Pages that link to "Q52862565"

The following pages link to Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study. (Q52862565):

Displaying 34 items.

• On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis (Q33673489) (← links)
• Recurrence risk for germinal mosaics revisited (Q33675720) (← links)
• The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol (Q33679539) (← links)
• Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1. (Q33680835) (← links)
• Somatic mosaicism in hemophilia A: a fairly common event. (Q34020470) (← links)
• Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B. (Q34146295) (← links)
• Risk assessment and genetic counseling in families with Duchenne muscular dystrophy (Q34341436) (← links)
• Mutations in btk in patients with presumed X-linked agammaglobulinemia (Q34385386) (← links)
• Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain (Q34389940) (← links)
• Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene (Q34390757) (← links)
• Human germline mutation in the factor IX gene (Q34397965) (← links)
• Estimating mutation rate: how to count mutations? (Q34617780) (← links)
• Germinal mosaicism and risk calculation in X-linked diseases (Q35195508) (← links)
• Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk (Q35196093) (← links)
• Identification and quantification of somatic mosaicism for a point mutation in a Duchenne muscular dystrophy family (Q35432280) (← links)
• Recent advances in understanding muscular dystrophy (Q35534859) (← links)
• Experience and strategy for the molecular testing of Duchenne muscular dystrophy (Q35789975) (← links)
• Somatic mosaicism in a patient with neurofibromatosis type 1. (Q35881534) (← links)
• Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females. (Q35889152) (← links)
• Mosaicism: the embryo as a target for induction of mutations leading to cancer and genetic disease (Q40549888) (← links)
• Genotype-phenotype correlations in X-linked myotubular myopathy (Q44239691) (← links)
• Comparative multiplex dosage analysis detects whole exon deletions at the phenylalanine hydroxylase locus (Q44375034) (← links)
• Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase (Q48006442) (← links)
• X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1). (Q48091038) (← links)
• Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy (Q48245959) (← links)
• Clusters of identical new mutation in the evolutionary landscape (Q50983524) (← links)
• Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures. (Q54764281) (← links)
• Medical genetics: advances in brief: Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study. (Q55501087) (← links)
• Birth and population prevalence of Duchenne muscular dystrophy in The Netherlands (Q67737720) (← links)
• Complex genetic counseling and exclusion of Duchenne muscular dystrophy in a twin pregnancy after in vitro fertilization (IVF) (Q72423574) (← links)
• Service provision of complex mutation analysis: a technical and economic appraisal using dystrophin point mutation analysis as an example (Q74476740) (← links)
• Germline mosaicism of MPZ gene in Dejerine-Sottas syndrome (HMSN III) associated with hereditary stomatocytosis (Q77982640) (← links)
• High frequency of de novo deletions in Mexican Duchenne and Becker muscular dystrophy patients. Implications for genetic counseling (Q78048699) (← links)
• Comprehensive genetic diagnosis of patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and pathogenicity analysis of splice site variants in the DMD gene (Q92400044) (← links)