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Genotype–phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD–DMD database: a model of nationwide knowledgebase
TLDR
This national centralized resource will contribute to a greater understanding of prevalence of dystrophinopathies in France, and in particular, of the true frequency of BMD, which was found to be almost half (43%) that of DMD. Expand
The three stages of epilepsy in patients with CDKL5 mutations
Mutations in the X‐linked cyclin‐dependent kinase‐like 5 (CDKL5) gene are responsible for a severe encephalopathy with early epilepsy. So far, the electroclinical phenotype remains largely unknownExpand
Key clinical features to identify girls with CDKL5 mutations.
TLDR
It is shown that search for mutations in CDKL5 is indicated in girls with early onset of a severe intractable seizure disorder or infantile spasms with severe hypotonia, and inGirls with RTT-like phenotype and early onset seizures, though, in this cohort, mutations in CDsL5 account for about 10% of the girls affected by these disorders. Expand
The UTX gene escapes X inactivation in mice and humans.
TLDR
The characterization of a widely transcribed X- linked homologue of Uty, called Utx, is reported, which maps to the proximal region of the mouse X chromosome and which detects a human X-linked homologue at Xp11.2. Expand
Mutational spectrum of CDKL5 in early‐onset encephalopathies: a study of a large collection of French patients and review of the literature
TLDR
The overall frequency of mutations in CDKL5 in women with early‐onset seizures is around 8.6%, a result comparable with previous reports, but the mutation rate is high (28%) in womenwith early‐ONSet seizures and IS, and a review of all mutated alleles published in the literature. Expand
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human
TLDR
It is proposed that the human DIA gene is one of the genes responsible for POF and that it affects the cell divisions that lead to ovarian follicle formation. Expand
The signal transducer and activator of transcription STAT5b gene is a new partner of retinoic acid receptor alpha in acute promyelocytic-like leukaemia.
TLDR
This study identified STAT5b as a new gene fused to RARA in leukaemia; this is the first human tumour bearing a structurally abnormal STAT gene. Expand
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy
TLDR
It is predicted that an optimal multiexon skipping leading to the del45‐55 artificial dystrophin could transform the DMD phenotype into the asymptomatic or mild BMD phenotype, and this multiple‐exon skipping could theoretically rescue up to 63% of DMD patients with a deletion. Expand
Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females
TLDR
These new cases given additional support to the genetic heterogeneity in RTT and help to delineate the clinical spectrum of the FOXG1-related phenotypes should be considered in the molecular diagnosis of RTT. Expand
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.
TLDR
The missense mutations in EXT1 and EXT2 may pinpoint crucial domains in both proteins and therefore give clues for the understanding of the pathophysiology of this skeletal disorder. Expand
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