N. Deburgrave

发表

A novel mutation (Arg→Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A

M. Baudis, K. Nafa, J. Kaplan, 1992, Human mutation.

Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non‐invasive prenatal diagnosis of achondroplasia

F. Leturcq, J. Nectoux, V. Tsatsaris, 2016, Prenatal diagnosis.

De novo mutation in hemophilia A established by DNA haplotype analysis and precluding prenatal diagnosis

M. Baudis, J. Kaplan, M. Delpech, 1986, Human Genetics.

Multitissular involvement in a family with LMNA and EMD mutations

A. Toutain, F. Leturcq, D. Babuty, 2007, Neurology.

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.

F. Rivier, A. Toutain, B. Echenne, 2009, Human molecular genetics.

X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation

R. Weiss, K. Flanigan, C. Béroud, 2020, Skeletal Muscle.

Non‐invasive prenatal diagnosis of single gene disorders by paternal mutation exclusion: 3 years of clinical experience

D. Vidaud, F. Leturcq, J. Nectoux, 2022, BJOG : an international journal of obstetrics and gynaecology.

Revised spectrum of mutations in sarcoglycanopathies

F. Leturcq, J. Kaplan, J. Chelly, 2008, European Journal of Human Genetics.

A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey

J. Beckmann, C. de Toma, K. Campbell, 1997, Annals of neurology.

Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.

K. Campbell, N. Romero, F. Leturcq, 1997, Neurology.

Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression.

F. Muntoni, S. Manilal, F. Leturcq, 1998, Human molecular genetics.

When a mid-intronic variation of DMD gene creates an ESE site

F. Leturcq, J. Chelly, N. Deburgrave, 2014, Neuromuscular Disorders.

Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes

M. Cossée, F. Leturcq, J. Chelly, 2013, European Journal of Human Genetics.

Detection of exonic copy‐number changes using a highly efficient oligonucleotide‐based comparative genomic hybridization‐array method

M. Cossée, F. Leturcq, J. Chelly, 2008, Human mutation.

Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms.

M. Cossée, M. Claustres, F. Leturcq, 2016, Journal of neuromuscular diseases.

Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells

K. Flanigan, P. Mangeot, M. Peschanski, 2015, Skeletal Muscle.

Protein‐ and mRNA‐based phenotype–genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

C. Béroud, F. Leturcq, J. Kaplan, 2007, Human mutation.

Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene

C. Béroud, F. Leturcq, J. Kaplan, 2004, Neuromuscular Disorders.

Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy

F. Leturcq, N. Deburgrave, Yuqing Wen, 2006, Clinical Neurology and Neurosurgery.

Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy.

F. Leturcq, J. Kaplan, D. Miličić, 2000, Croatian medical journal.

How a paternal uniparental isodisomy of chromosome 17 leads to autosomal recessive limb-girdle muscular dystrophy-3

L. Cuisset, F. Leturcq, J. Nectoux, 2023, Neuromuscular Disorders.

Prenatal diagnosis of recessive congenital methaemoglobinaemia type II: novel mutation in the NADH‐cytochrome b5 reductase gene leading to stop codon read‐through

F. Leturcq, M. Szajnert, N. Deburgrave, 2005, European journal of haematology.

Miyoshi-like distal myopathy with mutations in anoctamin 5 gene.

F. Bouquet, M. Cossée, F. Leturcq, 2012, Revue neurologique.

Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells

K. Flanigan, P. Mangeot, M. Peschanski, 2015, Skeletal Muscle.

A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase loci

N. Romero, F. Leturcq, J. Kaplan, 1997, Neuromuscular Disorders.

Detection of exonic copy‐number changes using a highly efficient oligonucleotide‐based comparative genomic hybridization‐array method

M. Cossée, F. Leturcq, J. Chelly, 2008, Human mutation.