jmg.bmj20h
Identification of candidate lung cancer susceptibility genes in mouse using oligonucleotide arrays
1 Division of Human Cancer Genetics, The Ohio State University Comprehensive Cancer Center, 420 West 12th Avenue, Columbus, Ohio 43210, USA 2 School of Public Health, The Ohio State University ...
jmg.bmj2d
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain
Background Congenital insensitivity to pain (CIP) is a rare extreme phenotype characterised by an inability to perceive pain present from birth due to lack of, or malfunction of, nociceptors. PRDM12 ...
jmg.bmj4d
Axenfeld-Rieger syndrome: more than meets the eye
Background Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes with ...
jmg.bmj9d
Mutation in TDRD9 causes non-obstructive azoospermia in infertile men
Background Azoospermia is diagnosed when sperm cells are completely absent in the ejaculate even after centrifugation. It is identified in approximately 1% of all men and in 10%–20% of infertile males ...
jmg.bmj10d
Enhancing variant of uncertain significance (VUS) interpretation in neurogenetics: collaborative experiences from a tertiary care centre
Background The findings of variants of uncertain significance (VUS) on a clinical genetic testing report pose a challenge for attending healthcare professionals (HCPs) in patient care. Here, we ...
jmg.bmj1d
A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents
Center of Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria Dr K Szuhai, Department of Molecular Cell Biology, zone S-1-P, Leiden University Medical Center, PO Box 9600, 2300 RC ...
jmg.bmj10d
Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research
12 Cancer Research UK Familial Gastric Cancer Study, University Department of Oncology, Addenbrooke's Hospital, Cambridge, UK 13 Cancer Research UK Cambridge Research Institute and Department of ...
jmg.bmj9d
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2
Background Schaaf-Yang syndrome (SYS) is caused by truncating mutations in MAGEL2, mapping to the Prader-Willi region (15q11-q13), with an observed phenotype partially overlapping that of Prader-Willi ...
jmg.bmj8d
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
1 Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia 2 Department of Pediatrics, King Khalid University Hospital, College of Medicine, King Saud ...
jmg.bmj1d
Genotype–phenotype correlations in Peutz-Jeghers syndrome
5 Institute of Gastroenterology, Sheba Medical Center, Tel-Hashomer, 52621, Israel 6 The Susanne Levy Gerner Oncogenetics Unit, Sheba Medical Center, Tel-Hashomer, 52621, Israel Correspondence to: C ...
jmg.bmj2d
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, IFREM, Institut Necker, Hôpital des Enfants-Malades, Paris, France. Spinal muscular atrophy (SMA) is characterised by ...
jmg.bmj8d
Targeting lung cancer screening to individuals at greatest risk: the role of genetic factors
Correspondence to Dr Philip A J Crosbie, Manchester Thoracic Oncology Centre, North West Lung Centre, Manchester University NHS Foundation Trust, Wythenshawe M23 9LT, UK; ...