jmg.bmj9d
Classification of PTEN germline non-truncating variants: a new approach to interpretation
Background PTEN hamartoma tumour syndrome (PHTS) encompasses distinct syndromes, including Cowden syndrome resulting from PTEN pathogenic variants. Missense variants account for 30% of PHTS cases, but ...
jmg.bmj23h
Comparison of X-chromosome inactivation patterns in multiple tissues from human females
Section of Medical Genetics and Molecular Medicine, Children’s Mercy Hospitals and Clinics and University of Missouri - Kansas City School of Medicine, Kansas City, Missouri, USA Dr M G Butler, ...
jmg.bmj2d
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.bmj7d
Online First
Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome ...
jmg.bmj2d
Identification of three novel frameshift mutations in patients with Friedreich's ataxia
*Hereditary Ataxia Research Group, Department of Molecular Genetics, Division of Biomedical Sciences, Sir Alexander Fleming Building, Imperial College School of Science Technology and Medicine, ...
jmg.bmj6d
Neuroferritinopathy in a French family with late onset dominant dystonia
1 Department of Neurology, The University of Newcastle upon Tyne, UK 2 Institute of Human Genetics, The University of Newcastle upon Tyne, UK 3 Department of Radiology, Newcastle upon Tyne Hospitals ...
jmg.bmj11d
Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting
Background Monogenic hypertension describe a series of hypertensive syndromes that are inherited by Mendelian laws. Sometimes genetic testing is required to provide evidence for their diagnoses, ...
jmg.bmj7d
Consanguinity among the Saudi Arabian population.
This study was conducted on 3212 Saudi families to investigate the prevalence of consanguineous marriages. The families were interviewed and the information on the relationship between the husband and ...
jmg.bmj10d
The genetics of inherited macular dystrophies
Correspondence to: Professor Moore Institute of Ophthalmology, University College London, 11–43 Bath Street, London EC1V 9EL, UK; tony.moore{at}ucl.ac.uk The inherited macular dystrophies comprise a ...
jmg.bmj6d
Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension
Correspondence to: Dr William C Nichols Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, 1469 TCHRF, Cincinnati, OH 45229, USA; bill.nicholscchmc.org ...
jmg.bmj6d
Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathy
1 Department of Neurology, Kumamoto University School of Medicine, Kumamoto, Japan 2 Department of Laboratory Medicine, Kumamoto University School of Medicine, Kumamoto, Japan ...
jmg.bmj9d
Cytogenetic and molecular studies of trisomy 13.
Chromosome heteromorphisms, restriction fragment length polymorphisms, or both were used to study the parental origin of 33 cases of simple trisomy 13 and eight cases of translocation trisomy 13. The ...