Publications by authors named "Kimia Kahrizi"

100Publications

Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum.

Arch Iran Med 2020 Jul 1;23(7):426-433. Epub 2020 Jul 1.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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http://dx.doi.org/10.34172/aim.2020.39DOI Listing
July 2020

Limbic System Associated Membrane Protein Mutation in an Iranian Family Diagnosed with Ménière's Disease.

Arch Iran Med 2020 05 1;23(5):319-325. Epub 2020 May 1.

ENT and Head & Neck Research Center and Department, Hazrat Rasoul Hospital, The Five Senses Institute, Iran University of Medical Sciences, Tehran, Iran.

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http://dx.doi.org/10.34172/aim.2020.21DOI Listing
May 2020

A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features.

Eur J Med Genet 2020 Apr 15;63(4):103849. Epub 2020 Jan 15.

Cellular and Molecular Research Centre, Qazvin University of Medical Sciences, Qazvin, Iran. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103849DOI Listing
April 2020

G130V de novo mutation in an Iranian pedigree with nonsyndromic hearing loss without palmoplantar keratoderma.

Int J Pediatr Otorhinolaryngol 2019 Nov 26;126:109607. Epub 2019 Jul 26.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2019.109607DOI Listing
November 2019

Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment.

Arch Iran Med 2019 04 1;22(4):189-197. Epub 2019 Apr 1.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Evin, Tehran 19834, Iran.

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April 2019

Homozygous variants in the gene SCAPER cause syndromic intellectual disability.

Am J Med Genet A 2019 07 9;179(7):1214-1225. Epub 2019 May 9.

Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61172
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http://dx.doi.org/10.1002/ajmg.a.61172DOI Listing
July 2019

Whole-Transcriptome Analysis Reveals Dysregulation of Actin-Cytoskeleton Pathway in Intellectual Disability Patients.

Neuroscience 2019 04 10;404:423-444. Epub 2019 Feb 10.

Genetic Research Center, University of social welfare and Rehabilitation Sciences, Tehran, Iran. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03064522193004
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http://dx.doi.org/10.1016/j.neuroscience.2019.01.029DOI Listing
April 2019

Novel mutations in MYTH4-FERM domains of myosin 15 are associated with autosomal recessive nonsyndromic hearing loss.

Int J Pediatr Otorhinolaryngol 2019 Feb 23;117:115-126. Epub 2018 Nov 23.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01655876183058
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http://dx.doi.org/10.1016/j.ijporl.2018.11.025DOI Listing
February 2019

GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability.

Am J Med Genet A 2019 01 14;179(1):13-19. Epub 2018 Dec 14.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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http://dx.doi.org/10.1002/ajmg.a.40531DOI Listing
January 2019

CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability.

Am J Med Genet B Neuropsychiatr Genet 2018 12 18;177(8):691-699. Epub 2018 Nov 18.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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http://dx.doi.org/10.1002/ajmg.b.32648DOI Listing
December 2018

tRNA Methyltransferase Defects and Intellectual Disability.

Arch Iran Med 2018 10 1;21(10):478-485. Epub 2018 Oct 1.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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October 2018

Old gene, new phenotype: splice-altering variants in cause recessive non-syndromic hearing impairment.

J Med Genet 2018 08 27;55(8):555-560. Epub 2018 Apr 27.

Molecular Otolaryngology Renal Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, Iowa, USA.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2018-105349
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http://dx.doi.org/10.1136/jmedgenet-2018-105349DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060001PMC
August 2018

Calpains: Diverse Functions but Enigmatic.

Arch Iran Med 2018 04 1;21(4):170-179. Epub 2018 Apr 1.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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April 2018

Intellectual Disability and Ataxia: Genetic Collisions.

Arch Iran Med 2018 01 1;21(1):29-40. Epub 2018 Jan 1.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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January 2018

Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation.

Neuromuscul Disord 2018 04 12;28(4):303-314. Epub 2018 Jan 12.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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http://dx.doi.org/10.1016/j.nmd.2018.01.001DOI Listing
April 2018

SLC52A2 mutations cause SCABD2 phenotype: A second report.

Int J Pediatr Otorhinolaryngol 2018 Jan 20;104:195-199. Epub 2017 Nov 20.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2017.11.014DOI Listing
January 2018

Exonic mutations and exon skipping: Lessons learned from DFNA5.

Hum Mutat 2018 03 11;39(3):433-440. Epub 2018 Jan 11.

Department of Otolaryngology-Head Neck Surgery, Molecular Otolaryngology Renal Research Laboratories, University of Iowa, Iowa City, Iowa.

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http://dx.doi.org/10.1002/humu.23384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5805621PMC
March 2018

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Am J Hum Genet 2017 Sep 17;101(3):428-440. Epub 2017 Aug 17.

Laboratoire de Diagnostic Génétique, Hôpitaux Universitaire de Strasbourg, 67000 Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67400 Illkirch, France; Centre National de la Recherche Scientifique, UMR7104, 67400 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, 67400 Illkirch, France; Université de Strasbourg, 67400 Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297173028
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http://dx.doi.org/10.1016/j.ajhg.2017.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590842PMC
September 2017

LGMD2E is the most common type of sarcoglycanopathies in the Iranian population.

J Neurogenet 2017 09 7;31(3):161-169. Epub 2017 Jul 7.

c Department of Neurology , Tehran University of Medical Sciences , Tehran , Iran.

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http://dx.doi.org/10.1080/01677063.2017.1346093DOI Listing
September 2017

disease: Phenotype clarification and genotype-phenotype correlation.

Neurol Genet 2017 Jun 26;3(3):e148. Epub 2017 May 26.

Department of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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http://dx.doi.org/10.1212/NXG.0000000000000148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5446782PMC
June 2017

Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.

J Genet 2016 Sep;95(3):667-74

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Koodakyar Alley, Daneshjoo Blvd., Evin St., 1985713834 Tehran,

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http://dx.doi.org/10.1007/s12041-016-0682-6DOI Listing
September 2016

Genetic Studies in Intellectual Disability and Behavioral Impairment.

Arch Iran Med 2016 May;19(5):363-75

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Evin, Tehran 19834, Iran.

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http://dx.doi.org/0161905/AIM.0012DOI Listing
May 2016

Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.

Neuromuscul Disord 2016 Apr-May;26(4-5):277-82. Epub 2016 Feb 15.

Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966153008
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http://dx.doi.org/10.1016/j.nmd.2016.02.003DOI Listing
January 2017

Genetic Investigation of an Iranian Supercentenarian by Whole Exome Sequencing.

Arch Iran Med 2015 Oct;18(10):688-97

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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http://dx.doi.org/0151810/AIM.009DOI Listing
October 2015

Carrier Testing in Known Autosomal Recessive Intellectual Disability Genes in an Iranian Healthy Individual Using Exome Sequencing.

Arch Iran Med 2015 Oct;18(10):643-69

1)Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. 3)Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.

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http://dx.doi.org/0151810/AIM.006DOI Listing
October 2015

Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families.

J Genet 2015 Sep;94(3):483-7

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran 1985713834, Iran.

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http://dx.doi.org/10.1007/s12041-015-0537-6DOI Listing
September 2015

PDZD7 and hearing loss: More than just a modifier.

Am J Med Genet A 2015 Dec 29;167A(12):2957-65. Epub 2015 Sep 29.

Department of Otolaryngology-Head Neck Surgery, Molecular Otolaryngology Renal Research Laboratories, University of Iowa, Iowa City, Iowa.

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http://doi.wiley.com/10.1002/ajmg.a.37274
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http://dx.doi.org/10.1002/ajmg.a.37274DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4741280PMC
December 2015

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.

Am J Hum Genet 2015 Mar 19;96(3):386-96. Epub 2015 Feb 19.

Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen 6500 HB, the Netherlands; Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition, and Behavior, Radboud university medical center, Nijmegen 6500 HB, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375531PMC
March 2015

A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II.

J Genet 2014 Dec;93(3):837-41

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran 1985713834, Iran.

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http://dx.doi.org/10.1007/s12041-014-0443-3DOI Listing
December 2014

Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy.

Arch Iran Med 2015 Jan;18(1):60-4

Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.

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http://dx.doi.org/0151801/AIM.0014DOI Listing
January 2015

Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of hearing loss in Iranian population.

Int J Pediatr Otorhinolaryngol 2015 Feb 3;79(2):136-8. Epub 2014 Dec 3.

Genetic Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2014.11.024DOI Listing
February 2015

Genetics of non-syndromic hearing loss in the Middle East.

Int J Pediatr Otorhinolaryngol 2014 Dec 4;78(12):2026-36. Epub 2014 Sep 4.

Genetics Research Centre (GRC), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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http://dx.doi.org/10.1016/j.ijporl.2014.08.036DOI Listing
December 2014

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

Am J Hum Genet 2014 Oct 25;95(4):445-53. Epub 2014 Sep 25.

Molecular Otolaryngology & Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA; Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, IA 52242, USA; Department of Molecular Physiology & Biophysics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4185121PMC
October 2014

Identification of a founder mutation for Pendred syndrome in families from northwest Iran.

Int J Pediatr Otorhinolaryngol 2014 Nov 1;78(11):1828-32. Epub 2014 Sep 1.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences (USWR), Tehran, Iran. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2014.08.035DOI Listing
November 2014

NDST1 missense mutations in autosomal recessive intellectual disability.

Am J Med Genet A 2014 Nov 14;164A(11):2753-63. Epub 2014 Aug 14.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36723DOI Listing
November 2014

Association of polymorphisms at LDLR locus with coronary artery disease independently from lipid profile.

Acta Med Iran 2014 ;52(5):352-9

Department of Genetics, Genetic Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran

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July 2015

Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.

J Hum Genet 2014 Jul 22;59(7):368-75. Epub 2014 May 22.

1] Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran [2] Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.

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http://dx.doi.org/10.1038/jhg.2014.28DOI Listing
July 2014

A Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly.

Iran J Child Neurol 2013 ;7(2):23-30

Professor of Medical Genetics, Genetics Research Center, University of Social Welfare & Rehabilitation Sciences, Tehran, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943041PMC
March 2014

Correlation between distribution of muscle weakness, electrophysiological findings and CTG expansion in myotonic dystrophy.

J Clin Neurosci 2014 Jul 18;21(7):1123-6. Epub 2013 Nov 18.

Department of Neurology, Tehran University of Medical Sciences, Shariati Hospital, North Karegar Street, Tehran 14114, Iran. Electronic address:

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http://dx.doi.org/10.1016/j.jocn.2013.09.016DOI Listing
July 2014

Serotonin Transporter Polymorphism (5-HTTLPR) and Citalopram Effectiveness in Iranian Patients with Major Depressive Disorder.

Iran J Psychiatry 2013 Jun;8(2):86-91

Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3796299PMC
June 2013

A novel mutation in MCPH1 gene in an Iranian family with primary microcephaly.

J Pak Med Assoc 2012 Nov;62(11):1244-7

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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November 2012

A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran.

Am J Med Genet A 2012 Oct 17;158A(10):2485-92. Epub 2012 Aug 17.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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http://dx.doi.org/10.1002/ajmg.a.35572DOI Listing
October 2012

Mutational screening of ARX gene in Iranian families with X-linked intellectual disability.

Arch Iran Med 2012 Jun;15(6):361-5

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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http://dx.doi.org/012156/AIM.009DOI Listing
June 2012

Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss.

Int J Pediatr Otorhinolaryngol 2012 Feb 14;76(2):268-71. Epub 2011 Dec 14.

Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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http://dx.doi.org/10.1016/j.ijporl.2011.11.019DOI Listing
February 2012

Did the GJB2 35delG mutation originate in Iran?

Am J Med Genet A 2011 Oct 9;155A(10):2453-8. Epub 2011 Sep 9.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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http://dx.doi.org/10.1002/ajmg.a.34225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432473PMC
October 2011

Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.

Eur J Pediatr 2010 Dec 27;169(12):1535-9. Epub 2010 Jul 27.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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http://link.springer.com/10.1007/s00431-010-1267-7
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http://dx.doi.org/10.1007/s00431-010-1267-7DOI Listing
December 2010

miRNA mutations are not a common cause of deafness.

Am J Med Genet A 2010 Mar;152A(3):646-52

Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1002/ajmg.a.33299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2830307PMC
March 2010

Human male infertility caused by mutations in the CATSPER1 channel protein.

Am J Hum Genet 2009 Apr 2;84(4):505-10. Epub 2009 Apr 2.

Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, MI 48109-0618, USA.

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http://dx.doi.org/10.1016/j.ajhg.2009.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2667975PMC
April 2009

Deletions in the survival motor neuron gene in Iranian patients with spinal muscular atrophy.

Ann Acad Med Singap 2009 Feb;38(2):139-41

Kariminejad-Najmabadi Pathology & Genetics Center, 14665/154 Tehran, Iran.

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February 2009

Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.

BMJ Case Rep 2009 23;2009. Epub 2009 Jan 23.

Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1136/bcr.08.2008.0645DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3028019PMC
November 2011