Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort

[1]  M. Gribaa,et al.  Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients. , 2012, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[2]  J. Del-Favero,et al.  Targeted screening and validation of copy number variations. , 2012, Methods in molecular biology.

[3]  R. Kasiviswanathan,et al.  Biochemical analysis of the G517V POLG variant reveals wild-type like activity. , 2011, Mitochondrion.

[4]  W. Craigen,et al.  Mitochondrial DNA polymerase γ mutations: an ever expanding molecular and clinical spectrum , 2011, Journal of Medical Genetics.

[5]  A. Paetau,et al.  POLG1 manifestations in childhood , 2011, Neurology.

[6]  Meredith Wilson,et al.  Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome. , 2011, Mitochondrion.

[7]  C. Richelme,et al.  The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein , 2010, Journal of Medical Genetics.

[8]  D. Gilbert,et al.  Rare Autosomal Dominant POLG1 Mutation in a Family With Metabolic Strokes, Posterior Column Spinal Degeneration, and Multi-Endocrine Disease , 2010, Journal of child neurology.

[9]  S. Dimauro,et al.  A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. , 2010, Archives of neurology.

[10]  Y. Yin,et al.  Structural Insight into Processive Human Mitochondrial DNA Synthesis and Disease-Related Polymerase Mutations , 2009, Cell.

[11]  H. Smeets,et al.  The unfolding clinical spectrum of POLG mutations , 2009, Journal of Medical Genetics.

[12]  A. Pagnamenta,et al.  Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion , 2009, Human mutation.

[13]  A. Tchirkov,et al.  Gene dosage methods as diagnostic tools for the identification of chromosome abnormalities. , 2008, Pathologie-biologie.

[14]  J. Ganesh,et al.  Molecular and clinical genetics of mitochondrial diseases due to POLG mutations , 2008, Human mutation.

[15]  Robert W. Taylor,et al.  POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease. , 2008, Archives of neurology.

[16]  A. Munnich,et al.  Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay , 2007, European Journal of Human Genetics.

[17]  W. Copeland,et al.  Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders. , 2006, Human molecular genetics.

[18]  N. Drouot,et al.  Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation , 2006, European Journal of Human Genetics.

[19]  A. Munnich,et al.  Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay , 2006, European Journal of Human Genetics.

[20]  E. Holme,et al.  POLG1 Mutations Associated With Progressive Encephalopathy in Childhood , 2006, Journal of neuropathology and experimental neurology.

[21]  R. Horvath,et al.  Fatal Neonatal-Onset Mitochondrial Respiratory Chain Disease with T Cell Immunodeficiency , 2006, Pediatric Research.

[22]  Robert W. Taylor,et al.  Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Commentary , 2006 .

[23]  P. Pignatti,et al.  Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms , 2006, European Journal of Human Genetics.

[24]  B. Bornstein,et al.  Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. , 2006, Archives of neurology.

[25]  Robert W. Taylor,et al.  Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. , 2006, Brain : a journal of neurology.

[26]  R. Naviaux,et al.  POLG mutations in Alpers syndrome , 2005, Neurology.

[27]  W. Copeland,et al.  The Common A467T Mutation in the Human Mitochondrial DNA Polymerase (POLG) Compromises Catalytic Efficiency and Interaction with the Accessory Subunit* , 2005, Journal of Biological Chemistry.

[28]  D. Turnbull,et al.  Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations , 2005, Neurology.

[29]  M. Zeviani,et al.  Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. , 2005, Brain : a journal of neurology.

[30]  C. Broeckhoven,et al.  Digenic progressive external ophthalmoplegia in a sporadic patient: Recessive mutations in POLG and C10orf2/Twinkle , 2003, Human mutation.

[31]  W. Copeland,et al.  DNA Polymerase Gamma in Mitochondrial DNA Replication and Repair , 2003, TheScientificWorldJournal.

[32]  V. Tiranti,et al.  Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia , 2002, Annals of neurology.

[33]  C. Broeckhoven,et al.  Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions , 2001, Nature Genetics.

[34]  N. Drouot,et al.  Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments. , 2000, Cancer research.

[35]  C. Desnuelle,et al.  Rapid mapping of mitochondrial dna deletions by large-fragment PCR. , 1996, Trends in genetics : TIG.

[36]  S. Dimauro,et al.  Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. , 1989, The New England journal of medicine.