Zobrazeno 1 - 10
of 185
pro vyhledávání: '"subtelomeric rearrangements"'
Autor:
Ana Rita Soares, Gabriela Soares, Manuela Mota-Freitas, Natália Oliva-Teles, Ana Maria Fortuna
Publikováno v:
Acta Médica Portuguesa, Vol 32, Iss 7-8 (2019)
Introduction: Intellectual disability affects 2% – 3% of the general population, with a chromosomal abnormality being found in 4% – 28% of these patients and a cryptic subtelomeric abnormality in 3% – 16%. In most cases, these subtelomeric rear
Externí odkaz:
https://doaj.org/article/724086fa16534922a3d9add6cb9ca66a
Autor:
Sireteanu Adriana, Popescu Roxana, Braha Elena Emanuela, Bujoran Cornel, Butnariu Lăcrămioara, Caba Lavinia, Graur Elena, Gorduza Eusebiu Vlad, Grămescu Mihaela, Ivanov Iuliu Cristian, Pânzaru Monica, Rusu Cristina
Publikováno v:
Romanian Journal of Laboratory Medicine, Vol 22, Iss 2, Pp 157-164 (2014)
Dizabilitatea intelectuală (DI) este o afecțiune frecventă, cu consecințe majore pentru individ, familie și societate. Datorită heterogenității sale clinice și genetice, în aproximativ 50% din cazuri etiologia bolii nu poate fi stabilită.
Externí odkaz:
https://doaj.org/article/2920e16aae1c457385ebdd117f4a7b14
Akademický článek
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Autor:
Dhanya Yesodharan, Perumal Vekatachalam, Latha Ravichandran, Sheela Nampoothiri, Kalpana Gowrishankar, Santhosh Joseph, Teena Koshy, Jeevan Kumar, Shruthi Mohan, Solomon F. D. Paul, Anupama Chandrasekaran
Publikováno v:
Indian Journal of Medical Research, Vol 144, Iss 2, Pp 206-214 (2016)
Background & objectives: Subtelomeres are prone to deleterious rearrangements owing to their proximity to unique sequences on the one end and telomeric repetitive sequences, which increase their tendency to recombine, on the other end. These subtelom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::807f272a64fbd6a76d94b164dacae29f
http://www.ijmr.org.in/article.asp?issn=0971-5916
http://www.ijmr.org.in/article.asp?issn=0971-5916
Autor:
Rafati Maryam, Ghadirzadeh Mohammad R, Heshmati Yaser, Adibi Homeira, Keihanidoust Zarrintaj, Eshraghian Mohammad R, Dastan Jila, Hoseini Azadeh, Purhoseini Marzieh, Ghaffari Saeed R
Publikováno v:
Molecular Cytogenetics, Vol 5, Iss 1, p 4 (2012)
Abstract Background Cryptic subtelomeric rearrangements have been proposed as a significant cause of sporadic intellectual disability (ID) but the role of such aberrations in familial ID has not yet been studied. As positive family history of ID had
Externí odkaz:
https://doaj.org/article/73c171d4bf6244d390a89abc02eee07e
Autor:
Eusebiu Vlad Gorduza, Lavinia Caba, Iuliu Ivanov, C Bujoran, Elena Graur, Elena Braha, Monica Pânzaru, Cristina Rusu, Mihaela Gramescu, Roxana Popescu, Lăcrămioara Butnariu, Adriana Sireteanu
Publikováno v:
Romanian Journal of Laboratory Medicine, Vol 22, Iss 2, Pp 157-164 (2014)
Dizabilitatea intelectuală (DI) este o afecțiune frecventă, cu consecințe majore pentru individ, familie și societate. Datorită heterogenității sale clinice și genetice, în aproximativ 50% din cazuri etiologia bolii nu poate fi stabilită.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::753c0f21216d3229c8d6bd607f7bc9bd
https://doaj.org/article/2920e16aae1c457385ebdd117f4a7b14
https://doaj.org/article/2920e16aae1c457385ebdd117f4a7b14
Autor:
Shruthi, Mohan, Teena, Koshy, Perumal, Vekatachalam, Sheela, Nampoothiri, Dhanya, Yesodharan, Kalpana, Gowrishankar, Jeevan, Kumar, Latha, Ravichandran, Santhosh, Joseph, Anupama, Chandrasekaran, Solomon F D, Paul
Publikováno v:
The Indian Journal of Medical Research
Background & objectives: Subtelomeres are prone to deleterious rearrangements owing to their proximity to unique sequences on the one end and telomeric repetitive sequences, which increase their tendency to recombine, on the other end. These subtelom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5dc2377a1629792be2549982e9da5b53
https://pubmed.ncbi.nlm.nih.gov/27934799
https://pubmed.ncbi.nlm.nih.gov/27934799
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
The Application of Clinical Genetics
Phelan–McDermid syndrome is caused by the loss of terminal regions of different sizes at 22q13. There is a wide range of severity of symptoms in patients with a 22q13 deletion, but these patients usually show neonatal hypotonia, global developmenta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acc03fc01806965be28b84be82103db2
http://europepmc.org/articles/PMC3681196
http://europepmc.org/articles/PMC3681196
Autor:
J. Suela, P.L. García Murillo, O. García Campos, M.A. Alcaraz Rousselet, A. Verdú Pérez, Y. Vicente Lago, G. Arriola Pereda, F. López Grondona
Publikováno v:
Anales de Pediatría, Vol 75, Iss 6, Pp 365-371 (2011)
Resumen: Introducción: El retraso mental afecta al 3% de la población. En el 50% no es posible determinar la etiología. Las alteraciones cromosómicas submicroscópicas subteloméricas, no detectables con técnicas citogenéticas convencionales, p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14086d86611173a2a146517c8a67effa
http://www.sciencedirect.com/science/article/pii/S1695403311003456
http://www.sciencedirect.com/science/article/pii/S1695403311003456