jmg.bmj3d
Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study
Background For female patients with Lynch syndrome (LS), endometrial cancer (EC) is often their first cancer diagnosis. A ...
jmg.bmj10h
Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations
Background Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes and enteropathy (MIRAGE) syndrome is a recently described congenital disorder caused by heterozygous ...
jmg.bmj3d
Online First
Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome ...
jmg.bmj10d
Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study
Background Silver-Russell syndrome (SRS) is an imprinting disorder characterised by prenatal and postnatal growth restriction, but its clinical features are non-specific and its differential diagnosis ...
jmg.bmj13d
Evaluation of polygenic risk scores for ovarian cancer risk prediction in a prospective cohort study
Background Genome-wide association studies have identified >30 common SNPs associated with epithelial ovarian cancer (EOC). We evaluated the combined effects of EOC susceptibility SNPs on predicting ...
jmg.bmj1d
The face of Smith-Magenis syndrome: a subjective and objective study
We report a study of 55 subjects with Smith-Magenis syndrome, aged 9 months to 35 years. Each person has been evaluated with an assessment of “gestalt” and detailed facial measurement, using ...
jmg.bmj11d
A case of de novo interstitial deletion 3q.
A rare chromosome abnormality consisting of interstitial deletion 3q was found in a malformed girl. Chromosome analysis using G and Q banding showed deletion of bands 3q12----3q21: 46,XX,del(3)(pter-- ...
jmg.bmj8d
Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease
Drug Research and Medical Biotechnology, Fraunhofer Institute of Toxicology and Experimental Medicine, Nikolai-Fuchs-Strasse 1, D-30625 Hanover, Germany Correspondence to: J Borlak Drug Research and ...
jmg.bmj12d
Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?
Department of Pathology, Keio University School of Medicine, Tokyo, Japan. The WT1 gene, one of the genes responsible for Wilms tumour, is thought to play a crucial role in the development of the ...
jmg.bmj12d
Nail patella syndrome: a review of the phenotype aided by developmental biology
1 Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children’s Hospital, Alder Hey, Eaton Road, Liverpool L12 2AP, UK 2 Merseyside and Cheshire Molecular Genetics Laboratory, ...
jmg.bmj12d
Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC)
Correspondence to Dr Udo Rudloff, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA; rudloffu{at}mail.nih.gov Introduction Hereditary diffuse gastric cancer (HDGC) is a ...
jmg.bmj8d
A clinical study of patients with multiple isolated neurofibromas
aGenetics and Teratology Unit, Massachusetts General Hospital, Boston, MA, USA, bDepartments of Pathology and Neurosurgery, Massachusetts General Hospital, Boston, MA ...