PUBLICATIONS – COMMUNICATIONS SCIENTIFIQUES

 

 

 

1990

 

 

 

 Melki J, Abdelhak S, Sheth P, Bachelot MF, Burlet P et al.

Gene for proximal spinal muscular atrophies maps to chromosome 5q.

Nature 344:767-768

 

Melki J, Sheth P, Abdelhak S, Burlet P et al.

Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14.

Lancet 336:271-273

 

Melki J, Abdelhak S, Sheth P, Bachelot MF, Burlet P et al.

Chromosomal localisation of chronic proximal spinal muscular atrophies of childhood

Journal of the Neurological Sciences 98

 

Abdelhak S.,Melki j, Bachelot M.F., Burlet P et al.

A PstI polymorphism at the D5S39 locus

Nucleic Acid Research 18:5580

 

Melki J, Abdelhak S, Sheth P, Bachelot MF, Burlet P et al.

Chromosomal localisation of chronic proximal spinal muscular atrophies of childhood

Journal of Neurology 237

 

Melki J, Abdelhak S, Sheth P, Bachelot MF, Burlet P, et al.

Chromosomal localisation of chronic proximal spinal muscular atrophies of childhood

Second Meeting of the European Neurological Society

 

Melki J, Sheth P, Abdelhak S, Burlet P, Bachelot MF, Lathrop M, Frezal J, et al.

Mapping of the childhood spinal muscular atrophy locus to chromosome 5q12-q14.

American Journal of Human Genetics 47:3;1401

 

 

1991

 

 

 

 

 

Sheth P., Abdelhak S., Bachelot M.F., Burlet P et al.

Linkage analysis in spinal muscular atrophy, by six closely flanking markers on chromosome 5.

Am. J. Hum. Genet. 48:764-768.

 

Mattei M.G., Melki j., Bachelot M.F., Abdelhak S., Burlet P. et al.

In situ hybridisation of two markers closely flanking the SMA gene to 5q12-q13.3

Cyto Genet and Cell Genet 57: 112-113

 

Abdelhak S., Burlet P. et al.

Generation of new DNA probes in the vicinity of the SMA locus

Human Gene mapping 27443

 

Melki j., Abdelhak S., Burlet P. et al.

Prenatal diagnosis of SMA using polymorphic DNA probes of the 5q12-q14 region

Human Gene mapping 27444

 

Abdelhak S., Burlet P. et al.

Generation of new DNA probes in the vicinity of the SMA locus

International congress of Human genetics 2101

 

Melki j., Abdelhak S., Burlet P. et al.

Cartographie génétique des amyotrophies spinales de l’enfant

Colloque National sur les Maladies Neuromusculaires p 11

 

Abdelhak S., Burlet P. et al.

Generation of new DNA probes in the vicinity of the SMA locus

Colloque National sur les Maladies Neuromusculaires p 80

 

Melki j., Abdelhak S., Burlet P. et al.

Prenatal diagnosis of SMA using polymorphic DNA probes of the 5q12-q14 region

Colloque National sur les Maladies Neuromusculaires p 370

 

 

 

1992

 

 

 

Melki, J., Burlet P. et al.

High resolution genetic map of new DNA markers closely flanking the SMA locus

Cyto Genet and Cell Genet 61: 233

 

Melki J, Abdelhak S, Burlet P et al.

Prenatal prediction of Werdnig-Hoffmann disease

Journal of medical Genetics 29:171-174

 

Muller B, Melki J, Burlet P et al.

Proximal SMA type II and III in the same sibship are not caused by different alleles

Am. J. Hum. Genet. 50:892-895

 

Melki J, Burlet P et al .

High resolution genetic map of new DNA markers closely flanking the SMA locus

International workshop on chromosome 5  

 

Muller B, Melki J, Burlet P et al .

No evidence for allelic heterogeneity between SMA type II and III at the SMA locus

European Society of Human Genetics 210

 

Melki J, Abdelhak S, Burlet P et al .

Clinical and molecular genetics of SMA

European Society of Human Genetics 196

 

Sequeiros, Manaia, Silveira, Coutinho, Loureiro, Melki, Rozet, Burlet et al.

Linkage analysis of Machado-Joseph.

Am. J. Hum. Genet. 51:1470

 

Melki J, Burlet P et al .

Physical map around the spinal muscular atrophy locus using yeast artificial chromosomes.

Am. J. Hum. Genet. 51:953

 

 

 

1993

 

 

 

 

Melki, J., Burlet P et al.

Refined linkage map of chromosome 5 in the region of the spinal muscular atrophy gene.

Genomics 15: 521-524.

 

Burlet P et al.

Trinucleotide repeat polymorphism at the D5S556 locus .

Human Molecular genetics 2:1328

 

Melki, J., Lefebvre S, Bürglen L, Burlet P. et al.

Carte génétique et physique haute resolution au locus des Amyotrophies Spinales

Colloque National sur les Maladies Neuromusculaires p35.

 

Clermont O, Burlet P. et al.

Identification of new DNA markers closely flanking the SMA locus

Colloque National sur les Maladies Neuromusculaires p 132

 

Lefebvre S, Bürglen L, Burlet P.et al.

Application de l’exon trapping pour la recherche de gènes candidats

Colloque National sur les Maladies Neuromusculaires p 213

 

Clermont, O., Burlet P. et al.

Identification of new polymorphic DNA markers closely flanking the SMA locus

Am. J. Hum. Genet. 53:987.

 

Lefebvre S, Bürglen L, Burlet P, et al.

Cloning candidate genes from the SMA region by exon trapping amplification

Am. J. Hum. Genet. 53:1787.

 

Lefebvre S, Bürglen L, Burlet P, et al.

Duplication and amplification of the 5q13 spinal muscular atrophy region

Am. J. Hum. Genet. 53:1329.

 

Silveira I, Manaia A, Melki J, Magarino C, Lunkes A, Hernandez A, Gispert S, Burlet et al.

Machado-Joseph disease is genetically different from Holguin dominant Ataxia

Genomics 15: 521-524.

 

 

1994

 

 

 

 

Sequeiros J, Silveira I, Maciel P, Coutinho P, Manaia A, Gaspar C, Burlet P et al.

Genetic Linkage studies of Machado-Joseph.

Genomics 21:645-652

 

Melki J, Lefebvre S, Bürglen L, Burlet P et al.

Physical study of big fragments and search strategy of genes. Application to locus of infant spinal muscular atrophies.

C R Seances Soc Biol Fil . 188:495-8

 

Melki J, Lefebvre S, Bürglen L, Burlet P et al.

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.

Science 264:1474-1477

 

Melki J, Lefebvre S, Bürglen L, Burlet P et al

Délétions héritées et de novo dans les Amyotrophies Spinales

Médecine:Sciences 10:889-891

 

Clermont, O., Burlet P.et al.

Use of genetic and physical mapping to locate the spinal muscular atrophy locus

European society of Human Genetics 502

 

Melki J, Lefebvre S, Bürglen L, Burlet P, et al

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.

European society of Human Genetics 338

 

Lefebvre S., Burglen L., Clermont, O., Reboulet S, Burlet P et al.

Identification of a gene from the SMA 5q13 region

European society of Human Genetics 295

 

Lefebvre S., Burglen L., Zeviani M, Burlet P., Pascal F.et al.

Cloning genes from the SMA region using the exon trapping system

European society of Human Genetics 31

 

Clermont, O., Burlet P.et al.

Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers.

Am. J. Hum. Genet. 54:687-694.

 

Lefebvre S, Reboullet S, Benichou B, Bürglen L, Clermont O, Burlet P, et al.

Isolation and characterization of candidate genes of the 5q13 region

Am. J. Hum. Genet. 54:1538.

 

Bürglen L, Lefebvre S, Burlet P et al.

Deletion mapping of the SMA region

Am. J. Hum. Genet. 55:1491

 

 

1995

 

 

 

  1.  

Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P et al.

Identification and characterization of a spinal muscular atrophy-determining gene.

Cell 80:155-165

 

Bürglen L, Lefebvre S, Reboullet S, Clermont O, Burlet P et al.

Identification et caractérisation d'un gène déterminant dans les Amyotrophies Spinales

Médecine:Sciences 11:149-151

 

Clermont O, Burlet P et al.

SMN gene deletion in adult-onset spinal muscular atrophy .

The Lancet: 346:1712

 

Lefebvre S, Bürglen L, Viollet L, Burlet P, et al.

Molecular genetics of SMA

Meeting of European Neurosciences 5.01

 

Lefebvre S, Bürglen L, reboullet S, Clermont O, Burlet P, et al.

Molecular characterization of SMA determining gene

European Society of Human Genetics w8

 

Lefebvre S, Bürglen L, Viollet L, Burlet P, et al.

Molecular characterization of SMA determining gene

Genetic Society P2

 

Clermont O, Bürglen L, Burlet P, Lefebvre S, et al.

Analyse génétique de familles présentant des cas de SMA dans différentes branches

Club de Clonage Positionnel   p 22

 

Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P et al.

Identification and characterization of SMA determining gene

Club de Clonage Positionnel   p 34

 

Bürglen L, Spiegel R, Clermont O, Burlet P, , et al.

Etude de la region 5q13 dans 6 cas de SMA avec cardiopathie congénitale

Club de Clonage Positionnel   p 19

 

Bürglen L, Lefebvre S, Burlet P, et al.

Genomic organisaton of the human survival motor neuron gene

Journée scientifique de l’UFR Necker

 

Burlet P, et al.

Large deletions involving SMN, NAIP genes and markers C212-272

Journée scientifique de l’UFR Necker

 

Clermont O, Bürglen L, Burlet P, et al.

Genetic analysis of unusual SMA pedigrees using SMN, NAIP genes and markers C212-272

Journée scientifique de l’UFR Necker

 

Clermont O, Bürglen L, Burlet P, Lefebvre S, et al.

Genetic analysis of unusual pedigrees using SMN, NAIP genes and markers C212 and C272.

Am. J. Hum. Genet. 57 :1370.

 

Viollet L, Bürglen L, Lefebvre S, Burlet P, Clermont O, et al.

Identification, comparative mapping and developpemental studies of the mouse homologue of the SMN gene.

Am. J. Hum. Genet. 57 :864.

 

Lefebvre S, Bürglen L, Burlet P, et al.

Immunodetection of the survival motor neuron gene products (SMN) in controls and SMA patients.

Am. J. Hum. Genet. 57 828.

 

Melki J, Burlet P, Bürglen L, Clermont O, Lefebvre S et al.

Large deletions involving SMN, NAIP genes and markers C212-272

Am. J. Hum. Genet. 57 142

 

Bürglen L, Lefebvre S, Clermont O, Burlet P, Viollet L et al.

Genomic organisation of the human survival motor neurone gene.

Am. J. Hum. Genet. 57 :799.

 

Burlet P, et al.

Etude comparative des  gènes SMN et NAIP dans les SMA

EPHE

 

Clermont O, Burglen L, Burlet P, et al.

Analyse génétique de familles présentant des cas de SMA dans différentes branches.

EPHE

 

 

1996

 

 

 

 

  1.  

Bürglen L, Lefebvre S, Clermont O, Burlet P et al.

Structure and organisation of the human survival motor neurone gene.

genomics. 32:479-482

 

Burlet P et al.

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.

Journal of Medical Genetics. 33:281-283

 

Bürglen L, Amiel J, Viollet L, Lefebvre S, Burlet P et al.

SMN gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

Journal of clinical investigation.98:1130-1132

 

  1.    

Bertrandy S, Lefebvre S, Burlet P et al.

Approche moleculaire d´une degenerescence du motoneurone spinal : Les maladies de Werdnig-Hoffmann et de Kugelberg- Welander.

Annales de l´Institut Pasteur. 7:187-192

 

Lefebvre S, Burlet P et al.

Strong correlation between the SMN protein level and SMA phenotypes.

American Journal of Human Genetics. 59:1550

 

Viollet L, Bertrandy S, Brunialti A, Lefebvre S, Clermont O, Burlet P et al.

The mouse survival motor neuron gene. cDNA isolation, expression and chromosome mapping.

American Journal of Human Genetics. 59:913

 

Bürglen L, Seroz T., Miniou P., Lefebvre S, Burlet P, et al.

The gene encoding P44, a subunit of the transcription factor TFIIH is involved in large scale deletions associated with Werdnig-Hoffmann disease.

American Journal of Human Genetics. 59:822

 

Burlet P et al.

Large scale deletions involving NAIP and SMN are specific to Werdnig-Hoffmann disease.

European Society of Human Genetic   5.115

 

Viollet L, Lefebvre S, Bertrandy S, Burlet P et al.

Identification, comparative mapping and developmental studies of the mouse homologue.

European Society of Human Genetic   9.005

 

Bürglen L, Lefebvre S, Burlet P L et al.

genomic organisation of the human survival motor neurone gene.

European Society of Human Genetic   5.113

 

Lefebvre S, Burlet P et al.

Analyses of the SMN gene products

European Society of Human Genetic   5.116

 

Clermont O, Bürglen L, Burlet P et al.

Genetic analyses of unusual pedigrees

European Society of Human Genetic   5.117

 

Lefebvre S, Bürglen L, Burlet P et al.

Molecular genetic of SMA

Human Gene Mapping 96

 

Bürglen L, Amiel J, Viollet L, Lefebvre S, Burlet P et al.

SMN gene deletion in the arthrogryposis multiplex congenital SMA

Neuromuscular Disorders SP21

 

Viollet L, Bürglen L, Lefebvre S, Burlet P et al.

Identification, comparative mapping and developmental studies of the mouse homologue.

Neuromuscular Disorders So5

 

Lefebvre S, Burlet P et al.

Strong correlation between the SMN protein level and SMA phenotype

Neuromuscular Disorders So2

 

Bürglen L, Seroz T., Miniou P., Lefebvre S, Burlet P et al.

The gene encoding P44, a subunit of the transcription factor TFIIH is involved in large scale deletions associated with Werdnig-Hoffmann disease.

Neuromuscular Disorders So3

 

Bürglen L, Seroz T., Miniou P., Lefebvre S, Burlet P et al.

The gene encoding P44, a subunit of the transcription factor TFIIH is involved in large scale deletions associated with Werdnig-Hoffmann disease.

Club de Clonage Positionnel

 

Lefebvre S, Burlet P et al.

Strong correlation between the SMN protein level and SMA phenotype

Club de Clonage Positionnel

 

Viollet L, Bertrandy S, Brunialti A, Lefebvre S, Clermont O, Burlet P et al.

The mouse survival motor neuron gene. cDNA isolation, expression and chromosome mapping.

Club de Clonage Positionnel

 

Lefebvre S, Burlet P et al.

The SMN protein : the primary defect in SMA.

Neuromuscular Disorders in Childhood L3

 

Lefebvre S, Bürglen L, Viollet L, Burlet P et al.

Identification and characterization of determining gene in SMA

International workshop between Japan and France

 

Viollet L, Bertrandy S, Brunialti A, Lefebvre S, Clermont O, Burlet P et al.

The mouse survival motor neuron gene. cDNA isolation, expression and chromosome mapping.

Colloque National sur les Maladies Neuromusculaires p 327.

 

Lefebvre S, Burlet P, Bertrandy S, Clermont O, Bürglen L et al.

Correlation étroite entre le taux de protéine SMN et la sévérite

Colloque National sur les Maladies Neuromusculaires p 210.

 

Bürglen L, Seroz T., Miniou P., Lefebvre S, Burlet P et al.

The gene encoding P44, a subunit of the transcription factor TFIIH is involved in large scale deletions associated with Werdnig-Hoffmann disease.

Colloque National sur les Maladies Neuromusculaires p 110.

 

Melki J, Lefebvre S, Bertrandy S, Viollet L, Bürglen L , Burlet P et al.

De la clinique au produit du gène

Colloque National sur les Maladies Neuromusculaires p 22.

 

Viollet L, Bertrandy S, Brunialti A, Lefebvre S, Clermont O, Burlet P et al.

The mouse survival motor neuron gene. cDNA isolation, expression and chromosome mapping.

Club du motoneurone p 77

 

 

1997

 

 

 

 

Viollet L, Bertrandy S, Brunialti A, Lefebvre S, Clermont O, Burlet P,   et al.

cDNA isolation, expression and chromosomal localisation of the mouse survival motor neuron gene.

Genomics. 40:185-188

 

Lefebvre S, Burlet P, et al.

Correlation between severity and SMN protein level in spinal muscular atrophy

Nature Genetics : 16 : 265-269

 

Bürglen L, Seroz T., Miniou P., Lefebvre S, Burlet P et al.

The gene encoding P44, a subunit of the transcription factor TFIIH is involved in large scale deletions associated with Werdnig-Hoffmann disease.

American Journal of Human Genetics. 60:72-79

 

Burlet P, et al.

Immunodetection of the SMN protein

American Journal of Human Genetics. 61 : 1915

 

Clermont O, Burlet P, et al.

Mutation analysis of the SMN gene in undeleted SMA patients

American Journal of Human Genetics. 61 : 1923

 

Bertrandy S, Clermont O, Burlet P, et al.

The SMN gene is conserved during evolution

American Journal of Human Genetics. 61 : 2223

 

Lefebvre S, Burlet P, et al.

Characterization of the ribonucleoprotein complex containing SMN

American Journal of Human Genetics. 61 : 1013

 

Lefebvre S, Burlet P, et al.

the SMN protein the primary defect in SMA

European Journal of Human genetics s 43

 

Burglen L, Amiel J, Viollet L, Lefebvre S, Burlet P, et al.

Deletion du gene SMN dans l’association Arthrogrypose-SMA.

Archives de pédiatrie ; 4 : 908

 

 

 

 

 

 

1998

 

 

 

 

Burlet P, et al.

The distribution of SMN protein complex in human fetal tissues and its alteration in SMA

Human Molecular genetics 7:1927-1933

 

100.  

Burlet P, et al.

Immunodetection of the SMN protein in human fetal tissues

European Journal of Human genetics 6 : 017

 

101.  

Bertrandy S, Clermont O, Burlet P, et al.

A putative RNA binding motif is detected by computer search in the Zebrafish SMN gene, an orthologue of the SMA disease gene

European Journal of Human genetics 6 : 054

 

102.  

Bertrandy S, Clermont O, Burlet P, et al.

Recombinant SMN protein from the zebrafish ortholog of the SMA-causing gene

American Journal of Human Genetics. 63 : 1516

 

103.  

Burlet P, et al.

The distribution of SMN protein complex in human fetal tissues

American Journal of Human Genetics. 63 : 904

 

 

1999

 

 

 

 

104.  

Bertrandy S, Burlet P et al.

The RNA binding properties of SMN

Human Molecular genetics 8:775-782

 

105.  

Burlet P, et al.

SMN protein is associated to large cytoplasmic dot like structure in human fetal muscle

European Journal of Human genetics 7 : 324

 

106.  

Bertrandy S, Burlet P, et al.

The RNA binding properties of SMN : deletion analysis of the zebrafish ortholog defines domains conserved in evolution

European Journal of Human genetics 7 : 441

 

107.  

Burlet P, et al.

Fonctional analyses of SMN/SMNc gene expression : therapeutic implications in spinal muscular atrophy

American Journal of Human Genetics. 65 : 1729

 

108.  

Lefebvre S, Burlet P, et al.

The loss of function of a SMN frameshit mutation in SMA

American Journal of Human Genetics. 65 : 279

 

109. 

Viollet L, Barois A, Burlet P, et al.

Autosomal Recessive Distal Spinal muscular Atrophy with diaphragmatic palsy in childhood is not linked to 5q13 SMA locus.

American Journal of Human Genetics. 65 : 2558

 

110.  

Bertrandy S, Lefebvre S, Burlet P, et al.

Double stranded RNA-mediated genetic interference of SMN leads to embryonic lethalithy in the nematode C. elegans

European Journal of Human genetics 7 : 076

 

111.  

Lefebvre S, Bertrandy S, Burlet P, et al.

The evolutionary conserved RNA binding properties of SMN

BIOCHIMIE 6 : 271

 

 

 

2000

 

 

 

 

112. 

Burlet P, et al.

Therapeutic implications by upregulating SMN2 expression in Spinal Muscular Atrophy

American Journal of Human Genetics. 67-2439

 

113.  

Lefebvre S, Bertrandy S, Burlet P, Belser C, Viollet L et al.

The loss of function of SMN frameshift mutation 472del5 in SMA

American Journal of Human Genetics. 67-210

 

114. 

Viollet l, Leclair-Richard D, Burlet P, Belser C, Vial E et al.

A new varient for autosomal recessive spinal muscular atrophy in childhood

American Journal of Human Genetics. 67-563

 

115. 

Vial e, Burlet P, et al.

SMA carrier detection using real time quantitative taq man PCR

Myologie 2000 499

 

116.  

Lefebvre S, Bertrandy S, Burlet P, et al.

The loss of function of SMN frameshift mutation 472del5 in SMA

Myologie 2000 492

 

117. 

Burlet P, et al.

Therapeutic implications in SMA by fonctional analysis of SMN/SMNc gene expression

Myologie 2000 485

 

118. 

Viollet l, Barrois A, Burlet P, et al.

The locus for neonatal SMA with respiratory distress on chromosome 11q13-q21 is candidate for autosomal recessive distal spinal muscular atrophy with diaphragmatic palsy in childhood

Myologie 2000 500

 

119.  

Lefebvre S, Bertrandy S, Burlet P, et al.

The loss of function of SMN frameshift mutation 472del5 in SMA

European Journal of Human genetics p-478

 

120.  

Burlet P, et al.

Therapeutic implications of SMNc protein in SMA

European Journal of Human genetics p-738

 

121.  

Vial e, Burlet P, et al.

SMA carrier detection using real time quantitative taq man PCR

European Journal of Human genetics p-520

 

122.  

Viollet l, Barrois A, Burlet P, et al.

Autosomal recessive distal SMA with diaphragmatic palsy in childhood and SMA with respiratory distress are linked to the same locus

European Journal of Human genetics p-669

 

 

 

 

 

2001

 

 

 

 

123.  

Burlet P et al.

SMN2 gene stimulations give differential expression in SMA and control cultured cells

American Journal of Human Genetics. 69 : 2937

 

124. 

Vial e, Burlet P et al.

SMA carrier detection using real time quantitative taq man PCR

American Journal of Human Genetics. 69 : 1434

 

125. 

Viollet l, Burlet P et al.

Mapping of autosomal recessive distal spinal muscular atrophy to chromosome 11q13 in a large kindred

American Journal of Human Genetics. 69 : 1863

 

126.  

Lefebvre S, Burlet P, et al.

A novel association of the SMN protein with two major non-ribosomal nucleolar proteins is altered in spinal muscular atrophy

American Journal of Human Genetics. 69 : 981

 

127.  

Lefebvre S, Burlet P, et al.

A novel association of the SMN protein with two major non-ribosomal nucleolar proteins is altered in spinal muscular atrophy

Familly of SMA p16

 

128.  

Gendron N, Lefebvre S, DiDonato C, Doyle A, Burlet P, et al.

High throughput screening for drugs upregulating SMN2 

Familly of SMA p36

 

 

 

2002

 

 

 

 

 

 

129.  

Viollet L, Zarhate M, Burlet P et al 

Novel IGHMBP2 mutations in SMARD1

American Journal of Human Genetics. 71:670

 

 

130.  

Lefebvre S, Burlet P et al.

A novel association of the SMN protein with two major non-ribosomal nucleolar

proteins and its implication in spinal muscular atrophy.

Hum Mol Genet. May 1;11(9):1017-27.

 

131.  

Viollet L, Barois A, Rebeiz JG, Rifai Z, Burlet P et al.

Mapping of autosomal recessive chronic distal spinal muscular atrophy to

chromosome 11q13.

Ann Neurol. May;51(5):585-92

 

132.  

Viollet L, Burlet P et al.

Etude génétique des amyotrophies spinales distales chroniques de l’enfant

Assises de génétique 2002 :365, p110

 

 

2003

 

 

 

 

 

133.  

Gigarel, N, Burlet P, et al.

Single cell co-amplification of microsatellite markers for preimplantation genetic diagnosis by haplotype analysis of Xq28 disease genes.

American society of Human Genetics 73: 2516

 

134.  

Ray P, Burlet P, et al.

Etat des lieux sur le DPI moléculaire

Séminaire Pierre Royer

 

135. 

Burlet P, et al.

The importance of blastomere tubing.

Human Reproduction 18: 566

 

136.  

Gigarel, N, Burlet P, et al.

Single cell co-amplification of polymorphic markers on Xq28 for the preimplantation genetic diagnosis by linkage analysis of hemophilia A, adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti.

Human Reproduction 18: O : 107

 

137.  

Ray P, Burlet P, et al.

Etat des lieux sur le DPI moléculaire

Quatrième journée génétique et procréation

 

138.   

Burlet P, et al.

Le diagnostic pré-implantatoire d’amyotrophie spinale

Colloque amyotrophies spinales infantiles

 

139. 

Burlet P, et al.

Extension des indications du DPI

Découverte des génomes et expression des gènes

 

140. 

Burlet P, et al.

Le diagnostic pré-implantatoire moléculaire

Colloque ATC - Genève

 

 

 

 

2004

 

 

 

 

 

 

141. 

Gigarel N, Frydman N, Burlet P, et al.

Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28.

Hum Genet. 2004 Feb;114(3):298-305.

 

142.  

Clermont O, Burlet P, et al.                                                                                                                                                           

Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.

Hum Mutat. 2004 Nov;24(5):417-27.

 

143. 

Gigarel N, Burlet P, et al.

Diagnostic préimplantatoire de l’hémophilie A, de l’adrénoleucodystrophie liée à l’X, de l’hydrocéphalie liée à l’X et de l’incontinentia pigmenti par analyse de ségrégation de marqueurs polymorphes en Xq28.

Assises de génétique

 

144. 

Steffann J, Gigarel N, Bouchet C, Burlet P, et al.

Segregation of mtDNA mutations during embryo-fetal life: implications for genetic counselling

American society of Human Genetics 2807

 

145.  

Cusin V, Clermont O, Burlet P, et al.                                                                                                                                            

Genotype –phenotype correlationand founder effect in SMA linked to 5q13 without homozygous deletion of SMN1

European journal of European Genetic P632

 

 

 

2005

 

 

 

 

146.  

Steffann J, Frydman N, Gigarel N,Burlet P, et al.

Preimplantation genetic diagnosis of the NARP mitochondrial DNA mutation

Myologie 2005 : 649

 

147. 

J Steffann, N Gigarel, N Frydman, Burlet P, et al.

preimplantation diagnosis of the NARP mitochondrial DNA mutation

PGDIS, London 2004 -o26

 

148.  

Burlet P, et al.

Preimplantation genetic diagnosis for tuberous sclerosis

American society of Human Genetics 2277

 

149.  

Steffann J, Frydman N, Gigarel N, Gesny R, Bonnefont J-P,Tachdjian G, Kerbrat V, Feyereisen E, Frydman R, Munnich A, and Burlet P

Development of an improved PGD test for Fragile X syndrome and clinical application

American society of Human Genetics 2278

 

150.  

Gigarel N, Ray PF, Burlet P, et al.

Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCR.

Mol Genet Metab. 2005 Mar;84(3):289-92.

 

151.  

Steffann J, Frydman N, Burlet P, et al.

Extending preimplantation genetic diagnosis to HLA typing: the Paris experience.

Gynecol Obstet Fertil. 2005 Oct;33(10):824-7.

 

152.  

Burlet P, et al.

Improved single-cell protocol for preimplantation genetic diagnosis of spinal muscular atrophy.

Fertil Steril. 2005 Sep;84(3):734-9

 

153. .

Lefebvre S, Burlet P, et al.

Upregulation of the SMN protein in SMA patients cells

Myologie 2005 : 435

 

 

2006

 

 

 

 

 

154.  

Tachdjian G, Frydman N, Steffann J, Lelorch M, Burlet P, et al.

actualités sur le diagnostic préimplantatoire

médecine Reproduction 2006 mai 8(3): 201-208  

 

155. 

Feyereisen E, Romana S, Kerbrat V, Steffann J, Gigarel N, Lelorc'h M, Burlet P, et al.

Preimplantation genetic diagnosis (PGD): results from a Parisian center

J Gynecol Obstet Biol Reprod (Paris). 2006 Jun;35(4):356-72                                                                  

 

156. 

Burlet P, et al.

Multiple displacement amplification improves PGD for fragile X syndrome.

Mol Hum Reprod. 2006 Oct;12(10):647-52.

 

157. 

Burlet P, et al.

Application de la méthode d’amplification par déplacement multiple au diagnostic préimplantatoire du syndrome de l’X-Fragile

Médecine – Science 2006 427

 

158. 

Gigarel N, Frydman N, Burlet P, et al.

Optimisation du diagnostic préimplantatoire de dystrophie myotonique de Steinert : stratégies diagnostiques et conséquences.

Médecine – Science 2006 1101

 

 

159. 

Burlet P , et al.

Development of an improved PGD test for Fragile X syndrome and clinical application

Human Reproduction 21 : o-105

 

160.  

Steffann J, Frydman N, Gigarel N, Burlet P, et al.

Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis.

J Med Genet. 2006 Mar;43(3):244-7.

 

 

 

 

2007

 

 

 

 

 

 

 

161.  

Steffann J, Gigarel N, Frydman N, Burlet P, et al.

Preimplantation diagnosis for mitochondrial DNA disorders: contribution to understanding mitochondrial DNA segregation during human early embryonic development

American society of Human Genetics 196

 

162.  

Gigarel N, Frydman N, Burlet P, et al.

Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease

European society of Human Genetics 15 : po 431

 

163.  

Steffann J, Frydman N, Burlet P, et al.

Le diagnostic préimplantatoire couplé au typage HLA

Séminaire Pierre Royer

 

 

 

2008

 

 

 

 

 

164. 

Gigarel N, Frydman N, Burlet P, et al.

Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease.

Reprod Biomed Online. 2008 Jan;16(1):152-8.

 

165.  

Gigarel N, Frydman N, Burlet P, et al.

Diagnostic Préimplantatoire de la Polykystose Rénale Récessive Autosomique

Assises de génétique 24 : P141 ;67

 

166. 

Steffann J, Gigarel N, Frydman N, Burlet P, et al.

Diagnostic anténatal des maladies par mutation de l’ADNmt : DPN ou DPI ?

Assises de génétique 24 : 579

 

167. 

Gigarel N, Burlet P

Le diagnostic préimplantatoire

ANTAB ; Vème journée professionnelle

 

168. 

Steffann J, Gigarel N, Burlet P, et al.

PGD for mitochondrial disorders.

Reproductive BioMedicine Online Vol. 16 Sup.3, P.s30

 

169.  

Gigarel N, Burlet P, et al.

PGD is a valuable reproductive option for couples at risk of transmitting autosomal dominant disorders with high clinical variability

Reproductive BioMedicine Online Vol. 16 Sup.3, P. s49-s50

 

170.  

Cabry C, Frydman N, Burlet P, et al.

DPI avec recherche de compatibilté tissulaire

Reproduction humaine et Hormones 21 : P81

 

 

 

2009

 

 

 

 

171.  

Renvoisé B, Colasse S, Burlet P, et al.

The loss of the snoRNP chaperone Nopp140 from Cajal bodies of patient fibroblasts correlates with the severity of spinal muscular atrophy. 

Hum Mol Genet. 2009 Apr 1;18(7):1181-9.

 

172.  

Monnot S, Gigarel N, Burlet P, et al.

NARP and MELAS mutations differentially impact mitochondrial DNA segregation throughout human embryofetal development

American society of Human Genetics 2009

 

173.  

Monnot S, Gigarel N, Hesters L, Burlet P, et al.

The challenge of prenatal and preimplantation genetic diagnosis of mitochondrial DNA disorders

European journal of Human Genetics 17 : C07.4

 

 

 

 

 

2010

 

 

 

174.  

S. Monnot, N. Gigarel, N. Frydman, Burlet P, et al.

Effet des mutations NARP et MELAS sur la ségrégation de l’ADN mitochondrial au cours du développement embryo-foetal humain

Assises de génétique 2010

 

175.  

Burlet P, et al.

Le diagnostic préimplantatoire couplé au typage HLA : l’expérience française

Assises de génétique 2010

 

176.  

Gigarel, N, Hesters L, Monnot S, Burlet P et al.

Etude du premier globule polaire dans le diagnostic préimplantatoire des mutations de l’ADN mitochondrial

Assises de génétique 2010

 

 

177.  

Gigarel N, Hesters L, Monnot S, Burlet P et al.

Pitfalls of preimplantation genetic diagnosis for mitochondrial DNA mutations by using polar body analysis

Reproductive BioMedicine Online Vol. 20 Sup 1, PS33

 

178.  

Monnot, N. Gigarel, D. C. Samuels, P. Burlet et al.

Impact of mtDNA mutations on mtDNA segregation throughout human oogenesis

American society of Human Genetics 2010 : 229 

 

179.  

Burlet P et al.

Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy.

European journal of Human Genetics. Apr 2010; 18 : 505-508

 

 

 

2011

 

 

 

 

    

 

180.  

Monnot S, Gigarel N, Samuels DC, Burlet P et al.

Segregation of mtDNA throughout human embryofetal development : m.3243A>G as a model system

Human Mutation. 2011 Jan;32(1):116-25.

 

181.  

Gigarel N, Hesters L, Samuels DC, Monnot S, Burlet P, et al

Poor Correlations in the Levels of Pathogenic Mitochondrial DNA Mutations in Polar Bodies versus Oocytes and Blastomeres in Humans.

Am J Hum Genet. 2011 Apr 8;88(4):494-8.

 

182.  

Lamazou F, Steffann J, Frydman N, Burlet P, et al

Preimplantation diagnosis with hla typing : birth of the first double hope child in france

Journal de Gynécologie Obstétrique et Biologie de la Reproduction.2011 Nov;40(7):682-6.

 

183.  

Steffann J, Monnot S, Gigarel N, Vachin P, Wong J, Burlet P, et al

The challenge of preconceptional, preimplantation, and prenatal genetic diagnoses of mitochondrial DNA disorders

Euromit 2011

 

184.  

Monnot S, Gigarel N., Samuels D. C., Burlet P. et al.

Impact of mtDNA mutations on mtDNA segregation throughout human oogenesis

European society of Human Genetics 2011 : C07.1

 

185.  

PGD: The biopsy of a single blastomere induces loss of diagnosis efficiency

Human Reproduction

 

186.  

Burlet P, et al.

Le diagnostic préimplantatoire couplé au typage HLA 

ATC

 

187.  

Burlet P, et al.

Preimplantation genetic diagnosis (PGD) test for Hirschsprung disease

Reproductive BioMedicine Online Vol. 20 Sup 1, PS33

 

188.  

Steffann J, Frydman N, Burlet P, et al

Le diagnostic pré-implantatoire couplé au typage HLA : l’expérience française

Bull. Acad. Natle Méd., 2011, 195, nos 4 et 5, 1015-1022,

 

 

189.  

Frydman R, Frydman N, Steffann J, Lamazou F, Fanchin R, Burlet P, et al

Diagnostic pré-implantatoire : dix ans d’expérience en région parisienne : impasse actuelle et solutions à venir.

Bull. Acad. Natle Méd., 2011, 195, nos 4 et 5, 1005-1014,

 

 


 

 

2012

 

 

 

 

 

 

 

190.     

 

S Monnot, D Samuels, N Gigarel, Burlet P, et al. 

 

Impact des mutations m.3243A>G et m.8344A>G sur la ségrégation et la réplication de l’ADN mitochondrial au cours de l’ovogenèse et de l’embryogenèse humaine

 

Assises de génétique 2012

 

 

191. 

 

Renvoisé,  B, Querol G, Verrier E, Burlet P. et al.

 

A role for protein phosphatase PP1γ in SMN complex formation and subnuclear localization to Cajal bodies.

 

J Cell Sci. 2012 Mar 27.

 

 

 

 

 

192.

 

J. Steffann, S. Monnot, N. Gigarel, P. Vachin, E. Herzog, P. Burlet, et al.

 

The challenge of preconceptional,preimplantation, and prenatal genetic diagnoses of mitochondrial DNA disorders.

 

American society of Human Genetics 2012 : 12; P79

 

 

 

 

 

 

 

2013

 

 

 

 

 

 

 

 

 

193.

 

Monnot S, Samuels DC, Hesters L, Frydman N, Gigarel N, Burlet P et al.

 

Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.

 

Hum Mol Genet. 2013 May 1;22(9):1867-72.

 

 

 

 

 

193.

 

Sophie Monnot, Nadine Gigarel, Pauline Vachin, Elodie Herzog, Philippe Burlet, et al.

 

The challenge of preconceptional, preimplantation, and prenatal genetic diagnoses of mitochondrial DNA disorders

 

ESHG - C03.5

 

 

 

 

 

2014

 

 

 

 

 

 

 

 

 

 

 

195.

 

 

 

J Steffann, N Gigarel,S Monnot,P Vachin, E Herzog, Burlet P, et al.

 

Challenges et succes du diagnostic préconceptionel, preimplantatoire et prénatal des mutations de l'ADN mitochondrial
Assises de génétique 2014

 

 

 

 

 

196.

 

 

 

Burlet P, et al.

 

Le DPI avec typage HLA : une procédure lourde pour de faibles chances de succeès

 

Assises de génétique 2014

 

 

 

 

 

 

 

197.

 

 

 

J Steffann, N Gigarel Samuels DC, S Monnot,P, Borghese R, Hesters L, Frydman N, Burlet P, et al.

 

Data from artificial models of mitochondrial DNA disorders are not always applicable to humans

 

Cell reports 2014 May 22;7(4):933-4.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

2016

 

 

 

 

 

 

 

 

 

198.

 

 

 

Le diagnostic préimplantatoire appliqué aux maladies génétiques hématologiques avec ou sans typage tissulaire dans le contexte législatif français J. Steffann, S. Monnot, N. Brahimi, P. Burlet, ... N. Frydman

 

Revue d'Oncologie Hématologie Pédiatrique vol 4 (1) Pages 65–70

 

 

 

 

 

 

 

 

 

2017

 

 

 

 

 

 

 

 

 

199.

 

 

 

Amira Sallem, Anne-Lyse Denisot, Jean-Michel Lapierre, Philippe Burlet, et al.

 

Reducing human oocyte aneuploidy rate for assisted reproductive technologies

 

EMBO Conference on Meiosis 2017

 

 

 

200.