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Monogenic corneal disorders in children
Acta Ophthalmologica, 2015SummaryPediatric monogenic corneal disorders tend to be under‐recognized or misdiagnosed. However, careful phenotyping distinguishes several such conditions and can sometimes predict the underlying gene mutations. After this presentation, the attendee will be familiar with phenotype‐genotype correlations for selected monogenic corneal disorders in ...
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Monogenic immune disorders and severe atopic disease
Nature Genetics, 2017Severe allergic disease is common, and few monogenic causes of atopy have been described. A new study that convincingly links severe atopic dermatitis to heterozygous CARD11 mutations with dominant-interfering activity serves as a timely reminder that clinicians should consider the possibility of an underlying monogenic immune disorder when caring for ...
Catherine M, Biggs +2 more
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Gene table: Monogenic determined neurocutaneous disorders
European Journal of Paediatric Neurology, 2010Neurocutaneous disorders are often associated with epilepsy, psychomotor development delay, and other neurological abnormalities. Recently, a great progress has been achieved in understanding the pathogenesis of many neurocutaneous disorders. This work presents very concise review of molecular background of monogenic determined neurocutaneous disorders.
Sergiusz, Jóźwiak, Katarzyna, Kotulska
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Pharmacogenomics of Rare and Monogenic Disorders
2008The rare monogenic diseases provide the most clearly evident examples of pathology resulting from a single genetic lesion. As such, they are in some sense the "low hanging fruit" for the application of pharmacogenomic therapeutic approaches. These quite often serious diseases, while still not fully understood, have seen a revolution in both disease ...
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Gene therapy strategies for rare monogenic disorders with nuclear or mitochondrial gene mutations
Biomaterials, 2021Yi Wang, Tian-Jiao Zhou, Jaiwoo Lee
exaly
[Monogenic disorders of human obesity].
Nihon rinsho. Japanese journal of clinical medicine, 2009Although the recent pandemic of obesity is apparently driven by environmental factors, the influence of genetic factors has also increasingly been recognized. Monogenic inheritance of obesity has been documented in several human disorders and some of their etiological basis has been elucidated at the molecular level.
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European Journal of Paediatric Neurology, 2011
Katarzyna Kotulska, Sergiusz Jóźwiak
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Katarzyna Kotulska, Sergiusz Jóźwiak
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From late fatherhood to prenatal screening of monogenic disorders: evidence and ethical concerns
Human Reproduction Update, 2021Lidiia Zhytnik +2 more
exaly