Hossein Najmabadi

Hossein Najmabadi

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Publications by authors named "Hossein Najmabadi"

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SZT2 mutation in a boy with intellectual disability, seizures and autistic features.

Eur J Med Genet 2019 Sep 22;62(9):103556. Epub 2018 Oct 22.

Pediatrics Centre of Excellence, Department of Pediatric Neurology, Children's Medical Centre, Tehran University of Medical Sciences, Tehran, Iran.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173066
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http://dx.doi.org/10.1016/j.ejmg.2018.10.008DOI Listing
September 2019

Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants.

Am J Med Genet A 2019 Aug 11;179(8):1547-1555. Epub 2019 Jun 11.

Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.61260DOI Listing
August 2019

Homozygous variants in the gene SCAPER cause syndromic intellectual disability.

Am J Med Genet A 2019 Jul 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

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

Int J Pediatr Otorhinolaryngol 2019 Jul 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
July 2019

Novel variants in Iranian individuals suspected to have inherited red blood cell disorders, including bone marrow failure syndromes.

Haematologica 2019 May 16. Epub 2019 May 16.

Blood Transfusion Res Center, High Institute for Research and Education in Transfusion Med, Tehran.

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http://dx.doi.org/10.3324/haematol.2019.216069DOI Listing
May 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 KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment.

Arch Iran Med 2019 Apr 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

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

High expression of miR-510 was associated with CGG expansion located at upstream of FMR1 into full mutation.

J Cell Biochem 2018 Aug 30. Epub 2018 Aug 30.

Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

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http://dx.doi.org/10.1002/jcb.27505DOI Listing
August 2018

Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing.

Blood Cells Mol Dis 2018 07 22;71:39-44. Epub 2018 Feb 22.

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.bcmd.2018.02.002DOI Listing
July 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

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

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

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

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

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.

Brain 2017 11;140(11):2851-2859

Centre for Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1093/brain/awx230DOI Listing
November 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

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

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

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

First Report of a Dominantly Inherited β-Thalassemia Caused by a Novel Elongated β-Globin Chain.

Hemoglobin 2016 5;40(2):102-7. Epub 2016 Feb 5.

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

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http://dx.doi.org/10.3109/03630269.2015.1135445DOI Listing
December 2016

Identification of Mutations Causing Aberrant Termination and Deficient Splice Donor Site on the HBA1 Gene.

Hemoglobin 2016 4;40(1):38-43. Epub 2015 Nov 4.

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

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http://dx.doi.org/10.3109/03630269.2015.1088456DOI Listing
October 2016

Characterization of Homozygous Hb Setif (HBA2: c.283G>T) in the Iranian Population.

Hemoglobin 2016 16;40(1):53-5. Epub 2015 Nov 16.

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

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http://dx.doi.org/10.3109/03630269.2015.1091357DOI Listing
October 2016

Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis.

Iran Biomed J 2016 Sep 27;20(4):201-6. Epub 2016 Mar 27.

Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4983674PMC
September 2016

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

Mutations on the α2-Globin Gene That May Trigger α(+)-Thalassemia.

Hemoglobin 2015 2;39(6):398-402. Epub 2015 Sep 2.

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

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http://dx.doi.org/10.3109/03630269.2015.1075890DOI Listing
August 2016

Investigating the CFH Gene Polymorphisms as a Risk Factor for Age-related Macular Degeneration in an Iranian Population.

Ophthalmic Genet 2016 06 23;37(2):144-9. Epub 2015 Jan 23.

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

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http://dx.doi.org/10.3109/13816810.2014.955585DOI Listing
June 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

Profiling Fanconi Anemia Gene Mutations among Iranian Patients.

Arch Iran Med 2016 Apr;19(4):236-40

2)Women's College Research Institute, Women's College Hospital, University of Toronto, Toronto, Ontario, Canada. 3)Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/0161904/AIM.003DOI Listing
April 2016

Point mutations which should not be overlooked in Hb H disease.

Expert Rev Hematol 2016 Jan 2;9(1):107-13. Epub 2015 Nov 2.

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

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http://dx.doi.org/10.1586/17474086.2016.1107470DOI Listing
January 2016

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

Diagnostic pitfalls of less well recognized HbH disease.

Blood Cells Mol Dis 2015 Dec 8;55(4):387-95. Epub 2015 Aug 8.

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

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http://dx.doi.org/10.1016/j.bcmd.2015.08.003DOI Listing
December 2015

Copy number variations of six and seven α-globin genes in a family with intermedia and major thalassemia phenotypes.

Expert Rev Hematol 2015 Oct 6;8(5):693-8. Epub 2015 Aug 6.

a 1 Genetics Research Center, University of Social Welfare & Rehabilitation Sciences, Tehran, Iran.

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http://dx.doi.org/10.1586/17474086.2015.1075385DOI 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

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

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

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

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

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

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

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

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

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

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

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

Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations.

J Invest Dermatol 2014 Sep 16;134(9):2331-2338. Epub 2014 Apr 16.

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X153696
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http://dx.doi.org/10.1038/jid.2014.191DOI Listing
September 2014

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

Optimizing A Lipocomplex-Based Gene Transfer Method into HeLa Cell Line.

Cell J 2014 20;15(4):372-7. Epub 2013 Nov 20.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3866542PMC
January 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