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Professor jacques Rochette
Professor jacques Rochette
Université de Picardie Jules Verne
Verified email at usa.net
Title
Cited by
Cited by
Year
Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16
P Szepetowski, J Rochette, P Berquin, C Piussan, GM Lathrop, ...
The American Journal of Human Genetics 61 (4), 889-898, 1997
3901997
Geography of HFE C282Y and H63D Mutations
AT Merryweather-Clarke, JJ Pointon, AM Jouanolle, J Rochette, ...
Genetic testing 4 (2), 183-198, 2000
3882000
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis
AT Merryweather-Clarke, E Cadet, A Bomford, D Capron, V Viprakasit, ...
Human molecular genetics 12 (17), 2241-2247, 2003
3172003
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions
HY Lee, Y Huang, N Bruneau, P Roll, EDO Roberson, M Hermann, ...
Cell reports 1 (1), 2-12, 2012
2952012
Rapid analysis of ‐α3.7 thalassaemia and αααanti 3.7 triplication by enzymatic amplification analysis
C Dodé, R Krishnamoorthy, J Lamb, J Rochette
British journal of haematology 83 (1), 105-111, 1993
2471993
PPARα inhibits vascular smooth muscle cell proliferation underlying intimal hyperplasia by inducing the tumor suppressor p16INK4a
F Gizard, C Amant, O Barbier, S Bellosta, R Robillard, F Percevault, ...
The Journal of clinical investigation 115 (11), 3228-3238, 2005
2212005
Synthesis, Antimalarial Activity, and Molecular Modeling of New Pyrrolo[1,2-a]quinoxalines, Bispyrrolo[1,2-a]quinoxalines, Bispyrido[3,2-e]pyrrolo[1,2-a]pyrazines, and Bispyrrolo[1,2 …
J Guillon, P Grellier, M Labaied, P Sonnet, JM Léger, R Déprez-Poulain, ...
Journal of medicinal chemistry 47 (8), 1997-2009, 2004
2052004
Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approach
JE Craig, J Rochette, CA Fisher, DJ Weatherall, S Marc, GM Lathrop, ...
Nature genetics 12 (1), 58-64, 1996
2021996
Fetal hemoglobin levels in adults
J Rochette, JE Craig, SL Thein
Blood reviews 8 (4), 213-224, 1994
2001994
Multicentric origin of hemochromatosis gene (HFE) mutations
J Rochette, JJ Pointon, CA Fisher, G Perera, M Arambepola, DSK Arichchi, ...
The American Journal of Human Genetics 64 (4), 1056-1062, 1999
1961999
Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome
R Caraballo, S Pavek, A Lemainque, M Gastaldi, B Echenne, J Motte, ...
The American Journal of Human Genetics 68 (3), 788-794, 2001
1812001
Locus assignment of human a globin mutations by selective amplification and direct sequencing
C Dodé, JR And, R Krishnamoorthy
British Journal of Haematology 76 (2), 275-281, 1990
1671990
Gain‐of‐function mutation in STIM1 (P. R304W) is associated with Stormorken syndrome
G Morin, NO Bruechle, AR Singh, C Knopp, G Jedraszak, M Elbracht, ...
Human mutation 35 (10), 1221-1232, 2014
1262014
Detection of a major gene for heterocellular hereditary persistence of fetal hemoglobin after accounting for genetic modifiers.
SL Thein, M Sampietro, K Rohde, J Rochette, DJ Weatherall, GM Lathrop, ...
American journal of human genetics 54 (2), 214, 1994
1111994
PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine
R Cloarec, N Bruneau, G Rudolf, A Massacrier, M Salmi, M Bataillard, ...
Neurology 79 (21), 2097-2103, 2012
1022012
Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload
AM Jouanolle, V Douabin-Gicquel, C Halimi, O Loréal, P Fergelot, ...
Journal of hepatology 39 (2), 286-289, 2003
1012003
Born to clot: the European burden
DC Rees, NH Chapman, MT Webster, JF Guerreiro, J Rochette, JB Clegg
British journal of haematology 105 (2), 564-566, 1999
991999
Recent advances in understanding haemochromatosis: a transition state
KJH Robson, AT Merryweather-Clarke, E Cadet, V Viprakasit, MG Zaahl, ...
Journal of medical genetics 41 (10), 721-730, 2004
892004
Severe phenotypic spectrum of biallelic mutations in PRRT2 gene
M Delcourt, F Riant, J Mancini, M Milh, V Navarro, E Roze, ...
Journal of Neurology, Neurosurgery & Psychiatry 86 (7), 782-785, 2015
802015
Chromosomal Stabilisation by a Subtelomeric Rearrangement Involving Two Closely Related Alu Elements
J Flint, J Rochette, CF Craddock, C Dode, B Vignes, SW Horsley, ...
Human molecular genetics 5 (8), 1163-1169, 1996
801996
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