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Results: 1-16 |
Results: 16
FBN1 exon 2 splicing error in a patient with Marfan syndrome
Authors: Guo, D Tan, FK Cantu, A Plon, SE Milewicz, DM
Citation: D. Guo et al., FBN1 exon 2 splicing error in a patient with Marfan syndrome, AM J MED G, 101(2), 2001, pp. 130-134
Sterols in blood of normal and Smith-Lemli-Opitz subjects
Authors: Ruan, BF Wilson, WK Pang, JH Gerst, N Pinkerton, FD Tsai, J Kelley, RI Whitby, FG Milewicz, DM Garbern, J Schroepfer, GJ
Citation: Bf. Ruan et al., Sterols in blood of normal and Smith-Lemli-Opitz subjects, J LIPID RES, 42(5), 2001, pp. 799-812
Systemic sclerosis (scleroderma): Specific autoantigen genes are selectively overexpressed in scleroderma fibroblasts
Authors: Zhou, XD Tan, FK Xiong, MM Milewicz, DM Feghali, CA Fritzler, MJ Reveille, JD Arnett, FC
Citation: Xd. Zhou et al., Systemic sclerosis (scleroderma): Specific autoantigen genes are selectively overexpressed in scleroderma fibroblasts, J IMMUNOL, 167(12), 2001, pp. 7126-7133
Familial thoracic aortic aneurysms and dissections - Genetic heterogeneitywith a major locus mapping to 5q13-14
Authors: Guo, DC Hasham, S Kuang, SQ Vaughan, CJ Boerwinkle, E Chen, H Abuelo, D Dietz, HC Basson, CT Shete, SS Milewicz, DM
Citation: Dc. Guo et al., Familial thoracic aortic aneurysms and dissections - Genetic heterogeneitywith a major locus mapping to 5q13-14, CIRCULATION, 103(20), 2001, pp. 2461-2468
Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder
Authors: Vaughan, CJ Casey, M He, J Veugelers, M Henderson, K Guo, DC Campagna, R Roman, MJ Milewicz, DM Devereux, RB Basson, CT
Citation: Cj. Vaughan et al., Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder, CIRCULATION, 103(20), 2001, pp. 2469-2475
Characterization of a novel autosomal dominant bleeding disorder in a large kindred from east Texas
Authors: Kuang, SQ Hasham, S Phillips, MD Wolf, D Wan, Y Thiagarajan, P Milewicz, DM
Citation: Sq. Kuang et al., Characterization of a novel autosomal dominant bleeding disorder in a large kindred from east Texas, BLOOD, 97(6), 2001, pp. 1549-1554
Abnormalities in fibrillin 1-containing microfibrils in dermal fibroblast cultures from patients with systemic sclerosis (scleroderma)
Authors: Wallis, DD Tan, FK Kielty, CM Kimball, MD Arnett, FC Milewicz, DM
Citation: Dd. Wallis et al., Abnormalities in fibrillin 1-containing microfibrils in dermal fibroblast cultures from patients with systemic sclerosis (scleroderma), ARTH RHEUM, 44(8), 2001, pp. 1855-1864
Association of fibrillin 1 single-nucleotide polymorphism haplotypes with systemic sclerosis in Choctaw and Japanese populations
Authors: Tan, FK Wang, N Kuwana, M Chakraborty, R Bona, CA Milewicz, DM Arnett, FC
Citation: Fk. Tan et al., Association of fibrillin 1 single-nucleotide polymorphism haplotypes with systemic sclerosis in Choctaw and Japanese populations, ARTH RHEUM, 44(4), 2001, pp. 893-901
The metacarpophalangeal profile in a family with congenital contractural arachnodactyly
Authors: Guala, A Danesino, C Milewicz, DM Putnam, EA Franceschini, F
Citation: A. Guala et al., The metacarpophalangeal profile in a family with congenital contractural arachnodactyly, GEN COUNSEL, 11(1), 2000, pp. 57-58
Genetic disorders of the elastic fiber system
Authors: Milewicz, DM Urban, Z Boyd, C
Citation: Dm. Milewicz et al., Genetic disorders of the elastic fiber system, MATRIX BIOL, 19(6), 2000, pp. 471-480
Genetics of cardiovascular disease
Authors: Milewicz, DM Seidman, CE
Citation: Dm. Milewicz et Ce. Seidman, Genetics of cardiovascular disease, CIRCULATION, 102(20), 2000, pp. 103-111
Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent
Authors: Ades, LC Davies, R Haan, EA Holman, KJ Watson, KC Sreetharan, D Cao, SN Milewicz, DM Bateman, JF Chiodo, AA Eccles, M McNoe, L Harbord, M
Citation: Lc. Ades et al., Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent, CLIN DYSMOR, 8(4), 1999, pp. 269-276
Carboxy-terminal conversion of profibrillin to fibrillin at a basic site by PACE/furin-like activity required for incorporation in the matrix
Authors: Raghunath, M Putnam, EA Ritty, T Hamstra, D Park, ES Tschodrich-Rotter, M Peters, R Rehemtulla, A Milewicz, DM
Citation: M. Raghunath et al., Carboxy-terminal conversion of profibrillin to fibrillin at a basic site by PACE/furin-like activity required for incorporation in the matrix, J CELL SCI, 112(7), 1999, pp. 1093-1100
Processing of the fibrillin-1 carboxyl-terminal domain
Authors: Ritty, TM Broekelmann, T Tisdale, C Milewicz, DM Mecham, RP
Citation: Tm. Ritty et al., Processing of the fibrillin-1 carboxyl-terminal domain, J BIOL CHEM, 274(13), 1999, pp. 8933-8940
Inherited disorders of the aorta
Authors: Milewicz, DM
Citation: Dm. Milewicz, Inherited disorders of the aorta, DEV CARD M, 212, 1999, pp. 129-160
Familial thoracic aortic aneurysms and dissections
Authors: Prahlow, JA Barnard, JJ Milewicz, DM
Citation: Ja. Prahlow et al., Familial thoracic aortic aneurysms and dissections, J FOREN SCI, 43(6), 1998, pp. 1244-1249
Risultati: 1-16 |