Zobrazeno 1 - 10
of 149
pro vyhledávání: '"22q13.3 deletion syndrome"'
Autor:
Ying Hao, Yang Liu, Jingxin Yang, Xingping Li, Fuwei Luo, Qian Geng, Suli Li, Peining Li, Weiqing Wu, Jiansheng Xie
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Phelan–McDermid syndrome (PMS), caused by deletions at 22q13.3 and pathogenic variants in the SHANK3 gene, is a rare developmental disorder characterized by hypotonia, developmental delay (DD), intellectual disability (ID), autism spect
Externí odkaz:
https://doaj.org/article/a87fc3e457044a9f96bceb96ffa5d1ec
Autor:
Claudia Ismania Samogy-Costa, Elisa Varella-Branco, Frederico Monfardini, Helen Ferraz, Rodrigo Ambrósio Fock, Ricardo Henrique Almeida Barbosa, André Luiz Santos Pessoa, Ana Beatriz Alvarez Perez, Naila Lourenço, Maria Vibranovski, Ana Krepischi, Carla Rosenberg, Maria Rita Passos-Bueno
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-10 (2019)
Abstract Background Phelan-McDermid syndrome (PMS) is a rare genetic disorder characterized by global developmental delay, intellectual disability (ID), autism spectrum disorder (ASD), and mild dysmorphisms associated with several comorbidities cause
Externí odkaz:
https://doaj.org/article/6463af4c6f2d464db58d55a786a44c1c
Akademický článek
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Autor:
Solovyeva N.V., Kizul N.S.
Publikováno v:
Аутизм и нарушение развития, Vol 14, Iss 2, Pp 13-19 (2016)
Different syndromes hide under the mask of autism. Each is caused by a certain genetic fault disturbing the development of the brain and leading to symptoms of autism showing. A correctly done genetic diagnosis helps to avoid mistakes when choosing
Externí odkaz:
https://doaj.org/article/5d2fa73c2b884129aea63a9cf1334a57
Publikováno v:
Cukurova Medical Journal, Vol 40, Iss 1, Pp 169-173 (2015)
Phelan-McDermid sendromu olarak da bilinen 22q13.3 delesyon sendromu, global gelişme geriliği, gecikmiş ve gelişmemiş konuşma, jenaralize hipotoni ve minör fiziksel anomaliler ile karekterizedir. Delesyon tipik olarak 22q13.3'ün terminal band
Externí odkaz:
https://doaj.org/article/c61c89017be0466a93ad8826a185cc20
Publikováno v:
Çukurova Üniversitesi Tıp Fakültesi Dergisi, Vol 40, Iss 1, Pp 169-173 (2015)
Phelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, is characterized by global developmental delay, absent or delayed speech, generalized hypotonia, and minor physical anomalies. The deletion typically involves the terminal band 22q13.
Externí odkaz:
https://doaj.org/article/5f993c9a596c4a26b452f433d2f1a53b
Publikováno v:
Korean Journal of Pediatrics, Vol 57, Iss 7, Pp 333-336 (2014)
Reports of constitutional ring chromosome 22, r(22) are rare. Individuals with r(22) present similar features as those with the 22q13 deletion syndrome. The instability in the ring chromosome contributes to the development of variable phenotypes. Cen
Externí odkaz:
https://doaj.org/article/8e7dd022109e4f87b649368b7d1566da
Autor:
Monica Burdeus-Olavarrieta, Julián Nevado, Sabrina van Weering-Scholten, Susanne Parker, Ann Swillen
Publikováno v:
European journal of medical genetics, 66(5):104745. ELSEVIER SCIENCE BV
Phelan-McDermid syndrome is a genetic condition primarily caused by a deletion on the 22q13.3 region or a likely pathogenic/pathogenic variant of SHANK3. The main features comprise global developmental delay, marked impairment or absence of speech, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33e807a8a896134b99a24c89224ed817
https://doi.org/10.1016/j.ejmg.2023.104745
https://doi.org/10.1016/j.ejmg.2023.104745
Autor:
Julián, Nevado, Sixto, García-Miñaúr, María, Palomares-Bralo, Elena, Vallespín, Encarna, Guillén-Navarro, Jordi, Rosell, Cristina, Bel-Fenellós, María Ángeles, Mori, Montserrat, Milá, Miguel, Del Campo, Pilar, Barrúz, Fernando, Santos-Simarro, Gabriela, Obregón, Carmen, Orellana, Harry, Pachajoa, Jair Antonio, Tenorio, Enrique, Galán, Juan C, Cigudosa, Angélica, Moresco, César, Saleme, Silvia, Castillo, Elisabeth, Gabau, Luis, Pérez-Jurado, Ana, Barcia, Maria Soledad, Martín, Elena, Mansilla, Isabel, Vallcorba, Pedro, García-Murillo, Franco, Cammarata-Scalisi, Natálya, Gonçalves Pereira, Raquel, Blanco-Lago, Mercedes, Serrano, Juan Dario, Ortigoza-Escobar, Blanca, Gener, Verónica Adriana, Seidel, Pilar, Tirado, Pablo, Lapunzina, Rodríguez-Revenga, Laia
Publikováno v:
Scientia
Frontiers in Genetics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Frontiers in Genetics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Phelan-McDermid syndrome; Intellectual disabilities; Subtelomeric deletion syndrome Síndrome de Phelan-McDermid; Discapacidades intelectuales; Síndrome de deleción subtelomérica Síndrome de Phelan-McDermid; Discapacitats intel·lectuals; Síndro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0060498848b2f7b4c4e187fa0c8a878d
https://hdl.handle.net/11351/8829
https://hdl.handle.net/11351/8829
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.