Piussan C - Search Results

1

Statistical approaches for the detection of heterozygotes for biotinidase deficiency.

Weissbecker KA, Nance WE, Eaves LJ, Piussan C, Wolf B. Weissbecker KA, et al. Among authors: piussan c. Am J Med Genet. 1991 Jun 15;39(4):385-90. doi: 10.1002/ajmg.1320390404. Am J Med Genet. 1991. PMID: 1877614

2

Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.

Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop GM, Monaco AP. Szepetowski P, et al. Among authors: piussan c. Am J Hum Genet. 1997 Oct;61(4):889-98. doi: 10.1086/514877. Am J Hum Genet. 1997. PMID: 9382100 Free PMC article.

3

Fragile X mutation and FG syndrome-like phenotype.

Piussan C, Mathieu M, Berquin P, Fryns JP. Piussan C, et al. Am J Med Genet. 1996 Aug 9;64(2):395-8. doi: 10.1002/(SICI)1096-8628(19960809)64:2<395::AID-AJMG32>3.0.CO;2-8. Am J Med Genet. 1996. PMID: 8844090

4

[Dubowitz syndrome. A diagnosis not to be missed].

Mathieu M, Berquin P, Epelbaum S, Lenaerts C, Piussan C. Mathieu M, et al. Among authors: piussan c. Arch Fr Pediatr. 1991 Dec;48(10):715-8. Arch Fr Pediatr. 1991. PMID: 1793348 French.

5

[Adrenoleukodystrophy: significance for genetic counseling of the determination of very long-chain fatty acids and of molecular biology].

Mathieu M, Aubourg P, Guidoux S, Epelbaum S, Benhamou P, Berquin P, Boudailliez B, Piussan C. Mathieu M, et al. Among authors: piussan c. Ann Pediatr (Paris). 1990 Mar;37(3):157-61. Ann Pediatr (Paris). 1990. PMID: 2350140 French.

6

Toward localization of the Werner syndrome gene by linkage disequilibrium and ancestral haplotyping: lessons learned from analysis of 35 chromosome 8p11.1-21.1 markers.

Goddard KA, Yu CE, Oshima J, Miki T, Nakura J, Piussan C, Martin GM, Schellenberg GD, Wijsman EM. Goddard KA, et al. Among authors: piussan c. Am J Hum Genet. 1996 Jun;58(6):1286-302. Am J Hum Genet. 1996. PMID: 8651307 Free PMC article.

7

Trichomegaly, pigmentary degeneration of the retina and growth disturbances. A probable autosomal recessive disorder.

Mathieu M, Goldfarb A, Berquin P, Boudailliez B, Labeille B, Piussan C. Mathieu M, et al. Among authors: piussan c. Genet Couns. 1991;2(2):115-8. Genet Couns. 1991. PMID: 1781955

8

Linkage disequilibrium and haplotype studies of chromosome 8p 11.1-21.1 markers and Werner syndrome.

Yu CE, Oshima J, Goddard KA, Miki T, Nakura J, Ogihara T, Poot M, Hoehn H, Fraccaro M, Piussan C, et al. Yu CE, et al. Among authors: piussan c. Am J Hum Genet. 1994 Aug;55(2):356-64. Am J Hum Genet. 1994. PMID: 8037212 Free PMC article.

9

The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).

Saugier-Veber P, Abadie V, Moncla A, Mathieu M, Piussan C, Turleau C, Mattei JF, Munnich A, Lyonnet S. Saugier-Veber P, et al. Among authors: piussan c. Am J Hum Genet. 1993 Jun;52(6):1040-5. Am J Hum Genet. 1993. PMID: 8503439 Free PMC article.

10

Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2.

Biancalana V, Briard ML, David A, Gilgenkrantz S, Kaplan J, Mathieu M, Piussan C, Poncin J, Schinzel A, Oudet C, et al. Biancalana V, et al. Among authors: piussan c. Am J Hum Genet. 1992 May;50(5):981-7. Am J Hum Genet. 1992. PMID: 1349200 Free PMC article.

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