Petit FM - Search Results

1

Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.

Ben Rhouma F, Azzouz H, Petit FM, Khelifa MB, Chehida AB, Nasrallah F, Parisot F, Lasram K, Kefi R, Bouyacoub Y, Romdhane L, Baussan C, Kaabachi N, Ben Dridi MF, Tebib N, Abdelhak S. Ben Rhouma F, et al. Among authors: petit fm. Mol Biol Rep. 2013 Jul;40(7):4197-202. doi: 10.1007/s11033-013-2500-z. Epub 2013 May 8. Mol Biol Rep. 2013. PMID: 23649758

2

Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet.

Valayannopoulos V, Bajolle F, Arnoux JB, Dubois S, Sannier N, Baussan C, Petit F, Labrune P, Rabier D, Ottolenghi C, Vassault A, Broissand C, Bonnet D, de Lonlay P. Valayannopoulos V, et al. Pediatr Res. 2011 Dec;70(6):638-41. doi: 10.1203/PDR.0b013e318232154f. Pediatr Res. 2011. PMID: 21857385

3

Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene.

Angaroni CJ, Labrune P, Petit F, Sastre D, Capra AE, Dodelson de Kremer R, Argaraña CE. Angaroni CJ, et al. Mol Genet Metab. 2006 May;88(1):96-9. doi: 10.1016/j.ymgme.2005.12.011. Epub 2006 Feb 21. Mol Genet Metab. 2006. PMID: 16490377

4

The Tunisian population history through the Crigler-Najjar type I syndrome.

Petit FM, Bézieau S, Gajdos V, Parisot F, Scoul C, Capel L, Stozinic V, Khrouf N, M'Rad R, Koshy A, Mollet-Boudjemline A, Francoual J, Labrune P. Petit FM, et al. Eur J Hum Genet. 2008 Jul;16(7):848-53. doi: 10.1038/sj.ejhg.5201989. Epub 2008 Jan 16. Eur J Hum Genet. 2008. PMID: 18197191

5

Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3.

Nazari F, Sinaei F, Nilipour Y, Petit F, Oveisgharan S, Nassiri-Toosi M, Razzaghy-Azar M, Mahmoudi M, Nafissi S. Nazari F, et al. J Clin Neuromuscul Dis. 2018 Jun;19(4):203-210. doi: 10.1097/CND.0000000000000212. J Clin Neuromuscul Dis. 2018. PMID: 29794575

6

Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.

Petit FM, Gajdos V, Parisot F, Capel L, Aboura A, Lachaux A, Tachdjian G, Poüs C, Labrune P. Petit FM, et al. Eur J Hum Genet. 2005 Mar;13(3):278-82. doi: 10.1038/sj.ejhg.5201342. Eur J Hum Genet. 2005. PMID: 15586176

7

A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome.

Petit FM, Hébert M, Picone O, Brisset S, Maurin ML, Parisot F, Capel L, Benattar C, Sénat MV, Tachdjian G, Labrune P. Petit FM, et al. Eur J Hum Genet. 2009 Mar;17(3):387-90. doi: 10.1038/ejhg.2008.186. Epub 2008 Oct 15. Eur J Hum Genet. 2009. PMID: 18854864 Free PMC article.

8

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.

Sentner CP, Hoogeveen IJ, Weinstein DA, Santer R, Murphy E, McKiernan PJ, Steuerwald U, Beauchamp NJ, Taybert J, Laforêt P, Petit FM, Hubert A, Labrune P, Smit GPA, Derks TGJ. Sentner CP, et al. Among authors: petit fm. J Inherit Metab Dis. 2016 Sep;39(5):697-704. doi: 10.1007/s10545-016-9932-2. Epub 2016 Apr 22. J Inherit Metab Dis. 2016. PMID: 27106217 Free PMC article.

9

Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa.

Decostre V, Laforêt P, De Antonio M, Kachetel K, Canal A, Ollivier G, Nadaj-Pakleza A, Petit FM, Wahbi K, Fayssoil A, Eymard B, Behin A, Labrune P, Hogrel JY. Decostre V, et al. Among authors: petit fm. Mol Genet Metab. 2017 Nov;122(3):108-116. doi: 10.1016/j.ymgme.2017.08.010. Epub 2017 Aug 30. Mol Genet Metab. 2017. PMID: 28888851

10

15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.

Huynh MT, Lambert AS, Tosca L, Petit F, Philippe C, Parisot F, Benoît V, Linglart A, Brisset S, Tran CT, Tachdjian G, Receveur A. Huynh MT, et al. Eur J Med Genet. 2018 Aug;61(8):459-464. doi: 10.1016/j.ejmg.2018.03.005. Epub 2018 Mar 14. Eur J Med Genet. 2018. PMID: 29549028

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