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Academic Journal

Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome.

  • Authors : Bai T; Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, China.

Subjects: Mosaicism* ; CHARGE Syndrome*/CHARGE Syndrome*/CHARGE Syndrome*/diagnosis ; CHARGE Syndrome*/CHARGE Syndrome*/CHARGE Syndrome*/genetics

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Apr; Vol. 194 (4), pp. e63491. Date of Electronic Publication: 2023 Dec 06.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.

  • Authors : Trevisan V; Centre for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168 Rome, Italy.; Genomic Medicine, Department of Life Sciences and Public Health, Catholic University of the Sacred Heart, 00168 Rome, Italy.

Subjects: Mosaicism* ; Prenatal Diagnosis* ; Uniparental Disomy* Chromosome 22, trisomy; Trisomy 22 mosaicism syndrome

  • Source: Genes [Genes (Basel)] 2024 Mar 08; Vol. 15 (3). Date of Electronic Publication: 2024 Mar 08.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425

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Report

Incidental detection of familial 8p23.2 microduplication encompassing CSMD1 associated with mosaic 46,XY,t(7;8)(q31.2;p23.1)/46,XY at amniocentesis in a pregnancy with no apparent phenotypic abnormality and a favorable outcome.

  • Authors : Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan

Subjects: Amniocentesis* ; Mosaicism*; Pregnancy

  • Source: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 Mar; Vol. 63 (2), pp. 245-249.Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Fusobacterium nucleatum subsp. polymorphum recovered from malignant and potentially malignant oral disease exhibit heterogeneity in adhesion phenotypes and adhesin gene copy number, shaped by inter-subspecies horizontal gene transfer and recombination-derived mosaicism.

  • Authors : Crowley C; Division of Oral Biosciences, Dublin Dental University Hospital and School of Dental Science, Trinity College Dublin, Dublin, Ireland.; Selvaraj A

Subjects: Mosaicism* ; Gene Transfer, Horizontal*; Humans Fusobacterium nucleatum subsp. polymorphum

  • Source: Microbial genomics [Microb Genom] 2024 Mar; Vol. 10 (3).Publisher: Microbiology Society Country of Publication: England NLM ID: 101671820 Publication Model: Print Cited Medium: Internet ISSN: 2057-5858

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Editorial & Opinion

Gonadales und gonadosomatisches Neurofibromatose-Typ-1-Mosaik: ein Bericht über zwei Familien: Gonadal and gonadosomatic mosaicism in NF1: report of two families.

  • Authors : Seidl-Philipp M; Universitätsklinik für Dermatologie, Venerologie und Allergologie, Medizinische Universität Innsbruck, Innsbruck, Österreich.; Veyt N

Subjects: Mosaicism* ; Neurofibromatoses*; Humans

  • Source: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG [J Dtsch Dermatol Ges] 2024 Mar; Vol. 22 (3), pp. 426-429.Publisher: Blackwell Country of Publication: Germany NLM ID: 101164708 Publication Model: Print Cited Medium: Internet ISSN: 1610-0387

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Academic Journal

Tissue mosaicism following stem cell aging: blood as an exemplar.

  • Authors : Kapadia CD; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USA.; Center for Cell and Gene Therapy, Baylor College of Medicine, Houston, TX, USA.

Subjects: Mosaicism* ; Cellular Senescence*/Cellular Senescence*/Cellular Senescence*/genetics; Mutation

  • Source: Nature aging [Nat Aging] 2024 Mar; Vol. 4 (3), pp. 295-308. Date of Electronic Publication: 2024 Mar 04.Publisher: Nature Publishing Group US Country of Publication: United States NLM ID: 101773306 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

How Efforts to Understand Somatic Mosaicism Will Impact Dermatology.

  • Authors : Mortlock RD; Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA

Subjects: Mosaicism* ; Dermatology*; Mutation

  • Source: The Journal of investigative dermatology [J Invest Dermatol] 2024 Mar; Vol. 144 (3), pp. 453-455.Publisher: Elsevier Country of Publication: United States NLM ID: 0426720 Publication Model: Print Cited Medium: Internet ISSN: 1523-1747

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Editorial & Opinion

Gonadal and gonadosomatic mosaicism in NF1: report of two families.

  • Authors : Seidl-Philipp M; Department of Dermatology, Medical University Innsbruck, Innsbruck, Austria.; Veyt N

Subjects: Mosaicism* ; Neurofibromatosis 1*; Humans

  • Source: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG [J Dtsch Dermatol Ges] 2024 Mar; Vol. 22 (3), pp. 426-428. Date of Electronic Publisher: Blackwell Country of Publication: Germany NLM ID: 101164708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1610-0387

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Academic Journal

Incidence, prevalence, age at diagnosis, and mortality in individuals with 45,X/46,XY mosaicism: A population-based registry study.

  • Authors : Stochholm K; Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark.; Holmgård C

Subjects: Mosaicism*; Male ; Female

  • Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jan; Vol. 26 (1), pp. 100987. Date of Electronic Publication: 2023 Sep 28.Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS).

  • Authors : Vado Y; Rare Disease Research Group, Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital, 01009 Vitoria-Gasteiz, Spain.; Manero-Azua A

Subjects: Mosaicism* ; Fibrous Dysplasia, Polyostotic*/Fibrous Dysplasia, Polyostotic*/Fibrous Dysplasia, Polyostotic*/diagnosis ; Fibrous Dysplasia, Polyostotic*/Fibrous Dysplasia, Polyostotic*/Fibrous Dysplasia, Polyostotic*/genetics

  • Source: Genes [Genes (Basel)] 2024 Jan 18; Vol. 15 (1). Date of Electronic Publication: 2024 Jan 18.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425

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  • 1-10 of  20,065 results for ""MOSAICISM""