Results 51 to 60 of about 14,149 (242)
Preclinical and Clinical Epigenetic-Based Reconsideration of Beckwith-Wiedemann Syndrome
Frontiers in Genetics, 2020 Epigenetics has achieved a profound impact in the biomedical field, providing new experimental opportunities and innovative therapeutic strategies to face a plethora of diseases.
Chiara Papulino +4 more
semanticscholar +1 more source
Simpson-Golabi-Behmel syndrome types I and II [PDF]
, 2014 Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and organomegaly.
Fernando Santos +6 more
core +1 more source
The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023
Acta Ophthalmologica, EarlyView.Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg +9 more
wiley +1 more source
Beckwith-Wiedemann syndrome and isolated hemihyperplasia
São Paulo Medical JournalCONTEXT: Beckwith-Wiedemann syndrome is a complex and heterogeneous overgrowth syndrome with genetic and epigenetic alterations, involving genomic imprinting and cancer predisposition.
Marcus Vinícius de Matos Gomes +1 more
doaj +1 more source
Clinical Genetics, EarlyView.Copy number variations (CNVs) in 11p15.5 account for more than 2% of the molecular disturbances in the imprinting disorders Beckwith–Wiedemann and Silver–Russell syndrome. Their size and gene content vary, and therefore the impact on the phenotype is variable. Based on published data from > 220 carriers, an overview of the pathogenicity of 11p15.5 CNVs
Anastasia Maria Licata +3 more
wiley +1 more source
A case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome
American Journal of Ophthalmology Case Reports, 2021 Purpose: To report a case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome (BWS). Observations: An 8-month-old girl known case of BWS, due to hypomethylation of the DMR2 (KCNQ1OT1) on chromosome 11p15.5, with ...
Maram Alnefaie +2 more
doaj +1 more source
, 2007 Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features ...
Cormier-Daire Valérie +1 more
core +2 more sources
Analysis of Human Uniparental Embryonic Stem Cells Reveals New Putative Imprinted Loci
Cell Proliferation, EarlyView.To identify novel imprinted genes, parthenogenetic, androgenetic and biparental human embryonic stem cells and their differentiated neural progenitors were analysed by methylome and transcriptome profiling. This approach uncovered 12 putative novel imprinted genes, including a clustered region on chromosome 19, expanding the current catalogue of ...
Shay Kinreich, Nissim Benvenisty
wiley +1 more source
A rare case of Beckwith-Wiedemann syndrome with encephalocele
The Pan African Medical Journal, 2020 A premature female child was delivered with polyhydramnios, an unusually large placenta and long umbilical cord. The clinical examination revealed that there is macrosomia, macroglossia and encephalocele. The patient also had complains of hypoglycemia on
Rakesh Khatana, Anamika Khatana
doaj +1 more source
Beckwith Wiedemann Syndrome : presentation of a case report [PDF]
, 2008 Beckwith Wiedemann Syndrome (BWS) is a rare congenital disease of low prevalence. However, it presents a high prevalence within the genetic pathologies of overgrowth.
Fernández Toro, María de los Ángeles +3 more
core +1 more source