Université Pierre-et-Marie-Curie
46 imported, source-linked research records. All imported publication dates.
46 matching research records
Topic: Somatic mosaicism. Only records linked to Université Pierre-et-Marie-Curie are included. Historical ingestion is still running; these are imported records, not a count of all research worldwide.
Showing 1–46 of 46 matching records. Counts update as records arrive.
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia
March 11, 2026 · 2 citations · Open access
Open original record →Clinical Features and Genomic Landscape of Myeloproliferative Neoplasm (MPN) Patients with Autoimmune and Inflammatory Diseases (AID)
February 7, 2023 · 0 citations · Open access
Open original record →Non-IDH1-R132H IDH1/2 mutations are associated with increased DNA methylation and improved survival in astrocytomas, compared to IDH1-R132H mutations
March 19, 2021 · 61 citations · Open access
Open original record →Unraveling the features of somatic transposition in the Drosophila intestine
February 26, 2021 · 56 citations · Open access
Open original record →Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder
February 20, 2021 · 2 citations · Open access
Open original record →Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene
December 18, 2020 · 13 citations · Open access
Open original record →DNA methylation and survival differences associated with the type of IDH mutation in 1p/19q non-codeleted astrocytomas
December 11, 2020 · 0 citations · Open access
Open original record →Molecular tumor testing in patients with Lynch-like syndrome reveals a de novo mosaic variant of a mismatch repair gene transmitted to offspring
July 16, 2020 · 21 citations · Open access
Open original record →Somatic transposition in the Drosophila intestine occurs in active chromatin and is associated with tumor suppressor gene inactivation
July 10, 2020 · 0 citations
Open original record →Acute knockdown of Depdc5 leads to synaptic defects in mTOR-related epileptogenesis
February 27, 2020 · 38 citations · Open access
Open original record →Stem Cell DNA Damage and Genome Mutation in the Context of Aging and Cancer Initiation
January 13, 2020 · 40 citations · Open access
Open original record →Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
October 2, 2019 · 42 citations · Open access
Open original record →Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature
September 12, 2019 · 60 citations · Open access
Open original record →Dissecting the genetic basis of focal cortical dysplasia: a large cohort study
August 23, 2019 · 374 citations · Open access
Open original record →Autoinflammatory diseases: State of the art
January 25, 2019 · 82 citations · Open access
Open original record →IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
September 10, 2018 · 63 citations · Open access
Open original record →C01 Glutamine codon usage and somatic mosaicism of the HTT cag repeat are modifiers of huntington disease severity
September 1, 2018 · 0 citations
Open original record →A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers
August 31, 2018 · 51 citations · Open access
Open original record →Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias
May 30, 2018 · 39 citations · Open access
Open original record →Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
January 29, 2018 · 622 citations · Open access
Open original record →Mitochondrial Deficiencies in the Predisposition to Paraganglioma
May 4, 2017 · 26 citations · Open access
Open original record →Mosaicism and prenatal diagnosis options: insights from retinoblastoma
December 21, 2016 · 22 citations · Open access
Open original record →Characteristics of gliomas in patients with somatic IDH mosaicism
March 31, 2016 · 43 citations · Open access
Open original record →Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study
February 5, 2016 · 157 citations · Open access
Open original record →Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling
October 28, 2015 · 65 citations · Open access
Open original record →Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency
June 29, 2015 · 101 citations · Open access
Open original record →Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents
June 25, 2015 · 99 citations · Open access
Open original record →Inflammation in Parkinson’s disease: role of glucocorticoids
April 2, 2015 · 178 citations · Open access
Open original record →Proceedings of the fourth international conference on central hypoventilation
December 1, 2014 · 18 citations · Open access
Open original record →Ulysses: accurate detection of low-frequency structural variations in large insert-size sequencing libraries
November 7, 2014 · 21 citations · Open access
Open original record →Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation
July 18, 2014 · 42 citations · Open access
Open original record →Heterozygous FA2H mutations in autism spectrum disorders
December 1, 2013 · 8 citations · Open access
Open original record →Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients withGNASEpimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b
May 6, 2013 · 58 citations · Open access
Open original record →Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria
September 5, 2012 · 67 citations · Open access
Open original record →Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient
August 4, 2012 · 93 citations · Open access
Open original record →ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension
June 8, 2011 · 31 citations
Open original record →Congenital neutropenia: diagnosis, molecular bases and patient management
January 1, 2011 · 215 citations · Open access
Open original record →Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome
June 1, 2010 · 159 citations · Open access
Open original record →LIS1-Related Isolated Lissencephaly
August 1, 2009 · 108 citations · Open access
Open original record →Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
April 3, 2009 · 45 citations · Open access
Open original record →Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
February 13, 2009 · 380 citations · Open access
Open original record →Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase
January 20, 2009 · 386 citations · Open access
Open original record →Sex‐specific expression of SOX9 during gonadogenesis in the amphibian Xenopus tropicalis
September 24, 2008 · 46 citations · Open access
Open original record →PHOX2B Germline and Somatic Mutations in Late-Onset Central Hypoventilation Syndrome
December 13, 2007 · 91 citations
Open original record →A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP
June 27, 2007 · 25 citations
Open original record →P element regulatory products enhance zeste repression of a P[white duplicated] transgene in Drosophila melanogaster.
December 1, 1990 · 17 citations · Open access
Open original record →