Joannard A - Search Results

1

So-called 'cryptogenic' partial seizures resulting from a subtle cortical dysgenesis due to a doublecortin gene mutation.

des Portes V, Abaoub L, Joannard A, Souville I, Francis F, Pinard JM, Chelly J, Beldjord C, Jouk PS. des Portes V, et al. Among authors: joannard a. Seizure. 2002 Jun;11(4):273-7. doi: 10.1053/seiz.2001.0607. Seizure. 2002. PMID: 12027577 Free article.

2

[Prenatal diagnosis of mucoviscidosis: indication of enzyme determination and molecular biology techniques].

Jouk PS, Monnier N, Bernard-Guelle F, Lunardi J, Joannard A, Chambaz E, Jalbert P. Jouk PS, et al. Among authors: joannard a. Pediatrie. 1992;47(3):201-5. Pediatrie. 1992. PMID: 1351669 French.

3

[Bourneville's tuberous sclerosis of neonatal disclosure. Apropos of 2 cases].

Guyot A, Jouk PS, Andrini P, Rossignol AM, Joannard A, Beaudoing A. Guyot A, et al. Among authors: joannard a. Pediatrie. 1985 Dec;40(8):633-8. Pediatrie. 1985. PMID: 3914632 French.

4

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.

Satre V, Monnier N, Berthoin F, Ayuso C, Joannard A, Jouk PS, Lopez-Pajares I, Megabarne A, Philippe HJ, Plauchu H, Torres ML, Lunardi J. Satre V, et al. Among authors: joannard a. Am J Hum Genet. 1999 Jul;65(1):68-76. doi: 10.1086/302443. Am J Hum Genet. 1999. PMID: 10364518 Free PMC article.

5

[Angelman syndrome and severe vagal hypertonia. Three pediatric case reports].

Douchin S, Do-Ngoc D, Rossignol AM, Lucet V, Joannard A, Jouk PS. Douchin S, et al. Among authors: joannard a. Arch Mal Coeur Vaiss. 2000 May;93(5):559-63. Arch Mal Coeur Vaiss. 2000. PMID: 10858853 French.

6

[Kleine-Levin syndrome].

Plasse M, Joannard A, Maynard R, Jouk PS, Gilly R, Beaudoing A. Plasse M, et al. Among authors: joannard a. Pediatrie. 1982 Dec;37(8):601-5. Pediatrie. 1982. PMID: 6963630 French. No abstract available.

7

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis.

Feldmann D, Denoyelle F, Chauvin P, Garabédian EN, Couderc R, Odent S, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Le Maréchal C, Dollfus H, Eliot MM, Delaunoy JP, David A, Calais C, Drouin-Garraud V, Obstoy MF, Bouccara D, Sterkers O, Huy PT, Goizet C, Duriez F, Fellmann F, Hélias J, Vigneron J, Montaut B, Lewin P, Petit C, Marlin S. Feldmann D, et al. Among authors: joannard a. Am J Med Genet A. 2004 Jun 15;127A(3):263-7. doi: 10.1002/ajmg.a.20588. Am J Med Genet A. 2004. PMID: 15150777

8

[Masculin phenotype in a child with a predominant 46, XX clone].

Malka J, Dieterlen M, Hadjian AJ, Joannard A, Bost M, Jalbert P. Malka J, et al. Among authors: joannard a. Pediatrie. 1975 Jan-Feb;30(1):73-6. Pediatrie. 1975. PMID: 1129020 French. No abstract available.

9

[Willi-Prader-Labhardt's syndrome. Apropos of 2 cases].

Bost M, Dieterlen M, Hadjian AJ, Joannard A, Jalbert P, Beaudoing A. Bost M, et al. Among authors: joannard a. Pediatrie. 1974 Apr-May;29(3):291-6. Pediatrie. 1974. PMID: 4438036 French. No abstract available.

10

[Giant axonal neuropathy. Apropos of a case].

Guyot A, Joannard A, Vila A, Stoebner P, Beaudoing A. Guyot A, et al. Among authors: joannard a. Pediatrie. 1985 Jul-Aug;40(5):393-7. Pediatrie. 1985. PMID: 3001634 French.

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