Mattei JF - Search Results

1

Transmission of mental retardation with fragile X site by two normal transmitter brothers.

Pellissier MC, Voelckel MA, Piquet C, Mattei MG, Mattei JF. Pellissier MC, et al. Among authors: mattei mg, mattei jf. Am J Med Genet. 1991 Feb-Mar;38(2-3):367-9. doi: 10.1002/ajmg.1320380241. Am J Med Genet. 1991. PMID: 1673312 No abstract available.

2

[Fragile X syndrome: current knowledge].

Pellissier MC, Voelckel MA, Mattei JF. Pellissier MC, et al. Among authors: mattei jf. Pediatrie. 1992;47(11):743-50. Pediatrie. 1992. PMID: 1364151 Review. French.

3

Fragile X syndrome in an extended family with special reference to an affected male with Klinefelter syndrome.

Voelckel MA, Pellissier MC, Piquet C, N'Guyen C, Boccaccio I, Philip N, Mattei JF. Voelckel MA, et al. Among authors: mattei jf. Am J Med Genet. 1991 Feb-Mar;38(2-3):374-7. doi: 10.1002/ajmg.1320380243. Am J Med Genet. 1991. PMID: 1673314

4

Study of a family with a fragile site of the X chromosome at Xq27-28 without mental retardation.

Voelckel MA, Philip N, Piquet C, Pellissier MC, Oberlé I, Birg F, Mattei MG, Mattei JF. Voelckel MA, et al. Among authors: mattei mg, mattei jf. Hum Genet. 1989 Mar;81(4):353-7. doi: 10.1007/BF00283690. Hum Genet. 1989. PMID: 2564838

5

Cytogenetic and physical mapping in the region of the X chromosome surrounding the fragile site.

Nguyen C, Mattei MG, Rey JA, Baeteman MA, Mattei JF, Jordan BR. Nguyen C, et al. Among authors: mattei mg, mattei jf. Am J Med Genet. 1988 May-Jun;30(1-2):601-11. doi: 10.1002/ajmg.1320300161. Am J Med Genet. 1988. PMID: 2902799

6

Dissociation between mental retardation and fragile site expression in a family with fragile X-linked mental retardation.

Voelckel MA, Mattei MG, N'Guyen C, Philip N, Birg F, Mattei JF. Voelckel MA, et al. Among authors: mattei mg, mattei jf. Hum Genet. 1988 Dec;80(4):375-8. doi: 10.1007/BF00273654. Hum Genet. 1988. PMID: 2904402

7

Unexpected inheritance of the (CGG)n trinucleotide expansion in a fragile X syndrome family.

Malzac P, Biancalana V, Voelckel MA, Moncla A, Pellissier MC, Boccaccio I, Mattei JF. Malzac P, et al. Among authors: mattei jf. Eur J Hum Genet. 1996;4(1):8-12. doi: 10.1159/000472163. Eur J Hum Genet. 1996. PMID: 8800930

8

Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling.

Moncla A, Malzac P, Livet MO, Voelckel MA, Mancini J, Delaroziere JC, Philip N, Mattei JF. Moncla A, et al. Among authors: mattei jf. J Med Genet. 1999 Jul;36(7):554-60. J Med Genet. 1999. PMID: 10424818 Free PMC article.

9

Physical mapping of an Xq-proximal interstitial duplication in a male.

Muscatelli F, Verna JM, Philip N, Moncla A, Mattei MG, Mattei JF, Fontes M. Muscatelli F, et al. Among authors: mattei mg, mattei jf. Hum Genet. 1992 Mar;88(6):691-4. doi: 10.1007/BF02265299. Hum Genet. 1992. PMID: 1551675

10

Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.

Moncla A, Livet MO, Auger M, Mattei JF, Mattei MG, Giraud F. Moncla A, et al. Among authors: mattei mg, mattei jf. J Med Genet. 1991 Sep;28(9):627-32. doi: 10.1136/jmg.28.9.627. J Med Genet. 1991. PMID: 1956064 Free PMC article. Review.

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