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Results: 1-8 |
Results: 8
Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia
Authors: Bartoloni, L Blouin, JL Maiti, AK Sainsbury, A Rossier, C Gehrig, C She, JX Marron, MP Lander, ES Meeks, M Chung, E Armengot, M Jorissen, M Scott, HS Delozier-Blanchet, CD Gardiner, RM Antonarakis, SE
Citation: L. Bartoloni et al., Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia, GENOMICS, 72(1), 2001, pp. 21-33
Novel insulin-like 3 (INSL3) gene mutation associated with human cryptorchidism
Authors: Marin, P Ferlin, A Moro, E Rossi, A Bartoloni, L Rossato, M Foresta, C
Citation: P. Marin et al., Novel insulin-like 3 (INSL3) gene mutation associated with human cryptorchidism, AM J MED G, 103(4), 2001, pp. 348-349
Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity
Authors: Blouin, JL Meeks, M Radhakrishna, U Sainsbury, A Gehring, C Sail, GD Bartoloni, L Dombi, V O'Rawe, A Walne, A Chung, E Afzelius, BA Armengot, M Jorissen, M Schidlow, DV van Maldergem, L Walt, H Gardiner, RM Probst, D Guerne, PA Delozier-Blanchet, CD Antonarakis, SE
Citation: Jl. Blouin et al., Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity, EUR J HUM G, 8(2), 2000, pp. 109-118
Myotilin is mutated in limb girdle muscular dystrophy 1A
Authors: Hauser, MA Horrigan, SK Salmikangas, P Torian, UM Viles, KD Dancel, R Tim, RW Taivainen, A Bartoloni, L Gilchrist, JM Stajich, JM Gaskell, PC Gilbert, JR Vance, JM Pericak-Vance, MA Carpen, O Westbrook, CA Speer, MC
Citation: Ma. Hauser et al., Myotilin is mutated in limb girdle muscular dystrophy 1A, HUM MOL GEN, 9(14), 2000, pp. 2141-2147
No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with Primary Ciliary Dyskinesia (PCD)
Authors: Maiti, AK Bartoloni, L Mitchison, HM Meeks, M Chung, E Spiden, S Gehrig, C Rossier, C DeLozier-Blanchet, CD Blouin, JL Gardiner, RM Antonarakis, SE
Citation: Ak. Maiti et al., No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with Primary Ciliary Dyskinesia (PCD), CYTOG C GEN, 90(1-2), 2000, pp. 119-122
A radiation hybrid breakpoint map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of chromosome 5q31 localizing 122 expressed sequences
Authors: Horrigan, SK Bartoloni, L Speer, MC Fulton, N Kravarusic, J Ramesar, R Vance, JM Yamaoka, LH Westbrook, CA
Citation: Sk. Horrigan et al., A radiation hybrid breakpoint map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of chromosome 5q31 localizing 122 expressed sequences, GENOMICS, 57(1), 1999, pp. 24-35
Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping
Authors: Bartoloni, L Blouin, JLC Sainsbury, AJ Gos, A Morris, MA Affara, NA DeLozier-Blanchet, CD Antonarakis, SE
Citation: L. Bartoloni et al., Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping, CYTOG C GEN, 84(3-4), 1999, pp. 188-189
Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31
Authors: Bartoloni, L Horrigan, SK Viles, KD Gilchrist, JM Stajich, JM Vance, JM Yamaoka, LH Pericak-Vance, MA Westbrook, CA Speer, MC
Citation: L. Bartoloni et al., Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31, GENOMICS, 54(2), 1998, pp. 250-255
Risultati: 1-8 |