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Page 1
PPARγ Is Activated during Congenital Cytomegalovirus Infection and Inhibits Neuronogenesis from Human Neural Stem Cells.
Rolland M, Li X, Sellier Y, Martin H, Perez-Berezo T, Rauwel B, Benchoua A, Bessières B, Aziza J, Cenac N, Luo M, Casper C, Peschanski M, Gonzalez-Dunia D, Leruez-Ville M, Davrinche C, Chavanas S. Rolland M, et al. Among authors: aziza j. PLoS Pathog. 2016 Apr 14;12(4):e1005547. doi: 10.1371/journal.ppat.1005547. eCollection 2016 Apr. PLoS Pathog. 2016. PMID: 27078877 Free PMC article.
Human cytomegalovirus infection is associated with increased expression of the lissencephaly gene PAFAH1B1 encoding LIS1 in neural stem cells and congenitally infected brains.
Rolland M, Martin H, Bergamelli M, Sellier Y, Bessières B, Aziza J, Benchoua A, Leruez-Ville M, Gonzalez-Dunia D, Chavanas S. Rolland M, et al. Among authors: aziza j. J Pathol. 2021 May;254(1):92-102. doi: 10.1002/path.5640. Epub 2021 Mar 24. J Pathol. 2021. PMID: 33565082 Free article.
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
De Tomasi L, David P, Humbert C, Silbermann F, Arrondel C, Tores F, Fouquet S, Desgrange A, Niel O, Bole-Feysot C, Nitschké P, Roume J, Cordier MP, Pietrement C, Isidor B, Khau Van Kien P, Gonzales M, Saint-Frison MH, Martinovic J, Novo R, Piard J, Cabrol C, Verma IC, Puri R, Journel H, Aziza J, Gavard L, Said-Menthon MH, Heidet L, Saunier S, Jeanpierre C. De Tomasi L, et al. Among authors: aziza j. Am J Hum Genet. 2017 Nov 2;101(5):803-814. doi: 10.1016/j.ajhg.2017.09.026. Am J Hum Genet. 2017. PMID: 29100091 Free PMC article.
Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway.
Bourgon N, Carmignac V, Sorlin A, Duffourd Y, Philippe C, Thauvin-Robinet C, Guibaud L, Faivre L, Vabres P, Kuentz P; Collaborators. Bourgon N, et al. Ultrasound Obstet Gynecol. 2022 Apr;59(4):532-542. doi: 10.1002/uog.23715. Epub 2022 Mar 10. Ultrasound Obstet Gynecol. 2022. PMID: 34170046 Free article.
Severe placental lesions due to maternal SARS-CoV-2 infection associated to intrauterine fetal death.
Dubucs C, Groussolles M, Ousselin J, Sartor A, Van Acker N, Vayssière C, Pasquier C, Reyre J, Batlle L, Favarel Clinical Research Associate S, Duchanois Midwife D, Jauffret Clinical Research Associate V, Courtade-Saïdi M, Aziza J. Dubucs C, et al. Among authors: aziza j. Hum Pathol. 2022 Mar;121:46-55. doi: 10.1016/j.humpath.2021.12.012. Epub 2022 Jan 5. Hum Pathol. 2022. PMID: 34995674 Free PMC article.
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.
Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC. Gribouval O, et al. Among authors: aziza j. Nat Genet. 2005 Sep;37(9):964-8. doi: 10.1038/ng1623. Epub 2005 Aug 14. Nat Genet. 2005. PMID: 16116425
Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system.
Lacoste M, Cai Y, Guicharnaud L, Mounier F, Dumez Y, Bouvier R, Dijoud F, Gonzales M, Chatten J, Delezoide AL, Daniel L, Joubert M, Laurent N, Aziza J, Sellami T, Amar HB, Jarnet C, Frances AM, Daïkha-Dahmane F, Coulomb A, Neuhaus TJ, Foliguet B, Chenal P, Marcorelles P, Gasc JM, Corvol P, Gubler MC. Lacoste M, et al. Among authors: aziza j. J Am Soc Nephrol. 2006 Aug;17(8):2253-63. doi: 10.1681/ASN.2005121303. Epub 2006 Jun 21. J Am Soc Nephrol. 2006. PMID: 16790508
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
El Hokayem J, Huber C, Couvé A, Aziza J, Baujat G, Bouvier R, Cavalcanti DP, Collins FA, Cordier MP, Delezoide AL, Gonzales M, Johnson D, Le Merrer M, Levy-Mozziconacci A, Loget P, Martin-Coignard D, Martinovic J, Mortier GR, Perez MJ, Roume J, Scarano G, Munnich A, Cormier-Daire V. El Hokayem J, et al. Among authors: aziza j. J Med Genet. 2012 Apr;49(4):227-33. doi: 10.1136/jmedgenet-2011-100717. J Med Genet. 2012. PMID: 22499340
61 results