Mathieu M - Search Results

1

Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.

Collod-Béroud G, Lackmy-Port-Lys M, Jondeau G, Mathieu M, Maingourd Y, Coulon M, Guillotel M, Junien C, Boileau C. Collod-Béroud G, et al. Among authors: mathieu m. Am J Hum Genet. 1999 Sep;65(3):917-21. doi: 10.1086/302545. Am J Hum Genet. 1999. PMID: 10441597 Free PMC article. No abstract available.

2

[Marfan disease presenting in neonates with rapid cardio-vascular failure. Apropos of 2 cases].

Mathieu M, Labeille B, Sevestre H, Krim G, Olewnizak G, Maingourd Y, Piussan C. Mathieu M, et al. Ann Pediatr (Paris). 1989 Sep;36(7):465-8. Ann Pediatr (Paris). 1989. PMID: 2683946 Review. French.

3

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: mathieu m. Am J Hum Genet. 1992 May;50(5):981-7. Am J Hum Genet. 1992. PMID: 1349200 Free PMC article.

4

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: mathieu m. Am J Hum Genet. 1993 Jun;52(6):1040-5. Am J Hum Genet. 1993. PMID: 8503439 Free PMC article.

5

X-linked progressive mixed deafness: a new microdeletion that involves a more proximal region in Xq21.

Piussan C, Hanauer A, Dahl N, Mathieu M, Kolski C, Biancalana V, Heyberger S, Strunski V. Piussan C, et al. Among authors: mathieu m. Am J Hum Genet. 1995 Jan;56(1):224-30. Am J Hum Genet. 1995. PMID: 7825582 Free PMC article.

6

[Prenatal ultrasonic diagnosis of malformation uropathies: 13 cases].

Piussan C, Boudailliez B, Camier B, Mathieu M, Lenaerts C, Goldfarb A. Piussan C, et al. Among authors: mathieu m. J Genet Hum. 1984 Jun;32(2):113-20. J Genet Hum. 1984. PMID: 6376704 French.

7

Cerebro-costo-mandibular syndrome in a father and a female fetus: early prenatal ultrasonographic diagnosis and autosomal dominant transmission.

Morin G, Gekas J, Naepels P, Gondry J, Devauchelle B, Testelin S, Sevestre H, Thépôt F, Mathieu M. Morin G, et al. Among authors: mathieu m. Prenat Diagn. 2001 Oct;21(10):890-3. doi: 10.1002/pd.175. Prenat Diagn. 2001. PMID: 11746136

8

A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12.

Bonnet D, Pelet A, Legeai-Mallet L, Sidi D, Mathieu M, Parent P, Plauchu H, Serville F, Schinzel A, Weissenbach J, et al. Bonnet D, et al. Among authors: mathieu m. Nat Genet. 1994 Apr;6(4):405-8. doi: 10.1038/ng0494-405. Nat Genet. 1994. PMID: 8054983

9

Evidence for a fourth locus in Usher syndrome type I.

Gerber S, Larget-Piet D, Rozet JM, Bonneau D, Mathieu M, Der Kaloustian V, Munnich A, Kaplan J. Gerber S, et al. Among authors: mathieu m. J Med Genet. 1996 Jan;33(1):77-9. doi: 10.1136/jmg.33.1.77. J Med Genet. 1996. PMID: 8825055 Free PMC article.

10

Fragile X mutation and FG syndrome-like phenotype.

Piussan C, Mathieu M, Berquin P, Fryns JP. Piussan C, et al. Among authors: mathieu m. 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

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