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Results: 1-11 |
Results: 11
An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree
Authors: Radhakrishna, U Senol, S Herken, H Gucuyener, K Gehrig, C Blouin, JL Akarsu, NA Antonarakis, SE
Citation: U. Radhakrishna et al., An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree, EUR J HUM G, 9(1), 2001, pp. 39-44
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
Genetic heterogeneity in schizophrenia: stratification of genome scan datausing co-segregating related phenotypes
Authors: Pulver, AE Mulle, J Nestadt, G Swartz, KL Blouin, JL Dombroski, B Liang, KY Housman, DE Kazazian, HH Antonarakis, SE Lasseter, VK Wolyniec, PS Thornquist, MH McGrath, JA
Citation: Ae. Pulver et al., Genetic heterogeneity in schizophrenia: stratification of genome scan datausing co-segregating related phenotypes, MOL PSYCHI, 5(6), 2000, pp. 650-653
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
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
Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child
Authors: DeLozier-Blanchet, CD Roeder, E Denis-Arrue, R Blouin, JL Low, J Fisher, J Scharnhorst, D Curry, CJ
Citation: Cd. Delozier-blanchet et al., Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child, AM J MED G, 95(5), 2000, pp. 444-449
Multicenter linkage study of schizophrenia candidate regions on chromosomes 5q, 6q, 10p, and 13q: Schizophrenia linkage collaborative group III
Authors: Levinson, DF Holmans, P Straub, RE Owen, MJ Wildenauer, DB Gejman, PV Pulver, AE Laurent, C Kendler, KS Walsh, D Norton, N Williams, NM Schwab, SG Lerer, B Mowry, BJ Sanders, AR Antonarakis, SE Blouin, JL DeLeuze, JF Mallet, J
Citation: Df. Levinson et al., Multicenter linkage study of schizophrenia candidate regions on chromosomes 5q, 6q, 10p, and 13q: Schizophrenia linkage collaborative group III, AM J HU GEN, 67(3), 2000, pp. 652-663
Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21
Authors: Antonarakis, SE Blouin, JL Lasseter, VK Gehrig, C Radhakrishna, U Nestadt, G Housman, DE Kazazian, HH Kalman, K Gutman, G Fantino, E Chandy, KG Gargus, JJ Arm, E
Citation: Se. Antonarakis et al., Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21, AM J MED G, 88(4), 1999, pp. 348-351
No evidence for linkage between schizophrenia and markers at chromosome 15q13-14
Authors: Curtis, L Blouin, JL Radhakrishna, U Gehrig, C Lasseter, VK Wolyniec, P Nestadt, G Dombroski, B Kazazian, HH Pulver, AE Housman, D Bertrand, D Antonarakis, SE
Citation: L. Curtis et al., No evidence for linkage between schizophrenia and markers at chromosome 15q13-14, AM J MED G, 88(2), 1999, pp. 109-112
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations
Authors: Radhakrishna, U Bornholdt, D Scott, HS Patel, UC Rossier, C Engel, H Bottani, A Chandal, D Blouin, JL Solanki, JV Grzeschik, KH Antonarakis, SE
Citation: U. Radhakrishna et al., The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations, AM J HU GEN, 65(3), 1999, pp. 645-655
Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity
Authors: Mehenni, H Gehrig, C Nezu, J Oku, A Shimane, M Rossier, C Guex, N Blouin, JL Scott, HS Antonarakis, SE
Citation: H. Mehenni et al., Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity, AM J HU GEN, 63(6), 1998, pp. 1641-1650
Risultati: 1-11 |