Results 101 to 110 of about 7,289,232 (294)

Fragile X-syndrome: literature review and report of two cases [PDF]

, 2014
Fragile X-syndrome is caused by a mutation in chromosome X. It is one of the most frequent causes of learning disability. The most frequent manifestations of fragile X-syndrome are learning disability, different orofacial morphological alterations and an
Gay Escoda, Cosme, Quinteros Borgarello, Milva, Berini Aytés, Leonardo, Ridaura Ruiz, Lourdes   +3 more
core   +3 more sources

CRISPR to the Rescue: Advances in Gene Editing for the FMR1 Gene

Brain Sciences, 2019
Gene-editing using Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) is promising as a potential therapeutic strategy for many genetic disorders.
Carolyn M. Yrigollen, Beverly L. Davidson   +1 more
doaj   +1 more source

Collagenous gastritis in pediatric patients with severe follicular pangastritis and iron deficiency anemia

JPGN Reports, EarlyView.
Abstract Collagenous gastritis is a rare disorder characterized by subepithelial collagen deposition in the gastric mucosa and is frequently associated with iron deficiency anemia. We report two girls aged 8 and 16 years with persistent iron deficiency anemia, abdominal pain, bloating, and constipation.
María Juliana Rusinque Del Busto, Karina Lozano Rivera, Maira Alejandra Forero Rivera, Alejandra Calderón, Santiago Walker, Angie Vergara Espitia, José Fernando Vera Chamorro   +6 more
wiley   +1 more source

A case of fragile X-associated tremor/ataxia syndrome with superior cerebellar peduncle lesions

eNeurologicalSci
Fragile X-associated tremor/ataxia syndrome is a neurodegenerative disorder affecting carriers of a premutation in the FMR1 gene involving expansion of CGG repeats. We present the case of a 66-year-old man with fragile X-associated tremor/ataxia syndrome
Kunihiko Ishizawa, Kentaro Hashimoto, Hironori Oka, Takashi Sugawara, Masakuni Amari, Takeshi Kawarabayashi, Koichi Okamoto, Chisato Tamai, Jun Sone, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +11 more
doaj   +1 more source

Relation between mathemathical abilities and other cognitive domains in X-Fragile syndrome [PDF]

openIl presente elaborato si propone di offrire un quadro generale sullo stato della ricerca attuale riguardo le abilità numeriche nei soggetti affetti da sindrome di X Fragile.
POTENZA, ROBERTA
core  

Seasonal Dynamics of Soil Multitrophic Biodiversity, Co‐Occurrence Network and Assembly Mechanisms Under Typical Vegetation Restoration Patterns in Karst Region

Land Degradation &Development, EarlyView.
ABSTRACT Previous studies often overlooked the dynamic effects of karst vegetation restoration on soil multi‐trophic biodiversity and the underlying community‐assembly mechanisms. To fill this gap, we performed a seasonal comparative analysis of soil biodiversity, co‐occurrence network architecture, and assembly processes across three representative ...
Xiang Zhang, Yingliang Liu, Yao Kai, Lihong Lu, Aoli Zhang, Zhaoxia Zeng, Fuping Zeng, Xunyang He, Hao Zhang   +8 more
wiley   +1 more source

Sensory Processing Phenotypes in Fragile X Syndrome

ASN Neuro, 2018
Fragile X syndrome (FXS) is a neurodevelopmental disorder that causes intellectual disability. It is a leading known genetic cause of autism. In addition to cognitive, social, and communication deficits, humans with FXS demonstrate abnormal sensory ...
Maham Rais, Devin K. Binder, Khaleel A. Razak, Iryna M. Ethell   +3 more
doaj   +1 more source

Fragile X Syndrome in a Colombian Family

Iatreia, 2018
A study was performed on a family from Cali, Colombia in which nine patients were evaluated, three of which presented with intellectual disability with no previous etiological diagnosis.
Saldarriaga Gil, Wilmar, Hagerman, Randi , Salcedo, María Jimena, Tassone, Flora, Ramirez Cheyne, Julián, Silva, Marisol   +5 more
doaj   +1 more source

From Trapped to Resilient Mountains: Diversified Coupling Pathways Linking Land Use Transition and Rural Revitalization for Mountain Sustainable Development

Land Degradation &Development, EarlyView.
ABSTRACT The synergistic interplay among land use transition, rural revitalization, and sustainable development is critical for harmonizing human‐land‐economic systems. Understanding their diverse coupling pathways is key to resolving human‐land conflicts and advancing sustainable rural development in mountainous regions. However, existing research has
Luanyu Zhou, Yangbing Li, Yuluan Zhao, Guangjie Luo, Linyu Yang, Yuxuan Xie, Xiang Wu, Xue Ren, Yiyi Zhang, Juan Huang, Kunyan Rao   +10 more
wiley   +1 more source

Event-related potential alterations in fragile X syndrome

Frontiers in Human Neuroscience, 2012
Fragile X Syndrome (FXS) is the most common form of X-linked intellectual disability, associated with a wide range of cognitive and behavioural impairments.
Inga Sophia eKnoth, Inga Sophia eKnoth, Sarah eLippe, Sarah eLippe   +3 more
doaj   +1 more source