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References 1.Bonadona V, BonaÏti B, Olschwang S, French Cancer Genetics Network et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA 2011: 305 (22): 2304–2310. 2.Lynch HT, Lynch JF, Lynch PM, Attard T. Hereditary colorectal cancer...
Saitsu H, Hoshino H, Kato M, Nishiyama K, Okada I, Yoneda Y, Tsurusaki Y, Doi H, Miyake N, Kubota M, Hayasaka K, Matsumoto N. Paternal mosaicism of an STXBP1 mutation in OS. Ohtahara syndrome (OS) is one of the most severe and earliest forms of epilepsy. We have recently identified that the de...
Esplen MJ, Stuckless N, Gallinger S, Aronson M, Rothenmund H, Semotiuk K, Stokes J, Way C, Green J, Butler K, Petersen HV, Wong J. Development and validation of an instrument to measure the impact of genetic testing on self‐concept in Lynch syndrome. A positive genetic test result may impact on...
References 1.Galvin JE, Lee VM, Trojanowski JQ. Synucleinopathies: clinical and pathological implications. Arch Neurol 2001: 58 (2): 186–190. 2.Mazzulli JR, Xu YH, Sun Y et al. Gaucher disease glucocerebrosidase and α‐synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell...
Maselli RA, Arredondo J, Cagney O, Mozaffar T, Skinner S, Yousif S, Davis RR, Gregg JP, Sivak M, Konia TH, Thomas K, Wollmann RL. Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE. Mutations in the plectin gene (PLEC1) cause...
Kloska A, Jakóbkiewicz‐Banecka J, Tylki‐Szymańska A, Czartoryska B, Węgrzyn G. Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X‐linked disorders. Familial X‐chromosome inactivation (XCI) skewing was investigated in a family in which...
Carter MT, Nikkel SM, Fernandez BA, Marshall CR, Noor A, Lionel AC, Prasad A, Pinto D, Joseph‐George AM, Noakes C, Fairbrother‐Davies C, Roberts W, Vincent J, Weksberg R, Scherer SW. Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum...
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