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Prior, TW
Edwards, C
Marcucci, G
Carroll, AJ
Snyder, PJ
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Kolitz, JE
Larson, RA
Bloomfield, CD
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Smith, WM
Zhou, XP
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Cannistra, SA
Clinton, SK
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Eng, C
Citation: Wm. Smith et al., Opposite association of two PPARG variants with cancer: overrepresentationof H449H in endometrial carcinoma cases and underrepresentation of P12A inrenal cell carcinoma cases, HUM GENET, 109(2), 2001, pp. 146-151
Authors:
Mailman, MD
Hemingway, T
Darsey, RL
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Reich, EW
Theil, KS
Burghes, AHM
de la Chapelle, A
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Citation: Md. Mailman et al., Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome, HUM GENET, 108(2), 2001, pp. 109-115
Authors:
Morrison, CD
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Citation: Cd. Morrison et al., Increased D allele frequency of the angiotensin-converting enzyme gene in pulmonary fibrosis, HUMAN PATH, 32(5), 2001, pp. 521-528
Authors:
Miller, RG
Moore, DH
Dronsky, V
Bradley, W
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Leshner, R
Mendell, J
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Samaha, F
Smith, S
Citation: Rg. Miller et al., A placebo-controlled trial of gabapentin in spinal muscular atrophy, J NEUR SCI, 191(1-2), 2001, pp. 127-131
Authors:
Chadwick, RB
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Citation: Rb. Chadwick et al., Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma, J MED GENET, 38(7), 2001, pp. 461-466
Authors:
Gorman, TE
Julius, CJ
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Citation: Te. Gorman et al., Transfusion-associated graft-vs-host disease - A fatal case caused by blood from an unrelated HLA homozygous donor, AM J CLIN P, 113(5), 2000, pp. 732-737
Authors:
Monani, UR
Sendtner, M
Coovert, DD
Parsons, DW
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Schrank, B
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Morris, GE
Burghes, AHM
Citation: Ur. Monani et al., The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy, HUM MOL GEN, 9(3), 2000, pp. 333-339
Authors:
Zhou, XP
Smith, WM
Gimm, O
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Eng, C
Citation: Xp. Zhou et al., Over-representation of PPAR gamma sequence variants in sporadic cases of glioblastoma multiforme: preliminary evidence for common low penetrance modifiers for brain tumour risk in the general population, J MED GENET, 37(6), 2000, pp. 410-414
Authors:
Gorman, TE
Arcot, AN
Baker, P
Prior, TW
Brandt, JT
Citation: Te. Gorman et al., Prevalence of the factor V-Leiden mutation among autopsy patients with pulmonary thromboembolic disease using an improved method for factor V-Leiden detection, AM J CLIN P, 111(3), 1999, pp. 413-417
Authors:
Monani, UR
Lorson, CL
Parsons, DW
Prior, TW
Androphy, EJ
Burghes, AHM
McPherson, JD
Citation: Ur. Monani et al., A single nucleotide difference that alters splicing patterns distinguishesthe SMA gene SMN1 from the copy gene SMN2, HUM MOL GEN, 8(7), 1999, pp. 1177-1183
Citation: Md. Mailman et al., Identification of MEN1 mutations in sporadic enteropancreatic neuroendocrine tumors by analysis of paraffin-embedded tissue, CLIN CHEM, 45(1), 1999, pp. 29-34
Authors:
Pyatt, R
Chadwick, RB
Johnson, CK
Adebamowo, C
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Citation: R. Pyatt et al., Polymorphic variation at the BAT-25 and BAT-26 loci in individuals of African origin - Implications for microsatellite instability testing, AM J PATH, 155(2), 1999, pp. 349-353
Authors:
Parsons, DW
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Iannaccone, ST
Mendell, JR
Burghes, AHM
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Citation: Dw. Parsons et al., Intragenic telSMN mutations: Frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number, AM J HU GEN, 63(6), 1998, pp. 1712-1723