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229 results

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Page 1
Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome.
Steffann J, Gigarel N, Corcos J, Bonnière M, Encha-Razavi F, Sinico M, Prevot S, Dumez Y, Yamgnane A, Frydman R, Munnich A, Bonnefont JP. Steffann J, et al. Among authors: bonnefont jp. J Med Genet. 2007 Oct;44(10):664-9. doi: 10.1136/jmg.2006.048553. Epub 2007 Jun 1. J Med Genet. 2007. PMID: 17545557 Free PMC article.
Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome.
Rotig A, Colonna M, Bonnefont JP, Blanche S, Fischer A, Saudubray JM, Munnich A. Rotig A, et al. Among authors: bonnefont jp. Lancet. 1989 Apr 22;1(8643):902-3. doi: 10.1016/s0140-6736(89)92897-3. Lancet. 1989. PMID: 2564980 No abstract available.
[Rise of genetics: what are the benefits for children?].
Lyonnet S, Bonnefont JP, Briard ML, Munnich A. Lyonnet S, et al. Among authors: bonnefont jp. Arch Pediatr. 1996;3 Suppl 1:347s-349s. doi: 10.1016/0929-693x(96)86100-8. Arch Pediatr. 1996. PMID: 8796075 French. No abstract available.
Clinical presentation of mitochondrial disorders in childhood.
Munnich A, Rötig A, Chretien D, Cormier V, Bourgeron T, Bonnefont JP, Saudubray JM, Rustin P. Munnich A, et al. Among authors: bonnefont jp. J Inherit Metab Dis. 1996;19(4):521-7. doi: 10.1007/BF01799112. J Inherit Metab Dis. 1996. PMID: 8884575 Review.
Mitochondrial diabetes mellitus.
Rötig A, Bonnefont JP, Munnich A. Rötig A, et al. Among authors: bonnefont jp. Diabetes Metab. 1996 Oct;22(5):291-8. Diabetes Metab. 1996. PMID: 8896989 Review.
[Advances in genetics: what benefits children?].
Lyonnet S, Bonnefont JP, Briard ML, Munnich A. Lyonnet S, et al. Among authors: bonnefont jp. Presse Med. 1996 Nov 2;25(33):1575-6. Presse Med. 1996. PMID: 8952670 French.
[Mitochondrial diabetes].
Rötig A, Bonnefont JP, Munnich A. Rötig A, et al. Among authors: bonnefont jp. Journ Annu Diabetol Hotel Dieu. 1997:33-42. Journ Annu Diabetol Hotel Dieu. 1997. PMID: 9296988 Review. French. No abstract available.
Prenatal diagnosis of cystic fibrosis.
Bonnefont JP, Thuillier L, Gigarel N, Rochette C, Briard ML, Munnich A. Bonnefont JP, et al. Pediatr Pulmonol Suppl. 1997;16:63-4. doi: 10.1002/ppul.1950230834. Pediatr Pulmonol Suppl. 1997. PMID: 9443202 Review. No abstract available.
229 results