Vardiella Meiner

Vardiella Meiner

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Vardiella Meiner

Vardiella Meiner

Publications by authors named "Vardiella Meiner"

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Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay.

Eur J Hum Genet 2019 Aug 11;27(8):1315-1319. Epub 2019 Apr 11.

Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, 9112001, Jerusalem, Israel.

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http://dx.doi.org/10.1038/s41431-019-0380-yDOI Listing
August 2019

VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.

Cold Spring Harb Mol Case Stud 2019 Aug 6. Epub 2019 Aug 6.

NYS Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, NY,10314, USA.

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http://dx.doi.org/10.1101/mcs.a003715DOI Listing
August 2019

is associated with recessive primary familial brain calcification.

Ann Clin Transl Neurol 2019 Jan 15;6(1):106-113. Epub 2018 Nov 15.

Department of Genetics and Metabolic Diseases Center for Clinical Genetics Hadassah Medical Center Jerusalem Israel.

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http://doi.wiley.com/10.1002/acn3.684
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http://dx.doi.org/10.1002/acn3.684DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331209PMC
January 2019

Single nucleotide polymorphism (SNP) based chromosomal microarray analysis provides clues and insights into disease mechanisms.

Ultrasound Obstet Gynecol 2019 Jan 28. Epub 2019 Jan 28.

Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1002/uog.20230DOI Listing
January 2019

Role of a conserved glutamine in the function of voltage-gated Ca channels revealed by a mutation in human .

J Biol Chem 2018 09 27;293(37):14444-14454. Epub 2018 Jul 27.

From the Departments of Molecular Physiology and Biophysics, Otolaryngology Head-Neck Surgery, and Neurology and Iowa Neuroscience Institute, University of Iowa, Iowa City, Iowa 52242 and

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http://dx.doi.org/10.1074/jbc.RA118.003681DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6139563PMC
September 2018

Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD.

Genet Med 2018 08 16;20(8):867-871. Epub 2017 Nov 16.

Faculty of Medicine, Hebrew University, Jerusalem, Israel.

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http://www.nature.com/articles/gim2017193
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http://dx.doi.org/10.1038/gim.2017.193DOI Listing
August 2018

Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies.

Prenat Diagn 2018 01 19;38(2):135-139. Epub 2018 Jan 19.

Departments of Genetics and Metabolic Diseases, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1002/pd.5201DOI Listing
January 2018

Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly.

Am J Med Genet A 2017 Sep 7;173(9):2539-2544. Epub 2017 Jul 7.

Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ajmg.a.38347DOI Listing
September 2017

Defective ATP breakdown activity related to an ENTPD1 gene mutation demonstrated using P NMR spectroscopy.

Chem Commun (Camb) 2017 Aug;53(65):9121-9124

Department of Radiology, Hadassah-Hebrew University Medical Center, Israel.

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http://dx.doi.org/10.1039/c7cc00426eDOI Listing
August 2017

Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia.

Endocrine 2017 Mar 7;55(3):741-747. Epub 2017 Feb 7.

Department of Genetics and Metabolic diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s12020-017-1241-5DOI Listing
March 2017

Molecular genetics of familial hypercholesterolemia in Israel-revisited.

Atherosclerosis 2017 02 18;257:55-63. Epub 2016 Dec 18.

Center for Research Prevention and Treatment of Atherosclerosis, Department of Medicine, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.atherosclerosis.2016.12.021DOI Listing
February 2017

Prenatal observation of nystagmus, cataracts, and brain abnormalities in a case of Zellweger spectrum disorder syndrome.

Prenat Diagn 2016 Sep 25;36(9):894-5. Epub 2016 Jul 25.

Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Hospital, Jerusalem, Israel.

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http://dx.doi.org/10.1002/pd.4872DOI Listing
September 2016

Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.

Am J Med Genet A 2016 06 17;170(6):1603-7. Epub 2016 Mar 17.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ajmg.a.37624DOI Listing
June 2016

Ashkenazi carrier screening for reproductive planning: is this what we planned for?

Genet Med 2016 05 10;18(5):529. Epub 2015 Dec 10.

Hadassah Medical School, Hebrew University, Jerusalem, Israel.

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http://dx.doi.org/10.1038/gim.2015.169DOI Listing
May 2016

Mutated MCM9 is associated with predisposition to hereditary mixed polyposis and colorectal cancer in addition to primary ovarian failure.

Cancer Genet 2015 Dec 22;208(12):621-4. Epub 2015 Oct 22.

Department of Genetics and Metabolic Diseases, Hebrew University-Hadassah Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.cancergen.2015.10.001DOI Listing
December 2015

Calcium-sensing receptor sequencing in 21 patients with idiopathic or familial parathyroid disorder: pitfalls and characterization of a novel I32 V loss-of-function mutation.

Endocrine 2015 Mar 5;48(2):444-53. Epub 2014 Aug 5.

Endocrinology and Metabolism Service, Department of Internal Medicine, Hadassah-Hebrew University Medical Center, POB 24035, 91240, Jerusalem, Israel,

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http://dx.doi.org/10.1007/s12020-014-0370-3DOI Listing
March 2015

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.

Neurology 2015 Feb 21;84(7):659-67. Epub 2015 Jan 21.

From the Department of Neurology and Agnes Ginges Center for Human Neurogenetics (A.L., P.P.), Department of Genetics and Metabolic Diseases (B.-E.Z., M.A., L.C., R.S., I.L., V.M.), Neuro-Ophthalmology Center, Department of Ophthalmology (S.D.), and Department of Radiology (J.M.G.), Hebrew University-Hadassah Medical Center, Jerusalem, Israel; Institut für Zytobiologie und Zytopathologie (C.S., R.L.), Philipps-Universität Marburg, Germany; Laboratoire de Neurogénétique (G.S., M.G.), Ecole Pratique des Hautes Etudes-heSam Universite, Institut du Cerveau et de la Moelle épinière, Paris; Inserm U1127 (G.S., M.G., E.M., A.B.), CNRS UMR7225, Sorbonne Universites, UPMC Univ Paris 06 UMR_1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris; APHP (G.S., A.B.), Fédération de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris; Institut du Cerveau et de la Moelle épinière (G.S., E.M., A.B.), Genotyping and Sequencing Facility, Paris, France; Department of Neurology (A.M.), Shaare Zedek Medical Center, Jerusalem, Israel; Max-Planck-Institut für terrestrische Mikrobiologie (R.L.), Marburg; and LOEWE Zentrum für Synthetische Mikrobiologie SynMikro (R.L.), Marburg, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000001270DOI Listing
February 2015

Teaching NeuroImages: hypertrophic olivary degeneration in a young man with POLG gene mutation.

Neurology 2015 Feb;84(8):e59

From The Departments of Neurology (D.A., A.L.) and Genetic and Metabolic Diseases (V.M.), Hebrew University-Hadassah Medical Center, Jerusalem; and The Department of Neurology (A.K.), Tel Aviv University-Sourasky Medical Center, Tel Aviv, Israel.

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http://dx.doi.org/10.1212/WNL.0000000000001287DOI Listing
February 2015

Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene.

Neurogenetics 2015 Jan 22;16(1):23-6. Epub 2014 Oct 22.

Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s10048-014-0428-7DOI Listing
January 2015

Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.

J Neurol 2014 Nov 23;261(11):2165-9. Epub 2014 Aug 23.

Department of Pediatric Neurology, Schneider Children's Medical Center of Israel, 14 Kaplan St., 49202, Petach Tikva, Israel,

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http://dx.doi.org/10.1007/s00415-014-7457-xDOI Listing
November 2014

Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.

Eur J Hum Genet 2014 Aug 15;22(8):1019-25. Epub 2014 Jan 15.

Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1038/ejhg.2013.284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350599PMC
August 2014

Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.

JAMA Neurol 2014 Jul;71(7):901-4

Hebrew University-Hadassah School of Medicine, Jerusalem, Israel12Department of Child and Adolescent Psychiatry, Jerusalem Mental Health Center, Eitanim Psychiatric Hospital, Jerusalem, Israel.

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http://dx.doi.org/10.1001/jamaneurol.2014.116DOI Listing
July 2014

A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity.

J Neurol Sci 2014 Apr 23;339(1-2):210-3. Epub 2014 Jan 23.

Department of Neurology, The Agnes Ginges Center for Human Neurogenetics, Hebrew University-Hadassah Medical Center, Jerusalem, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2014.01.022DOI Listing
April 2014

Genetic screening for Krabbe disease: learning from the past and looking to the future.

Am J Med Genet A 2011 Mar 22;155A(3):574-6. Epub 2011 Feb 22.

Department of Human Genetics and Metabolic Diseases, Hadassah, Hebrew University Hospital, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ajmg.a.33815DOI Listing
March 2011

On the mechanism of accumulation of cholestanol in the brain of mice with a disruption of sterol 27-hydroxylase.

J Lipid Res 2010 Sep 28;51(9):2722-30. Epub 2010 May 28.

Department of Laboratory Medicine, Division of Clincial Chemistry, Karolinska Institutet, Karolinska University Hospital, Huddinge, Sweden.

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http://www.jlr.org/lookup/doi/10.1194/jlr.M008326
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http://dx.doi.org/10.1194/jlr.M008326DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2918454PMC
September 2010

Severe infantile carnitine palmitoyltransferase II deficiency in 19-week fetal sibs.

Pediatr Dev Pathol 2009 Nov-Dec;12(6):481-6

Perinatal Pathology Unit, Department of Pathology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://journals.sagepub.com/doi/10.2350/08-10-0548.1
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http://dx.doi.org/10.2350/08-10-0548.1DOI Listing
April 2010

Increased risk for atherosclerosis of various macrophage scavenger receptor 1 alleles.

Genet Test Mol Biomarkers 2009 Oct;13(5):583-7

Department of Cardiology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1089/gtmb.2009.0048DOI Listing
October 2009

Leptin, insulin, and obesity-related phenotypes: genetic influences on levels and longitudinal changes.

Obesity (Silver Spring) 2009 Jul 12;17(7):1458-60. Epub 2009 Feb 12.

Unit of Epidemiology, Hebrew University-Hadassah School of Public Health, Jerusalem, Israel.

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http://doi.wiley.com/10.1038/oby.2008.672
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http://dx.doi.org/10.1038/oby.2008.672DOI Listing
July 2009

SREBP-2 and SCAP isoforms and risk of early onset myocardial infarction.

Atherosclerosis 2008 Feb 26;196(2):896-904. Epub 2007 Mar 26.

Unit of Epidemiology, Hebrew University-Hadassah School of Public Health, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.atherosclerosis.2007.02.006DOI Listing
February 2008

Rifampicin-induced CYP3A4 activation in CTX patients cannot replace chenodeoxycholic acid treatment.

Biochim Biophys Acta 2007 Jul 1;1771(7):839-44. Epub 2007 May 1.

Department of Internal Medicine B and the Center for Research Prevention and Treatment of Atherosclerosis, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.bbalip.2007.04.012DOI Listing
July 2007

A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.

Mol Genet Metab 2006 Dec 17;89(4):332-8. Epub 2006 Aug 17.

Department of Clinical Biochemistry, Hadassah - Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2006.06.009DOI Listing
December 2006

Could steroids mask the diagnosis of cerebrotendinous xanthomatosis?

J Neurol Sci 2006 Apr 30;243(1-2):83-6. Epub 2006 Jan 30.

Department of Neurology, Meir General Hospital Kfar-Saba, and the Sackler Faculty of Medicine, Tel-Aviv University, Israel.

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http://dx.doi.org/10.1016/j.jns.2005.10.019DOI Listing
April 2006

The association of common SNPs and haplotypes in the CETP and MDR1 genes with lipids response to fluvastatin in familial hypercholesterolemia.

Atherosclerosis 2006 Mar 5;185(1):97-107. Epub 2005 Jul 5.

The Laboratory for Molecular Genetics and Pharmacogenetics, Migal-Galilee Technology Center, Kiryat-Shmona, Israel.

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http://dx.doi.org/10.1016/j.atherosclerosis.2005.05.025DOI Listing
March 2006

Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy.

Hum Mol Genet 2005 Dec 21;14(24):3911-20. Epub 2005 Nov 21.

Department of Human Genetics, Hadassah Hebrew University Hospital and Medical School, Jerusalem, Israel.

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http://academic.oup.com/hmg/article/14/24/3911/2355860/Delet
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http://dx.doi.org/10.1093/hmg/ddi415DOI Listing
December 2005

Apolipoprotein E genotyping: accurate, simple, high throughput method using ABI Prism SNaPshot Multiplex System.

J Alzheimers Dis 2004 Oct;6(5):497-501

Center for Research, Prevention, and Treatment of Atherosclerosis, Department of Medicine B, Hebrew University-Hadassah Medical School and Hadassah University Hospital, Jerusalem.

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October 2004

Identification of a novel mutation in the gene for bone morphogenetic protein receptor II in an Israeli patient with familial primary pulmonary hypertension.

Isr Med Assoc J 2004 Mar;6(3):156-9

Department of Human Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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March 2004