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Kuliev A, Cieslak J, Ilkevitch Y, Verlinsky Y. Nuclear abnormalities in series of 6733 human ocytes. Reprod. Biomed. Online 6, 54-59 (2003). Direct testing of the outcome of meiosis I and II through fluorescence in situ hybridization analysis of polar body (PB)1 and PB2 in the largest series of human oocytes, demonstrating comparable error rates in the first and second meiotic divisions, types of errors and chromosome-specific pattern of errors in the first and second meiotic divisions.
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Verlinsky Y, Rechitsky S, Verlinsky O, Masciangelo C, Lederer K, Kuliev A. Preimplantation diagnosis for early onset Alzheimer's disease caused by V717L mutation. JAMA 287, 1018-1021 (2002). Presentation of the first PGD for Alzheimer's disease (AD), performed for a 30-year-old woman with genetic predisposition to AD but no signs of the disease carrying the V717L mutation in the amyloid precursor protein gene, resulting in birth of a healthy child free from genetic predisposition to AD.
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Verlinsky Y, Rechitsky S, Ozen S, Masciangelo C, Ayers J, Kuliev A. Preimplantation diagnosis for Kell genotype. Fertil Steril. 80, 1047-1051 (2003).
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Verlinsky Y, Rechitsky S, Schoolcraft W, Kuliev A. Preimplantation diagnosis for homeobox gene HLXB9 mutation causing currarino syndrome. Am. J. Med. Genet. A 134(1), 103-104 (2005).
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Verlinsky Y, Rechitsky S, Schoolcraft W, Strom C, Kuliev A. Preimplantation diagnosis for Fanconi anemia combined with HLA matching. JAMA 285, 3130-3133 (2001). Report of the world's first case of preimplantation human leukocyte antigen (HLA) typing, which was performed in combination with testing for Fanconi anemia, resulting in the birth of unaffected child. The child's cord blood was collected and transplanted to the affected sibling, resulting in a complete cure.
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Rechitsky S, Kuliev A, Tur-Kaspa I, Morris R, Verlinsky Y. Preimplantation HLA typing with preimplantation genetic diagnosis. Reprod. Biomed. Online 6, 488-493 (2004). Presentation of the largest series of PGD combined with HLA typing, demonstrating high accuracy and practical relevance of the procedure.
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Verlinsky Y, Rechitsky S, Sharapova T, Morris R, Taranissi M, Kuliev A. Preimplantation HLA typing. JAMA 291, 2079-2085 (2004). First report of preimplantation HLA typing as a primary indication, without involving the actual PGD for a specific genetic disease, resulting in birth of HLA-matched babies. One sibling with Diamond-Blackfan anemia received the first transplantation of stem cells and was no longer red blood cell transfusion dependent.
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JAMA
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Kuliev A, Verlinsky Y. Preimplantation HLA typing for stem cell transplantation. Reprod. Biomed. Online 6, 488-493 (2004).
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Reprod. Biomed. Online
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