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Academic Journal

Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.

  • Authors : Cogliati F; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Straniero L

Subjects: Mosaicism* ; Siblings* ; Smith-Magenis Syndrome*/Smith-Magenis Syndrome*/Smith-Magenis Syndrome*/genetics

  • Source: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235742 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

SMAD4 mosaicism in juvenile polyposis: Essential contribution of somatic analysis in diagnosis.

  • Authors : Vautier S; Department of Genetics, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.; Mauillon J

Subjects: Intestinal Polyposis*/Intestinal Polyposis*/Intestinal Polyposis*/congenital ; Intestinal Polyposis*/Intestinal Polyposis*/Intestinal Polyposis*/diagnosis ; Intestinal Polyposis*/Intestinal Polyposis*/Intestinal Polyposis*/genetics Juvenile polyposis syndrome

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep; Vol. 194 (9), pp. e63648. Date of Electronic Publication: 2024 May 02.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

Interpretation of ambiguous TP53 test results: Mosaicism, clonal hematopoiesis, and variants of uncertain significance.

  • Authors : Berry DK; Department of Individualized Cancer Management, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA.; Gillis N

Subjects: Clonal Hematopoiesis*/Clonal Hematopoiesis*/Clonal Hematopoiesis*/genetics ; Li-Fraumeni Syndrome*/Li-Fraumeni Syndrome*/Li-Fraumeni Syndrome*/genetics ; Li-Fraumeni Syndrome*/Li-Fraumeni Syndrome*/Li-Fraumeni Syndrome*/diagnosis

  • Source: Journal of genetic counseling [J Genet Couns] 2024 Aug; Vol. 33 (4), pp. 916-926. Date of Electronic Publication: 2023 Sep 16.Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599

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Academic Journal

RET 634 germline/gonadal mosaicism generating a second pathogenic amino acid change in multiple endocrine neoplasia type 2A.

  • Authors : Valente FOF; Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil.; Camacho CP

Subjects: Multiple Endocrine Neoplasia Type 2a*/Multiple Endocrine Neoplasia Type 2a*/Multiple Endocrine Neoplasia Type 2a*/genetics ; Multiple Endocrine Neoplasia Type 2a*/Multiple Endocrine Neoplasia Type 2a*/Multiple Endocrine Neoplasia Type 2a*/pathology ; Proto-Oncogene Proteins c-ret*/Proto-Oncogene Proteins c-ret*/Proto-Oncogene Proteins c-ret*/genetics

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63576. Date of Electronic Publication: 2024 Feb 26.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

From genetic mosaicism to tumorigenesis through indirect genetic effects.

  • Authors : Capp JP; Toulouse Biotechnology Institute, INSA/University of Toulouse, CNRS, INRAE, Toulouse, France.; Catania F

Subjects: Mosaicism* ; Neoplasms*/Neoplasms*/Neoplasms*/genetics ; Neoplasms*/Neoplasms*/Neoplasms*/pathology

  • Source: BioEssays : news and reviews in molecular, cellular and developmental biology [Bioessays] 2024 Jul; Vol. 46 (7), pp. e2300238. Date of Electronic Publication: 2024 May 12.Publisher: Wiley Country of Publication: United States NLM ID: 8510851 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1521-1878

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Report

Inheritance of STING mosaicism in two half-siblings.

Subjects: Mosaicism* ; Membrane Proteins*/Membrane Proteins*/Membrane Proteins*/genetics; Humans

  • Source: Journal of clinical immunology [J Clin Immunol] 2024 Jul 30; Vol. 44 (7), pp. 168. Date of Electronic Publication: 2024 Jul 30.Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-2592

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Academic Journal

Threshold of somatic mosaicism leading to brain dysfunction with focal epilepsy.

  • Authors : Kim J; Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology (KAIST), Daejeon 34141, Republic of Korea.; Park SM

Subjects: Mosaicism* ; Epilepsies, Partial*/Epilepsies, Partial*/Epilepsies, Partial*/genetics ; Epilepsies, Partial*/Epilepsies, Partial*/Epilepsies, Partial*/physiopathology Focal cortical dysplasia of Taylor

  • Source: Brain : a journal of neurology [Brain] 2024 Sep 03; Vol. 147 (9), pp. 2983-2990.Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Confined placental mosaicism: Distribution of chromosomally abnormal cells over the term placenta.

  • Authors : Eggenhuizen GM; Department of Obstetrics and Gynecology, Erasmus MC, University Medical Center, 3015 CN, Rotterdam, the Netherlands. Electronic address: .; van Veen S

Subjects: Mosaicism* ; Placenta*/Placenta*/Placenta*/pathology ; Chromosome Aberrations*

  • Source: Placenta [Placenta] 2024 Sep 02; Vol. 154, pp. 60-65. Date of Electronic Publication: 2024 Jun 15.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8006349 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Effect of freeze-thawing, cell collection, and laser irradiation cycles on mosaicism occurrence in preimplantation genetic testing for aneuploidy.

  • Authors : Takeuchi K; Takeuchi Ladies Clinic/Center for Reproductive Medicine, 502-2 Higashimochida, Aira-shi, Kagoshima 899-5421, Japan.; Kuwatsuru Y

Subjects: Mosaicism*/Mosaicism*/Mosaicism*/embryology ; Aneuploidy* ; Preimplantation Diagnosis*/Preimplantation Diagnosis*/Preimplantation Diagnosis*/methods

  • Source: European journal of obstetrics, gynecology, and reproductive biology [Eur J Obstet Gynecol Reprod Biol] 2024 Sep; Vol. 300, pp. 12-16. Date of Electronic Publication: 2024 Jul 04.Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 0375672 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

[Clinicopathological and molecular genetic features of confined placental mosaicism].

  • Authors : Wang AC; Department of Pathology, Haidian Maternal and Children Health Hospital, Beijing 100195, China.; Xie JL

Subjects: Mosaicism* ; Placenta*/Placenta*/Placenta*/pathology ; Fetal Growth Retardation*/Fetal Growth Retardation*/Fetal Growth Retardation*/genetics

  • Source: Zhonghua bing li xue za zhi = Chinese journal of pathology [Zhonghua Bing Li Xue Za Zhi] 2024 Jul 08; Vol. 53 (7), pp. 697-701.Publisher: Zhonghua Yixuehui Country of Publication: China NLM ID: 0005331 Publication Model: Print Cited Medium: Print ISSN: 0529-5807 (Print)

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  • 1-10 of  117,947 results for ""Mosaicism""