Maria Bitner-Glindzicz
British physician and professor of human and molecular genetics
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(Suggest an Edit or Addition)According to Wikipedia, Maria Bitner-Glindzicz was a British medical doctor, honorary consultant in clinical genetics at Great Ormond Street Hospital, and a professor of human and molecular genetics at the UCL Institute of Child Health. The hospital described her work as relating to the "genetic causes of deafness in children and therapies that she hoped would one day restore vision." She researched Norrie disease and Usher syndrome, working with charities including Sparks and the Norrie Disease Foundation, and was one of the first colleagues involved in the 100,000 Genomes Project at Genomics England.
Maria Bitner-Glindzicz's Published Works
Published Works
- A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family (1997) (615)
- Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. (2001) (538)
- GJB2 mutations and degree of hearing loss: a multicenter study. (2005) (479)
- Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4 (1995) (416)
- Prevalence and architecture of de novo mutations in developmental disorders (2017) (405)
- The Jervell and Lange-Nielsen Syndrome: Natural History, Molecular Basis, and Clinical Outcome (2006) (340)
- Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. (2006) (334)
- Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. (2017) (327)
- IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. (1997) (316)
- A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene (2000) (315)
- Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. (2005) (306)
- Whole-genome sequencing of patients with rare diseases in a national health system (2020) (239)
- Hereditary deafness and phenotyping in humans. (2002) (226)
- Mutations in the lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome (2011) (222)
- A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. (2009) (208)
- Congenital hearing loss (2017) (202)
- Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. (2006) (159)
- Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. (1996) (159)
- Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study (2011) (152)
- Germline selection shapes human mitochondrial DNA diversity (2019) (148)
- Prevalence of mitochondrial 1555A-->G mutation in European children. (2009) (145)
- Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism (2014) (142)
- Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. (2006) (127)
- De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure. (2005) (115)
- Update on Usher syndrome (2009) (115)
- Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome (2001) (111)
- Assessment of the genetic causes of recessive childhood non‐syndromic deafness in the UK – implications for genetic testing (2005) (110)
- Development of a genotyping microarray for Usher syndrome (2005) (108)
- Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia—A new metabolic disorder (2008) (107)
- Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment (2011) (98)
- Whole genome sequencing of a sporadic primary immunodeficiency cohort (2018) (92)
- Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children (2018) (89)
- A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants (2015) (86)
- Jervell and Lange-Nielsen syndrome: a Norwegian perspective. (1999) (86)
- Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. (2010) (85)
- Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. (2014) (85)
- Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss (2001) (85)
- Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension (2017) (84)
- Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1). (2005) (78)
- A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome. (2001) (75)
- DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System (2016) (73)
- The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report (2021) (72)
- Ototoxicity caused by aminoglycosides (2007) (66)
- A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR‐based approach and next generation sequencing (2013) (66)
- The changing face of Usher syndrome: Clinical implications (2007) (65)
- The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders. (2019) (63)
- Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. (1995) (63)
- The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome. (2006) (61)
- Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion (2009) (58)
- Genetic investigations in childhood deafness (2014) (56)
- Preferences for communication in clinic from deaf people: a cross-sectional study. (2010) (55)
- Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM (2001) (55)
- FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. (2010) (52)
- SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20 (2018) (52)
- Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II. (2006) (50)
- Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study (2016) (49)
- Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing (2013) (49)
- Hearing in 44–45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study (2012) (48)
- A novel homeobox mutation in the PITX2 gene in a family with Axenfeld‐Rieger syndrome associated with brain, ocular, and dental phenotypes (2006) (47)
- Recurrent mutations in the deafness geneGJB2 (connexin 26) in British Asian families (2001) (46)
- Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination (2006) (46)
- Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment (2001) (46)
- Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen (2000) (46)
- X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions. (1994) (44)
- Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population (2007) (44)
- Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes (2018) (43)
- STAG3 truncating variant as the cause of primary ovarian insufficiency (2015) (43)
- Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. (2010) (42)
- Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes (2000) (41)
- Mutation of SALL2 causes recessive ocular coloboma in humans and mice (2014) (41)
- Mapping of DFN2 to Xq22. (1996) (41)
- Mutations within Sox 2 / SOX 2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans (2006) (40)
- Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen (2000) (40)
- Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome (2013) (40)
- Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6‐D13S1830) (2005) (38)
- A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome (2000) (37)
- FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. (2015) (37)
- Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts (2013) (35)
- Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population (2008) (34)
- Late postnatal onset of hearing loss due to GJB2 mutations. (2006) (33)
- Aetiological investigations of hearing loss in childhood: a review. (2000) (31)
- EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus (2013) (30)
- Mutation analyses of Uroplakin II in children with renal tract malformations. (2006) (29)
- Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss (2014) (29)
- Non‐mydriatic Retinal Photography as a Screening Service for General Practitioners (1990) (28)
- De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder (2018) (27)
- Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation. (2014) (27)
- Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations. (2007) (27)
- De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures (2018) (26)
- The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss (2012) (26)
- The effect of the common c.2299delG mutation in USH2A on RNA splicing. (2014) (26)
- Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study (2012) (25)
- Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes. (2009) (24)
- Causes of deafness in British Bangladeshi children: a prevalence twice that of the UK population cannot be accounted for by consanguinity alone (2009) (24)
- CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited. (2011) (23)
- The 100 000 Genomes Project: What it means for paediatrics (2016) (23)
- Usher syndrome: a review of the clinical phenotype, genes and therapeutic strategies (2015) (22)
- The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management (2018) (22)
- Infantile hyperinsulinism associated with enteropathy, deafness and renal tubulopathy: clinical manifestations of a syndrome caused by a contiguous gene deletion located on chromosome 11p. (2004) (22)
- Blepharospasm and limb dystonia caused by Mohr‐Tranebjaerg syndrome with a novel splice‐site mutation in the deafness/dystonia peptide gene (2007) (22)
- Opening the “black box” of informed consent appointments for genome sequencing: a multisite observational study (2018) (20)
- Haplotype analysis of the USH1D locus and genotype–phenotype correlations (2001) (19)
- Analysis of KIT, SCF, and initial screening of SLUG in patients with piebaldism. (2005) (19)
- Investigation of the child with permanent hearing impairment (2010) (18)
- Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations. (2016) (18)
- Clinical and preclinical therapeutic outcome metrics for USH2A-related disease (2020) (17)
- MUTATIONS IN THE USH1C GENE ASSOCIATED WITH SECTOR RETINITIS PIGMENTOSA AND HEARING LOSS (2011) (17)
- Clinical utility gene card for: Wolfram syndrome (2016) (17)
- An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes (2017) (17)
- Gentamicin, genetic variation and deafness in preterm children (2014) (17)
- The contribution of USH1C mutations to syndromic and non‐syndromic deafness in the UK (2003) (17)
- Clinical heterogeneity in a family with mutations in USH2A. (2015) (14)
- Functional characterization of GATA 3 mutations causing the hypoparathyroidism-deafness-renal ( HDR ) dysplasia syndrome : insight into mechanisms of DNA binding by the GATA 3 transcription factor (2007) (14)
- Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome. (2015) (13)
- The Jervell and Lange-Nielsen syndrome. (2000) (12)
- Kantaputra mesomelic dysplasia: A second reported family (2004) (12)
- Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations (2019) (12)
- Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families. (1994) (11)
- Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness (2004) (10)
- Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans. (2019) (10)
- Functional Assessment of Variants Associated with Wolfram Syndrome. (2019) (9)
- Aminoglycoside-induced deafness during treatment of acute leukaemia (2010) (8)
- Molecular basis of the long-QT syndrome. (1997) (8)
- Mapping and cloning hereditary deafness genes. (1995) (8)
- Republished: Genetic investigations in childhood deafness (2014) (5)
- Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases (2019) (5)
- A ploidy-agnostic method for estimating telomere length from whole genome sequencing data. (2018) (4)
- WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression. (2022) (4)
- Guidelines and recommendations for testing of Cx26 mutations and interpretation of results. (2004) (3)
- Mutation of SALL 2 causes recessive ocular coloboma in humans and mice (2014) (3)
- European Journal of Human Genetics, Barcelona, Spain (2008) (3)
- Mapping of a locus for autosomal dominant Hemifacial Microsomia (2000) (2)
- Genetic Hearing Loss Associated with Renal Disorders (2004) (2)
- Natural history and genetic aspects of the Jervell and Lange-Nielsen syndrome. (2001) (2)
- Whole-genome sequencing of a sporadic primary immunodeficiency cohort (2020) (2)
- Splice mutations in KVLQT1? (1999) (2)
- Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management (2018) (2)
- Genetics of Non-Syndromic Deafness (2007) (2)
- Hearing in 44 e 45 year olds with m.1555A > G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study (1)
- The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention (2022) (1)
- Molecular pathology of Usher 1B patient-derived retinal organoids at single cell resolution (2022) (1)
- Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort (2020) (1)
- Is gross motor delay secondary to bilateral vestibular hypofunction in Jervell and Lange-Nielsen syndrome? (2012) (1)
- A comprehensive screen of the USH2A gene in 185 patients with autosomal recessive retinal disease (2013) (1)
- Why don't deaf people come for genetic counselling? Quantitative and qualitative findings from a UK study (2008) (1)
- Hyperinsulinism (HI) associated with sensorineural hearing loss and an inflammatory enteropathy (2000) (1)
- FOXRED1 mutations are a novel cause of mitochondrial complex I deficiency (2011) (1)
- A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness, identifies the gene for Usher syndrome type 1C. (2000) (1)
- Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019) (1)
- Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (2018) (0)
- BIROn - Birkbeck Institutional Research Online identifies variants in that are associated with fetal loss (2020) (0)
- De novo UPIIIa mutations cause human urinary tract malformations which lead to severe renal failure (2005) (0)
- Opening the “black box” of informed consent appointments for genome sequencing: a multisite observational study (2018) (0)
- Analysis of Fundal Autofluorescence Images in a Cohort of Individuals With Mutations in Ush2a (2007) (0)
- Apparent high prevalence of mitochondrial DNA mutations in congenital/childhood non-syndromic sensorineural hearing impairment (2000) (0)
- Mutations in IsK underlie Jervell and Lange-Nielsen syndrome (1997) (0)
- Genetic mapping of the 3MC syndrome: identification of underlying mutations in the lectin complement pathway genes COLEC11 and MASP1 and discovery of a novel paradigm in developmental genetics (2012) (0)
- Whole-genome sequencing of patients with rare diseases in a national health system (2020) (0)
- Auditorische Neuropathie bei CAPOS-Syndrom (2018) (0)
- Book review. (2015) (0)
- Genetic heterogeneity in hemifacial microsomia: evidence for three loci at 14q32, 2q35 and 11q12-q13. (2001) (0)
- Cumulative risk factors contributing to hearing loss in preterm infants. (2022) (0)
- Usher Syndrome in French Canadians From Quebec: A Predominant Founder Mutation in the USH1C Gene Provides the First Genetic Link With the Acadian Population (2007) (0)
- BIOCHEMICAL AND MOLECULAR ANALYSIS IN MITOCHONDRIAL COMPLEX I DEFICIENT CHILDREN (2011) (0)
- Molecular analysis and genetic counselling in deaf-deaf marriages (2006) (0)
- Natural History and Retinal Structure in Patients with Usher Syndrome Type 1 Due to MYO7A Mutation (2012) (0)
- ER retention of mutant KCNQ1 K + channels expressed in CHO-K1 cells (2003) (0)
- Missense changes in USH1C in a type 1 Usher patient (2003) (0)
- ONE MINUTE INTERVIEW Goal: 100,000 genetic clues (2015) (0)
- De novo mutations in UPIIIA cause severe bilateral renal dysplasia (2004) (0)
- P449The novel long QT syndrome type 1 mutation KCNQ1-p.Thr247dup causes severe channel dysfunction but retains preserved adrenergic regulation (2018) (0)
- CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2018) (0)
- A 120-kb contiguous gene deletion on chromosome 11p causing severe infantile hyperinsulinism (HI), sensorineural hearing loss (SHL), inflammatory enteropathy (IE) and a renal tubulopathy (RT) provides new insights into the control of the development and structure of these organ systems (2000) (0)
- Mutation in FGF3 causes absent inner ear development and microtia (2007) (0)
- Genetic Variation and Deafness in Preterm Children Authors (2014) (0)
- The Expression Pattern of the Ush1C Protein in the Mouse Eye Suggests Differences in Usher Type 1 Multi Protein Complex Formation Between the Ear and the Eye (2003) (0)
- Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019) (0)
- B2.1 100,000 genomes project at gosh: experience from 111 pilot families (2017) (0)
- Aminoglycoside-induced deafness in leukemic patients: Cost-effectiveness of prevention by genetic testing (2007) (0)
- Syndrome of liver cirrhosis, dystonia and hypermanganesaemia - a new metabolic disorder? (2007) (0)
- Significance of the Usherin Cys759Phe Substitution in Non–Syndromic Retinal Dystrophy in the UK (2005) (0)
- Auditory neuropathy in CAPOS syndrome (2018) (0)
- Aminoglycoside-induced deafness: prevention by genetic testing is cost-effective (2006) (0)
- Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss (2018) (0)
- A leap in the LEOPARD phenotype (2007) (0)
- Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management (2018) (0)
- Stem Cell Repor ts Molecular pathology of Usher 1B patient-derived retinal organoids at single cell resolution (2022) (0)
- A recessive contiguous gene syndrome identifies the type 1C Usher gene (2000) (0)
- Title : Germline selection shapes the landscape of human mitochondrial DNA (2019) (0)
- Acknowledgement to referees 2002 (2003) (0)
- X-linked deafness: De novo deletion of a cosmid using dosage studies (1994) (0)
- Clinical Genetics in Pediatric Otolaryngology (1999) (0)
- Genetics in otorhinolaryngology (2000) (0)
- Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019) (0)
- Wide range of eye abnormalities in patients with hypopituitarism; implications for diagnosis and treatment (2011) (0)
- Effect of KCNE1 mutations on the trafficking of KCNQ1 in CHO-K1 cells (2005) (0)
- Aetiology of sensorineural hearing loss in British Bangladeshi children in East London (2006) (0)
- Why don't deaf people come for genetic counselling? (2008) (0)
- X-inactivation pattern in females with CMTX 1 (2011) (0)
- Visual Function in Usher Syndrome (2005) (0)
- Congenital fibrosis of the extraocular muscles associated with a de-novo interstitial deletion of chromosome 6 (2006) (0)
- Low level aneuploidy mosaicism detected by array CGH (2009) (0)
- Counselling in the Long QT syndromes: dominant or recessive conditions? (1999) (0)
- Toward a genetic basis for posterior urethral valves (2004) (0)
- B2.4 Rapid paediatric sequencing (raps) in critically ill children at great ormond street hospital (2017) (0)
- Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (2018) (0)
- Hemifacial microsomia: Progress in understanding the genetic basis of a multifactorial condition (2001) (0)
- Infantile hyperinsulinism associated with enteropathy, deafness, and renal tubulopathy: A New Syndrome Caused By A Contiguous Gene Deletion Located On Chromosome 11. (2004) (0)
- The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management (2018) (0)
- P47 Mutations in the novel chaperone FOXRED1 cause mitochondrial complex I deficiency (2011) (0)
- Multiple etiologies for hemifacial microsomia (1999) (0)
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