Simon-Bouy B - Search Results

1

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

Karmous-Benailly H, Martinovic J, Gubler MC, Sirot Y, Clech L, Ozilou C, Auge J, Brahimi N, Etchevers H, Detrait E, Esculpavit C, Audollent S, Goudefroye G, Gonzales M, Tantau J, Loget P, Joubert M, Gaillard D, Jeanne-Pasquier C, Delezoide AL, Peter MO, Plessis G, Simon-Bouy B, Dollfus H, Le Merrer M, Munnich A, Encha-Razavi F, Vekemans M, Attié-Bitach T. Karmous-Benailly H, et al. Am J Hum Genet. 2005 Mar;76(3):493-504. doi: 10.1086/428679. Epub 2005 Jan 21. Am J Hum Genet. 2005. PMID: 15666242 Free PMC article.

2

Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different.

Viot G, Sonigo P, Simon I, Simon-Bouy B, Chadeyron F, Beldjord C, Tantau J, Martinovic J, Esculpavit C, Brunelle F, Munnich A, Vekemans M, Encha-Razavi F. Viot G, et al. Am J Med Genet A. 2004 Apr 15;126A(2):123-8. doi: 10.1002/ajmg.a.20569. Am J Med Genet A. 2004. PMID: 15057976

3

Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects.

Mornet E, Muller F, Lenvoisé-Furet A, Delezoide AL, Col JY, Simon-Bouy B, Serre JL. Mornet E, et al. Hum Genet. 1997 Oct;100(5-6):512-4. doi: 10.1007/s004390050544. Hum Genet. 1997. PMID: 9341863

4

Parental origin and mechanisms of formation of three cases of 12p tetrasomy.

Turleau C, Simon-Bouy B, Austruy E, Grisard MC, Lemaire F, Molina-Gomes D, Siffroi JP, Boué J. Turleau C, et al. Clin Genet. 1996 Jul;50(1):41-6. doi: 10.1111/j.1399-0004.1996.tb02344.x. Clin Genet. 1996. PMID: 8891385

5

Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: results of a French molecular collaborative study based on 641 prospective cases.

Muller F, Simon-Bouy B, Girodon E, Monnier N, Malinge MC, Serre JL; French Collaborative Group. Muller F, et al. Am J Med Genet. 2002 Jun 15;110(2):109-15. doi: 10.1002/ajmg.10431. Am J Med Genet. 2002. PMID: 12116247

6

Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics.

Serre JL, Simon-Bouy B, Mornet E, Jaume-Roig B, Balassopoulou A, Schwartz M, Taillandier A, Boué J, Boué A. Serre JL, et al. Hum Genet. 1990 Apr;84(5):449-54. doi: 10.1007/BF00195818. Hum Genet. 1990. PMID: 1969843

7

The cystic fibrosis delta F508 mutation in the French population.

Simon-Bouy B, Mornet E, Serre JL, Taillandier A, Boué J, Boué A. Simon-Bouy B, et al. Hum Genet. 1990 Sep;85(4):431-2. doi: 10.1007/BF02428300. Hum Genet. 1990. PMID: 2210765

8

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.

Mornet E, Taillandier A, Peyramaure S, Kaper F, Muller F, Brenner R, Bussière P, Freisinger P, Godard J, Le Merrer M, Oury JF, Plauchu H, Puddu R, Rival JM, Superti-Furga A, Touraine RL, Serre JL, Simon-Bouy B. Mornet E, et al. Eur J Hum Genet. 1998 Jul-Aug;6(4):308-14. doi: 10.1038/sj.ejhg.5200190. Eur J Hum Genet. 1998. PMID: 9781036

9

The delta F508 mutation in mild adult forms of cystic fibrosis (CF).

Simon-Bouy B, Mornet E, Taillandier A, Serre JL, Boue J, Boue A. Simon-Bouy B, et al. Clin Genet. 1991 Apr;39(4):304-5. doi: 10.1111/j.1399-0004.1991.tb03030.x. Clin Genet. 1991. PMID: 1712680

10

Genotyping of the Spanish cystic fibrosis population at the delta F508 mutation site and RFLP linked loci.

Jaume-Roig B, Simon-Bouy B, Taillandier A, Serre JL, Antich J, Bellon J, Boué J, Boué A. Jaume-Roig B, et al. Hum Genet. 1990 Sep;85(4):410-1. doi: 10.1007/BF02428284. Hum Genet. 1990. PMID: 1976593

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