Results 91 to 100 of about 225,713 (333)

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

Intracellular FMRpolyG-Hsp70 complex in fibroblast cells from a patient affected by fragile X tremor ataxia syndrome

Heliyon, 2019
Background: Fragile X-associated tremor/ataxia syndrome is a late-onset neurodegenerative disorder that affects about 40% of carriers of CGG-repeat expansions in the premutation range within the fragile X gene (FMR1).
Giuseppe Bonapace, Rosa Gullace, Daniela Concolino, Grazia Iannello, Radha Procopio, Monica Gagliardi, Gennarina Arabia, Gaetano Barbagallo, Angela Lupo, Lucia Ilaria Manfredini, Grazia Annesi, Aldo Quattrone   +11 more
doaj   +1 more source

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

Clinical checklists in the selection of mentally retarded males for molecular screening of fragile X syndrome [PDF]

, 2007
Fragile X syndrome is the most frequent cause of inherited mental retardation. The phenotype in this syndrome is quite variable and less conspicuous in younger patients, making clinical diagnosis difficult and thus making molecular diagnosis necessary ...
Belangero, Sintia Iole, Bellucco, Fernanda Teixeira da Silva, Brunoni, Decio, Christofolini, Denise Maria, Costa, Silvia S., Kulikowski, Leslie Domenici, Lipay, Monica Vanucci Nunes, Melaragno, Maria Isabel, Ramos, Marco Antonio P.   +8 more
core   +3 more sources

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

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

Decreased BOLD Signal Variability in Middle‐Aged and Older Adults on the Autism Spectrum

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a lifelong neurodevelopmental disorder. Preliminary evidence suggests an increased risk for early‐onset cognitive and neurological decline in ASD. While brain development in children, adolescents, and young adults with ASD diverges from neurotypical (NT) peers, it remains unclear in older adults with ASD ...
Stephanie Pedrahita, Annika Linke, Michaela Cordova, Molly Wilkinson, Janice Hau, Gioia Toro, Kalekirstos Alemu, Jiwandeep Kohli, Ralph‐Axel Müller, Ruth Carper   +9 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  

Lessons from LIMK1 enzymology and their impact on inhibitor design [PDF]

, 2019
LIM domain kinase 1 (LIMK1) is a key regulator of actin dynamics. It is thereby a potential therapeutic target for the prevention of fragile X syndrome and amyotrophic lateral sclerosis.
Beltrami, A, Bullock, Alexander, Canning, P, Chaikuad, A, Chatterjee, D, Knapp, S, Knaus, P, Mathea, S, Preuss, F, Salah, E, Tumber, A   +10 more
core   +2 more sources

Motor Performance in Autistic Youth From Childhood Through Adolescence: Evidence for Both Sustained and Widening Group Differences

Autism Research, EarlyView.
ABSTRACT Although motor‐skill differences in autistic individuals are well established, there is diverging evidence regarding what happens to motor skills in autistic children as they become adolescents. Using both cross‐sectional and longitudinal data, we examined fine and gross motor skills and grip strength of 187 autistic participants and 136 non ...
Allison R. Block, Emily C. Skaletski, Claire M. Sheedy, Ella A. Vanderpool, Brittany G. Travers   +4 more
wiley   +1 more source