Results 51 to 60 of about 17,892,622 (135)

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   +1 more source

Fenótipos em portadoras brasileiras da pré-mutação da síndrome do X-Frágil [PDF]

, 2012
TCC(graduação) - Universidade Federal de Santa Catarina. Centro de Ciências Biológicas. Biologia.A Síndrome do X-Frágil (SXF) é a forma mais comum de deficiência intelectual herdada.
Andrade, Daiane de
core  

Fragile X spectrum disorders [PDF]

, 2014
The fragile X mental retardation 1 gene (FMR1), which codes for the fragile X mental retardation 1 protein (FMRP), is located at Xp27.3. The normal allele of the FMR1 gene typically has 5 to 40 CGG repeats in the 5' untranslated region; abnormal alleles ...
Lozano, Reymundo, Hagerman, Randi J, Rosero, Carolina Alba   +2 more
core   +1 more source

Fragile X-associated disorders: Don't miss them [PDF]

, 2017
Background Fragile X-associated disorders are a family of inherited disorders caused by expansions in the Fragile X Mental Retardation 1 (FMR1) gene.
Birch, RC ; https://orcid.org/, Trollor, JN ; https://orcid.org/, Cohen, J   +2 more
core  

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.

, 2023
The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5’ untranslated region and increased levels of FMR1 mRNA. Molecular mechanisms leading to
Melissa Raspa (7534802), Emily Graves Allen (11509864), Reymundo Lozano (4533649), Katharine Shelly (17286910), Dejan B Budimirovic (17286874), Brett Dufour (17286877), Molly Losh (5120810), Federica Alice Maria Montanaro (14654654), Jessica Klusek (11526796), Peter K Todd (17286913), Marsha R Mailick (5822288), Nicola Elvassore (121419), Karen Lipworth (17286892), Ted W Brown (17286871), Deborah A Hall (16054376), Dragana Protic (5777135), Flora Tassone (207299), Robert M Miller (17286898), Veronica Martinez-Cerdeno (17286895), Jessica Ezzell Hunter (11509870), Peng Jin (216301), Abigail Hogan (5120813), Rachel Eiges (216104), R Frank Kooy (17286886), Cecilia Laterza (4821909), Marwa Zafarullah (12527002), Matthew W Mosconi (17286901), Katarzyna Tutak (17286916), Danuta Loesch-Mdzewska (9478565), Jun Yi Wang (2805190), Lidia V Gabis (17286880), Poonnada Jiraanont (12526993), Sarah Nelson Potter (17286904), Samantha J Grudzien (17286883), Apostolos Manolopoulos (6596681), Jonathan Cohen (26835), David Hessl (2805181), Yingratana McLennan (6587582), Susan M Rivera (17286907), Anna Baud (3719770), Alison D Archibald (17286868), Andrea Lee (7519388), Anne Wheeler (14514257), Tri Indah Winarni (3826342), Claudine M Kraan (17286889), Randi J Hagerman (17286919)   +45 more
core   +2 more sources

Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers

Journal of Ovarian Research
Background Fragile X-associated primary ovarian insufficiency (FXPOI), characterized by amenorrhea before age 40 years, occurs in 20% of female FMR1 premutation carriers. Presently, there are no molecular or biomarkers that can help predicting which FMR1
Ines Agusti, Maria Isabel Alvarez-Mora, Robin Wijngaard, Aina Borras, Tamara Barcos, Sara Peralta, Marta Guimera, Anna Goday, Dolors Manau, Laia Rodriguez-Revenga   +9 more
doaj   +1 more source

Timing of Expansion of Fragile X Premutation Alleles During Intergenerational Transmission in a Mouse Model of the Fragile X-Related Disorders

Frontiers in Genetics, 2018
Fragile X syndrome (FXS) is caused by the maternal expansion of an unstable CGG-repeat tract located in the first exon of the FMR1 gene. Further changes in repeat number occur during embryogenesis resulting in individuals sometimes being highly mosaic ...
Xiao-Nan Zhao, Karen Usdin
doaj   +1 more source

Fragile X Disorders among Nigerian Children with neurodevelopmental delays and women with suspected Fragile X-associated Primary Ovarian Insufficiency

This dataset contains information of a pilot targeted screening for Fragile X disorders among Nigerian children with neurodevelopmental disorders and women with Fragile X-associated Primary Ovarian Insufficiency (FXPOI).
mbachu, chioma
core   +1 more source

Table_1_Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review.DOCX

, 2021
FMR1 premutation is defined by 55–200 CGG repeats in the Fragile X Mental Retardation 1 (FMR1) gene. FMR1 premutation carriers are at risk of developing a neurodegenerative disease called fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X ...
Andrea Elias-Mas (11568478), Laia Rodriguez-Revenga (11105337), Conxita Caro-Benito (11568484), Maria Isabel Alvarez-Mora (11568481)   +3 more
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