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
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
Genome sequencing of a novel variant of fowl adenovirus B reveals mosaicism in the pattern of homologous recombination events
Sign Up to like & getrecommendations! Published in 2021 at "Archives of Virology"
DOI: 10.1007/s00705-021-04972-9
Abstract: We determined the genomic sequence of a Ukrainian strain of fowl adenovirus B (FAdV-B). The isolate (D2453/1) shared 97.2% to 98.4% nucleotide sequence identity with other viruses belonging to the species Fowl aviadenovirus B. Marked… read more here.
Keywords: mosaicism; recombination; recombination events; fowl adenovirus ... See more keywords
Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.
Sign Up to like & getrecommendations! Published in 2017 at "Bone"
DOI: 10.1016/j.bone.2017.04.010
Abstract: Melorheostosis (MEL) is the rare sporadic dysostosis characterized by monostotic or polyostotic osteosclerosis and hyperostosis often distributed in a sclerotomal pattern. The prevailing hypothesis for MEL invokes postzygotic mosaicism. Sometimes scleroderma-like skin changes, considered a… read more here.
Keywords: implicates postzygotic; exome sequencing; mosaicism; postzygotic mosaicism ... See more keywords
Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma.
Sign Up to like & getrecommendations! Published in 2017 at "Cancer genetics"
DOI: 10.1016/j.cancergen.2017.07.001
Abstract: Choroid plexus tumors (CPT) constitute 2%-5% of all pediatric brain tumors and include high grade choroid plexus carcinoma (CPC). About 40% of CPC patients harbor germline TP53 mutations, associated with diminished survival rates. However, the… read more here.
Keywords: choroid plexus; tp53 mutation; mosaicism; novo tp53 ... See more keywords
Pigmentary Mosaicism.
Sign Up to like & getrecommendations! Published in 2022 at "Clinics in dermatology"
DOI: 10.1016/j.clindermatol.2022.02.005
Abstract: Pigmentary mosaicism refers to patterned hypo- and/or hyperpigmentation that results from genetic heterogeneity of skin cells. The most common clinical patterns are streaks and swirls following Blaschko's lines in narrow or broad bands and a… read more here.
Keywords: mosaicism; pigmentary mosaicism;