• HSP, also known as familial spastic paraplegias or Strumpell-Lorrain disease, comprises a clinically and genetically heterogeneous group of hereditary disorders characterized by slowly progressive spastic paraparesis. (medscape.com)
  • Ataxias are a highly heterogeneous group of diseases, both clinically and genetically. (movementdisorders.org)
  • USH is clinically and genetically heterogeneous. (molvis.org)
  • Autosomal recessive primary microcephaly (MCPH) is a clinically and genetically heterogeneous disorder. (nih.gov)
  • Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of disorders affecting the peripheral nervous system. (hindawi.com)
  • NCLs are a clinically and genetically heterogeneous group of neurodegenerative disorders, characterized by the intracellular accumulation of autofluorescent lipopigment storage material. (ucl.ac.uk)
  • Common variable immunodeficiency (CVID) is a clinically, genetically and immunologically heterogeneous primary immunodeficiency disease (PID). (mayo.edu)
  • Spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group accompanied by obvious pontocerebellar limi. (nel.edu)
  • it is a group of clinically and genetically diverse disorders that share a primary feature, which is the causation of progressive and generally severe lower extremity weakness and spasticity. (medscape.com)
  • IgGSc deficiency (IgGScD) is clinically and genetically heterogeneous, and may coexist with abnormal expression of more than 1 subclass antibody. (medscape.com)
  • A clinically and genetically heterogeneous group of mast cell disorders in which there is aberrant release of mast cell mediators with little to no accompanying proliferation of MAST CELLS. (bvsalud.org)
  • CMT is genetically heterogeneous with more than 30 genes identified to date. (hindawi.com)
  • Nonsyndromic CRDs are genetically heterogeneous (28 genes have been identified). (orpha.net)
  • They are genetically heterogeneous, meaning mutations in many different genes may be responsible. (chop.edu)
  • The cohort was genetically heterogenous, including 65 different genes. (lu.se)
  • Most cancers are genetically complex and heterogeneous, a serious obstacle to identifying specific genes underlying the disease. (mcw.edu)
  • PIDs are genetically diverse, with mutations in many different genes capable of causing immunodeficiency . (databasefootball.com)
  • 1 Genetically, SCZ is a heterogeneous heritable disorder. (nature.com)
  • Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. (nih.gov)
  • Waardenburg syndrome (WS) is a rare autosomally inherited and genetically heterogeneous disorder of neural crest cell development with distinct cutaneous manifestations. (bioline.org.br)
  • Waardenburg syndrome (WS) is an uncommon autosomally inherited and genetically heterogeneous disorder of neural crest cell development. (bioline.org.br)
  • Many inherited disorders and phenotypes are genetically heterogeneous - that is, pathogenic variants in more than one gene can cause one phenotype (e.g., dilated cardiomyopathy, ataxia, hereditary hearing loss and deafness) or one genetic disorder (e.g. (nih.gov)
  • Alport syndrome is a genetically heterogeneous disorder characterized by nephritic syndrome (ie, hematuria, proteinuria, hypertension, eventual renal insufficiency) often with sensorineural deafness and, less commonly, ophthalmologic symptoms. (msdmanuals.com)
  • In a population of genetically diverse individuals, the extent of genetic variation of a phenotype measures the overall sensitivity of individuals to mutations segregating in the population. (nature.com)
  • Children (over 12 months of age) and adults who have genetically confirmed mutations in both copies of the RPE65 gene may be candidates for gene therapy. (chop.edu)
  • Genetically, HSPs are classified by the mode of inheritance (autosomal dominant, autosomal recessive, and X-linked) and are subdivided by chromosomal locus or causative gene. (medscape.com)
  • MH also shows autosomal dominant inheritance, and is genetically heterogeneous with six susceptibility loci identified to date. (bmj.com)
  • LCA is most often inherited in an autosomal recessive manner and is genetically heterogeneous. (institut-vision.org)
  • Primary immunodeficiencies (PID) are a heterogeneous group of disorders that disturb the host's immunity, creating susceptibility to infections. (databasefootball.com)
  • H ereditary Dystrophies of the Retina (HDR) are extraordinarily complex and genetically heterogeneous pathologies. (fundacionareces.es)
  • Clonal i.e., groups of genetically similar isolates descending from complexes (CC) were defi ned as groups of STs differing a common ancestor, a variety of typing methods have by only 1 gene from another member of the group ( 12 ) been used, including pulsed-fi eld gel electrophoresis ( 5 , 6 ), and were considered as clones. (cdc.gov)
  • Depending on the group, the cancer populations grew up in combinations of either genetically different or clonal cells. (medicalxpress.com)
  • Pediatric T-cell acute lymphoblastic leukemia (T-ALL) is a genetically heterogeneous disease that arises in a multistep fashion through acquisition of several genetic aberrations, subsequently giving rise to a malignant, clonal expansion of T-lymphoblasts. (lu.se)
  • Fifteen genetically diverse models developed bone marrow (BM) tumors fulfilling MM pathogenesis. (unav.edu)
  • Osteosarcomas with few chromosomal alterations or adult onset are genetically heterogeneous. (lu.se)
  • Cancers are biologically complex and genetically heterogeneous. (ajmc.com)
  • Familial hemophagocytic lymphohistiocytosis is a genetically heterogeneous condition characterized by defective cytotoxicity. (lu.se)
  • Numerous clinical reports have documented that HSP syndromes are heterogeneous. (medscape.com)
  • GBM is a genetically heterogeneous disease. (elifesciences.org)
  • Ovarian cancer is a genetically very heterogeneous disease, which makes it exceptionally difficult to study and treat. (medicalxpress.com)
  • There is currently a debate whether bias from population stratification (the mixture of individuals from heterogeneous genetic backgrounds) undermines the credibility of epidemiologic studies designed to estimate the association between genotype and risk of disease. (cdc.gov)
  • Integrative analyses of similar to 500 mice and similar to 1,000 patients revealed a common MAPK-MYC genetic pathway that accelerated time to progression from precursor states across genetically heterogeneous MM. MYC-dependent time to progression conditioned immune evasion mechanisms that remodeled the BM microenvironment differently. (unav.edu)
  • Le taux et le traitement des patients orientés vers un service spécialisé grâce à une lettre adressée au spécialiste varient globalement en fonction du lieu de soins et cette orientation dépend d'une série de facteurs liés aux consommateurs de santé, aux prestataires et aux systèmes de prestation de soins de santé. (who.int)
  • New experimental models provide much-needed tools for understanding how genetically diverse multiple myeloma progresses and evolves in response to therapy. (unav.edu)
  • The paper, titled "Sex- and age-dependent genetics of longevity in a heterogeneous mouse population ," is in the October 2022 issue of Science . (eurekalert.org)
  • The population of EGFR mutation-positive NSCLC is genetically heterogeneous - which has presented challenges in the development of effective therapies. (drug-dev.com)
  • Biocatalysis: processes catalysed by enzymes or whole cells, use of genetically modified organisms, etc. (upv.es)
  • They are genetically highly heterogeneous. (joshuaproject.net)
  • Autism is a highly heterogeneous condition, genetically and phenotypically. (frontiersin.org)
  • The disease is genetically highly heterogeneous, and the pathogenic mechanisms are largely unknown. (helsinki.fi)
  • Despite the phenotypic convergence of its core symptoms (impaired language, restriction in sociability and stereotypies, invariably coupled to anxiety and often associated to varying degrees of intellectual disability), ASD is genetically highly heterogeneous, with hundreds of bona fide causative genetic lesions. (europa.eu)
  • HSP, also known as familial spastic paraplegias or Strumpell-Lorrain disease, comprises a clinically and genetically heterogeneous group of hereditary disorders characterized by slowly progressive spastic paraparesis. (medscape.com)
  • Spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group accompanied by obvious pontocerebellar limi. (nel.edu)
  • Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal degenerations. (sdbonline.org)
  • Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. (cancerindex.org)
  • Autosomal Recessive Congenital Ichthyosis (ARCI) is a rare and genetically heterogeneous disorder characterized by hyperkeratosis in addition to dry, scaly skin. (bham.ac.uk)
  • The effect was seen at three independent test sites in genetically heterogeneous mice, chosen to avoid genotype-specific effects on disease susceptibility. (nih.gov)
  • Nordihydroguaiaretic acid and aspirin increase lifespan of genetically heterogeneous male mice. (nih.gov)
  • Rapamycin, But Not Resveratrol or Simvastatin, Extends Lifespan of Genetically Heterogeneous Mice. (nih.gov)
  • Evaluation of resveratrol, green tea extract, curcumin, oxaloacetic acid, and medium chain triglyceride oil on lifespan of genetically heterogeneous mice. (nih.gov)
  • Mitochondrial disease is a collective term that encompasses the genetically and clinically heterogeneous group of diseases due to defects in mitochondrial oxidative phosphorylation. (springer.com)
  • Evidence that hereditary pancreatitis is genetically heterogeneous disorder. (nih.gov)
  • The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. (nih.gov)
  • Infantile cardiomyopathy is a genetically heterogeneous disorder with significant morbidity and mortality. (bmj.com)
  • HD phenocopies are clinically and genetically diverse and a definitive genetic diagnosis is currently possible in only a minority of cases. (nih.gov)
  • The PBD group is genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. (ucsc.edu)
  • ASD is genetically heterogeneous, with hundreds of causative genetic lesions, despite the phenotypic similarities of its core symptoms, such as impaired language and restrictions in sociability. (europa.eu)
  • This contrasts with the clinical situation in which pain predominantly occurs in middle-aged or elderly female patients with comorbidities, polypharmacy and with heterogenous genetic background. (iasp-pain.org)
  • Clonal i.e., groups of genetically similar isolates descending from complexes (CC) were defi ned as groups of STs differing a common ancestor, a variety of typing methods have by only 1 gene from another member of the group ( 12 ) been used, including pulsed-fi eld gel electrophoresis ( 5 , 6 ), and were considered as clones. (cdc.gov)
  • Single Cell Dynamics Group is interested in understanding why genetically identical cells respond heterogenous to environmental stimuli. (nih.gov)
  • The term Alport syndrome encompasses a group of inherited, heterogeneous disorders involving the basement membranes of the kidney and frequently affecting the cochlea and eye as well. (medscape.com)
  • These data suggest that the breast-ovarian cancer-family syndrome is genetically heterogeneous. (nih.gov)
  • New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder. (nih.gov)
  • 8. How genetically heterogeneous is Kabuki syndrome? (nih.gov)
  • MM is a genetically heterogeneous cancer of plasma cells characterized by multiple focal lesions in the bone marrow (BM). (muni.cz)
  • We show that GC synaptic diversity is underlain by heterogeneous expression of synapsin II, a key actor of STP and that GC terminals devoid of synapsin II are associated with slow MLI recruitment. (elifesciences.org)
  • These new resources offer substantial advances to classical toxicity testing paradigms by including genetically sensitive individuals that may inform toxicity risks for sensitive subpopulations. (nih.gov)
  • We therefore cannot extrapolate these findings to the genetically heterogeneous human population. (imsociety.org)
  • We investigate chemically-induced carcinomas, namely DMBA/TPA-induced cutaneous squamous cell carcinomas that are genetically heterogenous and share many features with human cancers. (ucsf.edu)
  • Hence we hypothesize that childhood HSE is a genetically heterogeneous disease and that other single gene inborn errors of immunity may explain HSE in other patients. (europa.eu)