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Research

Multinodular goiter in children: An important pointer to a germline DICER1 mutation

This paper is a clinical report of a boy presenting with a kidney cyst. Family history and genetic analysis revealed the family had a mutation in the DICER1...

Research

Environmental, personal, and genetic determinants of response to vitamin D supplementation in older adults

We aimed to examine genetic and nongenetic determinants of change in serum 25-hydroxyvitamin D (25(OH)D) after supplementation.

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Human active X-specific DNA methylation events showing stability across time and tissues

The phenomenon of X chromosome inactivation in female mammals is well characterised and remains the archetypal example of dosage compensation via monoallelic...

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Keyhole limpet haemocyanin - A model antigen for human immunotoxicological studies

This report systematically reviews the human clinical studies that have used trans-cutaneous KLH immunization for assessment of the influence of various...

Research

Community participation for girls and women living with Rett syndrome

This paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome.

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Host genetic factors in American cutaneous leishmaniasis: A critical appraisal of studies conducted in an endemic area of Brazil

This paper reviews American cutaneous leishmaniasis (ACL) immunogenetics in the state of Bahia (BA), northeastern Brazil, highlighting the interacting roles...

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Gastrointestinal dysmotility in rett syndrome

Through evidence review and the consensus of an expert panel, we developed recommendations for the clinical management of gastroesophageal reflux disease,...

Research

Defective respiratory tract immune surveillance in asthma : A primary causal factor in disease onset and progression

The relative importance of respiratory viral infections vs inhalant allergy in asthma pathogenesis is the subject of ongoing debate.

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Rhinovirus exacerbates house-dust-mite induced lung disease in adult mice

In this study, we combined human-rhinovirus infection with a clinically relevant mouse model of aero-allergen exposure using house-dust-mite in an attempt to...

Research

Comparative drug screening in NUT midline carcinoma

The NUT midline carcinoma (NMC) is a rare but fatal cancer for which systematic testing of therapy options has never been performed.