Results 21 to 30 of about 236,633 (310)

Multi‐tissue cytogenetic analysis for the diagnosis of mosaic Down syndrome: A case report

Clinical Case Reports, 2022
Less than one percent of individuals with Down syndrome exhibit mosaicism, a biological phenomenon that describes an individual who has two or more genetically distinct cell lines.
Wilberg A. Moncada Arita, Eduardo Smelin Perdomo Domínguez, Astrid Yohaly Rivera Caballero, Nelson A. Espinoza‐Moreno, Mauricio E. Zavala Galeano, Barbara R. DuPont, Héctor M. Ramos‐Zaldívar   +6 more
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Complete trisomy 14 mosaicism: first live-born case in Korea [PDF]

Korean Journal of Pediatrics, 2012
Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated ...
Yun Jung Hur, Taegyu Hwang
doaj   +1 more source

Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia [PDF]

, 2013
© 2013 Mac Keith Press.Sex chromosome aneuploidies increase the risk of spoken or written language disorders but individuals with specific language impairment (SLI) or dyslexia do not routinely undergo cytogenetic analysis. We assess the frequency of sex
Newbury, Dianne F, Bolton, Patrick F, Knight, JC, Paracchini, S., Simpson, N., Simkin, Z., Talcott, J., Scerri, TS, O'Hare, A., Newbury, D., Addis, Laura, Knight, Julian, Fairfax, Benjamin P, Pickles, A, Clark, A., Bishop, D. V M, Seckl, J, Talcott, JB, Addis, L., Stein, J., Nasir, J, Knight, J., Nudel, R, Knight, Julian C, Stein, J, Monaco, AP, Slonims, V., Fairfax, Benjamin P., Slonims, Vicky, O'Hare, Anne, O'Hare, A, Simkin, Z, Addis, L, ?, ?, Pickles, A., Brandler, WM, Everitt, A., Hennessy, ER, Stein, John, Everitt, A, Watson, J, Clark, Ann, Fairfax, BP, Cohen, W., Cowie, H., Conti-Ramsden, G., Cohen, W, Paracchini, Silvia, Watson, J., Simpson, Nuala H, Stein, John F., Hennessy, Elizabeth R., Nudel, R., Seckl, J., Bolton, PF, Scerri, Thomas S, Baird, Gillian, Hennessy, E., Simpson, Nuala H., Talcott, Joel B., Talcott, Joel B, Baird, G., SLI Consortium, Brandler, W., Fisher, Simon E, Consortium, Sli, Brandler, William M., Baird, G, Fairfax, B., Knight, Julian C., Fisher, S., Nasir, J., Fisher, SE, Simpson, NH, Conti-Ramsden, G, Conti-Ramsden, Gina, Monaco, A. P., Cowie, H, Hennessy, Elizabeth R, Paracchini, S, Scerri, T., Slonims, V, Clark, A, Bishop, DVM, Watson, Jocelynne, Newbury, Dianne F., Simonoff, E, Brandler, William M, Simonoff, E., Newbury, DF, Fisher, Simon E., Scerri, Thomas S., Bolton, Patrick F.   +92 more
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Cytogenetic Analysis for Suspected Chromosomal Anomalies- A Retrospective Study [PDF]

Journal of Clinical and Diagnostic Research, 2020
Introduction: The chromosomal anomalies are the most significant cause of human genetic disorders. Various types of structural and numerical chromosome aberrations have been identified in clinically suspect of genetic disorders.
Asoke K Pal, Prafulla S Ambulkar, Jwalant E Waghmare, Moreshwar R Shende, Manish Jain, Poonam Verma Shivkumar   +5 more
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Mean Expression of the X-Chromosome is Associated with Neuronal Density. [PDF]

, 2012
peer reviewedBackground: Neurodegenerative diseases are characterized by key features such as loss of neurons, astrocytosis, and microglial activation/proliferation. These changes cause differences in the density of cell types between control and disease
Pascal F. Durrenberger, James Thomas Swingland, Durrenberger, Pascal F, Swingland, James T., Reynolds, Richard, DEPREZ, Manuel, Pombo, A., Deprez, M, Roncaroli, F, Durrenberger, P.F., David T Dexter, Richard eReynolds, Dexter, DT, Turkheimer, Federico E; id_orcid, Turkheimer, Federico E., James T. Swingland, Ana Pombo, Federico Roncaroli, Turkheimer, FE, Swingland, J.T., Durrenberger, PF, David T. Dexter, Pombo, Ana, Dexter, David T, Durrenberger, Pascal F., Reynolds, R, Turkheimer, F.E., Manuel eDeprez, Swingland, James T, Federico E. Turkheimer, Dexter, D.T., Roncaroli, Federico, Federico eRoncaroli, Richard Reynolds, Reynolds, R., Turkheimer, Federico E, Manuel Deprez, Pombo, A, Pascal F Durrenberger, Ana ePombo, Dexter, David T., Deprez, M., Roncaroli, F., Swingland, JT   +43 more
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Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study

Genetics in Medicine Open, 2023
Purpose: Structural mosaicism has been previously implicated in developmental disorders. We aimed to identify rare mosaic chromosomal alterations (MCAs) in probands with severe undiagnosed developmental disorders.
Ruth Y. Eberhardt, Caroline F. Wright, David R. FitzPatrick, Matthew E. Hurles, Helen V. Firth   +4 more
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Association study of suicidal behavior and affective disorders with a genetic polymorphism in ABCG1, a positional candidate on chromosome 21q22.3 [PDF]

, 2000
The gene that codes for the ABC transporter ABCG1 is located in a chromosomal susceptibility region (21q22.3) for affective disorders. Genetic variations in ABCG1 have been associated with affective disorders in Japanese males.
Bondy, Brigitta, Anghelescu, I., Dahmen, N., Szegedi, A., Gietl, A., Schäfer, M., Müller-Siecheneder, F., Möller, Hans-Jürgen, Rujescu, Dan, Giegling, Ina   +9 more
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The Association between Serum Biochemical Markers and Early Amniocentesis in Diagnosing Chromosomal Anomalies: A Cross-Sectional Study in Southern Iran, 2021-2022 [PDF]

Iranian Journal of Medical Sciences
Background: Efforts to improve prenatal diagnosis of Down syndrome have been made, with amniocentesis representing an invasive procedure, and maternal serum biochemical markers are among the non-invasive options.
Maryam Kasraeian, Mehdi Dianatpour, Marzie Zare, Marjan Zare, Azam Faraji, Homeira Vafaei, Nasrin Asadi, Khadije Bazrafshan   +7 more
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Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Nature Communications, 2022
Discovering disease genes on the X chromosome can be particularly challenging. Here, the authors use features of known disease genes and machine learning to predict genes that remain to be associated with disorders on this chromosome.
Elsa Leitão, Christopher Schröder, Ilaria Parenti, Carine Dalle, Agnès Rastetter, Theresa Kühnel, Alma Kuechler, Sabine Kaya, Bénédicte Gérard, Elise Schaefer, Caroline Nava, Nathalie Drouot, Camille Engel, Juliette Piard, Bénédicte Duban-Bedu, Laurent Villard, Alexander P. A. Stegmann, Els K. Vanhoutte, Job A. J. Verdonschot, Frank J. Kaiser, Frédéric Tran Mau-Them, Marcello Scala, Pasquale Striano, Suzanna G. M. Frints, Emanuela Argilli, Elliott H. Sherr, Fikret Elder, Julien Buratti, Boris Keren, Cyril Mignot, Delphine Héron, Jean-Louis Mandel, Jozef Gecz, Vera M. Kalscheuer, Bernhard Horsthemke, Amélie Piton, Christel Depienne   +36 more
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Studies of JAK2 mutations in myeloproliferative disorders [PDF]

, 2008
Myeloproliferative disorders (MPD) are diseases characterized by clonal hematopoiesis with overprodution of mature cells from erythroid, megakaryocytic and myeloid lineages.
Li, Sai
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