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.
Melki J, Sheth P, Abdelhak S, Burlet P et al.
Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14.
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
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
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.
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
1994
Sequeiros J, Silveira I, Maciel P, Coutinho P, Manaia A, Gaspar C, Burlet P et al.
Genetic Linkage studies of Machado-Joseph.
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.
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
Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P et al.
Identification and characterization of a spinal muscular atrophy-determining gene.
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 .
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
Bürglen L, Lefebvre S, Clermont O, Burlet P et al.
Structure and organisation of the human survival motor neurone gene.
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
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.
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.
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.
The small-molecule flunarizine increases SMN protein in nuclear Cajal bodies and motor function in a mouse model of spinal muscular atrophy
submitted