- ►bmj.com C Bovie, ST Holden, A Schroer, E Smith, D … - British Medical Journal, 2003 - jmg.bmj.com A 26 year old woman presented at hospital with acute abdominal pain. She was
mentally handicapped since birth but was otherwise fit and well, living in a
residential home with an excellent quality of life. Her speech and language ... Cited by 3 - Related articles - BL Direct - All 6 versions
AJ Richards, M Laidlaw, SP Meredith, P … - Human mutation, 2007 - interscience.wiley.com Stickler syndrome due to mutations in COL2A1 is usually the result of premature
termination codons and nonsense mediated decay resulting in haploinsufficiency
of type II collagen. Here we present two missense mutations and one ... Cited by 5 - Related articles - BL Direct - All 3 versions
RE Williamson, KN Darrow, S Michaud, JS … - American journal of medical genetics. Part A, 2007 - bwhpathology.org Robin E. Williamson,1 Keith N. Darrow,3 Sebastien Michaud,4 Julie S. Jacobs,5
Marilyn C. Jones,6 Daniel F. Eberl,5 Richard L. Maas,4 M. Charles Liberman,3 and
Cynthia C. Morton2* 1Department of Genetics, Harvard Medical School, ... Cited by 8 - Related articles - View as HTML - BL Direct - All 6 versions
- ►nih.gov [PDF] C Jones, C Booth, D Rita, L Jazmines, B … - The American Journal of Human Genetics, 1997 - Elsevier D Ejima, M Sasaki, K Adihro, T Hiroshi, H Yutaka, T Hida and K Kinoshiro,
Possible inactivation of part of chromosome 13 due to 13qXp translocation
associated with retinoblastoma, Clin Genet 21 (1982), pp. 357–361. Cited by 14 - Related articles - BL Direct - All 6 versions
D Stambolian, B Sellinger, D Derrington, R … - Am J Med Genet, 1992 - interscience.wiley.com We report on a 4-year-old girl with retinoblastoma and de novo balanced
translocation [46,X,t (X;13) (q23;q13)]. Unilateral retinoblastoma was
discovered at age 9 months along with developmental delay and several ... Cited by 3 - Related articles - All 3 versions
