Paquis V - Search Results

1

Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain.

Chabrol B, Sigaudy S, Paquis V, Montfort MF, Giudicelli H, Pellissier JF, Millet V, Mancini J, Philip N. Chabrol B, et al. Among authors: paquis v. Am J Med Genet. 1997 Oct 17;72(2):222-6. doi: 10.1002/(sici)1096-8628(19971017)72:2<222::aid-ajmg18>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9382147

2

Cerebral infarction associated with Kearns-Sayre syndrome.

Chabrol B, Paquis V. Chabrol B, et al. Among authors: paquis v. Neurology. 1997 Jul;49(1):308. doi: 10.1212/wnl.49.1.308-b. Neurology. 1997. PMID: 9222217 No abstract available.

3

[Linkage studies in Emery-Dreifuss muscular dystrophy].

Paquis V, Philip N, Voelckel MA, Pouget J, Lemieux B, Mattei JF, Giraud F. Paquis V, et al. J Genet Hum. 1989 Jun;37(2):127-32. J Genet Hum. 1989. PMID: 2746171 French.

4

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: paquis v. 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.

5

Respiratory chain deficiency presenting as congenital nephrotic syndrome.

Goldenberg A, Ngoc LH, Thouret MC, Cormier-Daire V, Gagnadoux MF, Chrétien D, Lefrançois C, Geromel V, Rötig A, Rustin P, Munnich A, Paquis V, Antignac C, Gubler MC, Niaudet P, de Lonlay P, Bérard E. Goldenberg A, et al. Among authors: paquis v. Pediatr Nephrol. 2005 Apr;20(4):465-9. doi: 10.1007/s00467-004-1725-4. Epub 2005 Jan 29. Pediatr Nephrol. 2005. PMID: 15682315

6

Branchial dysplasia, mental deficiency, club feet, and inguinal herniae: a report of two further cases associated with paucity of interlobular bile ducts.

Lambert JC, Saint-Paul MC, Bastiani F, Paquis V, Saunieres AM. Lambert JC, et al. Among authors: paquis v. J Med Genet. 1990 May;27(5):330-2. doi: 10.1136/jmg.27.5.330. J Med Genet. 1990. PMID: 2352262 Free PMC article.

7

Macular pattern dystrophy associated with a mutation of mitochondrial DNA.

Massin P, Guillausseau PJ, Vialettes B, Paquis V, Orsini F, Grimaldi AD, Gaudric A. Massin P, et al. Among authors: paquis v. Am J Ophthalmol. 1995 Aug;120(2):247-8. doi: 10.1016/s0002-9394(14)72615-7. Am J Ophthalmol. 1995. PMID: 7639309

8

[Mitochondrial cytopathies: identification of responsible nuclear genes].

Paquis V. Paquis V. Arch Pediatr. 1996 Sep;3(9):915-6. doi: 10.1016/0929-693x(96)87585-3. Arch Pediatr. 1996. PMID: 8949357 Review. French. No abstract available.

9

[Infant coma in the emergency department: 2 cases of MCAD deficiency].

Hoflack M, Caruba C, Pitelet G, Haas H, Mas JC, Paquis V, Berard E. Hoflack M, et al. Among authors: paquis v. Arch Pediatr. 2010 Jul;17(7):1074-7. doi: 10.1016/j.arcped.2010.03.011. Arch Pediatr. 2010. PMID: 20434892 French.

10

[Expressivity of familial forms of Fraser syndrome].

Lambert JC, Touitou I, Paquis V, Saunières AM. Lambert JC, et al. Among authors: paquis v. J Genet Hum. 1989 Jun;37(2):119-26. J Genet Hum. 1989. PMID: 2545810 Review. French.

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