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Limitations of genomics to predict and treat autism: a disorder born in the womb
Brain development involves the sequential expression of vulnerable biological processes including cell proliferation, programmed cell death, neuronal migration, synapse and functional unit formation.
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Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment
Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. This review is based on the unpublished and detailed clinical, radiological, and molecular findings in 14 CED ...
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Cleidocranial dysplasia: clinical and molecular genetics
Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a ...
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Use of zebrafish models to investigate rare human disease
Rare diseases are collectively common and often extremely debilitating. Following the emergence of next-generation sequencing (NGS) technologies, the variants underpinning rare genetic disorders are ...
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Defective NDUFA9 as a novel cause of neonatally fatal complex I disease
1 Department of Clinical Genetics, Unit Clinical Genomics, Maastricht University Medical Centre, Maastricht, The Netherlands 2 School for Oncology and Developmental Biology, Maastricht University ...
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A genome-wide association study of serum levels of prostate-specific antigen in the Japanese population
1 Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan 2 Department of Urology, Kyoto University Graduate School of Medicine, Kyoto, Japan 3 Department of Preventive ...
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Psychological studies in Huntington's disease: making up the balance
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be ...
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Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases
1 Academic Unit of Human Development and Health, Human Genetics and Genomics Medicine group, Faculty of Medicine, University of Southampton, Southampton, UK 2 Wessex Clinical Genetics Service, ...
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Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease
Professor R C Trembath, Division of Genetics and Molecular Medicine, King’s College School of Medicine, 9th Floor Guy’s Tower, Guy’s Hospital, SE1 9RT London, UK; ...
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Human transgenerational responses to early-life experience: potential impact on development, health and biomedical research
Mammalian experiments provide clear evidence of male line transgenerational effects on health and development from paternal or ancestral early-life exposures such as diet or stress. The few human ...
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Genetic architectures of ADME genes in five Eurasian admixed populations and implications for drug safety and efficacy
Correspondence to Professor Shuhua Xu, Max Planck Independent Research Group on Population Genomics, Chinese Academy of Sciences and Max Planck Society (CAS-MPG) Partner Institute for Computational ...