Detection and Characterization of RB1 Mosaicism in Patients With Retinoblastoma Receiving cfDNA Test
Sign Up to like & getrecommendations! Published in 2025 at "JAMA Ophthalmology"
DOI: 10.1001/jamaophthalmol.2025.1079
Abstract: Key Points Question Can a cell-free DNA (cfDNA) assay, when paired with buffy coat genomic DNA testing, detect RB1 mosaicism, and what are the implications for cfDNA testing outcomes? Findings In 136 participants with retinoblastoma… read more here.
Keywords: mosaicism; cfdna; characterization rb1; rb1 mosaicism ... See more keywords
From genetic mosaicism to tumorigenesis through indirect genetic effects
Sign Up to like & getrecommendations! Published in 2024 at "BioEssays"
DOI: 10.1002/bies.202300238
Abstract: Genetic mosaicism has long been linked to aging, and several hypotheses have been proposed to explain the potential connections between mosaicism and susceptibility to cancer. It has been proposed that mosaicism may disrupt tissue homeostasis… read more here.
Keywords: genetic mosaicism; cancer; mosaicism; genetic effects ... See more keywords
Macroscopic Monozygotic Androgenetic/Biparental Mosaicism: Molecular Characterization and Clinical Implications
Sign Up to like & getrecommendations! Published in 2025 at "Genes"
DOI: 10.1002/gcc.70078
Abstract: Hydatidiform moles represent abnormal pregnancies characterized by trophoblastic hyperproliferation. However, accurate diagnosis of partial hydatidiform moles (PHM) remains challenging. We present a rare case of a monozygotic androgenetic/biparental mosaic in a 26‐year‐old primigravida. The patient… read more here.
Keywords: androgenetic biparental; biparental mosaicism; hydatidiform; mosaicism ... See more keywords
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24454
Abstract: Tuberous sclerosis complex (TSC) is a multi‐system genetic disorder. Most patients have germline mutations in TSC1 or TSC2 but, 10%–15% patients do not have TSC1/TSC2 mutations detected on routine clinical genetic testing. We investigated the… read more here.
Keywords: tuberous sclerosis; mosaicism tuberous; mosaicism; tsc1 tsc2 ... See more keywords
A retrospective cohort study and review of the literature about germline mosaicism in Duchenne/Becker muscular dystrophy prenatal counseling: How to estimate the recurrence risk in clinical settings?
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1932
Abstract: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are the most common inherited neuromuscular diseases. Following the identification of a pathogenic causative variant in the DMD gene of a proband, potential carriers can be… read more here.
Keywords: germline mosaicism; dmd; risk; mosaicism ... See more keywords
Monochorionic diamniotic twins of discordant external genitalia with 45,X/46,XY mosaicism
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1382
Abstract: Monozygotic twins with 45,X/46,XY mosaicism, discordant for phenotypic sex, are extremely rare. read more here.
Keywords: twins discordant; mosaicism; monochorionic diamniotic; external genitalia ... See more keywords
ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.361
Abstract: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder caused by mutations in ENG, ACVRL1, or SMAD4. Around 90% of HHT patients present with a heterozygous pathogenic genetic variation. Almost all cases of HHT… read more here.
Keywords: hereditary hemorrhagic; mosaicism; mutational mosaicism; hemorrhagic telangiectasia ... See more keywords
A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders
Sign Up to like & getrecommendations! Published in 2017 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5156
Abstract: De novo mutations contribute significantly to severe early‐onset genetic disorders. Even if the mutation is apparently de novo, there is a recurrence risk due to parental germ line mosaicism, depending on in which gonadal generation… read more here.
Keywords: recurrence risk; novel approach; recurrence; mosaicism ... See more keywords
Mosaicism in Fanconi anemia: concise review and evaluation of published cases with focus on clinical course of blood count normalization
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Hematology"
DOI: 10.1007/s00277-020-03954-2
Abstract: Fanconi anemia (FA) is a DNA repair disorder resulting from mutations in genes encoding for FA DNA repair complex components and is characterized by variable congenital abnormalities, bone marrow failure (BMF), and high incidences of… read more here.
Keywords: mosaicism; blood count; blood; count normalization ... See more keywords
Genetic basis of neurofibromatosis type 1 and related conditions, including mosaicism
Sign Up to like & getrecommendations! Published in 2020 at "Child's Nervous System"
DOI: 10.1007/s00381-020-04771-8
Abstract: Introduction Neurofibromatosis type 1 (NF1) is a frequent autosomal dominant disorder characterised by café-au-lait maculae (CALM), skinfold freckling, iris Lisch nodules and benign peripheral nerve sheath tumours (neurofibromas). Mechanism The NF1 gene is a tumour… read more here.
Keywords: mosaicism; gene; neurofibromatosis type; surveillance ... See more keywords
Which type of chromosomal mosaicism is compatible for embryo transfer: a systematical review and meta-analysis
Sign Up to like & getrecommendations! Published in 2022 at "Archives of Gynecology and Obstetrics"
DOI: 10.1007/s00404-022-06511-6
Abstract: Chromosomal mosaicism becomes a common phenomenon in Preimplantaion genetic testing (PGT). This meta-analysis was conducted to study which feature of chromosomal mosaicism was compatible for embryo transfer. After searching the database PubMed, Embase, CCTR and… read more here.
Keywords: mosaicism; chromosomal mosaicism; chr chr; meta analysis ... See more keywords