Academic literature on the topic 'Mosaic genetic anomalies'
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Journal articles on the topic "Mosaic genetic anomalies"
Xing, Huan-xia, Peng-bin Li, Li-min Cui, Jian-ye Jiang, Ning-ning Hu, and Xiao-bin Zhang. "Whole Exome Sequencing Facilitated the Identification of a Mosaic Small Supernumerary Marker Chromosome (sSMC)." BioMed Research International 2021 (July 2, 2021): 1–8. http://dx.doi.org/10.1155/2021/6258527.
Full textVinkšel, M., M. Volk, B. Peterlin, and L. Lovrecic. "A systematic clinical review of prenatally diagnosed tetrasomy 9p." Balkan Journal of Medical Genetics 22, no. 1 (August 28, 2019): 11–20. http://dx.doi.org/10.2478/bjmg-2019-0012.
Full textMilicevic, Srboljub, Jasmina Tadic, Stasa Krasic, and Stevan Repac. "Autopsy findings in a fetus with monosomy 20 mosaicism." Srpski arhiv za celokupno lekarstvo, no. 00 (2024): 17. http://dx.doi.org/10.2298/sarh231112017m.
Full textVorsanova, S. G., I. V. Solovyev, O. S. Kurinnaya, V. S. Kravets, A. D. Kolotii, I. A. Demidova, V. O. Sharonin, Yu B. Yurov, and I. Yu Yurov. "The Y chromosome disomy syndrome (47, XYY) in children with mental retardation, deviations of sex development and different genome anomalies: molecular cytogenetic studies." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 65, no. 2 (May 15, 2020): 40–48. http://dx.doi.org/10.21508/1027-4065-2020-65-2-40-48.
Full textThu-Ta, Flora, Dalvir Singh Bajwa, Suzanne Leech, Anna Dubois, and Brian Wilson. "PA33 Mosaic KRAS mutation associated with epidermal naevus and somatic limb overgrowth." British Journal of Dermatology 191, Supplement_1 (June 28, 2024): i137. http://dx.doi.org/10.1093/bjd/ljae090.288.
Full textLeroij, Olivier, Lennart Van der Veeken, Bettina Blaumeiser, and Katrien Janssens. "Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q Duplication." Reproductive Medicine 2, no. 3 (July 9, 2021): 118–24. http://dx.doi.org/10.3390/reprodmed2030012.
Full textTidrenczel, Zsolt, Erika P. Tardy, Edina Sarkadi, Judit Simon, Artúr Beke, and János Demeter. "Praenatalisan diagnosztizált Pallister–Killian-szindróma esete." Orvosi Hetilap 159, no. 21 (May 2018): 847–52. http://dx.doi.org/10.1556/650.2018.31015.
Full textStephens, Carol M., Andreea M. Pavel, Sean R. Mathieson, Niamh McSweeney, Brian McNamara, Michael Moore, and Geraldine B. Boylan. "Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS)." HRB Open Research 5 (February 18, 2022): 14. http://dx.doi.org/10.12688/hrbopenres.13493.1.
Full textSchneeweiss, Michelle Robyn, Breanne Dale, and Resham Ejaz. "Diagnosis and clinical presentation of two individuals with a rareTCF20pathogenic variant." BMJ Case Reports 15, no. 12 (December 2022): e248995. http://dx.doi.org/10.1136/bcr-2022-248995.
Full textEid, Maha M., Ola M. Eid, Sawsan Abdel-Hadi, Nehal Hassib, Abdelrahman Madian, Hanan H. Afifi, and Ghada M. H. Abdel-Salam. "Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients." Journal of Pediatric Genetics 09, no. 03 (November 21, 2019): 207–10. http://dx.doi.org/10.1055/s-0039-3400489.
Full textDissertations / Theses on the topic "Mosaic genetic anomalies"
Engel, Camille. "Description phénotypique de formes rares de trouble du développement intellectuel et caractérisation des mécanismes moléculaires impliqués." Electronic Thesis or Diss., Bourgogne Franche-Comté, 2024. http://www.theses.fr/2024UBFCE006.
Full textThe advent of new sequencing techniques has dramatically increased the diagnostic rate of intellectual disability (ID), and more than 2,000 genes are currently known to be involved. Despite these considerable progresses, interpreting the variants identified by sequencing methods remains challenging, and the natural history of newly described ID is often poorly understood. To better understand these disorders and their underlying mechanisms, we have studied four rare forms of ID with various inheritance patterns from both clinical and genetic perspectives. On one hand, we defined the clinical pictures associated with variations in BRAT1, CNOT3 and MTOR, and we investigated the existence of any phenotype-genotype correlations. On the other hand, we contributed to the design of a functional test to reclassify PQBP1 variants of uncertain significance
Book chapters on the topic "Mosaic genetic anomalies"
Clark, Robin D., and Cynthia J. Curry. "Diaphragmatic Hernia." In Genetic Consultations in the Newborn, edited by Robin D. Clark and Cynthia J. Curry, 147–52. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780199990993.003.0021.
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