[PDF] Top 20 Genotype-phenotype correlations in FSHD
Has 10000 "Genotype-phenotype correlations in FSHD" found on our website. Below are the top 20 most common "Genotype-phenotype correlations in FSHD".
Genotype-phenotype correlations in FSHD
... Background: Facial-scapular-humeral myodystrophy Landouzy-Dejerine (FSHD) is an autosomal dominant disease, the basis of its pathogenesis is ectopic expression of the transcription factor DUX4 in skeletal muscle. ... See full document
7
PAX6 molecular analysis and genotype phenotype correlations in families with aniridia from Australasia and Southeast Asia
... One proband carried a missense variant predicted to be deleterious in exon 5, p.(Ile29Thr)). Missense variants associated with aniridia occur more often in exons 5–6 that encode the paired domain important for DNA ... See full document
13
Mutational spectrum of the APC and MUTYH genes and genotype–phenotype correlations in Brazilian FAP, AFAP, and MAP patients
... and genotype-phenotype correlations The following clinical and pathological data were obtained from all families from the Hereditary Colorectal Cancer Registry of ...families. ... See full document
12
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study
... clinical phenotype did not ap- pear to be related to a specific mutation site within the protein ...possible genotype-phenotype correlations, we analyzed the allelic frequency of the common ... See full document
9
Fabry Disease: Twenty Novel α-Galactosidase A Mutations and Genotype-Phenotype Correlations in Classical and Variant Phenotypes
... mild phenotype. These findings suggested that he has an intermediate phenotype, perhaps similar to the recently described renal variant (Nakao et ... See full document
7
Prevalence and management of Gaucher disease
... permitted genotype/ phenotype correlations based on the degree of organ involve- ment and progression and age of ...N370S/84GG genotype have a median age of onset/diagnosis of ∼ 6 years, ... See full document
15
R248G cystic fibrosis transmembrane conductance regulator mutation in three siblings presenting with recurrent acute pancreatitis and reproductive issues: a case series
... Background: Mutational combinations of the cystic fibrosis transmembrane conductance regulator, CFTR, gene have different phenotypic manifestations at the molecular level with varying clinical consequences for ... See full document
5
Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency
... of genotype-phenotype correlations indicated that larger deletions were associated with increased levels of dysmorphic features, medical comorbidities and social communication impairments related to ... See full document
17
Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations
... deleterious, could affect the function of the preserved copy of those genes, modulating the neurobehavioral phenotype of the subject and contributing to the hetero- geneity in the clinical presentation of PMS. ... See full document
9
X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males
... Genotype–phenotype correlations in the kidney have been studied for X-linked AS disease [15, 16]; however, there are fewer studies regarding the human inner ear in ... See full document
11
MYH9-related disease: A novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations
... Consideration of the molecular interactions within the myosin head allows us to propose a testable hypothesis for the basis of the differences between MD/SH3 interface and R702 mutations. Hu and colleagues reported that ... See full document
52
Next generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations
... marfanoid phenotype, and finally in 2005 Loeys and colleagues distinguished and characterized LDS as the separate entity caused by defects in the TGFBR1 and TGFBR2 genes ... See full document
17
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions
... Facial dysmorphisms in our patient CCM067 are cha- racteristic of BPES, consistent with her 3q deletion encompassing FOXL2 , the BPES causative gene [21]. However, this patient also had additional distinctive features, ... See full document
7
Delineation variable genotype/phenotype correlations of 6q27 terminal deletion derived from dic(6;18)(q27;p10)
... clinical phenotype that affects approxi- mately half of 6q27 deletion ...this phenotype, and long-lasting repercussions of hypotonia without corrective procedures, include scoliosis, pelvic obliquity, genu ... See full document
7
<p>Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype–phenotype correlations</p>
... Notes: The pathophysiologic pathways linking a GLA gene mutation to a clinical phenotype of FD are represented at the top of the figure. Selected examples of related molecular and biochemical mechanisms; cellular, ... See full document
16
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations
... There are evident genotype-phenotype correlations in EXOSC3 -mediated PCH reflected in clinical outcome, age of death and pons hypoplasia: patients with a homozygous p.D132A mutation hav[r] ... See full document
10
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia
... (<2.5 × 10 − 5 in public databases) missense variant (c.955 T > C; p.C319R in exon 12). Only one of these variants was present in the father (c.955 T > C; p.C319R). No other rare homozygous or compound het- ... See full document
7
The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype
... challenging as it is not amenable to PCR-based sequencing. However, a number of groups have now optimised South- ern hybridisation-based techniques [1, 70, 71] which allow sizing of the expansion. So far, in a pure ALS ... See full document
13
Genotype–Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients
... We studied 25 DM1 families, a total of 46 individuals, among which 35 were diagnosed with a CTG repeat expansion. Clinical and molecular data were available on a total of 26 affected individuals for analysis of ... See full document
5
Genetic diagnosis in Lafora disease: Genotype–phenotype correlations and diagnostic pitfalls
... Results. A de novo heterozygous c.406C ¡ T muta- tion in exon 4 of the LGI1/Epitempin gene, resulting in an arginine to tryptophan substitution at position 136 (Arg136Trp), was detected by denaturing high- performance ... See full document
5
Related subjects