- Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy.
- Ding J1, Zhao D2, Du R3, Zhang Y1, Yang H1, Liu J1, Yan C2, Zhang F3, Xiong H4.
- Brain & development.Brain Dev.2016 Feb;38(2):242-9. doi: 10.1016/j.braindev.2015.08.005. Epub 2015 Aug 21.
- PURPOSE: LAMA2-related muscular dystrophy (LAMA2 MD) is an autosomal recessive inherited disease caused by LAMA2 gene mutation. The spectrum of the phenotype is expanding in recent years partially due to the definitive diagnosis of molecular genetics. We investigated the phenotype and genotype in a
- PMID 26304763
- Congenital Corneal Endothelial Dystrophies Resulting From Novel De Novo Mutations.
- Cunnusamy K1, Bowman CB, Beebe W, Gong X, Hogan RN, Mootha VV.
- Cornea.Cornea.2016 Feb;35(2):281-5. doi: 10.1097/ICO.0000000000000670.
- PURPOSE: To describe 2 cases of congenital corneal endothelial edema resulting from novel de novo mutations.METHODS: Case A patient was a 15-month-old white child and case B patient was a 3-year-old Hispanic child presenting with bilateral cloudy corneas since birth. Clinicopathologic findings are p
- PMID 26619383
- Germline BRCA testing is moving from cancer risk assessment to a predictive biomarker for targeting cancer therapeutics.
- Moreno L1, Linossi C1, Esteban I1, Gadea N1, Carrasco E1, Bonache S2, Gutiérrez-Enríquez S2, Cruz C1, Díez O2,3, Balmaña J4.
- Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico.Clin Transl Oncol.2016 Jan 7. [Epub ahead of print]
- PURPOSE: Originally, BRCA testing was used for risk assessment and prevention strategies for breast and ovarian cancer. Nowadays, BRCA status may influence therapeutic decision making at cancer diagnosis. Our objective was to analyze whether the medical advances have changed the burden and pattern o
- PMID 26742938
- 1. Acta Psychiatr Scand. 1988 May;77(5):511-4. The proband method in psychiatric epidemiology: a bias associated with differences in family size. Kendler KS, Eaton WW. Department of Psychiatry, Medical College of Virginia ...
- A method in human genetics for comparing the proportion in families of children in which a proband shows a specific trait with the proportion expected if the trait were inherited as a single gene. For example, if one considers a group of ...
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