Chapuis-Cellier C - Search Results

1

SERPINA1 and MAN1B1 polymorphisms are not linked to severe liver disease in a French cohort of alpha-1 antitrypsin deficiency children.

Joly P, Lachaux A, Ruiz M, Restier L, Belmalih A, Chapuis-Cellier C, Francina A, Renoux C, Bouchecareilh M. Joly P, et al. Among authors: chapuis cellier c. Liver Int. 2017 Nov;37(11):1608-1611. doi: 10.1111/liv.13586. Epub 2017 Sep 15. Liver Int. 2017. PMID: 28887821

2

[DEFI-ALPHA cohort and POLYGEN DEFI-ALPHA clinical research hospital programme. A study about clinical, biological and genetics factors associated with the occurrence and the evolution of hepatic complications in children with alpha-1 antitrypsin deficiency].

Joly P, Restier L, Bouchecareilh M, Lacan P, Cabet F, Chapuis-Cellier C, Francina A, Lachaux A. Joly P, et al. Rev Mal Respir. 2015 Sep;32(7):759-67. doi: 10.1016/j.rmr.2015.06.010. Epub 2015 Aug 1. Rev Mal Respir. 2015. PMID: 26238925 French.

3

Assessment of liver fibrosis by transient elastography (Fibroscan^®) in patients with A1AT deficiency.

Guillaud O, Dumortier J, Traclet J, Restier L, Joly P, Chapuis-Cellier C, Lachaux A, Mornex JF. Guillaud O, et al. Among authors: chapuis cellier c. Clin Res Hepatol Gastroenterol. 2019 Feb;43(1):77-81. doi: 10.1016/j.clinre.2018.08.016. Epub 2019 Jan 3. Clin Res Hepatol Gastroenterol. 2019. PMID: 30612958

4

Clinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous states.

Joly P, Guillaud O, Hervieu V, Francina A, Mornex JF, Chapuis-Cellier C. Joly P, et al. Orphanet J Rare Dis. 2015 Oct 7;10:130. doi: 10.1186/s13023-015-0350-6. Orphanet J Rare Dis. 2015. PMID: 26446624 Free PMC article.

5

Description of 22 new alpha-1 antitrypsin genetic variants.

Renoux C, Odou MF, Tosato G, Teoli J, Abbou N, Lombard C, Zerimech F, Porchet N, Chapuis Cellier C, Balduyck M, Joly P. Renoux C, et al. Among authors: chapuis cellier c. Orphanet J Rare Dis. 2018 Sep 17;13(1):161. doi: 10.1186/s13023-018-0897-0. Orphanet J Rare Dis. 2018. PMID: 30223862 Free PMC article.

6

Liver disease related to alpha1-antitrypsin deficiency in French children: The DEFI-ALPHA cohort.

Ruiz M, Lacaille F, Berthiller J, Joly P, Dumortier J, Aumar M, Bridoux-Henno L, Jacquemin E, Lamireau T, Broué P, Rivet C, Belmalih A, Restier L, Chapuis-Cellier C, Bouchecareilh M, Lachaux A; Groupe Francophone d’Hépatologie Gastroentérologie et Nutrition Pédiatriques. Ruiz M, et al. Among authors: chapuis cellier c. Liver Int. 2019 Jun;39(6):1136-1146. doi: 10.1111/liv.14035. Epub 2019 Feb 1. Liver Int. 2019. PMID: 30589493

7

[Place of genotyping in addition to the phenotype and the assay of serum α-1 antitrypsin].

Joly P, Francina A, Lacan P, Heraut J, Chapuis-Cellier C. Joly P, et al. Ann Biol Clin (Paris). 2011 Sep-Oct;69(5):571-6. doi: 10.1684/abc.2011.0613. Ann Biol Clin (Paris). 2011. PMID: 22008137 Free article. French.

8

Molecular characterization of 7 new alpha-1 anti-trypsin (A1AT) variants including two with an associated deficient phenotype.

Joly P, Lacan P, Chapuis-Cellier C, Garcia C, Bererd M, Francina A. Joly P, et al. Clin Chim Acta. 2014 Jan 1;427:21-2. doi: 10.1016/j.cca.2013.09.017. Epub 2013 Sep 29. Clin Chim Acta. 2014. PMID: 24084503 No abstract available.

9

[Development of a laboratory test on dried blood spots for facilitating early diagnosis of alpha-1-antitrypsin deficiency].

Balduyck M, Chapuis Cellier C, Roche D, Odou MF, Joly P, Madelain V, Vergne A, Nouadje G, Lafitte JJ, Porchet N, Beaune P, Zerimech F. Balduyck M, et al. Ann Biol Clin (Paris). 2014 Nov-Dec;72(6):689-704. doi: 10.1684/abc.2014.1004. Ann Biol Clin (Paris). 2014. PMID: 25486665 Free article. French.

10

[Screening for alpha1-antitrypsin deficiency using dried blood spot: Assessment of the first 20 months].

Chapuis Cellier C, Narjoz C, Zerimech F, Odou MF, Joly P, Lombard C, Mornex JF, Balduyck M. Chapuis Cellier C, et al. Rev Mal Respir. 2020 Oct;37(8):633-643. doi: 10.1016/j.rmr.2020.08.001. Epub 2020 Aug 25. Rev Mal Respir. 2020. PMID: 32859429 French.

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