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The Smith-Lemli-Opitz syndrome
The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and ...
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Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer ...
Dr Wallis, Department of Regional Genetics, Birmingham Women’s Hospital, Edgbaston, Birmingham B15 2TG, UK. BACKGROUND/AIMS The development of colorectal cancer and a variable range of extracolonic ...
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Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants
Correspondence to Mr Thomas P Potjer, Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands; T.P.Potjer{at}lumc.nl Background Pathogenic variants in the CDKN2A ...
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Mitochondrial DNA polymerase γ mutations: an ever expanding molecular and clinical spectrum
Correspondence to Lee-Jun C Wong, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA; ljwong{at}bcm.edu Mitochondria are the ...
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The human Y chromosome.
Despite its central role in sex determination, genetic analysis of the Y chromosome has been slow. This poor progress has been due to the paucity of available genetic markers. Whereas the X chromosome ...
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Cancer immunotherapy: challenges and clinical applications
Correspondence to Dr Xiao-Jie Lu, Department of General Surgery, Liver Transplantation Center, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China; 189{at}whu.edu.cn ...
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Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.
Abstract We report a 16 year old boy with the abnormal karyotype 46,XY,del(2)(q32.2q33.1) who has mental retardation, microcephaly, epilepsy, craniofacial dysmorphism, distinctive scalloped skin ...
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Prenatal diagnosis of the common haemoglobin disorders.
New techniques of DNA analysis have been applied to the prenatal diagnosis of the common haemoglobin disorders. Currently, it is possible to provide a comprehensive programme for the prevention of ...
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Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy
Correspondence to: Dr P Carmeliet Centre for Transgene Technology and Gene Therapy, Flanders Interuniversitary Institute for Biotechnology, KULeuven, Campus ...
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Calibration of polygenic risk scores is required prior to clinical implementation: results of three common cancers in UKB
Correspondence to Dr Jianfeng Xu, Program for Personalized Cancer Care, NorthShore University HealthSystem, Evanston, IL 60201, USA; jxu{at}northshore.org Objectives We assessed the reliability of ...
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Multiregion whole-genome sequencing depicts intratumour heterogeneity and punctuated evolution in ovarian clear cell carcinoma
Background Ovarian clear cell carcinoma (OCCC) arises from endometriosis and represents a difficult-to-treat gynaecological malignancy, in part, because its spatial intratumour heterogeneity and ...
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A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres
3 Department of Neurosciences, S Antonio University Hospital, Padova, Italy 4 Department of Anaesthesia, S Antonio University Hospital, Padova, Italy Correspondence to: Professor V Sorrentino ...