Kannengiesser C - Search Results

1

Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome.

Reis AF, Kannengiesser C, Jennane F, Manna TD, Cheurfa N, Oudin C, Savoldelli RD, Oliveira C, Grandchamp B, Kok F, Velho G. Reis AF, et al. Among authors: kannengiesser c. Pediatr Diabetes. 2011 May;12(3 Pt 1):187-91. doi: 10.1111/j.1399-5448.2010.00679.x. Epub 2010 Sep 7. Pediatr Diabetes. 2011. PMID: 21518408

2

HNF1alpha mutations are present in half of clinically defined MODY patients in South-Brazilian individuals.

Maraschin Jde F, Kannengiesser C, Murussi N, Campagnolo N, Canani LH, Gross JL, Velho G, Grandchamp B, Silveiro SP. Maraschin Jde F, et al. Among authors: kannengiesser c. Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1326-31. doi: 10.1590/s0004-27302008000800020. Arq Bras Endocrinol Metabol. 2008. PMID: 19169489

3

Leukocyte Telomere Length, DNA Oxidation, and Risk of Lower-Extremity Amputation in Patients With Long-standing Type 1 Diabetes.

Sanchez M, Hoang S, Kannengiesser C, Potier L, Hadjadj S, Marre M, Roussel R, Velho G, Mohammedi K. Sanchez M, et al. Among authors: kannengiesser c. Diabetes Care. 2020 Apr;43(4):828-834. doi: 10.2337/dc19-0973. Epub 2020 Jan 27. Diabetes Care. 2020. PMID: 31988064

4

Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations.

Kannengiesser C, Gérard B, El Benna J, Henri D, Kroviarski Y, Chollet-Martin S, Gougerot-Pocidalo MA, Elbim C, Grandchamp B. Kannengiesser C, et al. Hum Mutat. 2008 Sep;29(9):E132-49. doi: 10.1002/humu.20820. Hum Mutat. 2008. PMID: 18546332

5

Not all DMT1 mutations lead to iron overload.

Blanco E, Kannengiesser C, Grandchamp B, Tasso M, Beaumont C. Blanco E, et al. Among authors: kannengiesser c. Blood Cells Mol Dis. 2009 Sep-Oct;43(2):199-201. doi: 10.1016/j.bcmd.2009.05.003. Epub 2009 Jun 24. Blood Cells Mol Dis. 2009. PMID: 19553145

6

First description of NOD2 variant associated with defective neutrophil responses in a woman with granulomatous mastitis related to corynebacteria.

Bercot B, Kannengiesser C, Oudin C, Grandchamp B, Sanson-le Pors MJ, Mouly S, Elbim C. Bercot B, et al. Among authors: kannengiesser c. J Clin Microbiol. 2009 Sep;47(9):3034-7. doi: 10.1128/JCM.00561-09. Epub 2009 Jul 29. J Clin Microbiol. 2009. PMID: 19641059 Free PMC article.

7

A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene.

Grandchamp B, Hetet G, Kannengiesser C, Oudin C, Beaumont C, Rodrigues-Ferreira S, Amson R, Telerman A, Nielsen P, Kohne E, Balser C, Heimpel H. Grandchamp B, et al. Among authors: kannengiesser c. Blood. 2011 Dec 15;118(25):6660-6. doi: 10.1182/blood-2011-01-329011. Epub 2011 Oct 26. Blood. 2011. PMID: 22031863 Free article.

8

Two novel mutations in the L ferritin coding sequence associated with benign hyperferritinaemia unmasked by glycosylated ferritin assay.

Thurlow V, Vadher B, Bomford A, DeLord C, Kannengiesser C, Beaumont C, Grandchamp B. Thurlow V, et al. Among authors: kannengiesser c. Ann Clin Biochem. 2012 May;49(Pt 3):302-5. doi: 10.1258/acb.2011.011229. Epub 2012 Apr 25. Ann Clin Biochem. 2012. PMID: 22535864

9

Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies.

De Falco L, Silvestri L, Kannengiesser C, Morán E, Oudin C, Rausa M, Bruno M, Aranda J, Argiles B, Yenicesu I, Falcon-Rodriguez M, Yilmaz-Keskin E, Kocak U, Beaumont C, Camaschella C, Iolascon A, Grandchamp B, Sanchez M. De Falco L, et al. Among authors: kannengiesser c. Hum Mutat. 2014 Nov;35(11):1321-9. doi: 10.1002/humu.22632. Epub 2014 Sep 10. Hum Mutat. 2014. PMID: 25156943

10

Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency.

Guillem F, Lawson S, Kannengiesser C, Westerman M, Beaumont C, Grandchamp B. Guillem F, et al. Among authors: kannengiesser c. Blood. 2008 Sep 1;112(5):2089-91. doi: 10.1182/blood-2008-05-154740. Epub 2008 Jul 2. Blood. 2008. PMID: 18596229 Free article.

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