Year |
Citation |
Score |
2019 |
Baron M, Maillet J, Huyvaert M, Dechaume A, Boutry R, Loiselle H, Durand E, Toussaint B, Vaillant E, Philippe J, Thomas J, Ghulam A, Franc S, Charpentier G, Borys JM, et al. Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension. Nature Medicine. PMID 31700171 DOI: 10.1038/S41591-019-0622-0 |
0.658 |
|
2019 |
Lee MS, Philippe J, Katsanis N, Zhou W. Polyketide Synthase Plays a Conserved Role in Otolith Formation. Zebrafish. PMID 31188077 DOI: 10.1089/Zeb.2019.1734 |
0.323 |
|
2017 |
Hancili S, Bonnefond A, Philippe J, Vaillant E, De Graeve F, Sand O, Busiah K, Robert JJ, Polak M, Froguel P, Güven A, Vaxillaire M. A novel NEUROG3 mutation in neonatal diabetes associated with a neuro-intestinal syndrome. Pediatric Diabetes. PMID 28940958 DOI: 10.1111/Pedi.12576 |
0.699 |
|
2017 |
Saeed S, Bonnefond A, Manzoor J, Shabbir F, Ayesha H, Philippe J, Durand E, Crouch H, Sand O, Ali M, Butt T, Rathore AW, Falchi M, Arslan M, Froguel P. Erratum: Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population. Obesity (Silver Spring, Md.). 25: 807. PMID 28349664 DOI: 10.1002/oby.21803 |
0.589 |
|
2017 |
Frosk P, Arts HH, Philippe J, Gunn CS, Brown EL, Chodirker B, Simard L, Majewski J, Fahiminiya S, Russell C, Liu YP, Hegele R, Katsanis N, et al. A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. Journal of Medical Genetics. PMID 28264986 DOI: 10.1136/Jmedgenet-2016-104296 |
0.311 |
|
2015 |
Philippe J, Derhourhi M, Durand E, Vaillant E, Dechaume A, Rabearivelo I, Dhennin V, Vaxillaire M, De Graeve F, Sand O, Froguel P, Bonnefond A. What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity? Plos One. 10: e0143373. PMID 26599467 DOI: 10.1371/Journal.Pone.0143373 |
0.655 |
|
2015 |
Saeed S, Bonnefond A, Manzoor J, Shabir F, Ayesha H, Philippe J, Durand E, Crouch H, Sand O, Ali M, Butt T, Rathore AW, Falchi M, Arslan M, Froguel P. Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population. Obesity (Silver Spring, Md.). 23: 1687-95. PMID 26179253 DOI: 10.1002/Oby.21142 |
0.669 |
|
2015 |
Philippe J, Stijnen P, Meyre D, De Graeve F, Thuillier D, Delplanque J, Gyapay G, Sand O, Creemers JW, Froguel P, Bonnefond A. A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity. International Journal of Obesity (2005). 39: 295-302. PMID 24890885 DOI: 10.1038/Ijo.2014.96 |
0.729 |
|
2015 |
Vaxillaire M, Bonnefond A, Philippe J, Vaillant E, Durand E, Sand O, Busiah K, Scharfmann R, Hafez M, Hancili S, Polak M, Froguel P. O59 Identification de nouvelles mutations associées au diabète néonatal grâce à l’utilisation de techniques (pan) génomiques incluant le séquençage de nouvelle génération Diabetes & Metabolism. 41. DOI: 10.1016/S1262-3636(15)30059-8 |
0.591 |
|
2014 |
Saeed S, Bonnefond A, Manzoor J, Philippe J, Durand E, Arshad M, Sand O, Butt TA, Falchi M, Arslan M, Froguel P. Novel LEPR mutations in obese Pakistani children identified by PCR-based enrichment and next generation sequencing. Obesity (Silver Spring, Md.). 22: 1112-7. PMID 24319006 DOI: 10.1002/Oby.20667 |
0.666 |
|
2014 |
Bonnefond A, Philippe J, Durand E, Muller J, Saeed S, Arslan M, MartÃnez R, De Graeve F, Dhennin V, Rabearivelo I, Polak M, Cavé H, Castaño L, Vaxillaire M, Mandel JL, et al. Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing. Diabetes Care. 37: 460-7. PMID 24041679 DOI: 10.2337/Dc13-0698 |
0.651 |
|
2014 |
Bonnefond A, Saeed S, Manzoor J, Philippe J, Durand E, Sand O, Butt T, Falchi M, Arslan M, Froguel P. PO13 Identification par séquençage de nouvelle génération de deux nouvelles mutations situées dans LEPR, chez des enfants pakistanais avec une obésité sévère et issus de familles consanguines Diabetes & Metabolism. 40. DOI: 10.1016/S1262-3636(14)72271-2 |
0.645 |
|
2013 |
Bonnefond A, Vaillant E, Philippe J, Skrobek B, Lobbens S, Yengo L, Huyvaert M, Cavé H, Busiah K, Scharfmann R, Polak M, Abdul-Rasoul M, Froguel P, Vaxillaire M. Transcription factor gene MNX1 is a novel cause of permanent neonatal diabetes in a consanguineous family. Diabetes & Metabolism. 39: 276-80. PMID 23562494 DOI: 10.1016/J.Diabet.2013.02.007 |
0.691 |
|
2013 |
Bonnefond A, Yengo L, Philippe J, Dechaume A, Ezzidi I, Vaillant E, Gjesing AP, Andersson EA, Czernichow S, Hercberg S, Hadjadj S, Charpentier G, Lantieri O, Balkau B, Marre M, et al. Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes. Diabetologia. 56: 492-6. PMID 23224494 DOI: 10.1007/S00125-012-2794-8 |
0.686 |
|
2013 |
Philippe J, Durand E, Vaxillaire M, Sand O, De Graeve F, Cavé H, Polak M, Martínez Salazar R, Castano L, Muller J, Mandel J, Saeed S, Bonnefond A, Froguel P. PO27 Diagnostic moléculaire simultané de 43 formes monogéniques de diabète et d’obésité : un pas vers la médecine métabolique Personnalisée Diabetes & Metabolism. 39: A27. DOI: 10.1016/S1262-3636(13)71723-3 |
0.584 |
|
2012 |
Amara A, Chadli-Chaieb M, Ghezaiel H, Philippe J, Brahem R, Dechaume A, Saad A, Chaieb L, Froguel P, Froguele P, Gribaa M, Vaxillaire M. Familial early-onset diabetes is not a typical MODY in several Tunisian patients. La Tunisie Mã©Dicale. 90: 882-7. PMID 23247789 |
0.469 |
|
2012 |
Bonnefond A, Philippe J, Durand E, Dechaume A, Huyvaert M, Montagne L, Marre M, Balkau B, Fajardy I, Vambergue A, Vatin V, Delplanque J, Le Guilcher D, De Graeve F, Lecoeur C, et al. Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene. Plos One. 7: e37423. PMID 22701567 DOI: 10.1371/Journal.Pone.0037423 |
0.727 |
|
2012 |
Boutant M, Ramos OH, Lecoeur C, Vaillant E, Philippe J, Zhang P, Perilhou A, Valcarcel B, Sebert S, Jarvelin MR, Balkau B, Scott D, Froguel P, Vaxillaire M, Vasseur-Cognet M. Glucose-dependent regulation of NR2F2 promoter and influence of SNP-rs3743462 on whole body insulin sensitivity. Plos One. 7: e35810. PMID 22606236 DOI: 10.1371/Journal.Pone.0035810 |
0.437 |
|
2012 |
Riveline JP, Rousseau E, Reznik Y, Fetita S, Philippe J, Dechaume A, Hartemann A, Polak M, Petit C, Charpentier G, Gautier JF, Froguel P, Vaxillaire M. Clinical and metabolic features of adult-onset diabetes caused by ABCC8 mutations. Diabetes Care. 35: 248-51. PMID 22210575 DOI: 10.2337/Dc11-1469 |
0.554 |
|
2012 |
Vaxillaire M, Bonnefond A, Philippe J, Durand E, Dechaume A, Vaillant E, Montagne L, Huyvaert M, Lecoeur C, Graeve FD, Sand O, Froguel P. O58 Une nouvelle cause curable de MODY et de DT2 de l’adulte jeune révélée par une mutation de KCNJ11, codant la sous-unité Kir6.2 du canal potassique ATP-dépendant Diabetes & Metabolism. 38. DOI: 10.1016/S1262-3636(12)71036-4 |
0.647 |
|
2011 |
Semplici F, Vaxillaire M, Fogarty S, Semache M, Bonnefond A, Fontés G, Philippe J, Meur G, Diraison F, Sessions RB, Rutter J, Poitout V, Froguel P, Rutter GA. Human mutation within Per-Arnt-Sim (PAS) domain-containing protein kinase (PASK) causes basal insulin hypersecretion. The Journal of Biological Chemistry. 286: 44005-14. PMID 22065581 DOI: 10.1074/Jbc.M111.254995 |
0.652 |
|
2011 |
Amara A, Ghezail H, Brahem R, Gribaa M, Philippe J, Dechaume A, Saad A, Chadli-Chaieb M, Chaieb L, Froguel P, Vaxillaire M. P126 - Absence de mutations des gènes HNF1A, HNF4A et INS chez dix patients tunisiens avec un diabète de type MODY Diabetes & Metabolism. 37. DOI: 10.1016/S1262-3636(11)70752-2 |
0.533 |
|
2004 |
Gevrey JC, Malapel M, Philippe J, Mithieux G, Chayvialle JA, Abello J, Cordier-Bussat M. Protein hydrolysates stimulate proglucagon gene transcription in intestinal endocrine cells via two elements related to cyclic AMP response element. Diabetologia. 47: 926-36. PMID 15085339 DOI: 10.1007/S00125-004-1380-0 |
0.308 |
|
2001 |
Guenat E, Seematter G, Philippe J, Temler E, Jequier E, Tappy L. Counterregulatory responses to hypoglycemia in patients with maturity-onset diabetes of the young caused by HNF-1alpha gene mutations (MODY3) European Journal of Endocrinology. 144: 45-49. PMID 11174836 DOI: 10.1530/Eje.0.1440045 |
0.366 |
|
1999 |
Melander A, Olsson J, Lindberg G, Salzman A, Howard T, Stang P, Lydick E, Emslie-Smith A, Boyle DI, Evans JM, Macdonald TM, Bain J, Sullivan F, Juhl C, ... ... Philippe J, et al. 35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September-2 October 1999. Diabetologia. 42: A1-A330. PMID 27770183 DOI: 10.1007/Bf03375458 |
0.336 |
|
1999 |
Vaxillaire M, Pueyo M, Clement K, Fiet J, Timsit J, Philippe J, Robert J, Tappy L, Froguel P, Velho G. Insulin secretion and insulin sensitivity in diabetic and non-diabetic subjects with hepatic nuclear factor-1alpha (maturity-onset diabetes of the young-3) mutations. European Journal of Endocrinology. 141: 609-618. PMID 10601964 DOI: 10.1530/Eje.0.1410609 |
0.498 |
|
1998 |
Surmely JF, Guenat E, Philippe J, Dussoix P, Schneiter P, Temler E, Vaxillaire M, Froguel P, Jéquier E, Tappy L. Glucose utilization and production in patients with maturity-onset diabetes of the young caused by a mutation of the hepatocyte nuclear factor-1alpha gene. Diabetes. 47: 1459-1463. PMID 9726235 DOI: 10.2337/Diabetes.47.9.1459 |
0.384 |
|
1997 |
Vaxillaire M, Rouard M, Yamagata K, Oda N, Kaisaki PJ, Boriraj VV, Chevre JC, Boccio V, Cox RD, Lathrop GM, Dussoix P, Philippe J, Timsit J, Charpentier G, Velho G, et al. Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3) Human Molecular Genetics. 6: 583-586. PMID 9097962 DOI: 10.1093/Hmg/6.4.583 |
0.541 |
|
1997 |
Dussoix P, Vaxillaire M, Iynedjian PB, Tiercy J, Ruiz J, Spinas GA, Berger W, Zahnd G, Froguel P, Philippe J. Diagnostic Heterogeneity of Diabetes in Lean Young Adults: Classification Based on Immunological and Genetic Parameters Diabetes. 46: 622-631. PMID 9075802 DOI: 10.2337/Diab.46.4.622 |
0.477 |
|
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