X-Linked Mental Retardation
A computational approach to candidate gene prioritization for X-linked mental retardation using annotation-based binary filtering and motif-based linear discriminatory analysis
... identified linked region is performed to focus the candidate region and reduce the number of putative candidate genes, and mutation detection is done to uncover the genetic cause of the disorder ...
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Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome
... protein structure suggests a role in chromatin regula- tion, it is not clear whether ATRX imparts predomi- nantly a blocking or a positive effect on gene expression. The complexity of the syndrome suggests that ATRX ...
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Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28
... from MRC-Holland (Amsterdam, Netherlands) were used for all samples. The MECP2 MLPA kit contained 20 probe pairs that targeted 4 MECP2 exons, 6 X-linked control regions (including 1 L1CAM probe pair), and ...
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A clinical series using intensive neurorehabilitation to promote functional motor and cognitive skills in three girls with CASK mutation
... the X-linked intellectual disability gene (XLID) CASK is one etiology associated with microcephaly which produces mental retardation and microcephaly with pontine and cerebellar hypoplasia ...
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Ketogenic diets as an adjuvant therapy in glioblastoma (the KEATING trial): study protocol for a randomised pilot study
... AE: Adverse event; ATRX: Alpha-thalassemia/mental retardation syndrome x- linked mutation; BMI: Body mass index; CI: Chief investigator; CRF: Case report form; EORTC: European Organisati[r] ...
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Diagnosis and treatment of ALT tumors: is Trabectedin a new therapeutic option?
... appears to be one of the key factors determining the choice between TA and ALT. In this regard, the presence of one or more epigenetic repressors determining the TA to ALT switch has been known from years [34]. One of ...
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Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28
... from MRC-Holland (Amsterdam, Netherlands) were used for all samples. The MECP2 MLPA kit contained 20 probe pairs that targeted 4 MECP2 exons, 6 X-linked control regions (including 1 L1CAM probe pair), and ...
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Molecular and Comparative Genetics of Mental Retardation
... nard and Wen 2002), it is often defined by an IQ of Many environmental and genetic factors can cause ⬍70, with deficits in adaptive skills included as diagnos- MR, including premature birth, prenatal infections, tic ...
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MET in glioma: signaling pathways and targeted therapies
... (α-thalassemia/mental retardation syndrome X-linked gene), which promotes tumor growth and impairs nonho- mologous end joining DNA repair in glioma ...
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X linked ichthyosis associated with psychosis and behavioral abnormalities: a case report
... The boy was born at 28 weeks’ gestation by spontan- eous vaginal delivery after an uneventful and uncompli- cated pregnancy. He had a low birth weight of 1.5 kg (below the 5th centile). During pregnancy, his mother took ...
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Alpha thalassaemia-mental retardation, X linked
... thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha ...is X-linked recessive ...
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Fragile-X Syndrome Ascertained by the Presence of Macro-orchidism in a 5-Month-Old Infant
... The fragile-X syndrome is now a well-docu- mented X-linked form of mental retardation; it has been estimated to affect one in every 1,000 to 2,000 live-born males.’7 The diagnosis is est[r] ...
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Neuroradiologic Features in X linked α Thalassemia/Mental Retardation Syndrome
... MATERIALS AND METHODS We reviewed the brain MRI/CT findings of 27 Japanese patients with ATR-X who exhibited ATRX mutations retrospec- tively. The images came from our medical center and from referrals sent to our ...
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Distal Xq duplication and functional Xq disomy
... the X chromosome ...unbalanced X/Y or X/ autosome translocation. In XY males, structural X disomy always results in functional ...of X chromosome dosage compensation could result from a ...
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Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome
... criteria, minimum of three consecutive probes with p < 0.01, F value across the region >50 and methylation difference > ±15% (i.e., at least a 15% methylation differ- ence), showed an overrepresentation of genes ...
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Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders
... severe mental retardation in about 25% of cases. Since the disorder is X-linked and the penetrance is variable, females are usually in a low-normal range, with an IQ ranging from 70 to 90 ...
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Progress toward therapeutic potential for AFQ056 in Fragile X syndrome
... Fragile X syndrome (FXS) is the most common form of inherited intellectual dis- ability and the leading single-gene cause of ...Fragile X mental retardation protein (FMRP), resulting in ...
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Women’s Mental Health and Mental retardation
... and Mental Health Services Administration, 29 million American women, or about 23 percent of the female population, have experienced a diagnosable mental health-related disorder in a year and those are just ...
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Clinical expression of Menkes disease in females with normal karyotype
... mutant X-chromosome concurs with the recent paper by Desai et ...mutant X-chromosome was observed in one Menkes family with 6 heterozygous ...mutant X chro- mosme in most unaffected ...mutant ...
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Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
... We acquired fibroblast cultures of affected individuals to perform measurements under the same experimental conditions repeatedly. The marker FLAER, which binds to the GPI anchor directly, as well as the GPI-APs CD55, ...
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