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Page 1
Prenatal diagnosis of respiratory chain deficiency by direct mutation screening.
Amiel J, Gigarel N, Benacki A, Benit P, Valnot I, Parfait B, Von Kleist-Retzow JC, Raclin V, Hadj-Rabia S, Dumez Y, Rustin P, Bonnefont JP, Munnich A, Rötig A. Amiel J, et al. Among authors: gigarel n. Prenat Diagn. 2001 Jul;21(7):602-4. doi: 10.1002/pd.126. Prenat Diagn. 2001. PMID: 11494300
[Prenatal diagnosis of autosomal recessive polycystic kidney disease].
Gagnadoux MF, Attié T, Amiel J, Gigarel N, Bonnefont JP, Munnich A, Gubler MC, Antignac C. Gagnadoux MF, et al. Among authors: gigarel n. Arch Pediatr. 2000 Sep;7(9):942-7. doi: 10.1016/s0929-693x(00)90007-1. Arch Pediatr. 2000. PMID: 11028201 French.
A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders.
Steffann J, Monnot S, Magen M, Assouline Z, Gigarel N, Ville Y, Salomon L, Bessiere B, Martinovic J, Rötig A, Bengoa J, Borghèse R, Munnich A, Barcia G, Bonnefont JP. Steffann J, et al. Among authors: gigarel n. Genet Med. 2021 Apr;23(4):720-731. doi: 10.1038/s41436-020-01043-3. Epub 2020 Dec 11. Genet Med. 2021. PMID: 33303968 Free article.
Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development.
Bouchet C, Steffann J, Corcos J, Monnot S, Paquis V, Rötig A, Lebon S, Levy P, Royer G, Giurgea I, Gigarel N, Benachi A, Dumez Y, Munnich A, Bonnefont JP. Bouchet C, et al. Among authors: gigarel n. J Med Genet. 2006 Oct;43(10):788-92. doi: 10.1136/jmg.2005.034140. Epub 2006 May 11. J Med Genet. 2006. PMID: 16690729 Free PMC article.
Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders.
Vachin P, Adda-Herzog E, Chalouhi G, Elie C, Rio M, Rondeau S, Gigarel N, Jabot Hanin F, Monnot S, Borghese R, Bengoa J, Ville Y, Rotig A, Munnich A, Bonnefont JP, Steffann J. Vachin P, et al. Among authors: gigarel n. J Med Genet. 2018 Feb;55(2):131-136. doi: 10.1136/jmedgenet-2017-104615. Epub 2017 Jul 28. J Med Genet. 2018. PMID: 28754700
Prenatal diagnosis of cystic fibrosis.
Bonnefont JP, Thuillier L, Gigarel N, Rochette C, Briard ML, Munnich A. Bonnefont JP, et al. Among authors: gigarel n. Pediatr Pulmonol Suppl. 1997;16:63-4. doi: 10.1002/ppul.1950230834. Pediatr Pulmonol Suppl. 1997. PMID: 9443202 Review. No abstract available.
NDP gene mutations in 14 French families with Norrie disease.
Royer G, Hanein S, Raclin V, Gigarel N, Rozet JM, Munnich A, Steffann J, Dufier JL, Kaplan J, Bonnefont JP. Royer G, et al. Among authors: gigarel n. Hum Mutat. 2003 Dec;22(6):499. doi: 10.1002/humu.9204. Hum Mutat. 2003. PMID: 14635119
38 results