia
AR Larsen, K Brusgaard, HT Christesen, S Detlefsen - 2024 - digitum.um.es
Hyperinsulinemic hypoglycemia (HH) of pancreatic origin includes congenital
hyperinsulinism (CHI), insulinoma, insulinomatosis, and adult-onset non-insulinoma …
hyperinsulinism (CHI), insulinoma, insulinomatosis, and adult-onset non-insulinoma …
[PDF][PDF] Bagi nska, E.; Gizewska, M.; Masztalewicz, M. Application of Original Therapy for Stimulation of Oral Areas Innervated by the Trigeminal Nerve in a Child with …
W Pawlukowska, M Patalan - Brain Sci, 2023 - academia.edu
About 90% of children diagnosed with classic BWS have macroglossia, and 40% of them
are submitted to surgical tongue reduction. The purpose of our article is to present a case …
are submitted to surgical tongue reduction. The purpose of our article is to present a case …
[HTML][HTML] Phenotypes and epigenetic errors in patients with Beckwith-Wiedemann syndrome in China
M Zhang, C Sun, R Liu, C Dong, R Cheng… - Translational …, 2020 - ncbi.nlm.nih.gov
Background Beckwith-Wiedemann syndrome (BWS) is primarily caused by epigenetic
errors. This study aimed to analyze the relationship between the epigenetic errors and …
errors. This study aimed to analyze the relationship between the epigenetic errors and …
[HTML][HTML] 1 例Beckwith-Wiedemann 综合征儿童的诊断及随访管理并文献复习
张京慧， 童笑梅， 张娟， 常艳美 - 中国生育健康杂志, 2023 - cjrh.bjmu.edu.cn
本文报道一例Beckwith-Wiedemann 综合征(BWS) 患儿. 该患儿为孕35+ 1 周早产女婴,
试管婴儿, 出生体重2 760 g. 特殊体征: 舌体大, 双耳切迹, 面部火焰状红斑, 双下肢长度不等 …
试管婴儿, 出生体重2 760 g. 特殊体征: 舌体大, 双耳切迹, 面部火焰状红斑, 双下肢长度不等 …
Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome
HY Lin, CL Lee, S Fran, RY Tu, YH Chang… - Journal of Personalized …, 2021 - mdpi.com
Background: Beckwith-Wiedemann syndrome (BWS; OMIM 130650) is a rare overgrowth
syndrome with tumor predisposition resulting from the abnormal expression or function of …
syndrome with tumor predisposition resulting from the abnormal expression or function of …
[HTML][HTML] A rare case of extremely low birth weight infant with Beckwith-Wiedemann syndrome
Y Takeuchi, S Inoue, Y Muta, K Kawaguchi… - International Journal of …, 2024 - Elsevier
Abstract Introduction Beckwith–Wiedemann syndrome (BWS) manifests distinctive features,
such as macroglossia, overgrowth, and abdominal wall defects. In this report, we describe a …
such as macroglossia, overgrowth, and abdominal wall defects. In this report, we describe a …