Cargando…

MED13L-related intellectual disability due to paternal germinal mosaicism

The MED13L-related intellectual disability or MRFACD syndrome (Mental retardation and distinctive facial features with or without cardiac defects; MIM # 616789) is one of the most common forms of syndromic intellectual disability with about a hundred cases reported so far. Affected individuals share...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bessenyei, Beáta, Balogh, István, Mokánszki, Attila, Ujfalusi, Anikó, Pfundt, Rolph, Szakszon, Katalin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory Press 2022
Materias:	Research Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8744498/ https://www.ncbi.nlm.nih.gov/pubmed/34654706 http://dx.doi.org/10.1101/mcs.a006124

Ejemplares similares

Helsmoortel–Van der Aa Syndrome—Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies
por: Szabó, Tímea Margit, et al.
Publicado: (2022)

Cytogenetic Investigation of Infertile Patients in Hungary: A 10-Year Retrospective Study
por: Andó, Szilvia, et al.
Publicado: (2022)

Examination of Y-Chromosomal Microdeletions and Partial Microdeletions in Idiopathic Infertility in East Hungarian Patients
por: Mokánszki, Attila, et al.
Publicado: (2018)

Four New Cases of Hypomyelinating Leukodystrophy Associated with the UFM1 c.-155_-153delTCA Founder Mutation in Pediatric Patients of Roma Descent in Hungary
por: Szűcs, Zsuzsanna, et al.
Publicado: (2021)

A Patient with Moderate Intellectual Disability and 49, XXXYY Karyotype
por: Verhoeven, Willem M A, et al.
Publicado: (2022)

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
por: Maia, Nuno, et al.
Publicado: (2022)

Deep Molecular and In Silico Protein Analysis of p53 Alteration in Myelodysplastic Neoplasia and Acute Myeloid Leukemia
por: Madarász, Kristóf, et al.
Publicado: (2022)

A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?
por: Verhoeven, Willem, et al.
Publicado: (2019)

Exome Sequencing Identifies Three Novel Candidate Genes Implicated in Intellectual Disability
por: Agha, Zehra, et al.
Publicado: (2014)

A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability
por: Verhoeven, Willem M A, et al.
Publicado: (2020)

Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability
por: Willems, Anke P., et al.
Publicado: (2017)

Myoclonic-Atonic Epilepsy Caused by a Novel de Novo Heterozygous Missense Variant in the SLC6A1 Gene: Brief Discussion of the Literature and Detailed Case Description of a Severely Intellectually Disabled Adult Male Patient
por: Verhoeven, Willem, et al.
Publicado: (2022)

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
por: Ito, Yoko, et al.
Publicado: (2018)

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability
por: Francis, David I., et al.
Publicado: (2022)

A novel MED12 mutation associated with non-specific X-linked intellectual disability
por: Yamamoto, Toshiyuki, et al.
Publicado: (2015)

Novel mutation in the MED23 gene for intellectual disability: A case report and literature review
por: Hashemi‐Gorji, Feyzollah, et al.
Publicado: (2019)

Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders
por: Srivastava, Siddharth, et al.
Publicado: (2019)

Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil
por: Leite, Ana Julia da Cunha, et al.
Publicado: (2022)

A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability
por: Zada, Almira, et al.
Publicado: (2014)

Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants
por: Frisk, Sofia, et al.
Publicado: (2022)

Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability
por: Yi, Zhi, et al.
Publicado: (2020)

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study
por: Mundhofir, Farmaditya E. P., et al.
Publicado: (2013)

Preliminary Pilot-Testing of Social Determinants of Health Screener for Individuals With Intellectual and Developmental Disabilities in Med-Peds
por: Hotez, Emily, et al.
Publicado: (2023)

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome
por: Werren, Elizabeth, et al.
Publicado: (2023)

Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes
por: Rahman, Muhammad M., et al.
Publicado: (2019)

Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling–case report
por: Abreu, Maria, et al.
Publicado: (2023)

A Novel Method for the Evaluation of Bone Marrow Samples from Patients with Pediatric B-Cell Acute Lymphoblastic Leukemia—Multidimensional Flow Cytometry
por: Kárai, Bettina, et al.
Publicado: (2021)

Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism
por: Tung, Joanna Yuet-ling, et al.
Publicado: (2020)

An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient
por: Szűcs, Zsuzsanna, et al.
Publicado: (2022)

An intellectual disability-related MED23 mutation dysregulates gene expression by altering chromatin conformation and enhancer activities
por: Yang, Yenan, et al.
Publicado: (2023)

Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review
por: Kozma, Kinga, et al.
Publicado: (2021)

Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability
por: Zhang, Shujie, et al.
Publicado: (2016)

Correction to ‘An intellectual disability-related MED23 mutation dysregulates gene expression by altering chromatin conformation and enhancer activities’
Publicado: (2023)

Paternal Low-Level Mosaicism-Caused SATB2-Associated Syndrome
por: Qian, Yeqing, et al.
Publicado: (2019)

Intellectual disabilities and yoga
por: Singh, Satendra
Publicado: (2013)

Anesthesia for intellectually disabled
por: Chaudhary, Kapil, et al.
Publicado: (2017)

Intellectual Disability and Parenthood
por: Kandel, Isack, et al.
Publicado: (2005)

Intellectual disability and antipsychotics
por: Iñiguez, I. Cuevas, et al.
Publicado: (2021)

Nymphomania with intellectual disability
por: Sharma, Mini, et al.
Publicado: (2022)

The Genetics of Intellectual Disability
por: Jansen, Sandra, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_7jio3f1d7123qff0fb3uukpi64