Zobrazeno 1 - 10
of 185
pro vyhledávání: '"22q13.3 deletion"'
Autor:
Rui Yin, Maxime Wack, Claire Hassen-Khodja, Michael T. McDuffie, Geraldine Bliss, Elizabeth J. Horn, Cartik Kothari, Brittany McLarney, Rebecca Davis, Kristen Hanson, Megan O’Boyle, Catalina Betancur, Paul Avillach
Publikováno v:
Molecular Autism, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract Background Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by 22q13 deletions that include the SHANK3 gene or pathogenic sequence variants in SHANK3. It is characterized by global developmental delay, intellectual
Externí odkaz:
https://doaj.org/article/6a99ab8229bd44dfa398029474c7791b
Autor:
Dirk Dhossche, Clément de Billy, Claudine Laurent-Levinson, Marie T. Le Normand, Christophe Recasens, Laurence Robel, Anne Philippe
Publikováno v:
Frontiers in Psychiatry, Vol 14 (2023)
BackgroundIndividuals with Phelan-McDermid syndrome (PMS) present with a wide range of diagnoses: autism spectrum disorder, intellectual disability, or schizophrenia. Differences in the genetic background could explain these different neurodevelopmen
Externí odkaz:
https://doaj.org/article/949c51a764e34a99ad51602342394f01
Akademický článek
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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
Publikováno v:
Balkan Journal of Medical Genetics, Vol 19, Iss 2, Pp 85-90 (2016)
Phelan McDermid Syndrome (PHMDS) (OMIM #606232), is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. The 22q13.3 deletions and mutations that lead to a loss of a functional copy of SHANK3 (OMIM *606230) caus
Externí odkaz:
https://doaj.org/article/7f4fbf80b45f47bcad0ce5673e2bce95
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
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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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