Pons L - Search Results

1

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Schluth-Bolard C, Diguet F, Chatron N, Rollat-Farnier PA, Bardel C, Afenjar A, Amblard F, Amiel J, Blesson S, Callier P, Capri Y, Collignon P, Cordier MP, Coubes C, Demeer B, Chaussenot A, Demurger F, Devillard F, Doco-Fenzy M, Dupont C, Dupont JM, Dupuis-Girod S, Faivre L, Gilbert-Dussardier B, Guerrot AM, Houlier M, Isidor B, Jaillard S, Joly-Hélas G, Kremer V, Lacombe D, Le Caignec C, Lebbar A, Lebrun M, Lesca G, Lespinasse J, Levy J, Malan V, Mathieu-Dramard M, Masson J, Masurel-Paulet A, Mignot C, Missirian C, Morice-Picard F, Moutton S, Nadeau G, Pebrel-Richard C, Odent S, Paquis-Flucklinger V, Pasquier L, Philip N, Plutino M, Pons L, Portnoï MF, Prieur F, Puechberty J, Putoux A, Rio M, Rooryck-Thambo C, Rossi M, Sarret C, Satre V, Siffroi JP, Till M, Touraine R, Toutain A, Toutain J, Valence S, Verloes A, Whalen S, Edery P, Tabet AC, Sanlaville D. Schluth-Bolard C, et al. Among authors: pons l. J Med Genet. 2019 Aug;56(8):526-535. doi: 10.1136/jmedgenet-2018-105778. Epub 2019 Mar 28. J Med Genet. 2019. PMID: 30923172

2

Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients.

Masson J, Pons L, Busa T, Missirian C, Lines M, Tevissen H, Diguet F, Rollat-Farnier PA, Lesca G, Sanlaville D, Schluth-Bolard C. Masson J, et al. Among authors: pons l. Eur J Med Genet. 2022 Apr;65(4):104458. doi: 10.1016/j.ejmg.2022.104458. Epub 2022 Feb 18. Eur J Med Genet. 2022. PMID: 35189377

3

Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing.

Pons L, Bouvagnet P, Bakloul M, Di Filippo S, Buisson A, Chatron N, Labalme A, Metton O, Mitchell J, Diguet F, Rollat-Farnier PA, Sanlaville D, Schluth-Bolard C. Pons L, et al. Mol Syndromol. 2019 Jul;10(4):209-213. doi: 10.1159/000500215. Epub 2019 May 21. Mol Syndromol. 2019. PMID: 31602193 Free PMC article.

4

Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment.

Cabet S, Lesca G, Labalme A, Des Portes V, Guibaud L, Sanlaville D, Pons L. Cabet S, et al. Among authors: pons l. Eur J Med Genet. 2020 Jun;63(6):103897. doi: 10.1016/j.ejmg.2020.103897. Epub 2020 Feb 22. Eur J Med Genet. 2020. PMID: 32092440

5

Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency.

Pons L, Sabatier I, Alix E, Faoucher M, Labalme A, Sanlaville D, Lesca G. Pons L, et al. Eur J Med Genet. 2020 Oct;63(10):103994. doi: 10.1016/j.ejmg.2020.103994. Epub 2020 Jul 22. Eur J Med Genet. 2020. PMID: 32707268

6

ZEB2, a new candidate gene for asplenia.

Pons L, Dupuis-Girod S, Cordier MP, Edery P, Rossi M. Pons L, et al. Orphanet J Rare Dis. 2014 Jan 8;9:2. doi: 10.1186/1750-1172-9-2. Orphanet J Rare Dis. 2014. PMID: 24401652 Free PMC article.

7

A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.

Pons L, Cordier MP, Labalme A, Till M, Louvrier C, Schluth-Bolard C, Lesca G, Edery P, Sanlaville D. Pons L, et al. Am J Med Genet A. 2015 Jan;167A(1):164-8. doi: 10.1002/ajmg.a.36759. Epub 2014 Nov 25. Am J Med Genet A. 2015. PMID: 25425123

8

Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy.

Pons L, Lesca G, Sanlaville D, Chatron N, Labalme A, Manel V, Arzimanoglou A, de Bellescize J, Lion-François L. Pons L, et al. Epileptic Disord. 2018 Aug 1;20(4):289-294. doi: 10.1684/epd.2018.0988. Epileptic Disord. 2018. PMID: 30078772

9

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Karolak JA, Vincent M, Deutsch G, Gambin T, Cogné B, Pichon O, Vetrini F, Mefford HC, Dines JN, Golden-Grant K, Dipple K, Freed AS, Leppig KA, Dishop M, Mowat D, Bennetts B, Gifford AJ, Weber MA, Lee AF, Boerkoel CF, Bartell TM, Ward-Melver C, Besnard T, Petit F, Bache I, Tümer Z, Denis-Musquer M, Joubert M, Martinovic J, Bénéteau C, Molin A, Carles D, André G, Bieth E, Chassaing N, Devisme L, Chalabreysse L, Pasquier L, Secq V, Don M, Orsaria M, Missirian C, Mortreux J, Sanlaville D, Pons L, Küry S, Bézieau S, Liet JM, Joram N, Bihouée T, Scott DA, Brown CW, Scaglia F, Tsai AC, Grange DK, Phillips JA 3rd, Pfotenhauer JP, Jhangiani SN, Gonzaga-Jauregui CG, Chung WK, Schauer GM, Lipson MH, Mercer CL, van Haeringen A, Liu Q, Popek E, Coban Akdemir ZH, Lupski JR, Szafranski P, Isidor B, Le Caignec C, Stankiewicz P. Karolak JA, et al. Among authors: pons l. Am J Hum Genet. 2019 Feb 7;104(2):213-228. doi: 10.1016/j.ajhg.2018.12.010. Epub 2019 Jan 10. Am J Hum Genet. 2019. PMID: 30639323 Free PMC article.

10

Prenatal microarray comparative genomic hybridization: Experience from the two first years of activity at the Lyon university-hospital.

Pons L, Till M, Alix E, Abel C, Boggio D, Bordes A, Caloone J, Raskin FC, Chatron N, Cordier MP, Fichez A, Labalme A, Lajeunesse C, Liaras É, Massoud M, Miribel J, Ollagnon E, Schluth-Bolard C, Vichier-Cerf A, Edery P, Attia J, Huissoud C, Rudigoz RC, Massardier J, Gaucherand P, Sanlaville D. Pons L, et al. J Gynecol Obstet Hum Reprod. 2017 Mar;46(3):275-283. doi: 10.1016/j.jogoh.2016.11.004. Epub 2017 Jan 30. J Gynecol Obstet Hum Reprod. 2017. PMID: 28403926

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