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Rare Diseases

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Last Posted: Jul 31, 2019

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• Is Molecular Diagnosis Necessary for Children with Duchenne Muscular Dystrophy? 
  Puri Ratna Dua et al. Indian pediatrics 2019 Jul 56(7) 549-550
• Update in Duchenne and Becker muscular dystrophy.  
  Waldrop Megan A et al. Current opinion in neurology 2019 Jul
• Update on amyotrophic lateral sclerosis genetics.  
  Brenner David et al. Current opinion in neurology 2019 Jul
• Advances In Gene Therapy For Cystic Fibrosis Lung Disease.  
  Yan Ziying et al. Human molecular genetics 2019 Jul
• Co-Expression Network Analysis Identified Gene Signatures in Osteosarcoma as a Predictive Tool for Lung Metastasis and Survival.  
  Zhang Honghua et al. Journal of Cancer 2019 10(16) 3706-3716
• Hereditary ovarian cancers: state of the art.  
  Toss Angela et al. Minerva medica 2019 Aug 110(4) 301-319
• Long Non-coding RNAs as Important Biomarkers in Laryngeal Cancer and Other Head and Neck Tumours.  
  Cossu Alessia Maria et al. International journal of molecular sciences 2019 Jul 20(14)
• Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.  
  Butler Merlin G et al. Current pediatric reviews 2019 Jul
• Radiomics analysis for glioma malignancy evaluation using diffusion kurtosis and tensor imaging.  
  Takahashi Satoshi et al. International journal of radiation oncology, biology, physics 2019 Jul
• Screening and surgical prophylaxis for hereditary cancer syndromes with high risk of endometrial and ovarian cancer.  
  Bercow Alexandra S et al. Journal of surgical oncology 2019 Jul
• Simplified Molecular Subtyping of Medulloblastoma for Reduced Cost and Improved Turnaround Time.  
  Shuangshoti Somruetai et al. Applied immunohistochemistry & molecular morphology : AIMM 2019 Jul
• Somatic variants of potential clinical significance in the tumors of BRCA phenocopies.  
  Buckingham Lela et al. Hereditary cancer in clinical practice 2019 1721
• Surveillance after prostate focal therapy.  
  Tay Kae Jack et al. World journal of urology 2019 Mar 37(3) 397-407
• Association of Germline BRCA2 Mutations With the Risk of Pediatric or Adolescent Non-Hodgkin Lymphoma.  
  Wang Zhaoming et al. JAMA oncology 2019 Jul
• Ovarian Cancer Risk Influenced by Vaginal Microbiome?  
  P Harrison, eMdscape, July 2019
• Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.  
  Dominguez-Valentin Mev et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jul
• [Updates and interpretation on NCCN clinical practice guidelines for gastric cancer 2017 version 5].  
  Qiu Haibo et al. Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgery 2018 Feb 21(2) 160-164
• A clinical scoring system for congenital contractural arachnodactyly.  
  Meerschaut Ilse et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jul
• Assessing the effectiveness of the National Comprehensive Cancer Network genetic testing guidelines in identifying African American breast cancer patients with deleterious genetic mutations.  
  Ademuyiwa Foluso O et al. Breast cancer research and treatment 2019 Jul
• Circulating tumor DNA detection is correlated to histologic types in patients with early-stage non-small-cell lung cancer.  
  Zhang Bin et al. Lung cancer (Amsterdam, Netherlands) 2019 Aug 134108-116