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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 This review is based on the unpublished and detailed clinical, radiological, and molecular findings in 14 CED ...
jmg.bmj5d
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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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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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 ...
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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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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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Genetics of club foot in Maori and Pacific people
The role of major gene and multifactorial inheritance in the aetiology of club foot in the New Zealand Polynesian population was studied using 287 New Zealand Maori and Pacific club foot families. The ...
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A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
Background: Ectodermal dysplasias are developmental disorders affecting tissues of ectodermal origin. To date, four different types of ectodermal dysplasia involving only hair and nails have been ...
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Shorter telomere length is associated with increased ovarian cancer risk in both familial and sporadic cases
10 Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK Correspondence to Dr Beatriz Martinez-Delgado, Human Genetics Group, Spanish National Cancer Research Centre ...
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One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene
Correspondence to Dr Florentia Fostira, Molecular Diagnostics Laboratory, National Centre for Scientific Research NCSR Demokritos, Athens 15310, Greece; florentia_fostira{at}hotmail.com Background ...