Results 31 to 40 of about 5,127 (199)

premutation alleles [PDF]

, 2014
Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation (FMR1) gene have been linked to various types of clinical involvement ranging from mood and anxiety disorders to immunological disorders and executive function deficits. Carrier
R. Lozano, Lozano, R, Schneider, A, F. Tassone, A. Schneider, R.J. Hagerman, Hagerman, RJ, Hessl, D, Basuta, K, C.M. Yrigollen, Yrigollen, CM, D. Hessl, Tassone, F, K. Basuta   +13 more
core   +1 more source

Postpartum Depression in Women with the FMR1 Premutation [PDF]

Current Psychiatry Reviews, 2013
Psychiatric disorders in women with the FMR1 premutation are common and include attention deficit hyperactivity disorder, anxiety, depression, and eating disorders. This pilot study explored the risk factors for postpartum depression (PPD) in women with the premutation.We conducted a chart review of 50 women premutation carriers with major depressive ...
Roberta W, Obadia, Ana-Maria, Iosif, Andreea L, Seritan   +2 more
openaire   +2 more sources

Clinical and Molecular Correlates of Abnormal Changes in the Cerebellum and Globus Pallidus in Fragile X Premutation

Frontiers in Neurology, 2022
BackgroundFragile X premutation carriers (55–200 CGG triplets) may develop a progressive neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS), after the age of 50.
Jun Yi Wang, Jim Grigsby, Diego Placido, Hongjiang Wei, Hongjiang Wei, Flora Tassone, Flora Tassone, Kyoungmi Kim, David Hessl, David Hessl, Susan M. Rivera, Susan M. Rivera, Susan M. Rivera, Randi J. Hagerman, Randi J. Hagerman   +14 more
doaj   +1 more source

premutation [PDF]

, 2020
Background Fragile X mental retardation 1 (FMR1) premutation can cause developmental problems including autism spectrum disorder (ASD), social anxiety, depression, and attention deficit hyperactivity disorder (ADHD). These problems fall under an umbrella
Ellery Santos, Flora Tassone, Santos, Ellery, Schneider, Andrea, Chinelo Emeka‐Nwonovo, Hagerman, Randi, Wang, Jun Yi, Emeka‐Nwonovo, Chinelo, Jun Yi Wang, Tassone, Flora, Andrea Schneider, Hagerman, Paul, Randi Hagerman, Paul Hagerman   +13 more
core   +1 more source

The Fragile-X Premutation: A Maturing Perspective [PDF]

The American Journal of Human Genetics, 2004
Carriers of premutation alleles (55-200 CGG repeats) of the fragile-X mental retardation 1 (FMR1) gene are often regarded as being clinically uninvolved. However, it is now apparent that such individuals can present with one (or more) of three distinct clinical disorders: mild cognitive and/or behavioral deficits on the fragile-X spectrum; premature ...
Hagerman, Paul J., Hagerman, Randi J.
openaire   +2 more sources

Spontaneous Coronary Artery Dissection in Females With the Fragile X FMR1 Premutation

JACC: Case Reports, 2020
This paper reports 2 cases of female carriers of the FMR1 premutation for developing spontaneous coronary artery dissection (SCAD). These women had classical presentations of premutation symptoms, including anxiety, depression, and connective tissue ...
Forrest J. McKenzie, BS, Nattaporn Tassanakijpanich, MD, Kelly C. Epps, MD, S. Kimara March, MD, Randi J. Hagerman, MD   +4 more
doaj   +1 more source

Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency

Acta Médica Portuguesa, 2021
Introduction: Chromosome abnormalities contribute to about 10% of cases of premature ovarian insufficiency. Most are associated with X chromosome. Fragile mental retardation 1 (FMR1) gene premutation has an estimated prevalence of 1% - 7% in sporadic ...
Ana Raquel Neves, Ana Sofia Pais, Susana Isabel Ferreira, Vera Ramos, Maria João Carvalho, Alexandra Estevinho, Eunice Matoso, Fernanda Geraldes, Isabel Marques Carreira, Fernanda Águas   +9 more
doaj   +1 more source

Cognitive Dysfunction in FMR1 Premutation Carriers [PDF]

Current Psychiatry Reviews, 2013
Premutation carriers of the fragile X mental retardation gene (especially men) older than 50 may develop a neurodegenerative disease, the fragile X-associated tremor/ataxia syndrome (FXTAS). Carriers may present with varied cognitive impairments. Attention, working memory, declarative and procedural learning, information processing speed, and recall ...
Andreea, Seritan, Jennifer, Cogswell, Jim, Grigsby   +2 more
openaire   +2 more sources

STUDY OF PRIMORDIAL FOLLICLE, CORPORA LUTEA AND Fmr1 mRNA LEVELS FROM OVARIUM OF Fmr1 GENE PREMUTATION MICE [PDF]

, 2010
Background : The FMR1 gene involves in fragile X-associated disorders (FAD), including the fragile X mental retardation syndrome, primary ovarian insufficiency (POI) and Fragile X associated tremor/ataxia syndrome.
Santoso, Santoso
core   +1 more source

Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations

BMC Medical Genetics, 2018
Background Premature ovarian failure / primary ovarian insufficiency (POF/POI) associated with the mutations of the FMR1 (Fragile-X Mental Retardation 1) gene belongs to the group of the so-called trinucleotide expansion diseases.
Artur Beke, Henriett Piko, Iren Haltrich, Veronika Karcagi, Janos Rigo, Maria Judit Molnar, György Fekete   +6 more
doaj   +1 more source