Maria Bitner-Glindzicz

Maria Bitner-Glindzicz

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Maria Bitner-Glindzicz

Maria Bitner-Glindzicz

Publications by authors named "Maria Bitner-Glindzicz"

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Functional assessment of variants associated with Wolfram syndrome.

Hum Mol Genet 2019 Nov;28(22):3815-3824

Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, UK.

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http://dx.doi.org/10.1093/hmg/ddz212DOI Listing
November 2019

Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans.

Hum Mol Genet 2019 10;28(20):3466-3474

Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1093/hmg/ddz203DOI Listing
October 2019

The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.

Ophthalmology 2019 06 14;126(6):888-907. Epub 2019 Jan 14.

UCL Great Ormond Street Institute of Child Health, and NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London, London, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01616420183185
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http://dx.doi.org/10.1016/j.ophtha.2018.12.050DOI Listing
June 2019

Opening the "black box" of informed consent appointments for genome sequencing: a multisite observational study.

Genet Med 2019 05 1;21(5):1083-1091. Epub 2018 Oct 1.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://www.nature.com/articles/s41436-018-0310-3
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http://dx.doi.org/10.1038/s41436-018-0310-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752270PMC
May 2019

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

The 100 000 Genomes Project: What it means for paediatrics.

Arch Dis Child Educ Pract Ed 2017 Apr 9;102(2):105-107. Epub 2016 Dec 9.

North Thames NHS Genomic Medicine Centre, Great Ormond Street NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1136/archdischild-2016-311029DOI Listing
April 2017

Congenital hearing loss.

Nat Rev Dis Primers 2017 01 12;3:16094. Epub 2017 Jan 12.

Department of Otorhinolaryngology, Head and Neck Surgery, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.

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http://dx.doi.org/10.1038/nrdp.2016.94DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5675031PMC
January 2017

Clinical utility gene card for: Wolfram syndrome.

Eur J Hum Genet 2016 11 25;24(11). Epub 2016 May 25.

Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1038/ejhg.2016.49DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110049PMC
November 2016

Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations.

Ophthalmology 2016 07 10;123(7):1624-6. Epub 2016 Feb 10.

Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, UK; Newcastle Eye Centre, Royal Victoria Infirmary, Newcastle upon Tyne, UK; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1016/j.ophtha.2016.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6558247PMC
July 2016

STAG3 truncating variant as the cause of primary ovarian insufficiency.

Eur J Hum Genet 2016 Jan 10;24(1):135-8. Epub 2015 Jun 10.

Reproductive Medicine Unit, Institute for Women's Health, University College London Hospitals, London, UK.

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http://dx.doi.org/10.1038/ejhg.2015.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795223PMC
January 2016

Republished: Genetic investigations in childhood deafness.

Postgrad Med J 2015 Jul;91(1077):395-402

UCL Institute of Child Health, Genetics and Genomic Medicine Programme, London, UK North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1136/postgradmedj-2014-306099repDOI Listing
July 2015

Genetic investigations in childhood deafness.

Arch Dis Child 2015 Mar 16;100(3):271-8. Epub 2014 Oct 16.

UCL Institute of Child Health, Genetics and Genomic Medicine Programme, London, UK North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1136/archdischild-2014-306099DOI Listing
March 2015

Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease.

Hum Mutat 2015 Mar;36(3):296-300

Developmental Biology and Cancer, Birth Defects Research Centre, UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1002/humu.22741DOI Listing
March 2015

Clinical heterogeneity in a family with mutations in USH2A.

JAMA Ophthalmol 2015 Mar;133(3):352-5

Institute of Ophthalmology, University College London, London, England3Moorfields Eye Hospital, London, England.

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http://dx.doi.org/10.1001/jamaophthalmol.2014.5163DOI Listing
March 2015

Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss.

Hum Mol Genet 2015 Feb 9;24(4):1036-44. Epub 2014 Oct 9.

Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK, Centre for Auditory Research, UCL Ear Institute, London WC1X 8EE, UK

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http://dx.doi.org/10.1093/hmg/ddu518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4986548PMC
February 2015

Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.

Eur J Endocrinol 2015 Feb 13;172(2):217-26. Epub 2014 Nov 13.

Department of EndocrinologyBarts and the London School of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UKOxford Centre for DiabetesEndocrinology and Metabolism, University of Oxford, Oxford, UKNorth East Thames Regional Genetics Service LaboratoryDepartment of Audiovestibular MedicineGreat Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UKClinical and Molecular Genetics UnitUCL Institute of Child Health, London WC1N 1EH, UKClinical Genetics UnitGreat Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.

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https://eje.bioscientifica.com/view/journals/eje/172/2/217.x
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http://dx.doi.org/10.1530/EJE-14-0679DOI Listing
February 2015

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

The effect of the common c.2299delG mutation in USH2A on RNA splicing.

Exp Eye Res 2014 May 4;122:9-12. Epub 2014 Mar 4.

UCL Institute of Ophthalmology, London EC1V 9EL, United Kingdom; Moorfields Eye Hospital, London EC1V 2PD, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.exer.2014.02.018DOI Listing
May 2014

Gentamicin, genetic variation and deafness in preterm children.

BMC Pediatr 2014 Mar 5;14:66. Epub 2014 Mar 5.

Genetics and Genomic Medicine, University College London Institute of Child Health and Great Ormond Street Hospital for Children, 30 Guilford Street, London WC1N 1EH, UK.

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http://dx.doi.org/10.1186/1471-2431-14-66DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3984755PMC
March 2014

Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.

Ophthalmology 2014 Feb 5;121(2):580-7. Epub 2013 Nov 5.

UCL Institute of Ophthalmology, London, United Kingdom; Moorfields Eye Hospital, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2013.09.017DOI Listing
February 2014

EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus.

Eur J Hum Genet 2013 Nov 22;21(11):1325-9. Epub 2013 May 22.

Department of Human Genetics, Radboud University MC, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1038/ejhg.2013.83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3798855PMC
November 2013

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.

BMC Med Genet 2013 Aug 21;14:85. Epub 2013 Aug 21.

North East Thames Regional Genetics Service Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, 37 Queen Square,York House, London WC1N 3BH, UK.

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http://dx.doi.org/10.1186/1471-2350-14-85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3765178PMC
August 2013

The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss.

Int J Audiol 2013 Feb 7;52(2):124-33. Epub 2012 Nov 7.

National Institute for Health Research (NIHR) Horizon Scanning Centre, School of Health and Population Sciences, University of Birmingham, Birmingham, UK.

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http://dx.doi.org/10.3109/14992027.2012.733424DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3545543PMC
February 2013

CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited.

Ophthalmology 2011 Sep 20;118(9):1865-73. Epub 2011 May 20.

Ulverscroft Vision Research Group, University College London Institute of Child Health, London, and Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom.

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http://dx.doi.org/10.1016/j.ophtha.2011.01.044DOI Listing
September 2011

Preferences for communication in clinic from deaf people: a cross-sectional study.

J Eval Clin Pract 2010 Aug 14;16(4):811-7. Epub 2010 Jun 14.

Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1111/j.1365-2753.2009.01207.xDOI Listing
August 2010

Investigation of the child with permanent hearing impairment.

Arch Dis Child Educ Pract Ed 2010 Feb;95(1):14-23

Nuffield Hearing and Speech Centre, Royal National Throat, Nose and Ear Hospital, 330 Gray's Inn Road, London WCIX 8DA, UK.

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http://dx.doi.org/10.1136/adc.2008.150987DOI Listing
February 2010

Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes.

Invest Ophthalmol Vis Sci 2009 Apr 24;50(4):1522-30. Epub 2008 Oct 24.

Developmental Biology Unit, University College London Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom.

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http://dx.doi.org/10.1167/iovs.08-2483DOI Listing
April 2009

Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.

Hum Mutat 2009 Feb;30(2):248-54

Department of Clinical Neurosciences, Institute of Neurology, University College London, London, United Kingdom.

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http://dx.doi.org/10.1002/humu.20852DOI Listing
February 2009

Update on Usher syndrome.

Curr Opin Neurol 2009 Feb;22(1):19-27

UCL Institute of Ophthalmology & Moorfields Eye Hospital, London, UK.

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http://dx.doi.org/10.1097/wco.0b013e3283218807DOI Listing
February 2009

Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorder.

J Inherit Metab Dis 2008 Apr 4;31(2):151-63. Epub 2008 Apr 4.

University College London Institute of Child Health with Great Ormond Street Hospital for Children NHS Trust, London, UK.

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http://dx.doi.org/10.1007/s10545-008-0813-1DOI Listing
April 2008

Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene.

Mov Disord 2007 Jul;22(9):1328-31

Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, London, United Kingdom.

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http://doi.wiley.com/10.1002/mds.21351
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http://dx.doi.org/10.1002/mds.21351DOI Listing
July 2007

The changing face of Usher syndrome: clinical implications.

Int J Audiol 2007 Feb;46(2):82-93

Human Communication and Deafness, School of Psychological Sciences, University of Manchester, Manchester, UK.

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http://www.tandfonline.com/doi/full/10.1080/1499202060097527
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http://dx.doi.org/10.1080/14992020600975279DOI Listing
February 2007

Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.

Neurogenetics 2007 Jan 13;8(1):39-44. Epub 2006 Sep 13.

Clinical and Molecular Genetics Unit, Institute of Child Health, London, UK.

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http://dx.doi.org/10.1007/s10048-006-0062-0DOI Listing
January 2007

Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.

Mol Genet Metab 2006 Nov 23;89(3):214-21. Epub 2006 Jun 23.

Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, UK.

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http://dx.doi.org/10.1016/j.ymgme.2006.05.003DOI Listing
November 2006

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

Hum Reprod 2006 Oct 4;21(10):2467-73. Epub 2006 Apr 4.

Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1093/humrep/del076DOI Listing
October 2006

Late postnatal onset of hearing loss due to GJB2 mutations.

Int J Pediatr Otorhinolaryngol 2006 Jun 15;70(6):1119-24. Epub 2006 Feb 15.

Department of Audiology, Great Ormond Street Hospital for Children, Great Ormond Street, London, WC1N 3JH, UK.

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http://dx.doi.org/10.1016/j.ijporl.2005.10.026DOI Listing
June 2006

A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes.

Am J Med Genet B Neuropsychiatr Genet 2006 Mar;141B(2):184-91

Developmental Biology Unit, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, University College London, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.b.30237DOI Listing
March 2006

Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1).

Cardiovasc Res 2005 Aug;67(3):476-86

BHF Laboratories and Department of Medicine, University College London, 5 University Street, London, WC1E 6JJ, UK.

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http://dx.doi.org/10.1016/j.cardiores.2005.04.036DOI Listing
August 2005

De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure.

J Am Soc Nephrol 2005 Jul 11;16(7):2141-9. Epub 2005 May 11.

Nephro-Urology Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1E 1EH, UK.

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http://dx.doi.org/10.1681/ASN.2004090776DOI Listing
July 2005

Infantile hyperinsulinism associated with enteropathy, deafness and renal tubulopathy: clinical manifestations of a syndrome caused by a contiguous gene deletion located on chromosome 11p.

J Pediatr Endocrinol Metab 2004 Dec;17(12):1613-21

London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust and Institute of Child Health, London, UK.

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http://dx.doi.org/10.1515/jpem.2004.17.12.1613DOI Listing
December 2004

Kantaputra mesomelic dysplasia: a second reported family.

Am J Med Genet A 2004 Jul;128A(1):6-11

Clinical and Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, London WC1N 3EH, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.20640DOI Listing
July 2004

Hereditary deafness and phenotyping in humans.

Br Med Bull 2002 ;63:73-94

Unit of Clinical and Molecular Genetics, Institute of Child Health, London, UK.

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http://dx.doi.org/10.1093/bmb/63.1.73DOI Listing
November 2002