Université Paris Diderot
32 imported, source-linked research records. All imported publication dates.
32 matching research records
Topic: Somatic mosaicism. Only records linked to Université Paris Diderot are included. Historical ingestion is still running; these are imported records, not a count of all research worldwide.
Showing 1–32 of 32 matching records. Counts update as records arrive.
Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies
January 12, 2026 · 5 citations · Open access
Open original record →Strategies for early detection and detailed characterization of oral lesions and head and neck squamous cell carcinoma in Fanconi anemia patients
March 5, 2025 · 5 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 →Clonal hematopoiesis driven by chromosome 1q/MDM4 trisomy defines a canonical route toward leukemia in Fanconi anemia
February 1, 2023 · 79 citations · Open access
Open original record →Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee
June 24, 2022 · 1,196 citations · Open access
Open original record →250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6–8 September 2019, Hoofdorp, the Netherlands
August 15, 2020 · 11 citations · Open access
Open original record →Advances in molecular classification and precision oncology in hepatocellular carcinoma
January 15, 2020 · 609 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 →Current and innovative emerging therapies for porphyrias with hepatic involvement
May 15, 2019 · 36 citations · Open access
Open original record →Darwinian selection within an individual or somatic selection: facts and models
February 18, 2019 · 4 citations · Open access
Open original record →Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia
March 29, 2018 · 45 citations · Open access
Open original record →Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia
January 23, 2017 · 24 citations · Open access
Open original record →Transplantation for bone marrow failure: current issues
December 2, 2016 · 54 citations · Open access
Open original record →The genetics and neurobiology of ESSENCE: The third Birgit Olsson lecture
May 14, 2015 · 17 citations · Open access
Open original record →Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain
January 1, 2015 · 9 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 →Pulmonary fibrosis associated withTINF2gene mutation: is somatic reversion required?
June 30, 2014 · 16 citations · Open access
Open original record →Heterozygous FA2H mutations in autism spectrum disorders
December 1, 2013 · 8 citations · Open access
Open original record →HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes
August 30, 2013 · 1,945 citations · Open access
Open original record →Neurofibromatosis type 2 in the elderly population: Clinical and molecular features
January 15, 2013 · 13 citations
Open original record →Late-Onset X-Linked Dominant Protoporphyria: An Etiology of Photosensitivity in the Elderly
December 6, 2012 · 15 citations · Open access
Open original record →Incidence of liver abnormalities in Fanconi anemia patients
February 15, 2012 · 35 citations · Open access
Open original record →Spontaneous abrogation of the G2 DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients
December 23, 2010 · 66 citations · Open access
Open original record →Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib
October 23, 2010 · 57 citations · Open access
Open original record →NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype
May 10, 2010 · 245 citations · Open access
Open original record →Recent insights into cerebral cavernous malformations: the molecular genetics of CCM
January 22, 2010 · 186 citations · Open access
Open original record →Osteopathia striata with cranial sclerosis owing to WTX gene defect
July 6, 2009 · 75 citations · Open access
Open original record →Diagnosis of Fanconi anemia in patients with bone marrow failure
March 10, 2009 · 96 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 →PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study
August 1, 2006 · 71 citations · Open access
Open original record →Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene
January 1, 1999 · 104 citations · Open access
Open original record →Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of type I collagen in a recurrent lethal type II osteogenesis imperfecta dramatically affects the mineralization of bone.
May 1, 1994 · 29 citations · Open access
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