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Results: 1-14 |
Results: 14
Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype
Authors: Unger, SL Briggs, MD Holden, P Zabel, B Ala-Kokko, L Paassilta, P Lohiniva, J Rimoin, DL Lachman, RS Cohn, DH
Citation: Sl. Unger et al., Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype, PEDIAT RAD, 31(1), 2001, pp. 10-18
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita
Authors: Unger, S Korkko, J Krakow, D Lachman, RS Rimoin, DL Cohn, DH
Citation: S. Unger et al., Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita, AM J MED G, 104(2), 2001, pp. 140-146
Procollagen II amino propeptide processing by ADAMTS-3 - Insights on dermatosparaxis
Authors: Fernandes, RJ Hirohata, S Engle, JM Colige, A Cohn, DH Eyre, DR Apte, SS
Citation: Rj. Fernandes et al., Procollagen II amino propeptide processing by ADAMTS-3 - Insights on dermatosparaxis, J BIOL CHEM, 276(34), 2001, pp. 31502-31509
Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes
Authors: Krakow, D Salazar, D Wilcox, WR Rimoin, DL Cohn, DH
Citation: D. Krakow et al., Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes, EUR J HUM G, 8(8), 2000, pp. 645-648
Exon skipping mutation in the COL9A2 gene in a family with multiple epiphyseal dysplasia
Authors: Spayde, EC Joshi, AP Wilcox, WR Briggs, M Cohn, DH Olsen, BR
Citation: Ec. Spayde et al., Exon skipping mutation in the COL9A2 gene in a family with multiple epiphyseal dysplasia, MATRIX BIOL, 19(2), 2000, pp. 121-128
Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: Analysis of potential premature termination codons
Authors: Wilkin, DJ Liberfarb, R Davis, J Levy, HP Cole, WG Francomano, CA Cohn, DH
Citation: Dj. Wilkin et al., Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: Analysis of potential premature termination codons, AM J MED G, 94(2), 2000, pp. 141-148
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis
Authors: Korkko, J Cohn, DH Ala-Kokko, L Krakow, D Prockop, DJ
Citation: J. Korkko et al., Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis, AM J MED G, 92(2), 2000, pp. 95-100
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder
Authors: Mortier, GR Weis, M Nuytinck, L King, LM Wilkin, DJ De Paepe, A Lachman, RS Rimoin, D Eyre, DR Cohn, DH
Citation: Gr. Mortier et al., Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder, J MED GENET, 37(4), 2000, pp. 263-271
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder (vol 37, pg 263, 2000)
Authors: Mortier, GR Weis, M Nuytinck, L King, LM Wilkin, DJ DePaepe, A Lachman, RS Rimoin, D Eyre, DR Cohn, DH
Citation: Gr. Mortier et al., Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder (vol 37, pg 263, 2000), J MED GENET, 37(10), 2000, pp. 815-815
A locus for an autosomal dominant form of progressive renal failure and hypertension at chromosome 1q21
Authors: Cohn, DH Shohat, T Yahav, M Ilan, T Rechavi, G King, L Shohat, M
Citation: Dh. Cohn et al., A locus for an autosomal dominant form of progressive renal failure and hypertension at chromosome 1q21, AM J HU GEN, 67(3), 2000, pp. 647-651
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
Authors: Gong, YQ Krakow, D Marcelino, J Wilkin, D Chitayat, D Babul-Hirji, R Hudgins, L Cremers, CW Cremers, FPM Brunner, HG Reinker, K Rimoin, DL Cohn, DH Goodman, FR Reardon, W Patton, M Francomano, CA Warman, ML
Citation: Yq. Gong et al., Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis, NAT GENET, 21(3), 1999, pp. 302-304
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene
Authors: Delot, E King, LM Briggs, MD Wilcox, WR Cohn, DH
Citation: E. Delot et al., Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene, HUM MOL GEN, 8(1), 1999, pp. 123-128
Small deletions in the type II collagen triple helix produce Kniest dysplasia
Authors: Wilkin, DJ Artz, AS South, S Lachman, RS Rimoin, DL Wilcox, WR McKusick, VA Stratakis, CA Francomano, CA Cohn, DH
Citation: Dj. Wilkin et al., Small deletions in the type II collagen triple helix produce Kniest dysplasia, AM J MED G, 85(2), 1999, pp. 105-112
Human Ehlers-Danlos syndrome type VIIC and bovine dermatosparaxis are caused by mutations in the procollagen IN-proteinase gene
Authors: Colige, A Sieron, AL Li, SW Schwarze, U Petty, E Wertelecki, W Wilcox, W Krakow, D Cohn, DH Reardon, W Byers, PH Lapiere, CM Prockop, DJ Nusgens, BV
Citation: A. Colige et al., Human Ehlers-Danlos syndrome type VIIC and bovine dermatosparaxis are caused by mutations in the procollagen IN-proteinase gene, AM J HU GEN, 65(2), 1999, pp. 308-317
Risultati: 1-14 |