Copy Number Variants in Candidate Genes Are Genetic Modifiers of Hirschsprung Disease
نویسندگان
چکیده
منابع مشابه
Copy Number Variants in Candidate Genes Are Genetic Modifiers of Hirschsprung Disease
Hirschsprung disease (HSCR) is a neurocristopathy characterized by absence of intramural ganglion cells along variable lengths of the gastrointestinal tract. The HSCR phenotype is highly variable with respect to gender, length of aganglionosis, familiality and the presence of additional anomalies. By molecular genetic analysis, a minimum of 11 neuro-developmental genes (RET, GDNF, NRTN, SOX10, ...
متن کاملCopy Number Variants in Alzheimer’s Disease
Alzheimer's disease (AD) is a devastating disease mainly afflicting elderly people, characterized by decreased cognition, loss of memory, and eventually death. Although risk and deterministic genes are known, major genetics research programs are underway to gain further insights into the inheritance of AD. In the last years, in particular, new developments in genome-wide scanning methodologies ...
متن کاملConfirmed rare copy number variants implicate novel genes in schizophrenia.
Understanding how cognitive processes including learning, memory, decision making and ideation are encoded by the genome is a key question in biology. Identification of sets of genes underlying human mental disorders is a path towards this objective. Schizophrenia is a common disease with cognitive symptoms, high heritability and complex genetics. We have identified genes involved with schizoph...
متن کاملHuman copy number variants are enriched in regions oflow-mappability
Department of Human Genetics, McGill University, Montréal, H3A 1B1, Canada McGill University and Génome Québec Innovation Center, Montréal, H3A 1A4, Canada Centre de Recherche du Centre Hospitalier de l’Université de Montréal, Montreal, H2X 0A9, Québec, Canada. Montreal Neurological Institute, McGill University, Montréal, H3A 2B4, Québec, Canada. Département des sciences fondamentales, Universi...
متن کاملmitochondrial copy number and d-loop variants in pompe patients
objective: pompe disease is a rare neuromuscular genetic disorder and is classified into two forms of early and late-onset. over the past two decades, mitochondrial abnormalities have been recognized as an important contributor to an array of neuromuscular diseases. we therefore aimed to compare mitochondrial copy number and mitochondrial displacement-loop sequence variation in infantile and ad...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: PLoS ONE
سال: 2011
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0021219