✦ LIBER ✦

Analysis of TSC2 stop codon variants found in tuberous sclerosis patients

✍ Scribed by Goedbloed, Miriam A; Nellist, Mark; Verhaaf, Brenda; Reuser, Arnold J J; Lindhout, Dick; Sunde, Lone; Verhoef, Senno; Halley, Dicky J J; van den Ouweland, Ans M W

Book ID: 110025203
Publisher: Nature Publishing Group
Year: 2001
Tongue: English
Weight: 166 KB
Volume: 9
Category: Article
ISSN: 1018-4813
DOI: 10.1038/sj.ejhg.5200728

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Co-Localization of TSC1 and TSC2 Gene Pr

Co-Localization of TSC1 and TSC2 Gene Products in Tubers of Patients with Tuberous Sclerosis

✍ Michael W. Johnson; Jessica K. Emelin; Sung-Hye Park; Harry v. Vinters 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 190 KB

Analysis of both TSC1 and TSC2 for germl

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis

✍ Yo Niida; Nicole Lawrence-Smith; Ashleigh Banwell; Erica Hammer; Janine Lewis; R 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 339 KB 👁 2 views

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of multiple hamartomas involving many organs. About two-thirds of the cases are sporadic and appear to represent new mutations. With the cloning of two causative genes, TSC1 and TSC2 it is now possibl

Mutation and polymorphism analysis of TS

Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex

✍ M. Ali; S. C. Girimaji; M. Markandaya; A. K. Shukla; S. Sacchidanand; A. Kumar 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 236 KB

Functional assessment of variants in the

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex

✍ Marianne Hoogeveen-Westerveld; Marjolein Wentink; Diana van den Heuvel; Melika M 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 370 KB

The effects of missense changes and small in-frame deletions and insertions on protein function are not easy to predict, and the identification of such variants in individuals at risk of a genetic disease can complicate genetic counselling. One option is to perform functional tests to assess whether

Sacrococcygeal chordomas in patients wit

Sacrococcygeal chordomas in patients with tuberous sclerosis complex show somatic loss of TSC1 or TSC2

✍ Lisa Lee-Jones; Irene Aligianis; Peter A. Davies; Ana Puga; Peter A. Farndon; An 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 303 KB

Chordomas are rare sacrococcygeal/sacral, sphenooccipital/clivus, and spinal tumors whose molecular etiology remains relatively understudied. As several anecdotal reports had described chordomas in individuals with tuberous sclerosis complex (TSC), a multisystem hamartoma syndrome, we hypothesized t

Analysis of 65 tuberous sclerosis comple

Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations

✍ Nanna D. Rendtorff; Bolette Bjerregaard; Morten Frödin; Susanne Kjaergaard; Hann 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 292 KB

Tuberous sclerosis complex (TSC) is a severe autosomal-dominant disorder characterized by the development of benign tumors (hamartomas) in many organs. It can lead to intellectual handicap, epilepsy, autism, and renal or heart failure. An inactivating mutation in either of two tumor-suppressor genes