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Successful preimplantation genetic diagn

Successful preimplantation genetic diagnosis for sex linked Lesch–Nyhan syndrome using specific diagnosis

✍ Pierre F. Ray; Joyce C. Harper; Asangla Ao; Deborah M. Taylor; Robert M. L. Wins 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 89 KB 👁 2 views

Lesch-Nyhan syndrome (LN) is a severe X-linked recessive disorder caused by a deficiency of the enzyme hypoxanthine phosphoribosyl transferase (HPRT). Clinical features displayed by affected boys are particularly severe and disturbing and include hyperuricaemia, characteristic neurological features

Skewed X-inactivation in carriers establ

Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome (Am J Med Genet 131A: 209–212)

✍ Frank J. Probst; Peter Hedera; Anthony M. Sclafani; Maria Grazia Pomponi; Giovan 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB 👁 2 views

Rett syndrome: Lack of association with

Rett syndrome: Lack of association with fragile site Xp22 and strategy for genetic mapping of X-linked new mutations

✍ Romeo, Giovanni ;Archidiacono, Nicoletta ;Ferlini, Alessandra ;Rocchi, Mariano ; 📂 Article 📅 1986 🏛 John Wiley and Sons 🌐 English ⚖ 253 KB 👁 3 views

First-ever genetic link for Perrault syndrome established