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Hematologically important mutations: leukocyte adhesion deficiency (first update).
van de Vijver E, Maddalena A, Sanal Ö, Holland SM, Uzel G, Madkaikar M, de Boer M, van Leeuwen K, Köker MY, Parvaneh N, Fischer A, Law SK, Klein N, Tezcan FI, Unal E, Patiroglu T, Belohradsky BH, Schwartz K, Somech R, Kuijpers TW, Roos D. van de Vijver E, et al. Among authors: madkaikar m. Blood Cells Mol Dis. 2012 Jan 15;48(1):53-61. doi: 10.1016/j.bcmd.2011.10.004. Epub 2011 Nov 30. Blood Cells Mol Dis. 2012. PMID: 22134107 Free PMC article. Review.
Clinical and Genetic Spectrum of a Large Cohort of Patients With Leukocyte Adhesion Deficiency Type 1 and 3: A Multicentric Study From India.
Kambli PM, Bargir UA, Yadav RM, Gupta MR, Dalvi AD, Hule G, Kelkar M, Sawant-Desai S, Setia P, Jodhawat N, Nambiar N, Dhawale A, Gaikwad P, Shinde S, Taur P, Gowri V, Pandrowala A, Gupta A, Joshi V, Sharma M, Arora K, Pilania RK, Chaudhary H, Agarwal A, Katiyar S, Bhattad S, Ramprakash S, Cp R, Jayaram A, Gornale V, Raj R, Uppuluri R, Sivasankaran M, Munirathnam D, Lashkari HP, Kalra M, Sachdeva A, Sharma A, Balaji S, Govindraj GM, Karande S, Nanavati R, Manglani M, Subramanyam G, Sampagar A, Ck I, Gutha P, Kanakia S, Mundada SP, Krishna V, Nampoothiri S, Nemani S, Rawat A, Desai M, Madkaikar M. Kambli PM, et al. Among authors: madkaikar m. Front Immunol. 2020 Dec 16;11:612703. doi: 10.3389/fimmu.2020.612703. eCollection 2020. Front Immunol. 2020. PMID: 33391282 Free PMC article.
Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India.
Rawat A, Vignesh P, Sudhakar M, Sharma M, Suri D, Jindal A, Gupta A, Shandilya JK, Loganathan SK, Kaur G, Chawla S, Patra PK, Khadwal A, Saikia B, Minz RW, Aggarwal V, Taur P, Pandrowala A, Gowri V, Desai M, Kulkarni M, Hule G, Bargir U, Kambli P, Madkaikar M, Bhattad S, Ginigeri C, Kumar H, Jayaram A, Munirathnam D, Sivasankaran M, Raj R, Uppuluri R, Na F, George B, Lashkari HP, Kalra M, Sachdeva A, Seth S, Sabui T, Gupta A, van Leeuwen K, de Boer M, Chan KW, Imai K, Ohara O, Nonoyama S, Lau YL, Singh S. Rawat A, et al. Among authors: madkaikar m. Front Immunol. 2021 Feb 25;12:625320. doi: 10.3389/fimmu.2021.625320. eCollection 2021. Front Immunol. 2021. PMID: 33717137 Free PMC article.
Clinical profile of leukocyte adhesion deficiency type I.
Madkaikar M, Currimbhoy Z, Gupta M, Desai M, Rao M. Madkaikar M, et al. Indian Pediatr. 2012 Jan;49(1):43-5. doi: 10.1007/s13312-012-0005-9. Epub 2011 May 30. Indian Pediatr. 2012. PMID: 21719937
Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation.
Magerus-Chatinet A, Stolzenberg MC, Lanzarotti N, Neven B, Daussy C, Picard C, Neveux N, Desai M, Rao M, Ghosh K, Madkaikar M, Fischer A, Rieux-Laucat F. Magerus-Chatinet A, et al. Among authors: madkaikar m. J Allergy Clin Immunol. 2013 Feb;131(2):486-90. doi: 10.1016/j.jaci.2012.06.011. Epub 2012 Jul 31. J Allergy Clin Immunol. 2013. PMID: 22857792 Free PMC article.
183 results