Publications by authors named "Ariana Kariminejad"

91Publications

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

Arch Iran Med 2020 07 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

Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica.

Hum Mutat 2020 05 25;41(5):906-912. Epub 2020 Jan 25.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/humu.23980DOI Listing
May 2020

Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.

Am J Hum Genet 2019 12 21;105(6):1294-1301. Epub 2019 Nov 21.

Institute of Medical Biology, Agency for Science, Technology, and Research, 8A Biomedical Grove, Singapore 138648, Republic of Singapore; Institute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore; Department of Medical Genetics, Koç University, School of Medicine, 34010 Topkapı, Istanbul, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6904794PMC
December 2019

Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out".

Matrix Biol 2019 10 11;83:48-59. Epub 2019 Jul 11.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.matbio.2019.07.002DOI Listing
October 2019

Homozygous deletion of the entire AAAS gene in a triple A syndrome patient.

Eur J Med Genet 2019 Jul 6;62(7):103665. Epub 2019 May 6.

Children's Hospital, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse 74, 01307, Dresden, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2019.05.004DOI Listing
July 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

Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a variant.

Neurol Genet 2018 Dec 3;4(6):e295. Epub 2018 Dec 3.

Medical Genetics Laboratory (M. Sedghi), Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran; Department of Neurology (M. Salari), Shahid Beheshti University of Medical Science, Tehran, Iran; Department of Pathology (A.-R.M.), University of Gothenburg, Sahlgrenska University Hospital, Sweden; Kariminejad-Najmabadi Pathology & Genetics Center (A.K.), Tehran, Iran; Department of Diagnostic Genomics (M.D.), Pathwest, QEII Medical Centre; Centre for Medical Research (H.G., N.L., H.T.), The University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Australia; School of Bioscience (B.O.), University of Skovde; and Division Biomedicine (H.T.), School of Health and Education, University of Skovde, Sweden.

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http://dx.doi.org/10.1212/NXG.0000000000000295DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283458PMC
December 2018

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

Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction.

Neurol Genet 2018 Oct 5;4(5):e276. Epub 2018 Oct 5.

Centre for Medical Research (R.G.L., A.-M.J.S., M. Stentenbach, H.G., O.R., N.G.L., H.T., A.F.), University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia; Department of Genetics (M. Sedghi), University of Isfahan, Isfahan; Functional Neurosurgery Research Center (M. Salari), Shohada Tajrish Neurosurgical Center of Excellence, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Kariminejad-Najmabadi Pathology and Genetics Center (A.K.), Tehran, Iran; School of Molecular Sciences (O.R., A.F.), The University of Western Australia, Crawley; Department of Diagnostic Genomics (N.G.L.), PathWest, QEII Medical Centre, Nedlands, Western Australia, Australia; and Division Biomedicine and Public Health (H.T.), School of Health and Education, University of Skovde, Sweden.

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http://dx.doi.org/10.1212/NXG.0000000000000276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186023PMC
October 2018

Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.

Neurology 2018 04 21;90(16):e1395-e1403. Epub 2018 Mar 21.

From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000005334DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902784PMC
April 2018

Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran.

Eur J Med Genet 2018 Mar 26;61(3):139-144. Epub 2017 Nov 26.

Department of Pediatrics, UNMC Child Health Research Institute, University of Nebraska Medical Center, Omaha, NE, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173072
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http://dx.doi.org/10.1016/j.ejmg.2017.11.006DOI Listing
March 2018

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.

Matrix Biol 2018 03 11;66:22-33. Epub 2017 Nov 11.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0945053X173024
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http://dx.doi.org/10.1016/j.matbio.2017.11.003DOI Listing
March 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

Alx4 relays sequential FGF signaling to induce lacrimal gland morphogenesis.

PLoS Genet 2017 Oct 13;13(10):e1007047. Epub 2017 Oct 13.

Departments of Ophthalmology, Pathology and Cell Biology, Columbia University, New York, NY, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1007047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656309PMC
October 2017

Juvenile nephronophthisis and dysthyroidism: a rare association.

CEN Case Rep 2017 May 13;6(1):98-104. Epub 2017 Mar 13.

Shahrak of Gharb (Qods) pathologic and genetic center, Tehran, Iran.

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http://dx.doi.org/10.1007/s13730-017-0252-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5438816PMC
May 2017

Analysis of in pediatric and adult glaucoma and other ocular phenotypes.

Mol Vis 2016 17;22:1229-1238. Epub 2016 Oct 17.

Department of Pediatrics and Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI; Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI; Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, WI.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070572PMC
January 2018

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

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

Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum.

BMC Musculoskelet Disord 2016 Mar 1;17:109. Epub 2016 Mar 1.

Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, SE-413 45, Gothenburg, Sweden.

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http://dx.doi.org/10.1186/s12891-016-0947-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774121PMC
March 2016

Using immunofluorescence (antigen) mapping in the diagnosis and classification of epidermolysis bullosa: a first report from Iran.

Int J Dermatol 2015 Oct 28;54(10):e416-23. Epub 2015 Jul 28.

Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

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http://dx.doi.org/10.1111/ijd.12804DOI Listing
October 2015

Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3.

Am J Med Genet A 2015 Nov 20;167A(11):2508-15. Epub 2015 Jul 20.

Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37248DOI Listing
November 2015

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.

Eur J Hum Genet 2016 Apr 1;24(4):535-41. Epub 2015 Jul 1.

Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Milwaukee, WI, USA.

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http://dx.doi.org/10.1038/ejhg.2015.155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929874PMC
April 2016

Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.

PLoS Genet 2015 26;11(2):e1005002. Epub 2015 Feb 26.

Department of Pediatrics and Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, Wisconsin, United States of America; Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4342166PMC
July 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

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

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

Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation.

Am J Med Genet A 2014 May 25;164A(5):1322-7. Epub 2014 Mar 25.

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

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http://doi.wiley.com/10.1002/ajmg.a.36008
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http://dx.doi.org/10.1002/ajmg.a.36008DOI Listing
May 2014

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.

Eur J Hum Genet 2014 Jul 21;22(7):888-95. Epub 2013 Aug 21.

1] Department of Pediatrics, Institute for Metabolic and Genetic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands [2] Hayward Genetics Center, Tulane University Medical Center, New Orleans, LA, USA.

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http://dx.doi.org/10.1038/ejhg.2013.154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4060105PMC
July 2014

Severe Cenani-Lenz syndrome caused by loss of LRP4 function.

Am J Med Genet A 2013 Jun 1;161A(6):1475-9. Epub 2013 May 1.

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

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http://dx.doi.org/10.1002/ajmg.a.35920DOI Listing
June 2013

Aphonia, microstomia, deafness, retinal dystrophy, duplicated halluces and intellectual disability.

Am J Med Genet A 2012 Nov 18;158A(11):2756-62. Epub 2012 Sep 18.

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

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http://dx.doi.org/10.1002/ajmg.a.35627DOI Listing
November 2012

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome: a case report.

J Child Neurol 2013 May 1;28(5):651-7. Epub 2012 Aug 1.

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

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http://dx.doi.org/10.1177/0883073812448530DOI Listing
May 2013

Mutations in GRIP1 cause Fraser syndrome.

J Med Genet 2012 May 17;49(5):303-6. Epub 2012 Apr 17.

Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2011-100590DOI Listing
May 2012

An/micr-ophthalmia, cleft lip/palate, and short limbs: a new syndrome simulating a short rib syndrome.

Fetal Pediatr Pathol 2012 Oct 20;31(5):295-9. Epub 2012 Mar 20.

Kariminejad Najmabadi Pathology and Genetic Center, Tehran, Iran.

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http://dx.doi.org/10.3109/15513815.2012.659386DOI Listing
October 2012

VSX2 mutations in autosomal recessive microphthalmia.

Mol Vis 2011 28;17:2527-32. Epub 2011 Sep 28.

Department of Pediatrics and Children’s Research Institute at the Medical College of Wisconsin, Children’s Hospital of Wisconsin, Milwaukee, WI, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3185030PMC
January 2012

Complete COL1A1 allele deletions in osteogenesis imperfecta.

Genet Med 2010 Nov;12(11):736-41

Department of Clinical Genetics, VU University Medical Centre, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1097/GIM.0b013e3181f01617DOI Listing
November 2010

11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features.

Am J Med Genet A 2010 Oct;152A(10):2651-5

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

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http://dx.doi.org/10.1002/ajmg.a.33623DOI Listing
October 2010

Distal renal tubular acidosis and its relationship with hearing loss in children: preliminary report.

Iran J Kidney Dis 2010 Jul;4(3):202-6

Pediatric Infectious Research Center and Department of Nephrology, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

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July 2010

Absent pulmonary valve, intact interventricular septum, rudimentary aortic non-coronary cusp and ascending aortic aneurysm in a single patient.

Interact Cardiovasc Thorac Surg 2010 Apr 29;10(4):636-8. Epub 2010 Jan 29.

Shiraz University of Medical Sciences, Shiraz, Iran.

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http://dx.doi.org/10.1510/icvts.2009.225508DOI Listing
April 2010

Amelia, cleft lip, and holoprosencephaly: a distinct entity.

Am J Med Genet A 2009 Dec;149A(12):2828-31

Kariminejad-Najmabadi Pathology and Genetics Center, 1143 Med Bldg Sanat Sq Shahrak Gharb, P.O. BOX 14667/154, Tehran, Iran.

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http://dx.doi.org/10.1002/ajmg.a.32933DOI Listing
December 2009

Restrictive dermopathy. Molecular diagnosis of restrictive dermopathy in a stillborn fetus from a consanguineous Iranian family.

Saudi Med J 2009 Jan;30(1):150-3

Department of Kariminejad Najmabadi Pathology & Genetics Center, #1143 Medical Bldg., PO Box 1466713713, Sanat Sq. Shahrak Gharb, Tehran, Iran.

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January 2009

Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy.

Am J Med Genet A 2008 Dec;146A(23):3058-61

Department of Pediatrics, Emma Children's Hospital, AMC Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.32566DOI Listing
December 2008

Clinical variability in acro-cardio-facial-syndrome.

Am J Med Genet A 2008 Aug;146A(15):1977-9

Kariminejad & Najmabadi Genetic and Pathology Center, Tehran, Iran.

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http://dx.doi.org/10.1002/ajmg.a.32052DOI Listing
August 2008

Skull defects, alopecia and distinctive facies: a new syndrome?

Clin Dysmorphol 2008 Jul;17(3):203-5

Kariminejad and Najmabadi Genetic and Pathology Center, Tehran, Iran.

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http://dx.doi.org/10.1097/MCD.0b013e3282fba59dDOI Listing
July 2008