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    Sergio Baranzini, PhD

    TitleAssociate Professor in Residence
    SchoolUCSF School of Medicine
    DepartmentNeurology
    Address675 Nelson Rising Lane
    San Francisco CA 94158
    Phone415-502-6865

       Overview 
       Overview
      Sergio E. Baranzini earned his degree in clinical biochemistry from the University of Buenos Aires, Argentina, in 1992. He graduated from the same institution in 1997 obtaining a PhD with honors in human molecular genetics. The subject of his PhD thesis was the characterization of genetic mutations leading to Duchenne’s muscular dystrophy. Dr. Baranzini then moved to the University of California at San Francisco to specialize in the analysis of complex hereditary diseases, in particular multiple sclerosis. During his postdoctoral stay in UCSF Dr. Baranzini employed state-of-the art methods to explore MS pathogenesis, including immunology, molecular biology, genomics and bioinformatics. Since 2003 Dr. Baranzini is faculty in the Department of Neurology at UCSF, where he currently holds the title of Associate Professor In-Residence. His research involves the large throughout analysis of samples from MS patients to characterize the activity of genes during: i) different stages of the disease (i.e. remission vs. relapse), ii) differential response to treatment (i.e. good responders vs. poor responders), and iii) disease progression (i.e. benign vs. severe). In addition Dr. Baranzini is collaborating with several interdisciplinary teams worldwide to integrate all the available knowledge obtained in different research domains in an approach known as systems biology. Dr Baranzini’s current research involves immunological studies using the EAE model, sequencing of whole genomes and transcriptomes from patients with multiple sclerosis and developing bioinformatics tools to integrate this information with that coming from other high throughput technologies. Dr Baranzini uses a combination of “wet lab” methods including DNA microarrays, proteomics, and laser capture microdissection, in combination with “dry lab” analytical approaches encompassing bioinformatics, complexity theory, and mathematical modeling.
      Dr. Baranzini has published his research on MS in several top-tier journals like Science, Nature, PNAS, J Immunol, and PLos Biol. He is a member of the American Association of Immunologists, and an elected member of the American Neurological Association. He also serves as an ad-hoc reviewer for many specialized journals.


       Bibliographic 
       Publications
      Publications by year:
      Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
      1. Gourraud PA, Sdika M, Khankhanian P, Henry RG, Beheshtian A, Matthews PM, Hauser SL, Oksenberg JR, Pelletier D, Baranzini SE. A genome-wide association study of brain lesion distribution in multiple sclerosis. Brain. 2013 Apr; 136(Pt 4):1012-24.
        View in: PubMed
      2. Pappas DJ, Gabatto PA, Oksenberg D, Khankhanian P, Baranzini SE, Gan L, Oksenberg JR. Transcriptional expression patterns triggered by chemically distinct neuroprotective molecules. Neuroscience. 2012 Dec 13; 226:10-20.
        View in: PubMed
      3. Nickles D, Madireddy L, Yang S, Khankhanian P, Lincoln S, Hauser SL, Oksenberg JR, Baranzini SE. In depth comparison of an individual's DNA and its lymphoblastoid cell line using whole genome sequencing. BMC Genomics. 2012; 13:477.
        View in: PubMed
      4. Gourraud PA, Harbo HF, Hauser SL, Baranzini SE. The genetics of multiple sclerosis: an up-to-date review. Immunol Rev. 2012 Jul; 248(1):87-103.
        View in: PubMed
      5. Han MH, Lundgren DH, Jaiswal S, Chao M, Graham KL, Garris CS, Axtell RC, Ho PP, Lock CB, Woodard JI, Brownell SE, Zoudilova M, Hunt JF, Baranzini SE, Butcher EC, Raine CS, Sobel RA, Han DK, Weissman I, Steinman L. Janus-like opposing roles of CD47 in autoimmune brain inflammation in humans and mice. J Exp Med. 2012 Jul 2; 209(7):1325-34.
        View in: PubMed
      6. Su SY, Kasberger J, Baranzini S, Byerley W, Liao W, Oksenberg J, Sherr E, Jorgenson E. Detection of identity by descent using next-generation whole genome sequencing data. BMC Bioinformatics. 2012; 13:121.
        View in: PubMed
      7. Baranzini SE, Nickles D. Genetics of multiple sclerosis: swimming in an ocean of data. Curr Opin Neurol. 2012 Jun; 25(3):239-45.
        View in: PubMed
      8. Villoslada P, Baranzini S. Data integration and systems biology approaches for biomarker discovery: challenges and opportunities for multiple sclerosis. J Neuroimmunol. 2012 Jul 15; 248(1-2):58-65.
        View in: PubMed
      9. Wang L, Khankhanian P, Baranzini SE, Mousavi P. iCTNet: a Cytoscape plugin to produce and analyze integrative complex traits networks. BMC Bioinformatics. 2011; 12:380.
        View in: PubMed
      10. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature. 2011 Aug 11; 476(7359):214-9.
        View in: PubMed
      11. Fancy SP, Harrington EP, Yuen TJ, Silbereis JC, Zhao C, Baranzini SE, Bruce CC, Otero JJ, Huang EJ, Nusse R, Franklin RJ, Rowitch DH. Axin2 as regulatory and therapeutic target in newborn brain injury and remyelination. Nat Neurosci. 2011 Aug; 14(8):1009-16.
        View in: PubMed
      12. Haghikia A, Perrech M, Pula B, Ruhrmann S, Potthoff A, Brockmeyer NH, Goelz S, Wiendl H, Lindå H, Ziemssen T, Baranzini SE, Käll TB, Bengel D, Olsson T, Gold R, Chan A. Functional energetics of CD4+-cellular immunity in monoclonal antibody-associated progressive multifocal leukoencephalopathy in autoimmune disorders. PLoS One. 2011; 6(4):e18506.
        View in: PubMed
      13. Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M. Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. J Med Genet. 2011 Jun; 48(6):375-82.
        View in: PubMed
      14. Wang JH, Pappas D, De Jager PL, Pelletier D, de Bakker PI, Kappos L, Polman CH. Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data. Genome Med. 2011; 3(1):3.
        View in: PubMed
      15. Baranzini SE. Revealing the genetic basis of multiple sclerosis: are we there yet? Curr Opin Genet Dev. 2011 Jun; 21(3):317-24.
        View in: PubMed
      16. Sorani MD, Manley GT, Claude Hemphill J, Baranzini SE. Dynamic, multi-level network models of clinical trials. Pac Symp Biocomput. 2011; 38-49.
        View in: PubMed
      17. Fancy SP, Chan JR, Baranzini SE, Franklin RJ, Rowitch DH. Myelin regeneration: a recapitulation of development? Annu Rev Neurosci. 2011; 34:21-43.
        View in: PubMed
      18. Khankhanian P, Gourraud PA, Caillier SJ, Santaniello A, Hauser SL, Baranzini SE, Oksenberg JR. Genetic variation in the odorant receptors family 13 and the mhc loci influence mate selection in a multiple sclerosis dataset. BMC Genomics. 2010; 11:626.
        View in: PubMed
      19. Baranzini SE, Srinivasan R, Khankhanian P, Okuda DT, Nelson SJ, Matthews PM, Hauser SL, Oksenberg JR, Pelletier D. Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis. Brain. 2010 Sep; 133(9):2603-11.
        View in: PubMed
      20. Oksenberg JR, Baranzini SE. Multiple sclerosis genetics--is the glass half full, or half empty? Nat Rev Neurol. 2010 Aug; 6(8):429-37.
        View in: PubMed
      21. Baranzini SE, Mudge J, van Velkinburgh JC, Khankhanian P, Khrebtukova I, Miller NA, Zhang L, Farmer AD, Bell CJ, Kim RW, May GD, Woodward JE, Caillier SJ, McElroy JP, Gomez R, Pando MJ, Clendenen LE, Ganusova EE, Schilkey FD, Ramaraj T, Khan OA, Huntley JJ, Luo S, Kwok PY, Wu TD, Schroth GP, Oksenberg JR, Hauser SL, Kingsmore SF. Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis. Nature. 2010 Apr 29; 464(7293):1351-6.
        View in: PubMed
      22. Baranzini SE. The genetics of autoimmune diseases: a networked perspective. Curr Opin Immunol. 2009 Dec; 21(6):596-605.
        View in: PubMed
      23. Otaegui D, Baranzini SE, Armañanzas R, Calvo B, Muñoz-Culla M, Khankhanian P, Inza I, Lozano JA, Castillo-Triviño T, Asensio A, Olaskoaga J, López de Munain A. Differential micro RNA expression in PBMC from multiple sclerosis patients. PLoS One. 2009; 4(7):e6309.
        View in: PubMed
      24. Pappas DJ, Coppola G, Gabatto PA, Gao F, Geschwind DH, Oksenberg JR, Baranzini SE. Longitudinal system-based analysis of transcriptional responses to type I interferons. Physiol Genomics. 2009 Aug 7; 38(3):362-71.
        View in: PubMed
      25. De Jager PL, Jia X, Wang J, de Bakker PI, Ottoboni L, Aggarwal NT, Piccio L, Raychaudhuri S, Tran D, Aubin C, Briskin R, Romano S. Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. Nat Genet. 2009 Jul; 41(7):776-82.
        View in: PubMed
      26. Fancy SP, Baranzini SE, Zhao C, Yuk DI, Irvine KA, Kaing S, Sanai N, Franklin RJ, Rowitch DH. Dysregulation of the Wnt pathway inhibits timely myelination and remyelination in the mammalian CNS. Genes Dev. 2009 Jul 1; 23(13):1571-85.
        View in: PubMed
      27. Baranzini SE, Galwey NW, Wang J, Khankhanian P, Lindberg R, Pelletier D, Wu W, Uitdehaag BM, Kappos L. Pathway and network-based analysis of genome-wide association studies in multiple sclerosis. Hum Mol Genet. 2009 Jun 1; 18(11):2078-90.
        View in: PubMed
      28. Villoslada P, Steinman L, Baranzini SE. Systems biology and its application to the understanding of neurological diseases. Ann Neurol. 2009 Feb; 65(2):124-39.
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      29. Okuda DT, Mowry EM, Beheshtian A, Waubant E, Baranzini SE, Goodin DS, Hauser SL, Pelletier D. Incidental MRI anomalies suggestive of multiple sclerosis: the radiologically isolated syndrome. Neurology. 2009 Mar 3; 72(9):800-5.
        View in: PubMed
      30. Okuda DT, Srinivasan R, Oksenberg JR, Goodin DS, Baranzini SE, Beheshtian A, Waubant E, Zamvil SS, Leppert D, Qualley P, Lincoln R, Gomez R, Caillier S, George M, Wang J, Nelson SJ, Cree BA, Hauser SL, Pelletier D. Genotype-Phenotype correlations in multiple sclerosis: HLA genes influence disease severity inferred by 1HMR spectroscopy and MRI measures. Brain. 2009 Jan; 132(Pt 1):250-9.
        View in: PubMed
      31. Baranzini SE, Wang J, Gibson RA, Galwey N, Naegelin Y, Barkhof F, Radue EW, Lindberg RL, Uitdehaag BM, Johnson MR, Angelakopoulou A, Hall L, Richardson JC, Prinjha RK, Gass A, Geurts JJ, Kragt J, Sombekke M, Vrenken H, Qualley P, Lincoln RR, Gomez R, Caillier SJ, George MF, Mousavi H, Guerrero R, Okuda DT, Cree BA, Green AJ, Waubant E, Goodin DS, Pelletier D, Matthews PM, Hauser SL, Kappos L, Polman CH, Oksenberg JR. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. Hum Mol Genet. 2009 Feb 15; 18(4):767-78.
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      32. Comabella M, Río J, Espejo C, Ruiz de Villa M, Al-Zayat H, Nos C, Deisenhammer F, Baranzini SE, Nonell L, López C, Julià E, Oksenberg JR, Montalban X. Changes in matrix metalloproteinases and their inhibitors during interferon-beta treatment in multiple sclerosis. Clin Immunol. 2009 Feb; 130(2):145-50.
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      33. Caillier SJ, Briggs F, Cree BA, Baranzini SE, Fernandez-Viña M, Ramsay PP, Khan O, Royal W, Hauser SL, Barcellos LF, Oksenberg JR. Uncoupling the roles of HLA-DRB1 and HLA-DRB5 genes in multiple sclerosis. J Immunol. 2008 Oct 15; 181(8):5473-80.
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      34. Corvol JC, Pelletier D, Henry RG, Caillier SJ, Wang J, Pappas D, Casazza S, Okuda DT, Hauser SL, Oksenberg JR, Baranzini SE. Abrogation of T cell quiescence characterizes patients at high risk for multiple sclerosis after the initial neurological event. Proc Natl Acad Sci U S A. 2008 Aug 19; 105(33):11839-44.
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      35. Oksenberg JR, Baranzini SE, Sawcer S, Hauser SL. The genetics of multiple sclerosis: SNPs to pathways to pathogenesis. Nat Rev Genet. 2008 Jul; 9(7):516-26.
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      36. Hunt CA, Baranzini S, Matthay MA, Park S. A framework and mechanistically focused, in silico method for enabling rational translational research. Summit on Translat Bioinforma. 2008; 2008:46-50.
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      37. Han MH, Hwang SI, Roy DB, Lundgren DH, Price JV, Ousman SS, Fernald GH, Gerlitz B, Robinson WH, Baranzini SE, Grinnell BW, Raine CS, Sobel RA, Han DK, Steinman L. Proteomic analysis of active multiple sclerosis lesions reveals therapeutic targets. Nature. 2008 Feb 28; 451(7182):1076-81.
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      38. Goertsches R, Baranzini SE, Morcillo C, Nos C, Camiña M, Oksenberg JR, Montalban X, Comabella M. Evidence for association of chromosome 10 open reading frame (C10orf27) gene polymorphisms and multiple sclerosis. Mult Scler. 2008 Apr; 14(3):412-4.
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      39. Byun E, Caillier SJ, Montalban X, Villoslada P, Fernández O, Brassat D, Comabella M, Wang J, Barcellos LF, Baranzini SE, Oksenberg JR. Genome-wide pharmacogenomic analysis of the response to interferon beta therapy in multiple sclerosis. Arch Neurol. 2008 Mar; 65(3):337-44.
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      40. Otaegui D, Mostafavi S, Bernard CC, Lopez de Munain A, Mousavi P, Oksenberg JR, Baranzini SE. Increased transcriptional activity of milk-related genes following the active phase of experimental autoimmune encephalomyelitis and multiple sclerosis. J Immunol. 2007 Sep 15; 179(6):4074-82.
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      41. Sriram U, Wong M, Caillier SJ, Hecht FM, Elkins MK, Levy JA, Oksenberg JR, Baranzini SE. Quantitative longitudinal analysis of T cell receptor repertoire expression in HIV-infected patients on antiretroviral and interleukin-2 therapy. AIDS Res Hum Retroviruses. 2007 May; 23(5):741-7.
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      42. Fernald GH, Knott S, Pachner A, Caillier SJ, Narayan K, Oksenberg JR, Mousavi P, Baranzini SE. Genome-wide network analysis reveals the global properties of IFN-beta immediate transcriptional effects in humans. J Immunol. 2007 Apr 15; 178(8):5076-85.
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      43. Pedemonte E, Benvenuto F, Casazza S, Mancardi G, Oksenberg JR, Uccelli A, Baranzini SE. The molecular signature of therapeutic mesenchymal stem cells exposes the architecture of the hematopoietic stem cell niche synapse. BMC Genomics. 2007; 8:65.
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      44. Dunn SE, Ousman SS, Sobel RA, Zuniga L, Baranzini SE, Youssef S, Crowell A, Loh J, Oksenberg J, Steinman L. Peroxisome proliferator-activated receptor (PPAR)alpha expression in T cells mediates gender differences in development of T cell-mediated autoimmunity. J Exp Med. 2007 Feb 19; 204(2):321-30.
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      45. Baranzini SE. Systems-based medicine approaches to understand and treat complex diseases. The example of multiple sclerosis. Autoimmunity. 2006 Dec; 39(8):651-62.
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      46. Barcellos LF, Sawcer S, Ramsay PP, Baranzini SE, Thomson G, Briggs F, Cree BC, Begovich AB, Villoslada P, Montalban X, Uccelli A, Savettieri G, Lincoln RR, DeLoa C, Haines JL, Pericak-Vance MA, Compston A, Hauser SL, Oksenberg JR. Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis. Hum Mol Genet. 2006 Sep 15; 15(18):2813-24.
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      47. Mostafavi S, Baranzini S, Oksernberg J, Mousavi P. Predictive modeling of therapy response in multiple sclerosis using gene expression data. Conf Proc IEEE Eng Med Biol Soc. 2006; 1:5519-22.
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      48. Fernald GH, Yeh RF, Hauser SL, Oksenberg JR, Baranzini SE. Mapping gene activity in complex disorders: Integration of expression and genomic scans for multiple sclerosis. J Neuroimmunol. 2005 Oct; 167(1-2):157-69.
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      49. Baranzini SE, Bernard CC, Oksenberg JR. Modular transcriptional activity characterizes the initiation and progression of autoimmune encephalomyelitis. J Immunol. 2005 Jun 1; 174(11):7412-22.
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      50. Baranzini SE, Oksenberg JR. Genomics and new targets for multiple sclerosis. Pharmacogenomics. 2005 Mar; 6(2):151-61.
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      51. Elkins MK, Vittinghoff E, Baranzini SE, Hecht FM, Sriram U, Busch MP, Levy JA, Oksenberg JR. Longitudinal analysis of B cell repertoire and antibody gene rearrangements during early HIV infection. Genes Immun. 2005 Feb; 6(1):66-9.
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      52. Baranzini SE, Mousavi P, Rio J, Caillier SJ, Stillman A, Villoslada P, Wyatt MM, Comabella M, Greller LD, Somogyi R, Montalban X, Oksenberg JR. Transcription-based prediction of response to IFNbeta using supervised computational methods. PLoS Biol. 2005 Jan; 3(1):e2.
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      53. Baranzini SE. Gene expression profiling in neurological disorders: toward a systems-level understanding of the brain. Neuromolecular Med. 2004; 6(1):31-51.
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      54. Oksenberg JR, Barcellos LF, Cree BA, Baranzini SE, Bugawan TL, Khan O, Lincoln RR, Swerdlin A, Mignot E, Lin L, Goodin D, Erlich HA, Schmidt S, Thomson G, Reich DE, Pericak-Vance MA, Haines JL, Hauser SL. Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans. Am J Hum Genet. 2004 Jan; 74(1):160-7.
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      55. Huuskonen J, Abedin M, Vishnu M, Pullinger CR, Baranzini SE, Kane JP, Fielding PE, Fielding CJ. Dynamic regulation of alternative ATP-binding cassette transporter A1 transcripts. Biochem Biophys Res Commun. 2003 Jun 27; 306(2):463-8.
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      56. Caillier S, Barcellos LF, Baranzini SE, Swerdlin A, Lincoln RR, Steinman L, Martin E, Haines JL, Pericak-Vance M, Hauser SL, Oksenberg JR. Osteopontin polymorphisms and disease course in multiple sclerosis. Genes Immun. 2003 Jun; 4(4):312-5.
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      57. Giliberto F, Ferreiro V, Dalamón V, Surace E, Cotignola J, Esperante S, Borelina D, Baranzini S, Szijan I. Direct deletion analysis in two Duchenne muscular dystrophy symptomatic females using polymorphic dinucleotide (CA)n loci within the dystrophin gene. J Biochem Mol Biol. 2003 Mar 31; 36(2):179-84.
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      58. Sriram U, Barcellos LF, Villoslada P, Rio J, Baranzini SE, Caillier S, Stillman A, Hauser SL, Montalban X, Oksenberg JR. Pharmacogenomic analysis of interferon receptor polymorphisms in multiple sclerosis. Genes Immun. 2003 Mar; 4(2):147-52.
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      59. Baranzini SE, Hauser SL. Large-scale gene-expression studies and the challenge of multiple sclerosis. Genome Biol. 2002 Sep 16; 3(10):reviews1027.
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      60. Villoslada P, Barcellos LF, Rio J, Begovich AB, Tintore M, Sastre-Garriga J, Baranzini SE, Casquero P, Hauser SL, Montalban X, Oksenberg JR. The HLA locus and multiple sclerosis in Spain. Role in disease susceptibility, clinical course and response to interferon-beta. J Neuroimmunol. 2002 Sep; 130(1-2):194-201.
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      61. Baranzini SE, Laxer K, Bollen A, Oksenberg JR. Gene expression analysis reveals altered brain transcription of glutamate receptors and inflammatory genes in a patient with chronic focal (Rasmussen's) encephalitis. J Neuroimmunol. 2002 Jul; 128(1-2):9-15.
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      62. Baranzini SE, Laxer K, Saketkhoo R, Elkins MK, Parent JM, Mantegazza R, Oksenberg JR. Analysis of antibody gene rearrangement, usage, and specificity in chronic focal encephalitis. Neurology. 2002 Mar 12; 58(5):709-16.
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      63. Baranzini SE, Oksenberg JR, Hauser SL. New insights into the genetics of multiple sclerosis. J Rehabil Res Dev. 2002 Mar-Apr; 39(2):201-9.
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      64. Chabas D, Baranzini SE, Mitchell D, Bernard CC, Rittling SR, Denhardt DT, Sobel RA, Lock C, Karpuj M, Pedotti R, Heller R, Oksenberg JR, Steinman L. The influence of the proinflammatory cytokine, osteopontin, on autoimmune demyelinating disease. Science. 2001 Nov 23; 294(5547):1731-5.
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      65. Oksenberg JR, Baranzini SE, Barcellos LF, Hauser SL. Multiple sclerosis: genomic rewards. J Neuroimmunol. 2001 Feb 15; 113(2):171-84.
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      66. Baranzini SE, Elfstrom C, Chang SY, Butunoi C, Murray R, Higuchi R, Oksenberg JR. Transcriptional analysis of multiple sclerosis brain lesions reveals a complex pattern of cytokine expression. J Immunol. 2000 Dec 1; 165(11):6576-82.
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      67. Baranzini SE, Jeong MC, Butunoi C, Murray RS, Bernard CC, Oksenberg JR. B cell repertoire diversity and clonal expansion in multiple sclerosis brain lesions. J Immunol. 1999 Nov 1; 163(9):5133-44.
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      68. Baranzini SE, Giliberto F, Dalamon V, Barreiro C, García-Erro M, Grippo J, Szijan I. Carrier detection in Duchenne and Becker muscular dystrophy Argentine families. Clin Genet. 1998 Dec; 54(6):503-11.
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      69. Baranzini SE, Giliberto F, Herrera M, Bernath V, Barreiro C, Garcia Erro M, Grippo J, Szijan I. Deletion patterns in Argentine patients with Duchenne and Becker muscular dystrophy. Neurol Res. 1998 Jul; 20(5):409-414.
        View in: PubMed
      70. Arbetman A, Abdala M, Fandiño A, Herrera J, Baranzini S, Borelina D, Parma D, Manzitti J, Barreiro C, Giliberto F, Szijan I. Clinical, cytogenetic, and molecular testing of Argentine patients with retinoblastoma. J AAPOS. 1998 Apr; 2(2):102-7.
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      71. Baranzini SE, Lenk U, Szijan I, Speer A. Four new polymorphisms in the human dystrophin gene from an Argentinian population. Muscle Nerve. 1997 Nov; 20(11):1451-3.
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      72. Baranzini SE, del Rey G, Nigro N, Szijan I, Chamoles N, Cresto JC. Patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosum. Am J Med Genet. 1997 Jun 13; 70(3):216-21.
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      73. di Fulvio M, Chiesa AE, Baranzini SE, Gruñiero-Papendieck L, Masini-Repiso AM, Targovnik HM. A new point mutation (M313T) in the thyroid hormone receptor beta gene in a patient with resistance to thyroid hormone. Thyroid. 1997 Feb; 7(1):43-4.
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