Results 41 to 50 of about 14,149 (242)
Successful use of long acting octreotide in two cases with Beckwith-Wiedemann syndrome and severe hypoglycemia [PDF]
, 2014 INTRODUCTION: Hyperinsulinism associated with Beckwith-Wiedemann syndrome (BWS) can occur in about 50% of cases, causing hypoglycemia of variable severity. Parenteral use of octreotide may be indicated if unresponsive to diazoxide.
Hiba Al-Zubeidi +2 more
core +1 more source
A global disorder of imprinting in the human female germ line [PDF]
, 2002 Imprinted genes are expressed differently depending on whether they are carried by a chromosome of maternal or paternal origin. Correct imprinting is established by germline-specific modifications; failure of this process underlies several inherited ...
A Kerjean +30 more
core +1 more source
Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome
Disease Models & Mechanisms, 2020 Genomic imprinting, a phenomenon in which the two parental alleles are regulated differently, is observed in mammals, marsupials and a few other species, including seed-bearing plants. Dysregulation of genomic imprinting can cause developmental disorders
Suhee Chang, M. Bartolomei
semanticscholar +1 more source
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome
Journal of Medical Genetics, 2020 Background Beckwith-Wiedemann Syndrome (BWS) is characterised by overgrowth and tumour predisposition. While multiple epigenetic and genetic mechanisms cause BWS, the majority are caused by methylation defects in imprinting control regions on chromosome ...
Samuel W. Baker +5 more
semanticscholar +1 more source
Nature Communications, 2023 Pediatric liver tumors are very rare tumors with the most common diagnosis being hepatoblastoma. While hepatoblastomas are predominantly sporadic, around 15% of cases develop as part of predisposition syndromes such as Beckwith-Wiedemann (11p15.5 locus ...
Jill Pilet +17 more
doaj +1 more source
The potential impact of the fetal genotype on maternal blood pressure during pregnancy. [PDF]
, 2014 The heritability of pregnancy-induced hypertension (encompassing both gestational hypertension and preeclampsia) is around 0.47, suggesting that there is a genetic component to its development.
Beardsall, Kathryn +2 more
core +1 more source
Genomic Imprinting and Cancer: From Primordial Germ Cells to Somatic Cells [PDF]
, 2006 Imprinted genes are a subset of genes that are expressed from only one of the parental alleles. The majority of imprinted genes have roles in growth regulation and are, therefore, potential oncogenes or tumour suppressors. Cancer is a disease of aberrant
Adele Murrell
core +1 more source
Ultrasound and molecular prenatal diagnosis of Beckwith-Wiedemann syndrome: Two case reports
Radiology Case Reports, 2022 Beckwith-Wiedemann syndrome (BWS) is a rare genetic disease, characterized by macrosomia, congenital malformations and tumor predisposition, associated with genetic and epigenetic alterations in the 11p15 region.
Andreia de Vasconcelos Gaspar, MD +3 more
doaj +1 more source
Coblation for Congenital Microglossia in Beckwith-Wiedemann Syndrome
Philippine Journal of Otolaryngology Head and Neck Surgery, 2008 Objective: To present a rare case of congenital macroglossia managed with radiofrequency ablation. Methods: Design: Case report Setting: Tertiary government hospital Patient: One Results: A case of a congenital macroglossia in a 4 ...
Melanie Y. Marino +2 more
doaj +1 more source
Recent Advances in Imprinting Disorders. [PDF]
, 2016 Imprinting disorders (ImpDis) are a group of currently 12 congenital diseases with common underlying (epi)genetic etiologies and overlapping clinical features affecting growth, development and metabolism.
Begemann, M +11 more
core +1 more source