Cargando…

The clinical and molecular genetic study of 20 Silver Russell Syndrome cases

Detalles Bibliográficos
Autores principales:	Gong, Chunxiu, Zhu, Ming-Qiang, Wu, Di, Cao, Bingyan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2013
Materias:	Poster Presentation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3850442/ http://dx.doi.org/10.1186/1687-9856-2013-S1-P45

Ejemplares similares

Clinical characteristics and imprinting analysis of Chinese Silver Russell Syndrome
por: Wu, Di, et al.
Publicado: (2015)

Analysis of clinical and genetic features among 12 neonatal diabetes mellitus
por: Bingyan, Cao, et al.
Publicado: (2013)

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

Silver-Russell syndrome: genetic basis and molecular genetic testing
por: Eggermann, Thomas, et al.
Publicado: (2010)

Clinical spectrum of Silver - Russell syndrome
por: Varma, Sapna N.K., et al.
Publicado: (2013)

Glucose fluctuations in association with oxidative stress among children with type 1 diabetes mellitus: comparison of different phases
por: Meng, Xi, et al.
Publicado: (2015)

Silver: Russell Syndrome with Cryptorchidism
por: Reddy, H Babul, et al.
Publicado: (2013)

Molecular and Clinical Studies in 138 Japanese Patients with Silver-Russell Syndrome
por: Fuke, Tomoko, et al.
Publicado: (2013)

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

Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood
por: Lokulo-Sodipe, Oluwakemi, et al.
Publicado: (2020)

Silver-Russell Syndrome: A Case Report
por: Kumar, Sunil, et al.
Publicado: (2008)

Epigenotype–phenotype correlations in Silver–Russell syndrome
por: Wakeling, E L, et al.
Publicado: (2010)

Clinical Application of Sequential Epigenetic Analysis for Diagnosis of Silver–Russell Syndrome
por: Kim, Soo Yeon, et al.
Publicado: (2021)

Russell–Silver syndrome associated with low conus medullaris
por: Gabor, Larisa, et al.
Publicado: (2016)

An Unusual Association: Silver-Russell Syndrome and Ectopic Thyroid
por: Lahmamssi, Fatima-Zahra, et al.
Publicado: (2022)

Executive functioning in adolescents and adults with Silver-Russell syndrome
por: Burgevin, Mélissa, et al.
Publicado: (2023)

Silver-Russell syndrome: clinical, neurodevelopmental and communication characteristics: clinical case studies
por: Ribeiro, Eduarda Hanna Porto, et al.
Publicado: (2021)

Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes
por: Crippa, Milena, et al.
Publicado: (2019)

A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver–Russell syndrome
por: Goto, Masahide, et al.
Publicado: (2016)

Orthodontic Management of Silver-Russell Syndrome. A Case Report
por: Ioannidou-Marathiotou, Ioulia, et al.
Publicado: (2012)

Uncovering common pathogenic transcriptional dysregulations in Silver-Russell syndrome
por: Bohne, Florian, et al.
Publicado: (2014)

Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver–Russell Syndrome
por: Lin, Hsiang-Yu, et al.
Publicado: (2021)

Maternal UPD of chromosome 7 in a patient with Silver‐Russell syndrome and Pendred syndrome
por: Zhang, Chuan, et al.
Publicado: (2020)

Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases
por: Tannorella, Pierpaola, et al.
Publicado: (2021)

Prosthetic management of a growing patient with Russell-Silver syndrome: a clinical report
por: Kim, Kanghyun, et al.
Publicado: (2015)

Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype
por: Yamazawa, K, et al.
Publicado: (2010)

Seminoma in a Man with Russell-Silver Syndrome Presenting with Testicular Torsion
por: Funada, Satoshi, et al.
Publicado: (2016)

Correction of the axial and appendicular deformities in a patient with Silver-Russel syndrome
por: Al Kaissi, Ali, et al.
Publicado: (2015)

Behavioural abnormalities in a novel mouse model for Silver Russell Syndrome
por: McNamara, Grainne Iseult, et al.
Publicado: (2016)

Chronic Hypercapnic Respiratory Failure in an Adult Patient with Silver-Russell Syndrome
por: Hakamata, Mariko, et al.
Publicado: (2021)

Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes
por: Sachwitz, Jana, et al.
Publicado: (2016)

First Genetic Screening for Maternal Uniparental Disomy of Chromosome 7 in Turkish Silver-Russell Syndrome Patients
por: Karaca, Emin, et al.
Publicado: (2012)

Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome
por: Chang, Suhee, et al.
Publicado: (2020)

ODP373 A Tale of Two Syndromes: Coexistence of Russell-Silver and Klinefelter Syndrome
por: Pillai, Chanthu
Publicado: (2022)

Russell Silver syndrome: a perspective on growth and the influence of growth hormone therapy
por: Mascarenhas, J. V., et al.
Publicado: (2012)

Mosaic UPD(7q)mat in a patient with silver Russell syndrome
por: Su, Jiasun, et al.
Publicado: (2017)

Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome
por: Pignata, Laura, et al.
Publicado: (2021)

Genome-wide methylation analysis in Silver–Russell syndrome, Temple syndrome, and Prader–Willi syndrome
por: Hara-Isono, Kaori, et al.
Publicado: (2020)

Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases
por: LI, WENJING, et al.
Publicado: (2015)

Clinical and genetic characteristics of hypophosphatasia in Chinese children
por: Liu, Meijuan, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_l4v6a4hrcoi7uqvr87fknc3beh