Results 71 to 80 of about 108,171 (302)
Detection of the founder effect in Finnish CADASIL families [PDF]
European Journal of Human Genetics, 2004 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease characterized by brain infarcts, cognitive decline and dementia. The disease is caused by at least 91 missense mutations, four deletions and one splice site mutation in the NOTCH3 gene, which maps to 19p13.1.
Kati, Mykkänen +10 more
openaire +2 more sources
The Role of Hematopoietic Cell Transplantation in Ataxia‐Telangiectasia
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Ataxia‐telangiectasia (A‐T) is a DNA repair disorder characterized by neurodegeneration, immunodeficiency, and cancer predisposition. Hematopoietic cell transplantation (HCT) is an established therapy in related disorders such as Fanconi anemia (FA) and Nijmegen breakage syndrome (NBS), but its role in A‐T is unclear.
Laila Alkhouli +3 more
wiley +1 more source
, 2021 OBJECTIVE: To describe a founder mutation effect and the clinical phenotype of homozygous BACKGROUND: EIEE-37 is caused by biallelic loss of function variants in the METHODS: A retrospective, multicenter chart review of patients sharing the same ...
Walsh, Laurence E +19 more
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Twin Town in South Brazil: a Nazi's experiment or a genetic founder effect? [PDF]
, 2011 Cândido Godói (CG) is a small municipality in South Brazil with approximately 6,000 inhabitants. It is known as the "Twins' Town" due to its high rate of twin births.
Steinman Gary +29 more
core +2 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Pediatric sarcomas are a heterogeneous group of tumors that contribute disproportionately to cancer mortality in children. Although congenital anomalies are among the strongest known risk factors for childhood cancer, the risk of specific sarcoma subtypes among affected individuals has not yet been thoroughly evaluated. Procedure We
Russ Wolters +17 more
wiley +1 more source
LandIn 1982 a conservation project was initiated to restore glade communities in the Missouri Ozarks with a special emphasis on collared lizards (Crotophytus collaris), a state threatened species at the time.
Alan R. Templeton, Jennifer L. Neuwald
doaj +1 more source
Supporting Survivor‐Centered Care Through Digital Health Integration
Pediatric Blood &Cancer, EarlyView.ABSTRACT Survivors of childhood cancer face barriers to receiving guideline‐based, long‐term follow‐up care. Two digital tools, Passport for Care (PFC) and Cancer SurvivorLink (SurvivorLink), address complementary gaps by enabling tailored survivorship care plan (SCP) generation, updating, storage, and sharing.
Jordan G. Marchak +15 more
wiley +1 more source
Вавиловский журнал генетики и селекцииPathogenic variants in the SLC26A4 gene (OMIM #605646), leading to non-syndromic recessive hearing loss type 4 (DFNB4) and Pendred syndrome, significantly contribute to the etiology of hearing loss in many populations of the world.
V. Yu. Danilchenko +4 more
doaj +1 more source
Therapeutic Apheresis and Dialysis, EarlyView.ABSTRACT Background Neuromyelitis optica spectrum disorder (NMOSD) is a relapsing autoimmune disease of the central nervous system. High‐dose intravenous methylprednisolone (IVMP) is the standard first‐line therapy for acute attacks, although some patients remain refractory.
Wataru Horiguchi +5 more
wiley +1 more source
Understanding the Relationship between Founder-CEOs and Firm Performance [PDF]
, 2003 While previous empirical literature has examined the effect of founder-CEOs on firm perfor- mance, it has largely ignored the effect of firm performance on founder-CEO status.
Ferreira, Daniel +2 more
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