Results 81 to 90 of about 18,012 (216)

Fmr1/Fmrp expression in WT and Fmr1 KO retinas.

, 2014
(A) Fmr1 mRNA expression was quantified by qPCR (n = 8 per group). Data are expressed as 2−ΔCt values and normalized to 18S RNA internal control. Significant expression of Fmr1 was only found in WT retina.
Arnaud Menuet (271273), Ameziane Herzine (621199), Pauline Bertrand (621202), Rafaëlle Rossignol (621196), Christine Cercy (621203), Sylvain Briault (531861), Arnaud Pâris (621198), Jacques Pichon (621204), Isabelle Ranchon-Cole (621197), Stéphane Mortaud (621205), David Laurenceau (621201), Olivier Perche (531858), Astrid Perche (621200)   +12 more
core   +1 more source

Autonomic Function in Fragile X Syndrome: A Systematic Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Fragile X syndrome (FXS) is a monogenic X‐linked cause of intellectual disability and autism. Individuals with FXS often have high levels of anxiety and sometimes display challenging behaviours. Autonomic dysfunction has been suggested to be one physiological mechanism that may contribute to these.
Sydni Weissgold, Sarah E. A. Eley, Damien Wright, Andrew G. McKechanie, Andrew C. Stanfield   +4 more
wiley   +1 more source

Novel Polymorphism in the FMR1 Gene Resulting in a “Pseudodeletion” of FMR1 in a Commonly Used Fragile X Assay [PDF]

The Journal of Molecular Diagnostics, 2000
The fragile X syndrome is the most commonly inherited cause of mental retardation. Genetic diagnosis of this disease relies on the detection of triplet repeat expansion in the FMR1 gene on the X chromosome. Although the majority of disease in fragile X patients is due to mutations involving triplet repeat expansion, deletion of various portions of FMR1
T M, Daly, A, Rafii, R A, Martin, B A, Zehnbauer   +3 more
openaire   +2 more sources

Social cognition in children and adolescents with fragile X syndrome: A comparison with individuals with autism symptoms and typical development

Journal of Neuropsychology, EarlyView.
Abstract Most individuals with fragile X syndrome (FXS) exhibit symptoms of autism spectrum disorder (ASD), suggesting a substantial overlap in social cognitive profiles. This cross‐sectional study aimed to explore social cognitive abilities in children and adolescents with FXS in comparison with an age‐matched heterogeneous ASD group and typically ...
Kamil R. Hiralal, Nienke Bouw, Britt R. Kok, Kyra Lubbers, Bram Dierckx, Kirstin Greaves‐Lord, Manon H. J. Hillegers, Gwendolyn C. Dieleman, Sabine E. Mous   +8 more
wiley   +1 more source

FMR1 Iso-Seq: per sample intermediate files

, 2017
<p><em>FMR1</em> premutation carriers (55-200 CGG repeats) are at risk for developing Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), an adult onset neurodegenerative disorder.
Tang, Hiu-Tung, Tseng, Elizabeth (5240491), Hickey, Luke (5524535), Tassone, Flora (5524544), AlOlaby, Reem Rafik, Tang, Hiu-Tung (5524541), AlOlaby, Reem Rafik (5524538), Tseng, Elizabeth, Tassone, Flora, Hickey, Luke   +9 more
core   +1 more source

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

Clinical Genetics, Volume 110, Issue 1, Page 46-63, July 2026.
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

Sensory Difficulties in Children With an FMR1 Premutation

Frontiers in Genetics, 2018
Abnormal sensory processing is one of the core characteristics of the fragile X phenotype. Studies of young children with fragile X syndrome (FXS) and the FMR1 premutation have shown sensory challenges as early as infancy and into early childhood. This study sought to examine differences in sensory difficulties in children with an FMR1 premutation ...
Melissa Raspa, Amanda Wylie, Anne C. Wheeler, Jacek Kolacz, Anne Edwards, Keri Heilman, Stephen W. Porges, Stephen W. Porges   +7 more
openaire   +3 more sources

A phenotypic and molecular characterization of the fmr1-tm1Cgr Fragile X mouse

, 2004
Fragile X Syndrome is the most common form of\ud inherited mental retardation. It is also known for having\ud a substantial behavioral morbidity, including autistic features. In humans, Fragile X Syndrome is almost always\ud caused by inactivation of the
Bauchwitz, Dr. Robert P.
core  

Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1337-1346, June 2026.
ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler, Bryce A. Schuler, Elizabeth A. Jasper, Janet Talbert, Laura Duncan, Mackenzie Mosera   +5 more
wiley   +1 more source

Unstable Mutations in the FMR1 Gene and the Phenotypes [PDF]

, 2012
Fragile X syndrome (FXS), a severe neurodevelopmental anomaly, and one of the earliest disorders linked to an unstable ('dynamic') mutation, is caused by the large (>200) CGG repeat expansions in the noncoding portion of the FMR1 (Fragile X Mental Retardation-1) gene.
Danuta, Loesch, Randi, Hagerman
openaire   +2 more sources