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JIMD Reports, Volume 67, Issue 2, March 2026.Abstract Data from a phase 2/3, randomized, controlled, open‐label, multicenter trial in children with neuronopathic mucopolysaccharidosis II (MPS II; Hunter syndrome) older than 3 years suggested a benefit of intrathecal idursulfase‐IT on cognitive functioning in some patients. We describe a separate, parallel, open‐label, single‐arm, 52‐week substudy
Joseph Muenzer +14 more
wiley +1 more source
MedComm – Future Medicine, Volume 5, Issue 1, March 2026.The DYRK family, a pivotal metabolic homeostasis regulator, mediates crosstalk between metabolic disorders and CKD via subtype‐specific mechanisms: DYRK1A drives diabetic (CKD risk), DYRK1B exacerbates metabolic renal injury, DYRK2 contributes to renal osteodystrophy, while DYRK3/4 remain unelucidated.
Yixuan Zhu +9 more
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Hippocampal Place Cell Sequences Are Impaired in a Rat Model of Fragile X Syndrome. [PDF]
J NeurosciDonahue MM, Robson E, Colgin LL.
europepmc +1 more source
Olfactory dysfunction and altered cortical excitability in the mouse model of Fragile X Syndrome. [PDF]
Biol ResArancibia F +7 more
europepmc +1 more source
Prevalence of fragile X syndrome in South Asia, and importance of diagnosis. [PDF]
Med Rev (2021)Fazna A, Hagerman RJ.
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Journal of Pediatric Health Care, 1989
Fragile X syndrome is one of the most intriguing genetic conditions now being studied. As the most common inherited form of mental retardation, it has an incidence of approximately 1 in 1000 male infants and boys. Because the cytogenetic diagnosis has only recently been available, many affected boys and female carriers have not yet been identified ...
A E, Cronister, R J, Hagerman
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Fragile X syndrome is one of the most intriguing genetic conditions now being studied. As the most common inherited form of mental retardation, it has an incidence of approximately 1 in 1000 male infants and boys. Because the cytogenetic diagnosis has only recently been available, many affected boys and female carriers have not yet been identified ...
A E, Cronister, R J, Hagerman
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Current Biology, 2002
Paul Hagerman and Randi Hagerman introduce the X-linked neurodevelopmental disorder Fragile X syndrome (FXS) and discuss what causes this disorder and how it can be treated.
Paul J, Hagerman, Randi, Hagerman
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Paul Hagerman and Randi Hagerman introduce the X-linked neurodevelopmental disorder Fragile X syndrome (FXS) and discuss what causes this disorder and how it can be treated.
Paul J, Hagerman, Randi, Hagerman
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Pediatrics, 2009
Despite earlier awareness of the need for pediatricians to recognize and diagnose developmental delay, the average age at diagnosis of fragile X syndrome (FXS) according to a study by Bailey et al,1 published in this issue of Pediatrics , has remained unchanged at 35 to 37 months of age.
Eriel Wallace, Hayes, Reuben, Matalon
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Despite earlier awareness of the need for pediatricians to recognize and diagnose developmental delay, the average age at diagnosis of fragile X syndrome (FXS) according to a study by Bailey et al,1 published in this issue of Pediatrics , has remained unchanged at 35 to 37 months of age.
Eriel Wallace, Hayes, Reuben, Matalon
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Archivio stomatologico, 1990
The fragile X syndrome include clinical features macroorchidism, ear large, prognathism, elongated facies, speech dysfunction, mental retardation and mitral valve prolapse. The interest for this syndrome is linked to the antibiotic prophylaxis for bacterial secondary endocarditis and bacteremia.
FEMIANO, Felice, COZZOLINO S.
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The fragile X syndrome include clinical features macroorchidism, ear large, prognathism, elongated facies, speech dysfunction, mental retardation and mitral valve prolapse. The interest for this syndrome is linked to the antibiotic prophylaxis for bacterial secondary endocarditis and bacteremia.
FEMIANO, Felice, COZZOLINO S.
+7 more sources
Journal of Inherited Metabolic Disease, 1997
AbstractThe fragile X syndrome is caused by the amplification of a polymorphic CGG repeat in the 5′ untranslated region of the FMR1 gene and is the most common form of inherited mental retardation. When the repeat is amplified beyond 200 repeat units, the repeat and the FMR1 promoter region are methylated.
Hoogeveen, Andre, Oostra, Ben
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AbstractThe fragile X syndrome is caused by the amplification of a polymorphic CGG repeat in the 5′ untranslated region of the FMR1 gene and is the most common form of inherited mental retardation. When the repeat is amplified beyond 200 repeat units, the repeat and the FMR1 promoter region are methylated.
Hoogeveen, Andre, Oostra, Ben
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