Liberfarb R - Search Results

1

Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons.

Wilkin DJ, Liberfarb R, Davis J, Levy HP, Cole WG, Francomano CA, Cohn DH. Wilkin DJ, et al. Among authors: liberfarb r. Am J Med Genet. 2000 Sep 11;94(2):141-8. doi: 10.1002/1096-8628(20000911)94:2<141::aid-ajmg6>3.0.co;2-a. Am J Med Genet. 2000. PMID: 10982970

2

The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.

Liberfarb RM, Levy HP, Rose PS, Wilkin DJ, Davis J, Balog JZ, Griffith AJ, Szymko-Bennett YM, Johnston JJ, Francomano CA, Tsilou E, Rubin BI. Liberfarb RM, et al. Genet Med. 2003 Jan-Feb;5(1):21-7. doi: 10.1097/00125817-200301000-00004. Genet Med. 2003. PMID: 12544472 Free article. Review.

3

Stickler syndrome: clinical characteristics and diagnostic criteria.

Rose PS, Levy HP, Liberfarb RM, Davis J, Szymko-Bennett Y, Rubin BI, Tsilou E, Griffith AJ, Francomano CA. Rose PS, et al. Among authors: liberfarb rm. Am J Med Genet A. 2005 Oct 15;138A(3):199-207. doi: 10.1002/ajmg.a.30955. Am J Med Genet A. 2005. PMID: 16152640

4

The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen.

Francomano CA, Liberfarb RM, Hirose T, Maumenee IH, Streeten EA, Meyers DA, Pyeritz RE. Francomano CA, et al. Among authors: liberfarb rm. Genomics. 1987 Dec;1(4):293-6. doi: 10.1016/0888-7543(87)90027-9. Genomics. 1987. PMID: 2896625

5

The hip in Stickler syndrome.

Rose PS, Ahn NU, Levy HP, Magid D, Davis J, Liberfarb RM, Sponseller PD, Francomano CA. Rose PS, et al. Among authors: liberfarb rm. J Pediatr Orthop. 2001 Sep-Oct;21(5):657-63. J Pediatr Orthop. 2001. PMID: 11521037

6

Thoracolumbar spinal abnormalities in Stickler syndrome.

Rose PS, Ahn NU, Levy HP, Ahn UM, Davis J, Liberfarb RM, Nallamshetty L, Sponseller PD, Francomano CA. Rose PS, et al. Among authors: liberfarb rm. Spine (Phila Pa 1976). 2001 Feb 15;26(4):403-9. doi: 10.1097/00007632-200102150-00017. Spine (Phila Pa 1976). 2001. PMID: 11224888

7

Auditory dysfunction in Stickler syndrome.

Szymko-Bennett YM, Mastroianni MA, Shotland LI, Davis J, Ondrey FG, Balog JZ, Rudy SF, McCullagh L, Levy HP, Liberfarb RM, Francomano CA, Griffith AJ. Szymko-Bennett YM, et al. Among authors: liberfarb rm. Arch Otolaryngol Head Neck Surg. 2001 Sep;127(9):1061-8. doi: 10.1001/archotol.127.9.1061. Arch Otolaryngol Head Neck Surg. 2001. PMID: 11556853

8

The Stickler syndrome is closely linked to COL2A1, the structural gene for type II collagen.

Francomano CA, Liberfarb RM, Hirose T, Maumenee IH, Streeten EA, Meyers DA, Pyeritz RE. Francomano CA, et al. Among authors: liberfarb rm. Pathol Immunopathol Res. 1988;7(1-2):104-6. doi: 10.1159/000157103. Pathol Immunopathol Res. 1988. PMID: 3222200 No abstract available.

9

Prevalence of mitral-valve prolapse in the Stickler syndrome.

Liberfarb RM, Goldblatt A. Liberfarb RM, et al. Am J Med Genet. 1986 Jul;24(3):387-92. doi: 10.1002/ajmg.1320240302. Am J Med Genet. 1986. PMID: 3728560

10

Distinctive cataract in the Stickler syndrome.

Seery CM, Pruett RC, Liberfarb RM, Cohen BZ. Seery CM, et al. Among authors: liberfarb rm. Am J Ophthalmol. 1990 Aug 15;110(2):143-8. doi: 10.1016/s0002-9394(14)76982-x. Am J Ophthalmol. 1990. PMID: 2378378

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