Cargando…

Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype

INTRODUCTION: We report a 34-year-old Japanese female with a Silver-Russell syndrome (SRS)-like phenotype and a mosaic Turner syndrome karyotype (45,X/46,XX). METHODS/RESULTS: Molecular studies including methylation analysis of 17 differentially methylated regions (DMRs) on the autosomes and the XIS...

Descripción completa

Detalles Bibliográficos
Autores principales:	Yamazawa, K, Nakabayashi, K, Kagami, M, Sato, T, Saitoh, S, Horikawa, R, Hizuka, N, Ogata, T
Formato:	Texto
Lenguaje:	English
Publicado:	BMJ Group 2010
Materias:	Short Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2976035/ https://www.ncbi.nlm.nih.gov/pubmed/20685670 http://dx.doi.org/10.1136/jmg.2010.079343

Ejemplares similares

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

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

Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology
por: Inoue, Takanobu, et al.
Publicado: (2019)

Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients
por: Inoue, Takanobu, et al.
Publicado: (2020)

Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects
por: Inoue, Takanobu, et al.
Publicado: (2017)

Silver–Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis
por: Luk, Ho‐Ming, et al.
Publicado: (2016)

Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum
por: Fuke, Tomoko, et al.
Publicado: (2020)

Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome
por: Yamazawa, Kazuki, et al.
Publicado: (2021)

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver–Russell Syndrome-compatible phenotype
por: Kagami, Masayo, et al.
Publicado: (2015)

Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions
por: Matsubara, Keiko, et al.
Publicado: (2015)

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

Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia
por: Masunaga, Yohei, et al.
Publicado: (2021)

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)

Silver: Russell Syndrome with Cryptorchidism
por: Reddy, H Babul, 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)

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

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

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

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

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

Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome
por: Hattori, Atsushi, et al.
Publicado: (2022)

Single-born XX /XY chimaeric bulls with normal phenotype
por: Kovacs, A, et al.
Publicado: (1977)

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

HIV-1 sub-type C chimaeric VLPs boost cellular immune responses in mice
por: Pillay, Sirika, et al.
Publicado: (2010)

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

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)

Familial Russell–Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case
por: Sabir, A. H., et al.
Publicado: (2019)

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)

Direct Injection of CRISPR/Cas9-Related mRNA into Cytoplasm of Parthenogenetically Activated Porcine Oocytes Causes Frequent Mosaicism for Indel Mutations
por: Sato, Masahiro, et al.
Publicado: (2015)

Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7
por: Ziegler, Marvin, et al.
Publicado: (2020)

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

The provenance of cells in sarcomas induced in chimaeric mice.
por: Ansell, J. D., et al.
Publicado: (1986)

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

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

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

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

Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes
por: Baba, Naomi, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_vl5l658djv7dtvv26k6buit9jb