Results 41 to 50 of about 125,088 (254)

Finding the GEMSS in Schools. [PDF]

, 2014
Are you the parent of a child who has a genetic condition such as Down syndrome, Fragile X, or Marfan syndrome? Have you searched for a base of knowledge that is comprehensive and reliable?
Dillon, Ann
core   +1 more source

From the Gut to the Brain: Microplastic‐Associated Neurovascular Dysfunction and Implications for Stroke Risk

Advanced Science, EarlyView.
Chronic oral exposure to microplastics may disrupt gut microbiota homeostasis and intestinal barrier integrity, potentially engaging the gut–brain axis and systemic inflammatory responses. These alterations may be associated with impaired blood–brain barrier function, cerebral microvascular dysfunction, and enhanced endothelial inflammation, pro ...
Hongxing Wang, Yujiao He, Pei Zou, Xiaoyi Wang, Gang Peng, Xiangying Deng   +5 more
wiley   +1 more source

NEUROLOGICAL DISORDER AMONG PREMUTATION CARRIERS OF FRAGILE X SYNDROME AT SEMIN, GUNUNG KIDUL REGENCY [PDF]

, 2010
Background: Neurological disorder among male premutation carriers of Fragile X Syndrome (FXS) frequently occurs. In other hand, lacking of information results misdiagnosis of this disorder.
Ardiansyah, Rivaldi
core  

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Metacarpophalangeal pattern profile analysis in fragile X syndrome [PDF]

, 1988
We analyzed the metacarpophalangeal pattern profile (MCPP) on 18 male individuals from 16 families with fragile X—fra (X), or Martin-Bell—syndrome and calculated a mean syndrome profile.
Butler, M. G, Carpenter, N. J., Fagan, J., Fletcher, M., Gale, D. D., McLeod, D. R., Meaney, F. J., Opitz, J. M., Reynolds, J. F.   +8 more
core   +1 more source

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

Correction to: Isoform-selective phosphoinositide 3-kinase inhibition ameliorates a broad range of fragile X syndrome-associated deficits in a mouse model [PDF]

, 2022
Christina Groß, Anwesha Banerjee, Durgesh Tiwari, Francesco Longo, Angela R. White, Amanda G. Allen, Lindsay M. Schroeder-Carter, Joseph C. Krzeski, Nada A. Elsayed, Rosemary Puckett, Eric Klann, Ralph A. Rivero, Shannon L. Gourley, Gary J. Bassell   +13 more
openalex   +1 more source

Dilemmas in counselling females with the fragile X syndrome [PDF]

, 1999
The dilemmas in counselling a mildly retarded female with the fragile X syndrome and her retarded partner are presented. The fragile X syndrome is an X linked mental retardation disorder that affects males and, often less ...
Boer-van den Berg, H.M. van den, Niermeijer, M.F. (Martinus), Tibben, A. (Arend), Vries, B.B.A. (Bert) de   +3 more
core  

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Plasma Biomarkers for Monitoring Brain Pathophysiology in FMR1 Premutation Carriers. [PDF]

, 2016
Premutation carriers have a 55-200 CGG expansion in the fragile X mental retardation 1 (FMR1) gene. Currently, 1.5 million individuals are affected in the United States, and carriers are at risk of developing the late-onset neurodegenerative disorder ...
Giulivi, Cecilia, Hagerman, Randi, Halmai, Julian, Napoli, Eleonora, Tassone, Flora   +4 more
core   +2 more sources