Petit F - Search Results

1

15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.

Vanlerberghe C, Petit F, Malan V, Vincent-Delorme C, Bouquillon S, Boute O, Holder-Espinasse M, Delobel B, Duban B, Vallee L, Cuisset JM, Lemaitre MP, Vantyghem MC, Pigeyre M, Lanco-Dosen S, Plessis G, Gerard M, Decamp M, Mathieu M, Morin G, Jedraszak G, Bilan F, Gilbert-Dussardier B, Fauvert D, Roume J, Cormier-Daire V, Caumes R, Puechberty J, Genevieve D, Sarda P, Pinson L, Blanchet P, Lemeur N, Sheth F, Manouvrier-Hanu S, Andrieux J. Vanlerberghe C, et al. Among authors: petit f. Eur J Med Genet. 2015 Mar;58(3):140-7. doi: 10.1016/j.ejmg.2015.01.002. Epub 2015 Jan 14. Eur J Med Genet. 2015. PMID: 25596525

2

Characterization by array-CGH of an interstitial de novo tandem 6p21.2p22.1 duplication in a boy with epilepsy and developmental delay.

Andrieux J, Richebourg S, Duban-Bedu B, Petit F, Leprêtre F, Sukno S, Dehouck MB, Delobel B. Andrieux J, et al. Among authors: petit f. Eur J Med Genet. 2008 Jul-Aug;51(4):373-81. doi: 10.1016/j.ejmg.2008.02.010. Epub 2008 Mar 28. Eur J Med Genet. 2008. PMID: 18463015

3

[Myoclonic astatic seizures in a child with Sturge-Weber syndrome].

Petit F, Auvin S, Lamblin MD, Vallée L. Petit F, et al. Rev Neurol (Paris). 2008 Nov;164(11):953-6. doi: 10.1016/j.neurol.2008.03.018. Epub 2008 May 13. Rev Neurol (Paris). 2008. PMID: 18808759 French.

4

Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging.

Alao MJ, Bonneau D, Holder-Espinasse M, Goizet C, Manouvrier-Hanu S, Mezel A, Petit F, Subtil D, Magdelaine C, Lacombe D. Alao MJ, et al. Among authors: petit f. Eur J Med Genet. 2010 Jan-Feb;53(1):19-22. doi: 10.1016/j.ejmg.2009.08.007. Epub 2009 Oct 4. Eur J Med Genet. 2010. PMID: 19808103 Free article.

5

Molecular cytogenetic analysis by genomic hybridization to determine the cause of recurrent miscarriage.

Perrin A, Delobel B, Andrieux J, Gosset P, Gueganic N, Petit F, De Braekeleer M, Morel F. Perrin A, et al. Among authors: petit f. Fertil Steril. 2010 Apr;93(6):2075.e3-6. doi: 10.1016/j.fertnstert.2009.11.016. Epub 2010 Jan 13. Fertil Steril. 2010. PMID: 20056212 Free article.

6

[Characteristics of tuberous sclerosis in children].

Riquet A, Cuisset JM, Cuvellier JC, Joriot S, Petit F, Vallée L. Riquet A, et al. Among authors: petit f. Arch Pediatr. 2010 Sep;17(9):1338-45. doi: 10.1016/j.arcped.2010.06.019. Epub 2010 Aug 14. Arch Pediatr. 2010. PMID: 20709508 French.

7

Crane-Heise syndrome: two further case reports.

Petit F, Devisme L, Toutain A, Houfflin-Debarge V, Dieux-Coeslier A, Manouvrier-Hanu S, Andrieux J, Holder-Espinasse M. Petit F, et al. Eur J Med Genet. 2011 Mar-Apr;54(2):169-72. doi: 10.1016/j.ejmg.2010.11.004. Epub 2010 Nov 20. Eur J Med Genet. 2011. PMID: 21094705

8

Insights into genotype-phenotype correlations in spinal muscular atrophy: a retrospective study of 103 patients.

Petit F, Cuisset JM, Rouaix-Emery N, Cancés C, Sablonnière B, Bieth E, Moerman A, Sukno S, Hardy N, Holder-Espinasse M, Manouvrier-Hanu S, Vallée L. Petit F, et al. Muscle Nerve. 2011 Jan;43(1):26-30. doi: 10.1002/mus.21832. Muscle Nerve. 2011. PMID: 21171094

9

Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome.

Petit F, Holder-Espinasse M, Duban-Bedu B, Bouquillon S, Boute-Benejean O, Bazin A, Rouland V, Manouvrier-Hanu S, Delobel B. Petit F, et al. Clin Genet. 2012 Mar;81(3):265-71. doi: 10.1111/j.1399-0004.2010.01621.x. Epub 2011 Jan 19. Clin Genet. 2012. PMID: 21204802

10

Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia.

Petit F, Andrieux J, Holder-Espinasse M, Bouquillon S, Pennaforte T, Storme L, Manouvrier-Hanu S. Petit F, et al. Eur J Med Genet. 2011 Sep-Oct;54(5):e525-7. doi: 10.1016/j.ejmg.2011.06.011. Epub 2011 Jul 14. Eur J Med Genet. 2011. PMID: 21782985

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