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jmg.bmj23ता
Journal of Medical Genetics
September 2024 marks an exciting and important milestone for Journal of Medical Genetics as we celebrate 60 years of publishing!Over the past 6 decades, we have established ourselves as a trusted ...
jmg.bmj2दि
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
1 Institut National de la Santé et de la Recherche Médicale (INSERM) UMR_S933, Université Pierre et Marie Curie (UPMC) - Paris 6; and Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital ...
jmg.bmj2दि
Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant
Background The mitochondrial DNA (mDNA) 3243A>G variant is the most common pathogenic variant of the mDNA. To interpret results of clinical trials in mitochondrial disease, it is important to have a ...
jmg.bmj16दि
Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)
17 Department of Digestive Surgery, Hospital Saint-Antoine, University Pierre et Marie, Paris, France 18 Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland Lynch syndrome ...
jmg.bmj8दि
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 ...
jmg.bmj5दि
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
1 Division of Respirology, Department of Medicine, St Michael's Hospital, University of Toronto, Toronto, Ontario, Canada 2 Li Ka Shing Knowledge Institute, St Michael's Hospital, University of ...
jmg.bmj3वर्ष
Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives
Background We estimated the cost-effectiveness of universal DNA screening for Lynch syndrome (LS) among newly diagnosed patients with colorectal cancer (CRC) followed by cascade screening of relatives ...
jmg.bmj1दि
Genetics of Parkinson’s disease and related disorders
Correspondence to Dr Pei-Lan Zhang, Department of Neurology, Tianjin Huanhu Hospital, Jinnanqu, Tianjin 300350, P.R. China; peilanzhng{at}sina.com and Dr Pedro Fernandez-Funez, Department of ...
jmg.bmj6वर्ष
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment
Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. This review is based on the unpublished and detailed clinical, radiological, and molecular findings in 14 CED ...
jmg.bmj4दि
Emerging roles of rare and low-frequency genetic variants in type 1 diabetes mellitus
Correspondence to Professor Zhiguang Zhou, Department of Metabolism and Endocrinology, Second Xiangya Hospital, Changsha 410011, China; zhouzhiguang{at}csu.edu.cn; Professor Zhiguo Xie, Department of ...
jmg.bmj1वर्ष
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
35 Unit of Molecular Diagnostics and Clinical Genetics, Hospital Universitari Son Espases, Health Research Institute of the Balearic Islands (IdISBa), Palma, Spain This is an open access article ...
jmg.bmj4सोम
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
Correspondence to Professor Tomoki Kosho, Department of Medical Genetics, Shinshu University Graduate School of Medicine School of Medicine, Matsumoto 390-8621, Japan; ktomoki{at}shinshu-u.ac.jp ...