Clinical and Experimental Reproductive Medicine

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Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K)

Kyung Eui Park, Sung Ah Kim, Moon Joo Kang, Hee Sun Kim, Sung Im Cho, Kyoung Won Yoo, So Yeon Kim, Hye Jun Lee, Sun Kyung Oh, Moon-Woo Seong, Seung-Yup Ku, Jong Kwan Jun, Sung Sup Park, Young Min Choi, Shin Yong Moon

Clin Exp Reprod Med. 2013;40(1):42-46. Published online March 31, 2013
DOI: https://doi.org/10.5653/cerm.2013.40.1.42

Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due toFGFR3mutation (c.1620C>A, p.N540K)

Clinical and Experimental Reproductive Medicine. 2013;40(1):42

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Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient

Katja Dumic, Ingeborg Barisic, Kristina Potocki, Ivona Sansovic

Journal of Applied Genetics. 2011;52(2):209-212

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Preimplantation genetic diagnosis for monogenic disorders: multiplex PCR and whole-genome amplification for gene analysis at the single cell level

Karen Sermon

Preimplantation Genetic Diagnosis. 2009;237-246

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Neuroimaging and neurological findings in patients with hypochondroplasia andFGFR3N540K mutation

Tarja Linnankivi, Outi Mäkitie, Leena Valanne, Sanna Toiviainen-Salo

American Journal of Medical Genetics Part A. 2012;158A(12):3119-3125

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Reliability of the single cell PCR for the successful preimplantation genetic diagnosis of single gene disorders

Hye Won Choi, Hyoung-Song Lee, Chun Kyu Lim, Dong Mi Min, Inn Soo Kang, Jin Hyun Jun

Fertility and Sterility. 2003;80:200

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Identification of a common N540K mutation in 8/18 Taiwanese hypochondroplasia patients: further evidence for genetic heterogeneity

Fuu-Jen Tsai, Jer-Yuarn Wu, Chang-Hai Tsai, Jang-Gowth Chang

Clinical Genetics. 1999;55(4):279-280

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Preimplantation genetic diagnosis for BRCA1 exon 13 duplication mutation using linked polymorphic markers resulting in a live birth

Melinda J. Jasper, Jan Liebelt, Nicole D. Hussey

Prenatal Diagnosis. 2008;28(4):292-298

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Single-cell sequencing and mini-sequencing for preimplantation genetic diagnosis

Mercedes G. Bermudez, Wirawit Piyamongkol, Susana Tomaz, Evelyn Dudman, Jon K. Sherlock, Dagan Wells

Prenatal Diagnosis. 2003;23(8):669-677

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Abstract #123: Preimplantation Genetic Diagnosis for a Single Gene Mutation for Succinate Dehydrogenase Subunit B (The Genetic Basis for Malignant Paraganglioma) with Successful Pregnancy

Jerome Check, Donna Summers, Danya Horwath, Jung Choe

Endocrine Practice. 2015;21:13

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The first successful live birth following preimplantation genetic diagnosis using PCR for type 1 citrullinemia

Jae-Hyun Cho, Chung-Hoon Kim, Kyung-Hee Lee, Il-Kyung Jeon, Jae-Min Kim, Byung-Moon Kang

Obstetrics & Gynecology Science. 2014;57(3):244

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