Cargando…

Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome

Detalles Bibliográficos
Autores principales:	Bastaki, Fatma, Saif, Fatima, Ali, Mahmoud T. Al, Hamzeh, Abdul Rezzak
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Saudi Medical Journal 2016
Materias:	Clinical Note
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4800924/ https://www.ncbi.nlm.nih.gov/pubmed/26837408 http://dx.doi.org/10.15537/smj.2016.2.13593

Ejemplares similares

Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa
por: Nair, Pratibha, et al.
Publicado: (2017)

Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5′ Untranslated Region
por: Nair, Pratibha, et al.
Publicado: (2016)

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

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

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)

Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C
por: Sparago, Angela, 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)

Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants
por: Cardoso, Leila Cabral de Almeida, et al.
Publicado: (2022)

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

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

A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE
por: Hamzeh, Abdul Rezzak, et al.
Publicado: (2017)

Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype
por: Mbuyi-Musanzayi, Sébastien, et al.
Publicado: (2014)

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)

Occurrence of Hepatoblastomas in Patients with Beckwith–Wiedemann Spectrum (BWSp)
por: Klein, Steven D., et al.
Publicado: (2023)

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)

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes
por: Mackay, Deborah J.G., et al.
Publicado: (2019)

A Beckwith–Wiedemann-Associated CDKN1C Mutation Allows the Identification of a Novel Nuclear Localization Signal in Human p57(Kip2)
por: Stampone, Emanuela, et al.
Publicado: (2021)

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

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)

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)

Ultrasound and molecular prenatal diagnosis of Beckwith-Wiedemann syndrome: Two case reports
por: de Vasconcelos Gaspar, Andreia, et al.
Publicado: (2022)

Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay
por: Berland, Siren, et al.
Publicado: (2022)

Identification of a novel CTCF mutation responsible for syndromic intellectual disability – a case report
por: Bastaki, Fatma, et al.
Publicado: (2017)

Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques
por: Carli, Diana, et al.
Publicado: (2022)

Beckwith–Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene
por: Milani, Donatella, et al.
Publicado: (2014)

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)

Cannot write session to /tmp/vufind_sessions/sess_l5bhn56gs6td1d0ajuj9jo3cms