Recent Publications In Medical Genetics
Aortic Aneurysms
Genetic basis of thoracic aortic aneurysms and aortic dissections.
Am J Med Genet C Semin Med Genet. 2005 Nov 15;139(1):10-6
Lack of an association between the angiotensin-converting enzyme insertion/deletion polymorphism and intracranial aneurysms in a Caucasian population in the United States.
J Neurosurg. 2005 Jul;103(1):92-6
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.
Circulation. 2005 Jul 26;112(4):513-20. Epub 2005 Jul 18
Familial aggregation of both aortic and cerebral aneurysms: evidence for a common genetic basis in a subset of families.
Neurosurgery. 2005 Apr;56(4):655-61; discussion 655-61
Treatment of aortic disease in patients with Marfan syndrome.
Circulation. 2005 Mar 22;111(11):e150-7
Nonsyndromic genetic predisposition to aortic dissection: a newly recognized, diagnosable, and preventable occurrence in families.
Ann Emerg Med. 2004 Jan;43(1):79-82
Incidence of familial intracranial aneurysms in 200 patients: comparison among Caucasian, African-American, and Hispanic populations.
Neurosurgery. 2003 Aug;53(2):302-8
Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25.
Circulation. 2003 Jul 1;107(25):3184-90. Epub 2003 Jun 23
Genetic basis of thoracic aortic aneurysms and dissections.
Curr Opin Cardiol. 2002 Nov;17(6):677-83. Review
FBN1 exon 2 splicing error in a patient with Marfan syndrome.
Am J Med Genet. 2001 Jun 15;101(2):130-4
Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder.
Circulation. 2001 May 22;103(20):2469-75
Genetics of cardiovascular disease.
Circulation. 2000 Nov 14;102(20 Suppl 4):IV103-11. Review
Marfan Syndrome
FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly.
J Med Genet. 2004 May;41(5):e56
Dolichonychia in women with Marfan syndrome.
South Med J. 2004 Apr;97(4):354-8
Microcornea and subluxated lenses due to a splicing error in the fibrillin-1 gene in a patient with Marfan syndrome.
Arch Ophthalmol. 2003 Apr;121(4):579-81
Genetic disorders of the elastic fiber system.
Matrix Biol. 2000 Nov;19(6):471-80. Review
Congenital Contractural Arachnodactyly (Beals' Syndrome)
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.
Hum Mutat. 2002 Jan;19(1):39-48
The metacarpophalangeal profile in a family with congenital contractural arachnodactyly.
Genet Couns. 2000;11(1):57-8
Systemic Sclerosis (Scleroderma)
Autoantibodies to fibrillin-1 activate normal human fibroblasts in culture through the TGF-beta pathway to recapitulate the "scleroderma phenotype".
J Immunol. 2005 Oct 1;175(7):4555-60
Classification analysis of the transcriptosome of nonlesional cultured dermal fibroblasts from systemic sclerosis patients with early disease.
Arthritis Rheum. 2005 Mar;52(3):865-76
Small interfering RNA inhibition of SPARC attenuates the profibrotic effect of transforming growth factor beta1 in cultured normal human fibroblasts.
Arthritis Rheum. 2005 Jan;52(1):257-61
Fibrillin 1 abnormalities in dermal fibroblast cultures from first-degree relatives of patients with systemic sclerosis (scleroderma).
Arthritis Rheum. 2004 Jan;50(1):329-32
Genome-wide association study for regions of systemic sclerosis susceptibility in a Choctaw Indian population with high disease prevalence.
Arthritis Rheum. 2003 Sep;48(9):2585-92
Association of novel polymorphisms with the expression of SPARC in normal fibroblasts and with susceptibility to scleroderma.
Arthritis Rheum. 2002 Nov;46(11):2990-9
Systemic sclerosis (scleroderma): specific autoantigen genes are selectively overexpressed in scleroderma fibroblasts.
J Immunol. 2001 Dec 15;167(12):7126-33
Abnormalities in fibrillin 1-containing microfibrils in dermal fibroblast cultures from patients with systemic sclerosis (scleroderma).
Arthritis Rheum. 2001 Aug;44(8):1855-64
Other
Characterization of an aquaporin-2 water channel gene mutation causing partial nephrogenic diabetes insipidus in a Mexican family: evidence of increased frequency of the mutation in the town of origin.
J Am Soc Nephrol. 2004 May;15(5):1223-31
Profibrillin-1 maturation by human dermal fibroblasts: proteolytic processing and molecular chaperones.
J Cell Biochem. 2003 Oct 15;90(3):641-52
Genetic Susceptibility to Enteroaggregative Escherichia coli Diarrhea: Polymorphism in the Interleukin-8 Promotor Region.
J Infect Dis. 2003 Aug 15;188(4):506-11. Epub 2003 Jul 25
A novel mutation in human PAX9 causes molar oligodontia.
J Dent Res. 2002 Feb;81(2):129-33
Characterization of a novel autosomal dominant bleeding disorder in a large kindred from east Texas.
Blood. 2001 Mar 15;97(6):1549-54
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