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Results: 1-25/29
Authors:
Seznec, H
Agbulut, O
Sergeant, N
Savouret, C
Ghestem, A
Tabti, N
Willer, JC
Ourth, L
Duros, C
Brisson, E
Fouquet, C
Butler-Browne, G
Delacourte, A
Junien, C
Gourdon, G
Citation: H. Seznec et al., Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities, HUM MOL GEN, 10(23), 2001, pp. 2717-2726
Authors:
Furling, D
Coiffier, L
Mouly, V
Barbet, JP
St Guily, JL
Taneja, K
Gourdon, G
Junien, C
Butler-Browne, GS
Citation: D. Furling et al., Defective satellite cells in congenital myotonic dystrophy, HUM MOL GEN, 10(19), 2001, pp. 2079
Authors:
Gallou, C
Longuemaux, S
Delomenie, C
Mejean, A
Martin, N
Martinet, SP
Palais, G
Bouvier, R
Droz, D
Krishnamoorthy, R
Junien, C
Beroud, C
Dupret, JM
Citation: C. Gallou et al., Association of GSTT1 non-null and NAT1 slow/rapid genotypes with von Hippel-Lindau tumour suppressor gene transversions in sporadic renal cell carcinoma, PHARMACOGEN, 11(6), 2001, pp. 521-535
Authors:
de Lonlay-Debeney, P
Fournet, JC
Touati, G
Robert, JJ
Junien, C
Saudubray, JM
Citation: P. De Lonlay-debeney et al., Hyperinsulinism, ARCH PED, 8, 2001, pp. 298S-300S
Authors:
Junien, C
Citation: C. Junien, Colon cancer and nutrigenetics: modifier genes, ANN MED IN, 152(5), 2001, pp. 337-351
Authors:
Fournet, JC
Mayaud, C
de Lonlay, P
Gross-Morand, MS
Verkarre, V
Castanet, M
Devillers, M
Rahier, J
Brunelle, F
Robert, JJ
Nihoul-Fekete, C
Saudubray, JM
Junien, C
Citation: Jc. Fournet et al., Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism - Association with a reduction to hamozygosity of a mutation in ABCC8 or KCNJ11, AM J PATH, 158(6), 2001, pp. 2177-2184
Authors:
Rabes, JP
Varret, M
Devillers, M
Aegerter, P
Villeger, L
Krempf, M
Junien, C
Boileau, C
Citation: Jp. Rabes et al., R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia, ART THROM V, 20(10), 2000, pp. E76-E82
Authors:
Baudry, D
Hamelin, M
Cabanis, MO
Fournet, JC
Tournade, MF
Sarnacki, S
Junien, C
Jeanpierre, C
Citation: D. Baudry et al., WT1 splicing alterations in Wilms' tumors, CLIN CANC R, 6(10), 2000, pp. 3957-3965
Authors:
Beroud, C
Collod-Beroud, G
Boileau, C
Soussi, T
Junien, C
Citation: C. Beroud et al., UMD (Universal Mutation Database): A Generic software to build and analyzelocus-specific databases, HUM MUTAT, 15(1), 2000, pp. 86-94
Authors:
Saint-Jore, B
Varret, M
Dachet, C
Rabes, JP
Devillers, M
Erlich, D
Blanchard, P
Krempf, M
Mathe, D
Chanu, B
Jacotot, B
Farnier, M
Bonaiti-Pellie, C
Junien, C
Boileau, C
Citation: B. Saint-jore et al., Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects, EUR J HUM G, 8(8), 2000, pp. 621-630
Authors:
Marquis, E
Robert, JJ
Benezech, C
Junien, C
Diatloff-Zito, C
Citation: E. Marquis et al., Variable features of transient neonatal diabetes mellitus with paternal isodisomy of chromosome 6, EUR J HUM G, 8(2), 2000, pp. 137-140
Authors:
Seznec, H
Lia-Baldini, AS
Duros, C
Fouquet, C
Lacroix, C
Hofmann-Radvanyi, H
Junien, C
Gourdon, G
Citation: H. Seznec et al., Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability, HUM MOL GEN, 9(8), 2000, pp. 1185-1194
Authors:
Junien, C
Citation: C. Junien, Parental imprinting: from tug of war to solidarity between the generations, M S-MED SCI, 16(3), 2000, pp. 336-344
Authors:
Kaplan, JC
Junien, C
Citation: Jc. Kaplan et C. Junien, Genomics and medicine: an anticipation. From Boolean Mendelian genetics tomultifactorial molecular medicine, CR AC S III, 323(12), 2000, pp. 1167-1174
Loss of imprinted genes and paternal SUR1 mutations lead to focal form of congenital hyperinsulinism
Authors:
Fournet, JC
Mayaud, C
de Lonlaya, P
Verkarre, V
Rahier, J
Brunelle, F
Robert, JJ
Nihoul-Fekete, C
Saudubray, JM
Junien, C
Citation: Jc. Fournet et al., Loss of imprinted genes and paternal SUR1 mutations lead to focal form of congenital hyperinsulinism, HORMONE RES, 53, 2000, pp. 2-6
Authors:
Gonzalez, I
Ohsawa, N
Singer, RH
Devillers, M
Ashizawa, T
Balasubramanyam, A
Cooper, TA
Khajavi, M
Lia-Baldini, AS
Miller, G
Philips, AV
Timchenko, LT
Waring, J
Yamagata, H
Barbet, JP
Klesert, TR
Tapscott, SJ
Roses, AD
Wagner, M
Baiget, M
Martorell, L
Browne, GB
Eymard, B
Gourdon, G
Junien, C
Seznec, H
Carey, N
Gosling, M
Maire, P
Gennarelli, M
Sato, S
Ansved, T
Kvist, U
Eriksson, M
Furling, D
Chen, EJ
Housman, DE
Luciano, B
Siciliano, M
Spring, N
Shimizu, M
Eddy, E
Morris, GE
Krahe, R
Furuya, H
Adelman, J
Pribnow, D
Furutama, D
Mathieu, J
Hilton-Jones, D
Kinoshita, M
Abbruzzese, C
Sinden, RR
Wells, RD
Pearson, CE
Kobayashi, T
Johansson, A
Salvatori, S
Perryman, B
Swanson, MS
Gould, FK
Harris, SE
Johnson, K
Mitchell, AM
Monckton, DG
Winchester, CL
Antonini, G
Day, JW
Liquori, C
Ranum, LPW
Westerlaken, J
Wieringa, B
Griffith, JD
Michalowski, S
Moore, H
Hamshere, M
Korade, Z
Thornton, CA
Jaeger, H
Lehmann, F
Moorman, JR
Mounsey, JP
Mahadevan, MS
Citation: I. Gonzalez et al., New nomenclature and DNA testing guidelines for myotonic dystrophy type 1(DM1), NEUROLOGY, 54(6), 2000, pp. 1218-1221
Authors:
Lazarus, A
Varin, J
Ounnoughene, Z
Radvanyi, H
Junien, C
Coste, J
Laforet, P
Eymard, B
Becane, HM
Weber, S
Duboc, D
Citation: A. Lazarus et al., Sudden death in myotonic dystrophy: The potential role of bundle-branch reentry - Response, CIRCULATION, 101(5), 2000, pp. E73-E73
Authors:
Dereure, O
Savoy, D
Doz, F
Junien, C
Guilhou, JJ
Citation: O. Dereure et al., Multiple acral fibromas in a patient with familial retinoblastoma: a cutaneous marker of tumour-suppressor gene germline mutation?, BR J DERM, 143(4), 2000, pp. 856-859
Authors:
Glaser, B
Thornton, P
Otonkoski, T
Junien, C
Citation: B. Glaser et al., Genetics of neonatal hyperinsulinism, ARCH DIS CH, 82(2), 2000, pp. F79-F86
Authors:
Marquis, E
de Gouville, IL
Bouvattier, C
Robert, JJ
Junien, C
Charron, D
Hors, J
Diatloff-Zito, C
Citation: E. Marquis et al., HLA-DRB1 and DQB1 genotypes in patients with insulin-dependent neonatal diabetes mellitus. A study of 13 cases, TISSUE ANTI, 56(3), 2000, pp. 217-222
Authors:
de Lonlay-Debeney, P
Poggi-Travert, F
Fournet, JC
Sempoux, C
Vici, CD
Brunelle, F
Touati, G
Rahier, J
Junien, C
Nihoul-Fekete, C
Robert, JJ
Saudubray, JM
Citation: P. De Lonlay-debeney et al., Clinical features of 52 neonates with hyperinsulinism, N ENG J MED, 340(15), 1999, pp. 1169-1175
Authors:
Lazarus, A
Varin, J
Ounnoughene, Z
Radvanyi, H
Junien, C
Coste, J
Laforet, P
Eymard, B
Becane, HM
Weber, S
Duboc, D
Citation: A. Lazarus et al., Relationships among electrophysiological findings and clinical status, heart function, and extent of DNA mutation in myotonic dystrophy, CIRCULATION, 99(8), 1999, pp. 1041-1046
Authors:
Longuemaux, S
Delomenie, C
Gallou, C
Mejean, A
Vincent-Viry, M
Bouvier, R
Droz, D
Krishnamoorthy, R
Galteau, MM
Junien, C
Beroud, C
Dupret, JM
Citation: S. Longuemaux et al., Candidate genetic modifiers of individual susceptibility to renal cell carcinoma: A study of polymorphic human xenobiotic-metabolizing enzymes, CANCER RES, 59(12), 1999, pp. 2903-2908
Authors:
Collod-Beroud, G
Lackmy-Port-Lys, M
Jondeau, G
Mathieu, M
Maingourd, Y
Coulon, M
Guillotel, M
Junien, C
Boileau, C
Citation: G. Collod-beroud et al., Demonstration of the recurrence of Marfan-like skeletal and cardiovascularmanifestations due to germline mosaicism for an FBN1 mutation, AM J HU GEN, 65(3), 1999, pp. 917-921
Authors:
Varret, M
Rabes, JP
Saint-Jore, B
Cenarro, A
Marinoni, JC
Civeira, F
Devillers, M
Krempf, M
Coulon, M
Thiart, R
Kotze, MJ
Schmidt, H
Buzzi, JC
Kostner, GM
Bertolini, S
Pocovi, M
Rosa, A
Farnier, M
Martinez, M
Junien, C
Boileau, C
Citation: M. Varret et al., A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32, AM J HU GEN, 64(5), 1999, pp. 1378-1387