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Page 1
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.
Sohocki MM, Daiger SP, Bowne SJ, Rodriquez JA, Northrup H, Heckenlively JR, Birch DG, Mintz-Hittner H, Ruiz RS, Lewis RA, Saperstein DA, Sullivan LS. Sohocki MM, et al. Among authors: northrup h. Hum Mutat. 2001;17(1):42-51. doi: 10.1002/1098-1004(2001)17:1<42::AID-HUMU5>3.0.CO;2-K. Hum Mutat. 2001. PMID: 11139241 Free PMC article.
Variability of expression in tuberous sclerosis.
Northrup H, Wheless JW, Bertin TK, Lewis RA. Northrup H, et al. J Med Genet. 1993 Jan;30(1):41-3. doi: 10.1136/jmg.30.1.41. J Med Genet. 1993. PMID: 8423606 Free PMC article.
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Lewis RA, Garcia CA, Ruiz RS, Blanton SH, Northrup H, Gire AI, Seaman R, Duzkale H, Spellicy CJ, Zhu J, Shankar SP, Daiger SP. Sullivan LS, et al. Among authors: northrup h. Invest Ophthalmol Vis Sci. 2006 Jul;47(7):3052-64. doi: 10.1167/iovs.05-1443. Invest Ophthalmol Vis Sci. 2006. PMID: 16799052 Free PMC article.
A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.
Sullivan LS, Bowne SJ, Koboldt DC, Cadena EL, Heckenlively JR, Branham KE, Wheaton DH, Jones KD, Ruiz RS, Pennesi ME, Yang P, Davis-Boozer D, Northrup H, Gurevich VV, Chen R, Xu M, Li Y, Birch DG, Daiger SP. Sullivan LS, et al. Among authors: northrup h. Invest Ophthalmol Vis Sci. 2017 May 1;58(5):2774-2784. doi: 10.1167/iovs.16-21341. Invest Ophthalmol Vis Sci. 2017. PMID: 28549094 Free PMC article.
Linkage of tuberous sclerosis to ABO blood group.
Northrup H, Beaudet AL, O'Brien WE, Herman GE, Lewis RA, Pollack MS. Northrup H, et al. Lancet. 1987 Oct 3;2(8562):804-5. doi: 10.1016/s0140-6736(87)92543-8. Lancet. 1987. PMID: 2889024 No abstract available.
200 results