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Page 1
Multifocal tuberculosis: a phenotype of Mendelian susceptibility to mycobacterial disease.
Gourdan P, Colanic I, Blanc S, Fina A, Baque-Juston M, Solla F, Giordano A, Hubiche T, Rohrlich P, Barlogis V, Bustamante J, Boisson-Dupuis S, Giovannini-Chami L. Gourdan P, et al. Among authors: bustamante j. Arch Dis Child. 2024 Jul 18;109(8):673. doi: 10.1136/archdischild-2024-327026. Arch Dis Child. 2024. PMID: 38740434 No abstract available.
Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease.
Grant AV, Boisson-Dupuis S, Herquelot E, de Beaucoudrey L, Filipe-Santos O, Nolan DK, Feinberg J, Boland A, Al-Muhsen S, Sanal O, Camcioglu Y, Palanduz A, Kilic SS, Bustamante J, Casanova JL, Abel L. Grant AV, et al. Among authors: bustamante j. J Med Genet. 2011 Aug;48(8):567-71. doi: 10.1136/jmg.2011.089128. Epub 2011 May 14. J Med Genet. 2011. PMID: 21572128 Free PMC article.
Mendelian susceptibility to mycobacterial disease in egyptian children.
Galal N, Boutros J, Marsafy A, Kong XF, Feinberg J, Casanova JL, Boisson-Dupuis S, Bustamante J. Galal N, et al. Among authors: bustamante j. Mediterr J Hematol Infect Dis. 2012;4(1):e2012033. doi: 10.4084/MJHID.2012.033. Epub 2012 May 7. Mediterr J Hematol Infect Dis. 2012. PMID: 22708048 Free PMC article.
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies.
Parvaneh N, Barlogis V, Alborzi A, Deswarte C, Boisson-Dupuis S, Migaud M, Farnaria C, Markle J, Parvaneh L, Casanova JL, Bustamante J. Parvaneh N, et al. Among authors: bustamante j. Pediatr Blood Cancer. 2017 Jun;64(6). doi: 10.1002/pbc.26362. Epub 2016 Nov 22. Pediatr Blood Cancer. 2017. PMID: 27873456
Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients.
Donadieu J, Lamant M, Fieschi C, de Fontbrune FS, Caye A, Ouachee M, Beaupain B, Bustamante J, Poirel HA, Isidor B, Van Den Neste E, Neel A, Nimubona S, Toutain F, Barlogis V, Schleinitz N, Leblanc T, Rohrlich P, Suarez F, Ranta D, Chahla WA, Bruno B, Terriou L, Francois S, Lioure B, Ahle G, Bachelerie F, Preudhomme C, Delabesse E, Cave H, Bellanné-Chantelot C, Pasquet M; French GATA2 study group. Donadieu J, et al. Among authors: bustamante j. Haematologica. 2018 Aug;103(8):1278-1287. doi: 10.3324/haematol.2017.181909. Epub 2018 May 3. Haematologica. 2018. PMID: 29724903 Free PMC article.
843 results