Pillers DA - Search Results

1

Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy.

Pillers DA, Towbin JA, Chamberlain JS, Wu D, Ranier J, Powell BR, McCabe ER. Pillers DA, et al. Am J Hum Genet. 1990 Nov;47(5):795-801. Am J Hum Genet. 1990. PMID: 2220819 Free PMC article.

2

Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.

Pillers DA, Weleber RG, Powell BR, Hanna CE, Magenis RE, Buist NR. Pillers DA, et al. Am J Med Genet. 1990 May;36(1):23-8. doi: 10.1002/ajmg.1320360106. Am J Med Genet. 1990. PMID: 2159212

3

Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness.

Weleber RG, Pillers DA, Powell BR, Hanna CE, Magenis RE, Buist NR. Weleber RG, et al. Among authors: pillers da. Arch Ophthalmol. 1989 Aug;107(8):1170-9. doi: 10.1001/archopht.1989.01070020236032. Arch Ophthalmol. 1989. PMID: 2667510 Review.

4

Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndrome.

Pillers DA, Seltzer WK, Powell BR, Ray PN, Tremblay F, La Roche GR, Lewis RA, McCabe ER, Eriksson AW, Weleber RG. Pillers DA, et al. Arch Ophthalmol. 1993 Nov;111(11):1558-63. doi: 10.1001/archopht.1993.01090110124037. Arch Ophthalmol. 1993. PMID: 8240114

5

Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations.

Pillers DA, Fitzgerald KM, Duncan NM, Rash SM, White RA, Dwinnell SJ, Powell BR, Schnur RE, Ray PN, Cibis GW, Weleber RG. Pillers DA, et al. Hum Genet. 1999 Jul-Aug;105(1-2):2-9. doi: 10.1007/s004399900111. Hum Genet. 1999. PMID: 10480348

6

DXS28 (C7) maps centromeric to DXS68 (L1-4) and DXS67 (B24) by deletion analysis.

Towbin JA, Chamberlain JS, Wu DR, Pillers DA, Seltzer WK, McCabe ER. Towbin JA, et al. Among authors: pillers da. Genomics. 1990 Jul;7(3):442-4. doi: 10.1016/0888-7543(90)90181-s. Genomics. 1990. PMID: 2163974

7

Characterization of the ocular phenotype of Duchenne and Becker muscular dystrophy.

Sigesmund DA, Weleber RG, Pillers DA, Westall CA, Panton CM, Powell BR, Héon E, Murphey WH, Musarella MA, Ray PN. Sigesmund DA, et al. Among authors: pillers da. Ophthalmology. 1994 May;101(5):856-65. doi: 10.1016/s0161-6420(13)31249-4. Ophthalmology. 1994. PMID: 8190471

8

Dystrophin expression in the human retina is required for normal function as defined by electroretinography.

Pillers DA, Bulman DE, Weleber RG, Sigesmund DA, Musarella MA, Powell BR, Murphey WH, Westall C, Panton C, Becker LE, et al. Pillers DA, et al. Nat Genet. 1993 May;4(1):82-6. doi: 10.1038/ng0593-82. Nat Genet. 1993. PMID: 8513332

9

Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation.

White DM, Pillers DA, Reiss JA, Brown MG, Magenis RE. White DM, et al. Among authors: pillers da. Am J Med Genet. 1995 Jul 17;57(4):588-97. doi: 10.1002/ajmg.1320570415. Am J Med Genet. 1995. PMID: 7573135

10

Redefinition of dystrophin isoform distribution in mouse tissue by RT-PCR implies role in nonmuscle manifestations of duchenne muscular dystrophy.

Tokarz SA, Duncan NM, Rash SM, Sadeghi A, Dewan AK, Pillers DA. Tokarz SA, et al. Among authors: pillers da. Mol Genet Metab. 1998 Dec;65(4):272-81. doi: 10.1006/mgme.1998.2763. Mol Genet Metab. 1998. PMID: 9889014

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