D A Stevenson
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Explore the profile of D A Stevenson including associated specialties, affiliations and a list of published articles.
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30
Citations
313
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Recent Articles
1.
Cif L, Cif L, Demailly D, Demailly D, Lin J, Lin J, et al.
ArXiv
. 2025 Feb;
PMID: 39990802
Heterozygous mutations in are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial...
2.
Stevenson D, Schwarz E, Carey J, Viskochil D, Hanson H, Bauer S, et al.
Clin Genet
. 2011 Jan;
80(6):566-73.
PMID: 21204800
Disorders of the Ras/mitogen-activated protein kinase (MAPK) pathway have an overlapping skeletal phenotype (e.g. scoliosis, osteopenia). The Ras proteins regulate cell proliferation and differentiation and neurofibromatosis type 1 (NF1) individuals...
3.
McDonald J, Damjanovich K, Millson A, Wooderchak W, Chibuk J, Stevenson D, et al.
Clin Genet
. 2010 Dec;
79(4):335-44.
PMID: 21158752
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by a unique pattern of telangiectasia and arteriovenous malformations (AVMs). Mutations in one of two genes (ENG and ACVRL1)...
4.
Stevenson D, Swoboda K, Sanders R, Bamshad M
Am J Med Genet A
. 2006 Nov;
140(24):2797-801.
PMID: 17103435
The distal arthrogryposis (DA) syndromes are a distinct group of disorders characterized by contractures of two or more different body areas. More than a decade ago, we revised the classification...
5.
Stevenson D, Viskochil D, Rope A, Carey J
Clin Genet
. 2006 Mar;
69(3):246-53.
PMID: 16542390
Neurofibromatosis-Noonan syndrome (NFNS) has been described as a unique phenotype, combining manifestations of neurofibromatosis type 1 (NF1) and Noonan syndrome, which are separate syndromes. Potential etiologies of NFNS include a...
6.
Stevenson D, Moyer-Mileur L, Carey J, Quick J, Hoff C, Viskochil D
J Musculoskelet Neuronal Interact
. 2005 Jun;
5(2):145-9.
PMID: 15951630
Skeletal anomalies are observed in neurofibromatosis type 1 (NF1), but the pathogenesis is unknown. Given that muscle mass is important in the development of the strength of bone, peripheral quantitative...
7.
Stevenson D, Hart B, Clericuzio C
Am J Med Genet
. 2001 Dec;
104(4):295-8.
PMID: 11754063
Hydranencephaly is a condition in which cerebral hemispheres are absent and reduced to fluid-filled sacs in a normal skull. Numerous causes have been proposed. We report a male infant with...
8.
Rooney P, Boonsong A, McKay J, Marsh S, Stevenson D, Murray G, et al.
Br J Cancer
. 2001 Nov;
85(10):1492-8.
PMID: 11720434
Colorectal cancer (CRC) is a leading cause of cancer death and the mechanism for variable outcome in this disease is not yet fully understood. It is hypothesized that differences in...
9.
Boonsong A, Marsh S, Rooney P, Stevenson D, Cassidy J, McLeod H
Cancer Genet Cytogenet
. 2000 Aug;
121(1):56-60.
PMID: 10958942
DNA topoisomerase I (topo I) is the principle target for Camptothecin and its analogues. The topo I gene is located on chromosome 20q11.2-q13.1 and variation in topo I gene copy...
10.
Munro L, Stevenson D, Culligan D
Cancer Genet Cytogenet
. 1999 Oct;
114(1):78-9.
PMID: 10526541
We report a novel chromosomal translocation (X;5)(q13;q33) in a woman with no history of prior chemotherapy or radiotherapy, found to have essential thrombocythemia. Aberrations in chromosome 5, mostly deletions of...