Cargando…

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

BACKGROUND: Imprinting disorders are a group of congenital diseases which are characterized by molecular alterations affecting differentially methylated regions (DMRs). To date, at least twelve imprinting disorders have been defined with overlapping but variable clinical features including growth an...

Descripción completa

Detalles Bibliográficos
Autores principales:	Eggermann, Thomas, Yapici, Elzem, Bliek, Jet, Pereda, Arrate, Begemann, Matthias, Russo, Silvia, Tannorella, Pierpaola, Calzari, Luciano, de Nanclares, Guiomar Perez, Lombardi, Paola, Temple, I. Karen, Mackay, Deborah, Riccio, Andrea, Kagami, Masayo, Ogata, Tsutomu, Lapunzina, Pablo, Monk, David, Maher, Eamonn R., Tümer, Zeynep
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8928698/ https://www.ncbi.nlm.nih.gov/pubmed/35296332 http://dx.doi.org/10.1186/s13148-022-01259-x

Ejemplares similares

Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach
por: Bilo, Larissa, et al.
Publicado: (2023)

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
por: Mackay, Deborah, et al.
Publicado: (2022)

Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progeny
por: Tannorella, Pierpaola, et al.
Publicado: (2022)

What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis
por: Pereda, Arrate, et al.
Publicado: (2018)

Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci
por: Eggermann, Thomas, et al.
Publicado: (2016)

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci
por: Eggermann, Thomas, et al.
Publicado: (2015)

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome
por: Eggermann, Katja, et al.
Publicado: (2016)

Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2
por: Vado, Yerai, 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)

Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?
por: Manero-Azua, Africa, et al.
Publicado: (2023)

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

Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome
por: Kagami, Masayo, et al.
Publicado: (2017)

Novel Variant in PLAG1 in a Familial Case with Silver–Russell Syndrome Suspicion
por: Vado, Yerai, et al.
Publicado: (2020)

Brachydactyly E: isolated or as a feature of a syndrome
por: Pereda, Arrate, et al.
Publicado: (2013)

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care
por: Eggermann, Thomas, et al.
Publicado: (2015)

ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance
por: Kagami, Masayo, et al.
Publicado: (2021)

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans
por: Docherty, Louise E., et al.
Publicado: (2015)

Plasma Homocysteine and Polymorphisms of Genes Involved in Folate Metabolism Correlate with DNMT1 Gene Methylation Levels
por: Coppedè, Fabio, et al.
Publicado: (2019)

Case report: a typical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum
por: Vimercati, Alessandro, et al.
Publicado: (2023)

Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report
por: Vado, Yerai, et al.
Publicado: (2018)

Sporadic Creutzfeldt–Jakob disease with extremely long 14‐year survival period
por: Kortazar‐Zubizarreta, Izaro, et al.
Publicado: (2021)

Molecular Mechanisms Leading to the Phenotypic Development in Paternal and Maternal Uniparental Disomy for Chromosome 14
por: Ogata, Tsutomu, et al.
Publicado: (2008)

Kagami–Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region
por: Ogata, Tsutomu, et al.
Publicado: (2016)

Association of Polymorphisms in Genes Involved in One-Carbon Metabolism with MTHFR Methylation Levels
por: Coppedè, Fabio, et al.
Publicado: (2019)

Target Height and Target Range for Japanese Children: Revisited
por: Ogata, Tsutomu, et al.
Publicado: (2007)

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)

Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances
por: Pignata, Laura, et al.
Publicado: (2022)

Unusual deletion of the maternal 11p15 allele in Beckwith–Wiedemann syndrome with an impact on both imprinting domains
por: Eggermann, Thomas, et al.
Publicado: (2021)

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
por: Begemann, Matthias, et al.
Publicado: (2018)

Description of the first Spanish case of Gerstmann–Sträussler–Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization
por: Eraña, Hasier, et al.
Publicado: (2022)

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

Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update
por: McGuigan, Anthony, et al.
Publicado: (2022)

Multilocus DNA barcoding – Species Identification with Multilocus Data
por: Liu, Junning, et al.
Publicado: (2017)

A Pilot Study Evaluating the Contribution of SLC19A1 (RFC-1) 80G>A Polymorphism to Alzheimer's Disease in Italian Caucasians
por: Coppedè, Fabio, et al.
Publicado: (2014)

Mosaic upd(14)pat in a patient with mild features of Kagami–Ogata syndrome
por: Haug, Marte G., et al.
Publicado: (2017)

Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype
por: Kagami, Masayo, et al.
Publicado: (2012)

Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome)
por: Kagami, Masayo, et al.
Publicado: (2015)

Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis
por: Aguilera-Albesa, Sergio, et al.
Publicado: (2020)

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

Search for altered imprinting marks in Mayer–Rokitansky–Küster–Hauser patients
por: Eggermann, Thomas, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_960bssdntqhqnvti53h1dj96k4