Balduyck M - Search Results

1

Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations.

Jourdain AS, Petit F, Odou MF, Balduyck M, Brunelle P, Dufour W, Boussion S, Brischoux-Boucher E, Colson C, Dieux A, Gérard M, Ghoumid J, Giuliano F, Goldenberg A, Khau Van Kien P, Lehalle D, Morin G, Moutton S, Smol T, Vanlerberghe C, Manouvrier-Hanu S, Escande F. Jourdain AS, et al. Among authors: balduyck m. Hum Mutat. 2020 Jan;41(1):222-239. doi: 10.1002/humu.23912. Epub 2019 Sep 23. Hum Mutat. 2020. PMID: 31502745

2

[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.

3

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: balduyck m. 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.

4

[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. Among authors: balduyck m. 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.

5

Diagnosis of alpha-1 antitrypsin deficiency: modalities, indications and diagnosis strategy.

Balduyck M, Odou MF, Zerimech F, Porchet N, Lafitte JJ, Maitre B. Balduyck M, et al. Rev Mal Respir. 2014 Oct;31(8):729-45. doi: 10.1016/j.rmr.2014.06.001. Epub 2014 Jul 3. Rev Mal Respir. 2014. PMID: 25391508 Review.

6

[Inter-alpha-trypsin inhibitor and its plasma and urine derivatives].

Balduyck M, Mizon J. Balduyck M, et al. Ann Biol Clin (Paris). 1991;49(5):273-81. Ann Biol Clin (Paris). 1991. PMID: 1928843 Review. French.

7

[Antitrypsin activity of the urine and alpha 1 protease inhibitor].

Loutfti H, Mizon C, Balduyck M, Gosset D, Tacquet A, Mizon J. Loutfti H, et al. Among authors: balduyck m. Ann Biol Clin (Paris). 1989;47(5):261-7. Ann Biol Clin (Paris). 1989. PMID: 2787133 French.

8

Cathepsin B, L, and D activities in colorectal carcinomas: relationship with clinico-pathological parameters.

Adenis A, Huet G, Zerimech F, Hecquet B, Balduyck M, Peyrat JP. Adenis A, et al. Among authors: balduyck m. Cancer Lett. 1995 Sep 25;96(2):267-75. doi: 10.1016/0304-3835(95)03930-u. Cancer Lett. 1995. PMID: 7585467

9

Relationship between a mild alpha 1 proteinase inhibitor deficiency and respiratory symptoms in a family.

Huet-Duvillier G, Balduyck M, Watrigant Y, Sesboue R, Thiebaut C, Lafitte JJ, Degand P. Huet-Duvillier G, et al. Among authors: balduyck m. Ann Clin Biochem. 1995 Nov;32 ( Pt 6):545-9. doi: 10.1177/000456329503200605. Ann Clin Biochem. 1995. PMID: 8579286

10

Heterozygous M3Mmalton alpha1-antitrypsin deficiency associated with end-stage liver disease: case report and review.

Canva V, Piotte S, Aubert JP, Porchet N, Lecomte-Houcke M, Huet G, Zenjari T, Roumilhac D, Pruvot FR, Degand P, Paris JC, Balduyck M. Canva V, et al. Among authors: balduyck m. Clin Chem. 2001 Aug;47(8):1490-6. Clin Chem. 2001. PMID: 11468249

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