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Items: 1 to 20 of 79

1.

Bloom syndrome: multiple retinopathies in a chromosome breakage disorder.

Bhisitkul RB, Rizen M.

Br J Ophthalmol. 2004 Mar;88(3):354-7.

2.

Early-onset drusen in a girl with bloom syndrome: probable clinical importance of an ocular manifestation.

Aslan D, Oztürk G, Kaya Z, Bideci A, Ozdogãan S, Ozdek S, Gürsel T.

J Pediatr Hematol Oncol. 2004 Apr;26(4):256-7.

PMID:
15087955
3.

Retinoblastoma in association with the chromosome breakage syndromes Fanconi's anaemia and Bloom's syndrome: clinical and cytogenetic findings.

Gibbons B, Scott D, Hungerford JL, Cheung KL, Harrison C, Attard-Montalto S, Evans M, Birch JM, Kingston JE.

Clin Genet. 1995 Jun;47(6):311-7.

PMID:
7554365
4.

Successful pregnancy in a woman with Bloom syndrome.

Chisholm CA, Bray MJ, Karns LB.

Am J Med Genet. 2001 Aug 1;102(2):136-8.

PMID:
11477604
5.

Diabetes mellitus in a young man with Bloom's syndrome.

Mori S, Kondo N, Motoyoshi F, Yamaguchi S, Kaneko H, Orii T.

Clin Genet. 1990 Nov;38(5):387-90.

PMID:
2282719
6.

The retinal "lozenge" or "dull macular reflex" in Alport syndrome may be associated with a severe retinopathy and early-onset renal failure.

Colville D, Wang YY, Tan R, Savige J.

Br J Ophthalmol. 2009 Mar;93(3):383-6. doi: 10.1136/bjo.2008.142869. Epub 2008 Nov 19.

PMID:
19019929
7.

Clinical spectrum of chromosome 6-linked autosomal dominant drusen and macular degeneration.

Stefko ST, Zhang K, Gorin MB, Traboulsi EI.

Am J Ophthalmol. 2000 Aug;130(2):203-8.

PMID:
11004295
8.

Molecular composition of drusen and possible involvement of anti-retinal autoimmunity in two different forms of macular degeneration in cynomolgus monkey (Macaca fascicularis).

Umeda S, Suzuki MT, Okamoto H, Ono F, Mizota A, Terao K, Yoshikawa Y, Tanaka Y, Iwata T.

FASEB J. 2005 Oct;19(12):1683-5. Epub 2005 Aug 12. Erratum in: FASEB J. 2005 Dec;19(14):2088.

PMID:
16099945
9.

Myelodysplastic syndrome associated with monosomy 7 in a child with Bloom syndrome.

Aktas D, Koc A, Boduroglu K, Hicsonmez G, Tuncbilek E.

Cancer Genet Cytogenet. 2000 Jan 1;116(1):44-6.

PMID:
10616531
10.

Drusen-associated degeneration in the retina.

Johnson PT, Lewis GP, Talaga KC, Brown MN, Kappel PJ, Fisher SK, Anderson DH, Johnson LV.

Invest Ophthalmol Vis Sci. 2003 Oct;44(10):4481-8.

PMID:
14507896
11.
12.

Flecked retina associated with ring 17 chromosome.

Charles SJ, Moore AT, Davison BC, Dyson HM, Willatt L.

Br J Ophthalmol. 1991 Feb;75(2):125-7.

13.

Sclerosing hyaline necrosis of the liver in Bloom syndrome.

Wang J, Cornford ME, German J, French SW.

Arch Pathol Lab Med. 1999 Apr;123(4):346-50.

PMID:
10320150
14.

[Occurrence of changes in the eye in diabetic retinopathy with significant myopia].

Dujić M, Misailović K, Nikolić Lj, Ignjacev M.

Srp Arh Celok Lek. 1998 Nov-Dec;126(11-12):457-60. Serbian.

PMID:
9921019
15.

MRI retinovascular studies in humans: research in patients with diabetes.

Trick GL, Edwards PA, Desai U, Morton PE, Latif Z, Berkowitz BA.

NMR Biomed. 2008 Nov;21(9):1003-12. doi: 10.1002/nbm.1314. Review.

PMID:
18821575
16.

Renal pathology patterns in type II diabetes mellitus: relationship with retinopathy. The Collaborative Study Group.

Schwartz MM, Lewis EJ, Leonard-Martin T, Lewis JB, Batlle D.

Nephrol Dial Transplant. 1998 Oct;13(10):2547-52.

PMID:
9794557
17.

Chromosomal breakage in human spermatozoa, a heterozygous effect of the Bloom syndrome mutation.

Martin RH, Rademaker A, German J.

Am J Hum Genet. 1994 Dec;55(6):1242-6.

18.

Recent advances in chromosome breakage syndromes and their diagnosis.

Mathur R, Chowdhury MR, Singh G.

Indian Pediatr. 2000 Jun;37(6):615-25. Review.

PMID:
10869141
19.

Lens opacities in Bloom syndrome: case report and review of the literature.

Cefle K, Ozturk S, Gozum N, Duman N, Mantar F, Guler K, Palanduz S.

Ophthalmic Genet. 2007 Sep;28(3):175-8. Review.

PMID:
17896317
20.

Lupus-like histopathology in bloom syndrome: reexamining the clinical and histologic implications of photosensitivity.

McGowan J, Maize J, Cook J.

Am J Dermatopathol. 2009 Dec;31(8):786-91. doi: 10.1097/DAD.0b013e3181b3aa34.

PMID:
19820394

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