A GIF 290 T> C unfrequent polymorphism in inherited intrinsic factor deficiency C Chery, C Bessau, N Pascal, F Namour, A Morali, P Bordigoni, F Feillet, ... JOURNAL OF INHERITED METABOLIC DISEASE 29, 78, 2006 | | 2006 |
A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients JL Guéant, C Chéry, A Oussalah, J Nadaf, D Coelho, T Josse, J Flayac, ... Nature communications 9 (1), 67, 2018 | 87 | 2018 |
A splicing variant leads to complete loss of function of betaine–homocysteine methyltransferase (BHMT) gene in hepatocellular carcinoma H Pellanda, F Namour, A Bressenot, JM Alberto, C Chéry, A Ayav, ... The international journal of biochemistry & cell biology 44 (2), 385-392, 2012 | 52 | 2012 |
A transgenerational MMACHC epimutation illustrates a new mechanism of inborn errors of metabolism named epi-cbIC JL Gueant, C Chery, A Oussalah, JP Nicolas, J Majewski, DS Rosenblatt BULLETIN DE L ACADEMIE NATIONALE DE MEDECINE 202 (7), 1585-1595, 2018 | | 2018 |
Allergy to betalactams and nucleotide‐binding oligomerization domain (NOD) gene polymorphisms AC Bursztejn, A Romano, RM Guéant‐Rodriguez, JA Cornejo, ... Allergy 68 (8), 1076-1080, 2013 | 29 | 2013 |
Anchoring secreted proteins in endoplasmic reticulum by plant oleosin: the example of vitamin B12 cellular sequestration by transcobalamin L Pons, SF Battaglia-Hsu, CE Orozco-Barrios, S Ortiou, C Chery, ... PloS one 4 (7), 2009 | 20 | 2009 |
Association of combined GIF290T>C heterozygous mutation/FUT2 secretor variant with neural tube defects RM Guéant‐Rodriguez, C Chery, BM Caillierez‐Fofou, J Voirin, B Foliguet, ... Clinical Genetics 93 (1), 191-193, 2018 | 4 | 2018 |
Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency G Bidla, D Watkins, C Chéry, DS Froese, C Ells, M Kerachian, A Saskin, ... Molecular Genetics and Metabolism 130 (3), 179-182, 2020 | 13 | 2020 |
BIOPKUdb and molecular genetics of BH4-responsive phenylketonuria M Zurflueh, J Zschocke, M Lindner, F Feillet, C Chery, A Burlina, B Thoeny, ... JOURNAL OF INHERITED METABOLIC DISEASE 30, 16-16, 2007 | | 2007 |
BRIP1 coding variants are associated with a high risk of hepatocellular carcinoma occurrence in patients with HCV-or HBV-related liver disease A Oussalah, PH Avogbe, E Guyot, C Chery, RM Guéant-Rodriguez, ... Oncotarget 8 (38), 62842, 2017 | 15 | 2017 |
Cubilin and mac2-binding protein are two interacting proteins involved in intrinsic factor-cobalamin binding defects of Grasbeck-Imerslund syndrome C Chery, JL Gueant, V Regnault, H Leffler, T Pillot, G Sinha, M Caswell, ... Gastroenterology 4 (124), A264, 2003 | | 2003 |
Cubilin and the hydrophobic intrinsic factor receptor are distinct molecules JL Guéant, C Chéry, F Namour Blood, The Journal of the American Society of Hematology 97 (10), 3316-3318, 2001 | 9 | 2001 |
Cystathionine β-synthase genetic variant rs2124459 is associated with a reduced risk of cleft palate in French and Belgian populations L Goffinet, A Oussalah, RM Guéant-Rodriguez, C Chery, M Basha, ... Journal of Medical Genetics 53 (12), 828-834, 2016 | 6 | 2016 |
Decreased affinity of urinary intrinsic factor–cobalamin receptor in a case of Gräsbeck–Imerslund syndrome JL Guéant, C Chery, F Namour, I Aimone-Gastin, M Wustinger Gastroenterology 116 (5), 1274-1275, 1999 | 9 | 1999 |
Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study JP Mergnac, A Wiedemann, C Chery, JM Ravel, F Namour, JL Guéant, ... Human genetics, 1-10, 2022 | 15 | 2022 |
Efficacy of BH4 treatment in a typical PKU after neonatal BH4 loading test: 20 months of follow up F Feillet, E Favre, E Lorentz, C Chery, F Namour, JL Gueant JOURNAL OF INHERITED METABOLIC DISEASE 29, 93-93, 2006 | | 2006 |
Elastase and exacerbation of neutrophil innate immunity are involved in multi‐visceral manifestations of COVID‐19 JL Guéant, RM Guéant‐Rodriguez, J Fromonot, A Oussalah, H Louis, ... Allergy 76 (6), 1846-1858, 2021 | 79 | 2021 |
Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes JL Guéant, Y Siblini, C Chéry, G Schmitt, RM Guéant-Rodriguez, ... Human genetics 141 (7), 1309-1325, 2022 | 10 | 2022 |
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12 A Oussalah, Y Siblini, S Hergalant, C Chéry, P Rouyer, C Cavicchi, ... Clinical epigenetics 14 (1), 52, 2022 | 12 | 2022 |
Evaluation of BH4 loading test after neonatalscreening for hyper phenylalaninemia F Feillet, E Lorentz, C Chery, E Favre, F Namour, JL Gueant JOURNAL OF INHERITED METABOLIC DISEASE 29, 93-93, 2006 | | 2006 |