Pillers DA - Search Results

1

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

2

Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm.

Boyd LJ, Livingston JS, Brown MG, Lawce HJ, Gilhooly JT, Wildin RS, Linck LM, Magenis RE, Pillers DA. Boyd LJ, et al. Among authors: pillers da. Am J Med Genet A. 2005 Nov 1;138(4):355-60. doi: 10.1002/ajmg.a.30895. Am J Med Genet A. 2005. PMID: 16177985

3

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

4

Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region.

Nickel RE, Pillers DA, Merkens M, Magenis RE, Driscoll DA, Emanuel BS, Zonana J. Nickel RE, et al. Among authors: pillers da. Am J Med Genet. 1994 Oct 1;52(4):445-9. doi: 10.1002/ajmg.1320520410. Am J Med Genet. 1994. PMID: 7747757

5

Interstitial duplication of the short arm of chromosome 1 in a newborn with congenital heart disease and multiple malformations.

Warden CR, Pillers DA, Rice MJ, Wildes J, Livingston JS, Clark BA, Gilhooly JT, Magenis RE. Warden CR, et al. Among authors: pillers da. Am J Med Genet. 2001 Jun 15;101(2):100-5. doi: 10.1002/ajmg.1337. Am J Med Genet. 2001. PMID: 11391651

6

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.

7

Velo-cardio-facial and DiGeorge syndromes with meningomyelocele and deletions of the 22Q11 region.

Nickel RE, Pillers DA, Merkens M, Magenis RE, Driscoll DA, Emanuel BS, Zonana J. Nickel RE, et al. Among authors: pillers da. Eur J Pediatr Surg. 1993 Dec;3 Suppl 1:27-8. Eur J Pediatr Surg. 1993. PMID: 8130147 No abstract available.

8

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.

9

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

10

OA1 mutations and deletions in X-linked ocular albinism.

Schnur RE, Gao M, Wick PA, Keller M, Benke PJ, Edwards MJ, Grix AW, Hockey A, Jung JH, Kidd KK, Kistenmacher M, Levin AV, Lewis RA, Musarella MA, Nowakowski RW, Orlow SJ, Pagon RS, Pillers DA, Punnett HH, Quinn GE, Tezcan K, Wagstaff J, Weleber RG. Schnur RE, et al. Among authors: pillers da. Am J Hum Genet. 1998 Apr;62(4):800-9. doi: 10.1086/301776. Am J Hum Genet. 1998. PMID: 9529334 Free PMC article.

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