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Items: 1 to 50 of 259

1.

Truncating mutations of TP53AIP1 gene predispose to cutaneous melanoma.

Benfodda M, Gazal S, Descamps V, Basset-Seguin N, Deschamps L, Thomas L, Lebbe C, Saiag P, Zanetti R, Sacchetto L, Chiorino G, Scatolini M, Grandchamp B, Bensussan A, Soufir N.

Genes Chromosomes Cancer. 2018 Jun;57(6):294-303. doi: 10.1002/gcc.22528. Epub 2018 Feb 21.

PMID:
29359367
2.

Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis.

Borie R, Tabèze L, Thabut G, Nunes H, Cottin V, Marchand-Adam S, Prevot G, Tazi A, Cadranel J, Mal H, Wemeau-Stervinou L, Bergeron Lafaurie A, Israel-Biet D, Picard C, Reynaud Gaubert M, Jouneau S, Naccache JM, Mankikian J, Ménard C, Cordier JF, Valeyre D, Reocreux M, Grandchamp B, Revy P, Kannengiesser C, Crestani B.

Eur Respir J. 2016 Dec;48(6):1721-1731. doi: 10.1183/13993003.02115-2015. Epub 2016 Nov 11.

3.

Promoter hypermethylation of HS3ST2, SEPTIN9 and SLIT2 combined with FGFR3 mutations as a sensitive/specific urinary assay for diagnosis and surveillance in patients with low or high-risk non-muscle-invasive bladder cancer.

Roperch JP, Grandchamp B, Desgrandchamps F, Mongiat-Artus P, Ravery V, Ouzaid I, Roupret M, Phe V, Ciofu C, Tubach F, Cussenot O, Incitti R.

BMC Cancer. 2016 Sep 1;16:704. doi: 10.1186/s12885-016-2748-5.

4.

PARKIN Inactivation Links Parkinson's Disease to Melanoma.

Hu HH, Kannengiesser C, Lesage S, André J, Mourah S, Michel L, Descamps V, Basset-Seguin N, Bagot M, Bensussan A, Lebbé C, Deschamps L, Saiag P, Leccia MT, Bressac-de-Paillerets B, Tsalamlal A, Kumar R, Klebe S, Grandchamp B, Andrieu-Abadie N, Thomas L, Brice A, Dumaz N, Soufir N.

J Natl Cancer Inst. 2015 Dec 17;108(3). doi: 10.1093/jnci/djv340. Print 2016 Mar.

PMID:
26683220
5.

The Diagnostic and Prognostic Performance of Urinary FGFR3 Mutation Analysis in Bladder Cancer Surveillance: A Prospective Multicenter Study.

Couffignal C, Desgrandchamps F, Mongiat-Artus P, Ravery V, Ouzaid I, Roupret M, Phe V, Ciofu C, Tubach F, Mentre F, Cussenot O, Grandchamp B.

Urology. 2015 Dec;86(6):1185-90. doi: 10.1016/j.urology.2015.07.036. Epub 2015 Sep 11.

PMID:
26364695
6.

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.

Kannengiesser C, Borie R, Ménard C, Réocreux M, Nitschké P, Gazal S, Mal H, Taillé C, Cadranel J, Nunes H, Valeyre D, Cordier JF, Callebaut I, Boileau C, Cottin V, Grandchamp B, Revy P, Crestani B.

Eur Respir J. 2015 Aug;46(2):474-85. doi: 10.1183/09031936.00040115. Epub 2015 May 28.

7.

Genes involved in the WNT and vesicular trafficking pathways are associated with melanoma predisposition.

Ibarrola-Villava M, Kumar R, Nagore E, Benfodda M, Guedj M, Gazal S, Hu HH, Guan J, Rachkonda PS, Descamps V, Basset-Seguin N, Bensussan A, Bagot M, Saiag P, Schadendorf D, Martin-Gonzalez M, Mayor M, Grandchamp B, Ribas G, Soufir N.

Int J Cancer. 2015 May 1;136(9):2109-19. doi: 10.1002/ijc.29257. Epub 2014 Oct 24.

8.

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.

Hum Mutat. 2014 Nov;35(11):1321-9. doi: 10.1002/humu.22632. Epub 2014 Sep 10.

PMID:
25156943
9.

A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.

Hu HH, Benfodda M, Dumaz N, Gazal S, Descamps V, Bourillon A, Basset-Seguin N, Riffault A, Ezzedine K, Bagot M, Bensussan A, Saiag P, Grandchamp B, Soufir N.

Biomed Res Int. 2014;2014:925716. doi: 10.1155/2014/925716. Epub 2014 Apr 10.

10.

Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition.

Aubart M, Gobert D, Aubart-Cohen F, Detaint D, Hanna N, d'Indya H, Lequintrec JS, Renard P, Vigneron AM, Dieudé P, Laissy JP, Koch P, Muti C, Roume J, Cusin V, Grandchamp B, Gouya L, LeGuern E, Papo T, Boileau C, Jondeau G.

PLoS One. 2014 May 7;9(5):e96387. doi: 10.1371/journal.pone.0096387. eCollection 2014.

11.

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

Callebaut I, Joubrel R, Pissard S, Kannengiesser C, Gérolami V, Ged C, Cadet E, Cartault F, Ka C, Gourlaouen I, Gourhant L, Oudin C, Goossens M, Grandchamp B, De Verneuil H, Rochette J, Férec C, Le Gac G.

Hum Mol Genet. 2014 Sep 1;23(17):4479-90. doi: 10.1093/hmg/ddu160. Epub 2014 Apr 8.

PMID:
24714983
12.

Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria.

Oustric V, Manceau H, Ducamp S, Soaid R, Karim Z, Schmitt C, Mirmiran A, Peoc'h K, Grandchamp B, Beaumont C, Lyoumi S, Moreau-Gaudry F, Guyonnet-Dupérat V, de Verneuil H, Marie J, Puy H, Deybach JC, Gouya L.

Am J Hum Genet. 2014 Apr 3;94(4):611-7. doi: 10.1016/j.ajhg.2014.02.010. Epub 2014 Mar 27.

13.

RHOXF2 gene, a new candidate gene for spermatogenesis failure.

Frainais C, Kannengiesser C, Albert M, Molina-Gomes D, Boitrelle F, Bailly M, Grandchamp B, Selva J, Vialard F.

Basic Clin Androl. 2014 Feb 10;24:3. doi: 10.1186/2051-4190-24-3. eCollection 2014.

14.

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.

Campagna DR, de Bie CI, Schmitz-Abe K, Sweeney M, Sendamarai AK, Schmidt PJ, Heeney MM, Yntema HG, Kannengiesser C, Grandchamp B, Niemeyer CM, Knoers NV, Swart S, Marron G, van Wijk R, Raymakers RA, May A, Markianos K, Bottomley SS, Swinkels DW, Fleming MD.

Am J Hematol. 2014 Mar;89(3):315-9. doi: 10.1002/ajh.23616. Epub 2013 Nov 20. Erratum in: Am J Hematol. 2014 Jun;89(6):670.

15.

Epistasis in iron metabolism: complex interactions between Cp, Mon1a, and Slc40a1 loci and tissue iron in mice.

Delaby C, Oustric V, Schmitt C, Muzeau F, Robreau AM, Letteron P, Couchi E, Yu A, Lyoumi S, Deybach JC, Puy H, Karim Z, Beaumont C, Grandchamp B, Demant P, Gouya L.

Mamm Genome. 2013 Dec;24(11-12):427-38.

PMID:
24121729
16.

The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population.

Borie R, Crestani B, Dieude P, Nunes H, Allanore Y, Kannengiesser C, Airo P, Matucci-Cerinic M, Wallaert B, Israel-Biet D, Cadranel J, Cottin V, Gazal S, Peljto AL, Varga J, Schwartz DA, Valeyre D, Grandchamp B.

PLoS One. 2013 Aug 5;8(8):e70621. doi: 10.1371/journal.pone.0070621. Print 2013. Review.

17.

Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C.

Hadj-Rabia S, Oriot D, Soufir N, Dufresne H, Bourrat E, Mallet S, Poulhalon N, Ezzedine K, Grandchamp B, Taïeb A, Catteau B, Sarasin A, Bodemer C.

Br J Dermatol. 2013 May;168(5):1109-13. doi: 10.1111/bjd.12183. Erratum in: Br J Dermatol. 2013 Sep;169(3):726. Ezzedine, E [corrected to Ezzedine, K].

PMID:
23278166
18.

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.

Vuillaumier-Barrot S, Bouchet-Séraphin C, Chelbi M, Devisme L, Quentin S, Gazal S, Laquerrière A, Fallet-Bianco C, Loget P, Odent S, Carles D, Bazin A, Aziza J, Clemenson A, Guimiot F, Bonnière M, Monnot S, Bole-Feysot C, Bernard JP, Loeuillet L, Gonzales M, Socha K, Grandchamp B, Attié-Bitach T, Encha-Razavi F, Seta N.

Am J Hum Genet. 2012 Dec 7;91(6):1135-43. doi: 10.1016/j.ajhg.2012.10.009.

19.

Comment on: Park et al. Association of serum ferritin and the development of metabolic syndrome in middle-aged Korean men: a 5-year follow-up study. Diabetes Care 2012;35:2521-2526.

Fumeron F, Vari IS, Grandchamp B, Balkau B.

Diabetes Care. 2012 Dec;35(12):e92. doi: 10.2337/dc12-1803. No abstract available.

20.

Genetic variation at KIT locus may predispose to melanoma.

Bourillon A, Hu HH, Hetet G, Lacapere JJ, André J, Descamps V, Basset-Seguin N, Ogbah Z, Puig S, Saiag P, Bagot M, Bensussan A, Grandchamp B, Dumaz N, Soufir N.

Pigment Cell Melanoma Res. 2013 Jan;26(1):88-96. doi: 10.1111/pcmr.12032. Epub 2012 Nov 23.

PMID:
23020152
21.

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.

Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, Abifadel M, Leal SM, Muti C, Shendure J, Gross MS, Rieder MJ, Vahanian A, Nickerson DA, Michel JB; National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project, Jondeau G, Milewicz DM.

Nat Genet. 2012 Jul 8;44(8):916-21. doi: 10.1038/ng.2348.

22.

Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.

Guillem F, Kannengiesser C, Oudin C, Lenoir A, Matak P, Donadieu J, Isidor B, Méchinaud F, Aguilar-Martinez P, Beaumont C, Vaulont S, Grandchamp B, Nicolas G.

Hum Mutat. 2012 Sep;33(9):1388-96. doi: 10.1002/humu.22116. Epub 2012 May 30.

23.

[Molecular diagnosis of HFE mutations in routine laboratories. Results of a survey from reference laboratories in France].

Jouanolle AM, Gérolami V, Ged C, Grandchamp B, Le Gac G, Pissard S, Rochette J, Aguilar-Martinez P.

Ann Biol Clin (Paris). 2012 May-Jun;70(3):305-13. doi: 10.1684/abc.2012.0704. French.

24.

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.

Ann Clin Biochem. 2012 May;49(Pt 3):302-5. doi: 10.1258/acb.2011.011229. Epub 2012 Apr 25.

PMID:
22535864
25.

A new human NHERF1 mutation decreases renal phosphate transporter NPT2a expression by a PTH-independent mechanism.

Courbebaisse M, Leroy C, Bakouh N, Salaün C, Beck L, Grandchamp B, Planelles G, Hall RA, Friedlander G, Prié D.

PLoS One. 2012;7(4):e34764. doi: 10.1371/journal.pone.0034764. Epub 2012 Apr 10.

26.

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.

Blood. 2011 Dec 15;118(25):6660-6. doi: 10.1182/blood-2011-01-329011. Epub 2011 Oct 26.

PMID:
22031863
27.

Assessment of tyrosinase variants and skin cancer risk in a large cohort of French subjects.

Hu HH, Guedj M, Descamps V, Jouary T, Bourillon A, Ezzedine K, Taieb A, Bagot M, Bensussan A, Saiag P, Grandchamp B, Basset-Seguin N, Soufir N.

J Dermatol Sci. 2011 Nov;64(2):127-33. doi: 10.1016/j.jdermsci.2011.07.003. Epub 2011 Aug 22.

PMID:
21906913
28.

Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies.

Vuillaumier-Barrot S, Bouchet-Seraphin C, Chelbi M, Eude-Caye A, Charluteau E, Besson C, Quentin S, Devisme L, Le Bizec C, Landrieu P, Goldenberg A, Maincent K, Loget P, Boute O, Gilbert-Dussardier B, Encha-Razavi F, Gonzales M, Grandchamp B, Seta N.

Neuromuscul Disord. 2011 Nov;21(11):782-90. doi: 10.1016/j.nmd.2011.06.001. Epub 2011 Jul 2.

PMID:
21727005
29.

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.

Pediatr Diabetes. 2011 May;12(3 Pt 1):187-91. doi: 10.1111/j.1399-5448.2010.00679.x. Epub 2010 Sep 7.

PMID:
21518408
30.

EDNRB gene variants and melanoma risk in two southern European populations.

Spica T, Fargnoli MC, Hetet G, Bertrand G, Formicone F, Descamps V, Wolkenstein P, Dupin N, Lebbe C, Basset-Seguin N, Saiag P, Cambien F, Grandchamp B, Peris K, Soufir N.

Clin Exp Dermatol. 2011 Oct;36(7):782-7. doi: 10.1111/j.1365-2230.2011.04062.x. Epub 2011 Apr 20.

PMID:
21507037
31.

Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.

Kannengiesser C, Sanchez M, Sweeney M, Hetet G, Kerr B, Moran E, Fuster Soler JL, Maloum K, Matthes T, Oudot C, Lascaux A, Pondarré C, Sevilla Navarro J, Vidyatilake S, Beaumont C, Grandchamp B, May A.

Haematologica. 2011 Jun;96(6):808-13. doi: 10.3324/haematol.2010.039164. Epub 2011 Mar 10.

32.

Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations.

Ducamp S, Kannengiesser C, Touati M, Garçon L, Guerci-Bresler A, Guichard JF, Vermylen C, Dochir J, Poirel HA, Fouyssac F, Mansuy L, Leroux G, Tertian G, Girot R, Heimpel H, Matthes T, Talbi N, Deybach JC, Beaumont C, Puy H, Grandchamp B.

Hum Mutat. 2011 Jun;32(6):590-7. doi: 10.1002/humu.21455. Epub 2011 Feb 24.

PMID:
21309041
33.

Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.

Aguilar-Martinez P, Grandchamp B, Cunat S, Cadet E, Blanc F, Nourrit M, Lassoued K, Schved JF, Rochette J.

Haematologica. 2011 Apr;96(4):507-14. doi: 10.3324/haematol.2010.029751. Epub 2011 Jan 12.

34.

Is EPO therapy able to correct iron deficiency anaemia caused by matriptase-2 deficiency?

Nicolas G, Deschemin JC, Ramsay AJ, Mayeux P, Grandchamp B, Beaumont C, Velasco G, Vaulont S.

Br J Haematol. 2011 Feb;152(4):498-500. doi: 10.1111/j.1365-2141.2010.08473.x. Epub 2011 Jan 11. No abstract available.

PMID:
21223251
35.

Immunoassay for human serum hemojuvelin.

Brasse-Lagnel C, Poli M, Lesueur C, Grandchamp B, Lavoinne A, Beaumont C, Bekri S.

Haematologica. 2010 Dec;95(12):2031-7. doi: 10.3324/haematol.2010.022129. Epub 2010 Aug 16.

36.

Matrix metalloproteinase-3 and intracranial arterial dolichoectasia.

Pico F, Jacob MP, Labreuche J, Soufir N, Touboul PJ, Benessiano J, Cambien F, Grandchamp B, Michel JB, Amarenco P.

Ann Neurol. 2010 Apr;67(4):508-15. doi: 10.1002/ana.21922.

PMID:
20437586
37.

[Intra- and interfamilial phenotype variation in Birt-Hogg-Dubé syndrome: Consequences for therapy].

Steff M, Bourillon A, Frebourg T, Balderi X, Descamps V, Joly P, Piette F, Crestani B, Grandchamp B, Soufir N.

Ann Dermatol Venereol. 2010 Mar;137(3):203-7. doi: 10.1016/j.annder.2009.12.014. Epub 2010 Jan 15. French.

PMID:
20227563
38.

Interactions between ultraviolet light exposure and DNA repair gene polymorphisms may increase melanoma risk.

Di Lucca J, Guedj M, Descamps V, Bourillon A, Dieudé P, Saiag P, Wolkenstein P, Dupin N, Lebbe C, Basset-Seguin N, Grandchamp B, Soufir N.

Br J Dermatol. 2010 Apr;162(4):891-3. doi: 10.1111/j.1365-2133.2010.09644.x. Epub 2010 Feb 25. No abstract available.

PMID:
20199546
39.

A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.

Soufir N, Ged C, Bourillon A, Austerlitz F, Chemin C, Stary A, Armier J, Pham D, Khadir K, Roume J, Hadj-Rabia S, Bouadjar B, Taieb A, de Verneuil H, Benchiki H, Grandchamp B, Sarasin A.

J Invest Dermatol. 2010 Jun;130(6):1537-42. doi: 10.1038/jid.2009.409. Epub 2010 Jan 7.

40.

Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.

Denamur E, Delezoide AL, Alberti C, Bourillon A, Gubler MC, Bouvier R, Pascaud O, Elion J, Grandchamp B, Michel-Calemard L, Missy P, Zaccaria I, Le Nagard H, Gerard B, Loirat C; Société Française de Foetopathologie, Barbet J, Beaufrère AM, Berchel C, Bessières B, Boudjemaa S, Buenerd A, Carles D, Clemenson A, Dechelotte P, Devisme L, Dijoud F, Espérandieu O, Fallet C, Gonzalès M, Hillion Y, Jacob B, Joubert M, Kermanach P, Lallemand A, Laquerrière A, Laurent N, Liprandi A, Loeuillet L, Loget P, Martinovic J, Ménez F, Narcy F, Roux JJ, Rouleau-Dubois C, Sinico M, Tantau J, Wann AR.

Kidney Int. 2010 Feb;77(4):350-8. doi: 10.1038/ki.2009.440. Epub 2009 Nov 25.

41.

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.

J Clin Microbiol. 2009 Sep;47(9):3034-7. doi: 10.1128/JCM.00561-09. Epub 2009 Jul 29.

42.

Not all DMT1 mutations lead to iron overload.

Blanco E, Kannengiesser C, Grandchamp B, Tasso M, Beaumont C.

Blood Cells Mol Dis. 2009 Sep-Oct;43(2):199-201. doi: 10.1016/j.bcmd.2009.05.003. Epub 2009 Jun 24.

PMID:
19553145
43.

Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations.

Dumont B, Lasne D, Rothschild C, Bouabdelli M, Ollivier V, Oudin C, Ajzenberg N, Grandchamp B, Jandrot-Perrus M.

Blood. 2009 Aug 27;114(9):1900-3. doi: 10.1182/blood-2009-03-213504. Epub 2009 Jun 23.

PMID:
19549989
44.

Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk.

Di Lucca J, Guedj M, Lacapère JJ, Fargnoli MC, Bourillon A, Dieudé P, Dupin N, Wolkenstein P, Aegerter P, Saiag P, Descamps V, Lebbe C, Basset-Seguin N, Peris K, Grandchamp B, Soufir N.

Eur J Cancer. 2009 Dec;45(18):3228-36. doi: 10.1016/j.ejca.2009.04.034. Epub 2009 May 26.

PMID:
19477635
45.

New trends in the susceptibility to melanoma.

Soufir N, Grandchamp B, Basset-Seguin N.

Cancer Treat Res. 2009;146:213-23. doi: 10.1007/978-0-387-78574-5_19. Review. No abstract available.

PMID:
19415206
46.

Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia.

Silvestri L, Guillem F, Pagani A, Nai A, Oudin C, Silva M, Toutain F, Kannengiesser C, Beaumont C, Camaschella C, Grandchamp B.

Blood. 2009 May 28;113(22):5605-8. doi: 10.1182/blood-2008-12-195594. Epub 2009 Apr 8.

PMID:
19357398
47.

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

Stheneur C, Collod-Béroud G, Faivre L, Buyck JF, Gouya L, Le Parc JM, Moura B, Muti C, Grandchamp B, Sultan G, Claustres M, Aegerter P, Chevallier B, Jondeau G, Boileau C.

Eur J Hum Genet. 2009 Sep;17(9):1121-8. doi: 10.1038/ejhg.2009.36. Epub 2009 Mar 18.

48.

A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload.

Kannengiesser C, Jouanolle AM, Hetet G, Mosser A, Muzeau F, Henry D, Bardou-Jacquet E, Mornet M, Brissot P, Deugnier Y, Grandchamp B, Beaumont C.

Haematologica. 2009 Mar;94(3):335-9. doi: 10.3324/haematol.2008.000125. Epub 2009 Jan 27.

49.

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.

Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1326-31.

PMID:
19169489
50.

Mutations in the HFE gene and cardiovascular disease risk: an individual patient data meta-analysis of 53 880 subjects.

van der A DL, Rovers MM, Grobbee DE, Marx JJ, Waalen J, Ellervik C, Nordestgaard BG, Olynyk JK, Mills PR, Shepherd J, Grandchamp B, Boer JM, Caruso C, Arca M, Meyer BJ, van der Schouw YT.

Circ Cardiovasc Genet. 2008 Oct;1(1):43-50. doi: 10.1161/CIRCGENETICS.108.773176.

PMID:
20031541

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