Výsledky vyhledávání - "Chromosomal Syndromes"

Epidemiología de los Síndromes Cromosómicos en el Estado de Piauí: Informe de las primeras 100 pruebas de cariotipo realizadas en el Estado

Autor: Pereira, Ester Miranda, Silva, Adalberto Socorro da, Brandão, Rafael Melo Santos de Serpa, Martins, Liline Maria Soares, Costa, Maria Amélia de Oliveira, Pereira, Lorena Miranda, Batista, Nelson Jorge Carvalho, Monte, Semiramis Jamil Hadad do

Publikováno v: Research, Society and Development; Vol. 11 No. 9; e0411931413
Research, Society and Development; Vol. 11 Núm. 9; e0411931413
Research, Society and Development; v. 11 n. 9; e0411931413
Research, Society and Development
Universidade Federal de Itajubá (UNIFEI)
instacron:UNIFEI

Aims: Determine the epidemiological profile of the chromosomal syndromes of the first 100 patients who underwent the karyotype test at the Laboratory of Immunogenetics and Molecular Biology at the Federal University of Piauí (LIB-UFPI). Methods: Thi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3056::8e8fb5c632022dedf817707a0f87fa8f
https://rsdjournal.org/index.php/rsd/article/view/31413

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Akademický článek

Genetic Classification of Infantile Spasms

Autor: J Gordon Millichap

Publikováno v: Pediatric Neurology Briefs, Vol 26, Iss 1, Pp 3-4 (2012)

Researchers from University of Washington, Seattle, WA, and Washington University, St Louis, MO propose a genetic and biologic classification of infantile spasms. Infantile spasms are of 2 main groups: those with known or unknown predisposing genotyp

Externí odkaz: https://doaj.org/article/55f25f61d6b148d6b5ca7381e0338448

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Случай синдрома Эмануэль у новорожденной девочки с врожденным пороком сердца

Представлен случай синдрома Эмануэль у новорожденной девочки с врожденным пороком сердца и высокой кишечной непроходимостью. Кариотип

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4422de07d267de339a7557c71329ba91

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Akademický článek

Etiology of Agenesis of Corpus Callosum

Autor: J Gordon Millichap

Publikováno v: Pediatric Neurology Briefs, Vol 14, Iss 7, Pp 55-55 (2000)

Agenesis of the corpus callosum was found in 7 of 135 children (aged 3 months to 15 years) with structural cerebral defects on MRI.

Externí odkaz: https://doaj.org/article/7378c07dcb7e47d9a0032e6127f83228

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Oral characteristics of trisomy 8 and monosomy 18: a case report

Autor: Silvana Sale, Lugliè Pf, Guglielmo Campus, Giovanni Spano

Publikováno v: The Open Dentistry Journal

Several reports described various mosaic chromosomal syndromes characterized by alterations originated by either an excess or deficit in the number of chromosomes. A case of mosaic trisomy 8 and monosomy 18 with significant involvement of the oral ca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::509eb10663785ae9f001a9b0a010c268
https://pubmed.ncbi.nlm.nih.gov/21892366

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Multiplex-FISH for pre- and postnatal diagnostic applications

Autor: Michael R. Speicher, Jutta Müller-Navia, Christine Fauth, Sabine Uhrig, Jan Murken, Wirtz A, Can Apacik, Cornelia Daumer-Haas, Simone Schuffenhauer, Thomas Cremer, Monika Cohen

Summary For >3 decades, Giemsa banding of metaphase chromosomes has been the standard karyotypic analysis for pre- and postnatal diagnostic applications. However, marker chromosomes or structural abnormalities are often encountered that cannot be dec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2bc0e043e74d8a7ecff53527352f7c8
https://europepmc.org/articles/PMC1377944/

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Review

Handbook of Chromosomal Syndromes (Book).

Autor: Riley, Ruth¹, Connor, Elizabeth elizabeth.connor@citadel.edu

Publikováno v: Medical Reference Services Quarterly. Spring2004, Vol. 23 Issue 1, p96-97. 2p.

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