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Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists

Purpose and scope The aim of this position statement is to provide recommendations aimed at Canadian reproductive care clinicians and genetics professionals regarding the use of reproductive carrier ...
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Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation

2 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada 3 Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, ...
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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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Epigenotype–phenotype correlations in Silver–Russell syndrome

3 Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands 4 Centre for Rare Diseases and Personalised Medicine and School of Clinical and Experimental Medicine, College of ...
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Paternal contribution to the risk for pre-eclampsia

1 Department of Obstetrics and Gynaecology, University Medical Centre, Nijmegen, The Netherlands 2 Department of Gastroenterology, University Medical Centre, Nijmegen, The Netherlands 3 Department of ...
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CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy

2 The National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer Sheva, Israel Correspondence to Professor Ruti Parvari, Department of Microbiology, Immunology and ...
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A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot

Background Germline genetic testing affords multiple opportunities for women with breast cancer, however, current UK NHS models for delivery of germline genetic testing are clinician-intensive and ...
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New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction.
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Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia

Correspondence to: Professor Richard C Trembath Division of Medical Genetics, Adrian Building, University of Leicester, University Road, Leicester LE1 7RH, UK; rtrembathgmp.mrc.ac.uk BMPR-II, endoglin ...
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Online First

Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists ...
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Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus

Purpose: To determine a gene locus for a family with a dominantly inherited vestibulocerebellar disorder characterised by early onset, but not congenital nystagmus. Design: Observational and ...
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Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)

Correspondence to Professor Dr HFA Vasen, Department of Gastroenterology & Hepatology, Leiden University Medical Centre, Rijnsburgerweg 10, Leiden 2333 AA, The Netherlands; hfavasen{at}stoet.nl BTs ...