Cargando…

Genome‐wide DNA methylation profiling confirms a case of low‐level mosaic Kabuki syndrome 1

Kabuki syndrome is a Mendelian disorder of the epigenetic machinery characterized by typical dysmorphic features, intellectual disability, and postnatal growth deficiency. Pathogenic variants in the genes encoding the chromatin modifiers KMT2D and KDM6A are responsible for Kabuki syndrome 1 (KS1) an...

Descripción completa

Detalles Bibliográficos
Autores principales:	Montano, Carolina, Britton, Jacquelyn F., Harris, Jacqueline R., Kerkhof, Jennifer, Barnes, Benjamin T., Lee, Jennifer A., Sadikovic, Bekim, Sobreira, Nara, Fahrner, Jill A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2022
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9321966/ https://www.ncbi.nlm.nih.gov/pubmed/35384273 http://dx.doi.org/10.1002/ajmg.a.62754

Ejemplares similares

Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature
por: McConkey, Haley, et al.
Publicado: (2022)

Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders
por: Haghshenas, Sadegheh, et al.
Publicado: (2020)

Neurobehavioral phenotype of Kabuki syndrome: Anxiety is a common feature
por: Kalinousky, Allison J., et al.
Publicado: (2022)

DNA Methylation Episignatures in Neurodevelopmental Disorders Associated with Large Structural Copy Number Variants: Clinical Implications
por: Rooney, Kathleen, et al.
Publicado: (2022)

DIAMUND: Direct Comparison of Genomes to Detect Mutations
por: Salzberg, Steven L, et al.
Publicado: (2014)

Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association
por: Kumar, Jeevan M., et al.
Publicado: (2011)

Examining the Diagnostic Yield of Tumour Testing and Qualifying Germline Concordance for Hereditary Cancer Variants in Patients with High-Grade Serous Carcinoma
por: Goebel, Emily A., et al.
Publicado: (2022)

Kabuki Syndrome with Cleft Palate
por: Paik, Joo Myong, et al.
Publicado: (2016)

Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
por: Haghshenas, Sadegheh, et al.
Publicado: (2021)

Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?
por: Harris, Jacqueline R., et al.
Publicado: (2023)

Anatomical and functional abnormalities on MRI in kabuki syndrome
por: Boisgontier, Jennifer, et al.
Publicado: (2018)

Genetic and epigenetic profiling of BRCA1/2 in ovarian tumors reveals additive diagnostic yield and evidence of a genomic BRCA1/2 DNA methylation signature
por: Aref-Eshghi, Erfan, et al.
Publicado: (2020)

Kabuki syndrome and its anaesthetic management
por: Roy, Debashis, et al.
Publicado: (2011)

Kabuki syndrome: clinical and molecular characteristics
por: Cheon, Chong-Kun, et al.
Publicado: (2015)

Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis
por: Gürbüz, Fatih, et al.
Publicado: (2016)

Neurobehavioral features in individuals with Kabuki syndrome
por: Caciolo, Cristina, et al.
Publicado: (2018)

Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature
por: Lepri, Francesca Romana, et al.
Publicado: (2017)

Strabismus and Poor Stereoacuity Associated with Kabuki Syndrome
por: Kim, Nam Gil, et al.
Publicado: (2011)

Anesthesia Management in a Patient with Kabuki Syndrome
por: Atalay, Yunus Oktay, et al.
Publicado: (2014)

Kabuki Syndrome: A Rare Clinical Presentation
por: Wankar, Abhishek D.
Publicado: (2020)

Kabuki Syndrome—Clinical Review with Molecular Aspects
por: Boniel, Snir, et al.
Publicado: (2021)

A Case of SF3B1-Positive Myelodysplastic/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis
por: Lazo-Langner, Alejandro, et al.
Publicado: (2019)

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
por: Sadikovic, Bekim, et al.
Publicado: (2021)

Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
por: Sadikovic, Bekim, et al.
Publicado: (2021)

In Vitro Analysis of Integrated Global High-Resolution DNA Methylation Profiling with Genomic Imbalance and Gene Expression in Osteosarcoma
por: Sadikovic, Bekim, et al.
Publicado: (2008)

Recurrent Dislocation of the Patella in Kabuki Make-Up Syndrome
por: Rouffiange, Lucie, et al.
Publicado: (2012)

Kabuki Make-Up Syndrome with Bilateral Dislocation of the Hip
por: Elmouhtadi, Aghoutane, et al.
Publicado: (2013)

Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment
por: Siminas, Sotirios, et al.
Publicado: (2015)

Exploring the cognitive phenotype of Kabuki (Niikawa–Kuroki) syndrome
por: van Dongen, L. C. M., et al.
Publicado: (2019)

Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome
por: Lim, Chaemoon, et al.
Publicado: (2019)

A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome
por: Mısırlıgil, Mina, et al.
Publicado: (2021)

From Genotype to Phenotype—A Review of Kabuki Syndrome †
por: Barry, Kelly K., et al.
Publicado: (2022)

Complexity in Genetic Epilepsies: A Comprehensive Review
por: Rastin, Cassandra, et al.
Publicado: (2023)

The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13‐related disorder
por: Marwaha, Ashish, et al.
Publicado: (2022)

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome
por: Foroutan, Aidin, et al.
Publicado: (2022)

Autoimmune haematological disorders in two Italian children with Kabuki Syndrome
por: Giordano, Paola, et al.
Publicado: (2014)

Kabuki syndrome and perisylvian cortical dysplasia in a Turkish girl
por: Topcu, Yasemin, et al.
Publicado: (2013)

The strong association of left-side heart anomalies with Kabuki syndrome
por: Yoon, Ja Kyoung, et al.
Publicado: (2015)

Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment
por: Schott, Dina A., et al.
Publicado: (2018)

Longitudinal Cognitive and Behavioral Presentation of Adult Female with Kabuki Syndrome
por: Ventola, Pamela, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_83fd6765jm1fa2cfqkarugntmv