Journel H - Search Results

1

[An example of detection of heterozygotes and antenatal diagnosis in four families with anhidrotic ectodermal dysplasia].

Szpiro-Tapia S, Kaplan J, Pelet A, Guilloud-Bataille M, Heuertz S, Nivelon-Chevallier A, Mathieu M, Piussan C, Journel H, Dodinval P, et al. Szpiro-Tapia S, et al. Among authors: journel h. Ann Pediatr (Paris). 1990 Jan;37(1):13-9. Ann Pediatr (Paris). 1990. PMID: 2316957 French.

2

Contribution to carrier detection and genetic counselling in X linked retinoschisis.

Kaplan J, Pelet A, Hentati H, Jeanpierre M, Briard ML, Journel H, Munnich A, Dufier JL. Kaplan J, et al. Among authors: journel h. J Med Genet. 1991 Jun;28(6):383-8. doi: 10.1136/jmg.28.6.383. J Med Genet. 1991. PMID: 1678432 Free PMC article.

3

Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children).

Mathieu M, Piussan C, Thepot F, Gouget A, Lacombe D, Pedespan JM, Serville F, Fontan D, Ruffie M, Nivelon-Chevallier A, Amblard F, Chauveau P, Moirot H, Chabrolle JP, Croquette MF, Teyssier M, Plauchu H, Pelissier MC, Gilgenkrantz S, Turc-Carel C, Turleau C, Prieur M, Le Merrer M, Gonzales M, Journel H, et al. Mathieu M, et al. Among authors: journel h. Ann Genet. 1997;40(1):45-54. Ann Genet. 1997. PMID: 9150850

4

No evidence of genetic heterogeneity in dominant optic atrophy.

Bonneau D, Souied E, Gerber S, Rozet JM, D'Haens E, Journel H, Plessis G, Weissenbach J, Munnich A, Kaplan J. Bonneau D, et al. Among authors: journel h. J Med Genet. 1995 Dec;32(12):951-3. doi: 10.1136/jmg.32.12.951. J Med Genet. 1995. PMID: 8825922 Free PMC article.

5

Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH.

Andrieux J, Dubourg C, Rio M, Attie-Bitach T, Delaby E, Mathieu M, Journel H, Copin H, Blondeel E, Doco-Fenzy M, Landais E, Delobel B, Odent S, Manouvrier-Hanu S, Holder-Espinasse M. Andrieux J, et al. Among authors: journel h. Am J Med Genet A. 2009 Dec;149A(12):2813-9. doi: 10.1002/ajmg.a.33097. Am J Med Genet A. 2009. PMID: 19921647 Free PMC article.

6

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.

Blons H, Feldmann D, Duval V, Messaz O, Denoyelle F, Loundon N, Sergout-Allaoui A, Houang M, Duriez F, Lacombe D, Delobel B, Leman J, Catros H, Journel H, Drouin-Garraud V, Obstoy MF, Toutain A, Oden S, Toublanc JE, Couderc R, Petit C, Garabédian EN, Marlin S. Blons H, et al. Among authors: journel h. Clin Genet. 2004 Oct;66(4):333-40. doi: 10.1111/j.1399-0004.2004.00296.x. Clin Genet. 2004. PMID: 15355436

7

Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types.

Verloes A, Journel H, Elmer C, Misson JP, Le Merrer M, Kaplan J, Van Maldergem L, Deconinck H, Meire F. Verloes A, et al. Among authors: journel h. Am J Med Genet. 1993 Apr 15;46(2):132-7. doi: 10.1002/ajmg.1320460206. Am J Med Genet. 1993. PMID: 8484397 Review.

8

[Neural tube defects (spina bifida and anencephaly) in Brittany].

Journel H, Milon J, Dabadie A, Parent P, Roussey M, Le Marec B. Journel H, et al. Pediatrie. 1985 Sep;40(6):461-8. Pediatrie. 1985. PMID: 3915064 French.

9

Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France.

Lyonnet S, Melle D, de Braekeleer M, Laframboise R, Rey F, John SW, Berthelon M, Berthelot J, Journel H, Le Marec B, et al. Lyonnet S, et al. Among authors: journel h. Am J Hum Genet. 1992 Jul;51(1):191-6. Am J Hum Genet. 1992. PMID: 1609797 Free PMC article.

10

[Height and weight development and auxology in trisomy 21 in Brittany].

Journel H, Roussey M, Lucas J, Lemee F, Betremieux P, Parent P, Le Marec B. Journel H, et al. Ann Pediatr (Paris). 1986 Nov;33(9):801-6. Ann Pediatr (Paris). 1986. PMID: 2948439 French. No abstract available.

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