Results 161 to 170 of about 225,713 (333)

Developmental divergence: motor trajectories in children with fragile X syndrome with and without co-occurring autism. [PDF]

, 2019
BackgroundAutism spectrum disorder (ASD) is highly prevalent in fragile X syndrome (FXS), affecting 50-70% of males. Motor impairments are a shared feature across autism and FXS that may help to better characterize autism in FXS.
Bishop, Somer L, Roberts, Jane E, Will, Elizabeth A   +2 more
core   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, EarlyView.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

Ethical and Regulatory Considerations in the Clinical Translation of Pluripotent Stem Cell‐Derived NK Cell Therapies

Cell Proliferation, EarlyView.
Advancements in the generation of human pluripotent stem cell‐derived natural killer (PSC‐NK) cells have attracted considerable attention within the biomedical research community, offering a promising off‐the‐shelf technique for universal immune therapy.
Qianwen Chen, Jianwei Lv, Xinwei Xie, Hanlin Zhu, Zhenyu Xiao, Yaojin Peng   +5 more
wiley   +1 more source

Transforming life. Fragile X syndrome between molecular diagnosis and biosociality [PDF]

, 2006
This paper addresses issues of molecular diagnosis as a pivotal life reconfiguration factor, defined both as life forms ("naked life") and as forms of life (Wittgenstein).
Pidoux, Vincent
core  

Evidence‐ and consensus‐based guideline on lichen sclerosus

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary The German‐language, consensus‐ and evidence‐based S3 guideline on lichen sclerosus (LS) was developed based on the European “EuroGuiDerm Guideline on lichen sclerosus” under the leadership of the German Dermatological Society (DDG) and the German Society for Gynecology and Obstetrics (DGGG).
Gudula Kirtschig, Linn Woelber, Andreas Günthert, Karl Becker, Alexandra Ciresa‐König, Bettina Fischer, Susanne Fricke‐Otto, Claudia Günther, Christine Hirchenhain, Narayani Helga Köllmann, Alexander Kreuter, Bartosz Malisiewicz, Felix Neis, Dan mon O'Dey, Hagen Ott, Martin Promm, Regina Renner, Anne‐Rose Schardt, Ines Schweizer, Raimund Stein, Jan Ter‐Nedden, Gerda Trutnovsky, Agnes Wand, Gerhard Weyandt, Ricardo N. Werner, Maria Kinberger   +25 more
wiley   +1 more source

Fragile X Syndrome: detection and intervention in the behavioural phenotype [PDF]

, 2014
Síndrome X Frágil (SXF) constituye la primera causa de discapacidad intelectual de tipo hereditario. Es una de las alteraciones del neurodesarrollo producido por una mutación en el gen FMR1 que provoca la sintetización inadecuada de la proteína FMRP1. La
García-Alonso, María Isabel, Medina-Gómez, Begoña   +1 more
core   +1 more source

A bio‐ecological model for early screening of developmental coordination disorder

Developmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70069 Abstract Aim To develop and externally validate a bio‐ecological model for early screening of developmental coordination disorder (DCD) using maternal and environmental risk factors from electronic health records, aimed at improving early detection in children under 5 years.
Xiaotian Dai, Tai Ren, Gareth Williams, Gary Jones, Fei Li, Wenchong Du, Jing Hua   +6 more
wiley   +1 more source

Cytogenetic and Molecular Investigation in Children with Possible Fragile X Syndrome

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2012
Objective: Fragile X syndrome (FXS) is the most common cause of inherited mental retardation and is due to a mutation in the X-linked FMR1 gene. Molecular genetic testing and chromosome analysis are indicated for this disorder.
Onur Ozer, Osman Demirhan, Erdal Tunc, Huseyin Bagci, Dilara Karahan, Nilgun Tanriverdi, Bertan Yilmaz, Ali Irfan Guzel, Ibrahim Keser   +8 more
doaj  

Treatment of Fragile X Syndrome with Cannabidiol: A Case Series Study and Brief Review of the Literature. [PDF]

, 2019
Fragile X syndrome (FXS) is an X-linked dominant disorder caused by a mutation in the fragile X mental retardation 1 gene. Cannabidiol (CBD) is an exogenous phytocannabinoid with therapeutic potential for individuals with anxiety, poor sleep, and ...
Bonn-Miller, Marcel, Hagerman, Randi, Tartaglia, Nicole   +2 more
core  

Conducting Research With an Adolescent Diagnosed With Fragile X Syndrome

Forum: Qualitative Social Research, 2017
In this article I address the reflexive nature of research undertaken when I investigated the presence of resilience found in an adolescent girl diagnosed with fragile X syndrome.
Chantel Lynette Weber
doaj