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Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.725259
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- Publication type:
- Article
A novel Dral polymorphism in the 3' untranslated region of human glucose-6-phosphatase gene: useful for carrier detection and prenatal diagnosis of glycogen storage disease type 1a.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 6, p. 502, doi. 10.1111/j.1399-0004.1998.tb02604.x
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- Publication type:
- Article
First prenatal exclusion of cystic fibrosis in East Asia.
- Published in:
- Pediatrics International, 2007, v. 49, n. 5, p. 686, doi. 10.1111/j.1442-200X.2007.02437.x
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- Publication type:
- Article
Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 12, p. 834, doi. 10.1038/jhg.2011.112
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- Publication type:
- Article
Mitochondrial DNA variant interactions modify breast cancer risk.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 10, p. 924, doi. 10.1007/s10038-008-0331-x
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- Publication type:
- Article
Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency.
- Published in:
- 1994
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- Publication type:
- journal article
Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2500, doi. 10.1002/ajmg.a.38333
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- Publication type:
- Article
A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1642, doi. 10.1002/ajmg.a.36508
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- Publication type:
- Article
Functional effects of cancer mitochondria on energy metabolism and tumorigenesis: utility of transmitochondrial cybrids.
- Published in:
- Annals of the New York Academy of Sciences, 2010, v. 1201, n. 1, p. 137, doi. 10.1111/j.1749-6632.2010.05621.x
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- Publication type:
- Article
A novel mutation detected by temporal temperature gradient gel electrophoresis led to the confirmative prenatal diagnosis of a Hispanic CF family.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 10, p. 807, doi. 10.1002/1097-0223(200010)20:10<807::AID-PD929>3.0.CO;2-A
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- Publication type:
- Article
PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE 1a BY DIRECT MUTATION DETECTION.
- Published in:
- Prenatal Diagnosis, 1996, v. 16, n. 2, p. 105, doi. 10.1002/(SICI)1097-0223(199602)16:2<105::AID-PD817>3.0.CO;2-K
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- Publication type:
- Article
Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis.
- Published in:
- Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/s40478-014-0137-3
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- Publication type:
- Article
Crosstalk from Non-Cancerous Mitochondria Can Inhibit Tumor Properties of Metastatic Cells by Suppressing Oncogenic Pathways
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0061747
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- Publication type:
- Article
Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes.
- Published in:
- PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0015687
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- Publication type:
- Article
Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome.
- Published in:
- 2017
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- Publication type:
- Case Study
Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations.
- Published in:
- 2016
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- Publication type:
- journal article
Exercise intolerance due to cytochrome b mutation.
- Published in:
- Muscle & Nerve, 2010, v. 42, n. 1, p. 136, doi. 10.1002/mus.21649
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- Publication type:
- Article
Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation.
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- Muscle & Nerve, 2009, v. 39, n. 3, p. 374, doi. 10.1002/mus.21157
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- Publication type:
- Article
Human mitochondrial transfer RNAs: Role of pathogenic mutation in disease.
- Published in:
- Muscle & Nerve, 2008, v. 37, n. 2, p. 150, doi. 10.1002/mus.20917
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- Publication type:
- Article
Pathogenic mitochondrial DNA mutations in protein-coding genes.
- Published in:
- 2007
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- Publication type:
- journal article
Hearing Loss in Mitochondrial Disorders.
- Published in:
- Annals of the New York Academy of Sciences, 2005, v. 1042, n. 1, p. 36, doi. 10.1196/annals.1338.004
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- Publication type:
- Article
Somatic Mitochondrial DNA Mutations in Oral Cancer of Betel Quid Chewers.
- Published in:
- Annals of the New York Academy of Sciences, 2004, v. 1011, n. 1, p. 310, doi. 10.1196/annals.1293.030
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- Publication type:
- Article
Quantitative PCR Analysis of Mitochondrial DNA Content in Patients with Mitochondrial Disease.
- Published in:
- Annals of the New York Academy of Sciences, 2004, v. 1011, n. 1, p. 304, doi. 10.1196/annals.1293.029
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- Publication type:
- Article
Comprehensive Molecular Diagnosis of Mitochondrial Disorders.
- Published in:
- Annals of the New York Academy of Sciences, 2004, v. 1011, n. 1, p. 246, doi. 10.1196/annals.1293.024
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- Publication type:
- Article
Enhanced Detection of Deleterious Mutations by TTGE Analysis of Mother and Child's DNA Side by Side.
- Published in:
- Annals of the New York Academy of Sciences, 2004, v. 1011, n. 1, p. 299, doi. 10.1196/annals.1293.028
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- Publication type:
- Article
Phenotypic variability in deficiency of the α subunit of succinate‐CoA ligase.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 46, n. 1, p. 63, doi. 10.1002/jmd2.12018
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- Publication type:
- Article
Mutation Analysis By The Use of Temporal Temperature Gradient Gel Electrophoresis.
- Published in:
- Turkish Journal of Medical Sciences, 2005, v. 35, n. 5, p. 279
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- Publication type:
- Article
AT<sub>1</sub> receptors and hypertension in human GRK4 gamma A142V transgenic mice
- Published in:
- 2005
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- Publication type:
- Abstract
Correction: Crosstalk from Non-Cancerous Mitochondria Can Inhibit Tumor Properties of Metastatic Cells by Suppressing Oncogenic Pathways.
- Published in:
- PLoS ONE, 2019, v. 14, n. 8, p. 1, doi. 10.1371/journal.pone.0221671
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- Publication type:
- Article
Comprehensive One-Step Molecular Analyses of Mitochondrial Genome by Massively Parallel Sequencing.
- Published in:
- Clinical Chemistry, 2012, v. 58, n. 9, p. 1322, doi. 10.1373/clinchem.2011.181438
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- Publication type:
- Article
Quantitative Evaluation of the Mitochondrial DNA Depletion Syndrome.
- Published in:
- Clinical Chemistry, 2010, v. 56, n. 7, p. 1119, doi. 10.1373/clinchem.2009.141549
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- Publication type:
- Article
Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.
- Published in:
- 2020
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- Publication type:
- journal article
Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism.
- Published in:
- BMC Pediatrics, 2002, v. 2, p. 12, doi. 10.1186/1471-2431-2-12
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- Publication type:
- Article
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.
- Published in:
- Journal of Neurology, 2012, v. 259, n. 5, p. 862, doi. 10.1007/s00415-011-6268-6
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- Publication type:
- Article
Heterogeneous patterns of tissue injury in NARP syndrome.
- Published in:
- Journal of Neurology, 2011, v. 258, n. 3, p. 440, doi. 10.1007/s00415-010-5775-1
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- Publication type:
- Article
Biochemical analysis of human POLG2 variants associated with mitochondrial disease.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 15, p. 3052, doi. 10.1093/hmg/ddr209
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- Publication type:
- Article
Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.
- Published in:
- PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0170517
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- Publication type:
- Article
Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis.
- Published in:
- PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0165405
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- Publication type:
- Article
Individualizing antimetabolic treatment strategies for head and neck squamous cell carcinoma based on TP53 mutational status.
- Published in:
- Cancer (0008543X), 2012, v. 118, n. 3, p. 711, doi. 10.1002/cncr.26321
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- Publication type:
- Article
Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Clinical and laboratory interpretation of mitochondrial mRNA variants.
- Published in:
- Human Mutation, 2020, v. 41, n. 10, p. 1783, doi. 10.1002/humu.24082
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- Publication type:
- Article
ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa.
- Published in:
- Human Mutation, 2016, v. 37, n. 3, p. 246, doi. 10.1002/humu.22940
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- Publication type:
- Article
Mutations and Polymorphisms in the Human Argininosuccinate Lyase ( ASL) Gene.
- Published in:
- Human Mutation, 2014, v. 35, n. 1, p. 27, doi. 10.1002/humu.22469
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- Publication type:
- Article
Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects.
- Published in:
- Human Mutation, 2013, v. 34, n. 6, p. 882, doi. 10.1002/humu.22307
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- Publication type:
- Article
SURF1-associated leigh syndrome: A case series and novel mutations.
- Published in:
- Human Mutation, 2012, v. 33, n. 8, p. 1192, doi. 10.1002/humu.22095
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- Publication type:
- Article
Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. 579, doi. 10.1002/humu.21406
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- Publication type:
- Article
Molecular spectrum of SLC22A5 ( OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. E1632, doi. 10.1002/humu.21311
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- Publication type:
- Article
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
- Published in:
- Human Mutation, 2008, v. 29, n. 9, p. E150, doi. 10.1002/humu.20824
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- Publication type:
- Article
Erratum: Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients.
- Published in:
- 2005
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- Publication type:
- Erratum
Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients.
- Published in:
- Human Mutation, 2004, v. 24, n. 4, p. 353, doi. 10.1002/humu.9281
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- Publication type:
- Article