Cargando…

Large offspring syndrome: A bovine model for the human loss-of-imprinting overgrowth syndrome Beckwith-Wiedemann

Beckwith-Wiedemann syndrome (BWS) is a human loss-of-imprinting syndrome primarily characterized by macrosomia, macroglossia, and abdominal wall defects. BWS has been associated with misregulation of two clusters of imprinted genes. Children conceived with the use of assisted reproductive technologi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chen, Zhiyuan, Robbins, Katherine Marie, Wells, Kevin Dale, Rivera, Rocío Melissa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Landes Bioscience 2013
Materias:	Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3857339/ https://www.ncbi.nlm.nih.gov/pubmed/23751783 http://dx.doi.org/10.4161/epi.24655

Ejemplares similares

Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome
por: Li, Yahan, et al.
Publicado: (2019)

Beckwith-Wiedemann syndrome
por: Mishra, Deeksha, et al.
Publicado: (2023)

Fetal overgrowth in the Cdkn1c mouse model of Beckwith-Wiedemann syndrome
por: Tunster, Simon J., et al.
Publicado: (2011)

Sonographic Assessment of Renal Growth in Patients with Beckwith-Wiedemann Syndrome: The Beckwith-Wiedemann Syndrome Renal Nomogram
por: Ortiz-Neira, Clara L, et al.
Publicado: (2009)

Evidence for anticipation in Beckwith–Wiedemann syndrome
por: Berland, Siren, et al.
Publicado: (2013)

Diagnosis and Management of Beckwith-Wiedemann Syndrome
por: Wang, Kathleen H., et al.
Publicado: (2020)

Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome
por: Eßinger, Carla, et al.
Publicado: (2020)

Beckwith-Wiedemann syndrome in a child with multifocal Wilms tumor and lateralized overgrowth: A case report
por: Hailu, Samuel Sisay, et al.
Publicado: (2023)

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome
por: Dagar, Vinod, et al.
Publicado: (2018)

Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance
por: Fontana, Laura, et al.
Publicado: (2021)

Epigenetic mosaicism and cell burden in Beckwith–Wiedemann syndrome due to loss of methylation at imprinting control region 2
por: Duffy, Kelly A., et al.
Publicado: (2021)

Validating mouse model of Beckwith-Wiedemann syndrome
Publicado: (2011)

Placental Mesenchymal Dysplasia and Beckwith–Wiedemann Syndrome
por: Soejima, Hidenobu, et al.
Publicado: (2022)

Genetic diagnosis of Beckwith Wiedemann syndrome and Silver-Russell syndrome
por: Kim, Yoo-Mi, et al.
Publicado: (2013)

Beckwith–Wiedemann syndrome and recurrent bilateral renal calculi
por: Cheungpasitporn, Wisit, et al.
Publicado: (2017)

A rare case of Beckwith-Wiedemann syndrome with encephalocele
por: Khatana, Rakesh, et al.
Publicado: (2020)

Introduction to the Beckwith–Wiedemann Syndrome and Cancer Special Issue
por: Mussa, Alessandro, et al.
Publicado: (2023)

Multiple Fractures in an Infant With Hepatoblastoma and Beckwith-Wiedemann Syndrome
por: Eimicke, Toni, et al.
Publicado: (2023)

Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)
por: Meyer, Esther, et al.
Publicado: (2009)

Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith–Wiedemann syndrome and Silver–Russell syndrome
por: Nativio, Raffaella, et al.
Publicado: (2011)

Cystic Fibrosis and Beckwith-Wiedemann Syndrome: A Case Report
por: Aguiar, Claudia, et al.
Publicado: (2015)

Virginal breast hypertrophy in a patient with Beckwith–Wiedemann syndrome
por: Szymańska, Edyta, et al.
Publicado: (2018)

Perioperative airway management of a patient with Beckwith-Wiedemann syndrome
por: Tsukamoto, Masanori, et al.
Publicado: (2016)

Preclinical and Clinical Epigenetic-Based Reconsideration of Beckwith-Wiedemann Syndrome
por: Papulino, Chiara, et al.
Publicado: (2020)

Macroglossia in Beckwith-Wiedemann Syndrome Is Attributed to Skeletal Muscle Hyperplasia
por: Oyama, Yuzo, et al.
Publicado: (2020)

Phenotypes and epigenetic errors in patients with Beckwith-Wiedemann syndrome in China
por: Zhang, Miaoying, et al.
Publicado: (2020)

Adrenocortical adenoma in a Sudanese girl with Beckwith-Wiedemann syndrome
por: Elnaw, Eman Abdalla Ali, et al.
Publicado: (2019)

MON-LB036 Uncommon Findings in Beckwith-Wiedemann Syndrome
por: Martins, Jéssica M E S, et al.
Publicado: (2020)

Functional Adrenocortical Adenoma in a Child with Beckwith–Wiedemann Syndrome
por: Doya, Leen Jamel, et al.
Publicado: (2021)

Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith‐Wiedemann syndrome
por: Sobel Naveh, Natali S., et al.
Publicado: (2022)

Metastatic Phyllodes Tumor in a Patient With Beckwith-Wiedemann Syndrome
por: Saini, Astha, et al.
Publicado: (2022)

Recurrent Hypoglycemia Secondary to Insulinoma in an Adult With Beckwith-Wiedemann Syndrome
por: Akcan, Tugce, et al.
Publicado: (2023)

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus
por: Valente, Federica Maria, et al.
Publicado: (2019)

Unusual deletion of the maternal 11p15 allele in Beckwith–Wiedemann syndrome with an impact on both imprinting domains
por: Eggermann, Thomas, et al.
Publicado: (2021)

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance
por: Cubellis, Maria Vittoria, et al.
Publicado: (2020)

Rescue of placental phenotype in a mechanistic model of Beckwith-Wiedemann syndrome
por: Oh-McGinnis, Rosemary, et al.
Publicado: (2010)

Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects
por: Ibrahim, Abdulla, et al.
Publicado: (2014)

Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology
por: Tee, Louise, et al.
Publicado: (2013)

Bilateral Asynchronous Adrenocortical Adenoma in a Girl with Beckwith-Wiedemann Syndrome
por: Mizota, Michiyo, et al.
Publicado: (2005)

Anesthetic management of tongue reduction in a case of Beckwith-Wiedemann syndrome
por: Batra, Meenu, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_7g1jmlotea127s57qkuroep2bj