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Results: 1-25/34
Authors:
Tredano, M
de Blic, J
Griese, M
Fournet, JC
Elion, J
Bahuau, M
Citation: M. Tredano et al., Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism, CLIN CH L M, 39(2), 2001, pp. 90-108
Authors:
Duriez, P
Clermont, O
Bonacorsi, S
Bingen, E
Chaventre, A
Elion, J
Picard, B
Denamur, E
Citation: P. Duriez et al., Commensal Escherichia coli isolates are phylogenetically distributed amonggeographically distinct human populations, MICROBI-SGM, 147, 2001, pp. 1671-1676
Authors:
Benoist, JF
Acquaviva, C
Callebaut, I
Guffon, N
de Baulny, HO
Mornon, JP
Porquet, D
Elion, J
Citation: Jf. Benoist et al., Molecular and structural analysis of two novel mutations in a patient withMut(-) methylmalanyl-CoA deficiency, MOL GEN MET, 72(2), 2001, pp. 181-184
Authors:
Acquaviva, C
Benoist, JF
Callebaut, I
Guffon, N
de Baulny, HO
Touati, G
Aydin, A
Porquet, D
Elion, J
Citation: C. Acquaviva et al., N219Y, a new frequent mutation among mut degrees forms of methylmalonic acidemia in Caucasian patients, EUR J HUM G, 9(8), 2001, pp. 577-582
Authors:
Ducrocq, R
Pascaud, O
Bevier, A
Finet, C
Benkerrou, M
Elion, J
Citation: R. Ducrocq et al., Strategy linking several analytical methods of neonatal screening for sickle cell disease, J MED SCREE, 8(1), 2001, pp. 8-14
Authors:
Mercier, JC
Bingen, E
Schlegel, N
Elion, J
Casanova, JL
Mira, JP
Beaufils, F
Citation: Jc. Mercier et al., Severe meningococcal shock with purpura fulminans: untoward result of genetic polymorphisms?, ARCH PED, 8(8), 2001, pp. 843-852
Authors:
Ducrocq, R
Benkerrou, M
Brahimi, L
Belloy, M
Briard, ML
Vilmer, E
Elion, J
Citation: R. Ducrocq et al., Neonatal screening for sickle cell disease: evaluation of a five-year experience in the northern part of the Paris area., ARCH PED, 8(5), 2001, pp. 474-480
Authors:
Zago, MA
Silva, WA
Gualandro, S
Yokomizu, IK
Araujo, AG
Tavela, MH
Gerard, N
Krishnamoorthy, R
Elion, J
Citation: Ma. Zago et al., Rearrangements of the beta-globin gene cluster in apparently typical beta(s) haplotypes, HAEMATOLOG, 86(2), 2001, pp. 142-145
Authors:
Zertal-Zidani, S
Ducrocq, R
Weil-Olivier, C
Elion, J
Krishnamoorthy, R
Citation: S. Zertal-zidani et al., A novel delta beta fusion gene expresses hemoglobin A (HbA) not Hb Lepore:Senegalese delta(0)beta(+) thalassemia, BLOOD, 98(4), 2001, pp. 1261-1263
Authors:
Gerard, B
Ginet, N
Matthijs, G
Evrard, P
Baumann, C
Da Silva, F
Gerard-Blanluet, M
Mayer, M
Grandchamp, B
Elion, J
Citation: B. Gerard et al., Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension, HUM MUTAT, 16(3), 2000, pp. 253-263
Authors:
Tredano, M
Cneude, F
Denamur, E
Truffert, P
Capron, F
Manouvrier, S
Feldmann, D
Couderc, R
Elion, J
Lacaze-Masmonteil, T
Citation: M. Tredano et al., Clinical presentation, immunohistologic features, molecular confirmation, and prenatal diagnosis of surfactant protein B (SP-B) deficiency., ARCH PED, 7(6), 2000, pp. 641-644
Authors:
Bardakjian, J
Benkerrou, M
Bernaudin, F
Briard, ML
Ducrocq, R
Lambilliotte, A
Lena-Russo, D
de Montalembert, M
Thuret, I
Begue, P
Elion, J
Galacteros, F
Citation: J. Bardakjian et al., Neonatal screening of sickle cell disease in metropolitan France, ARCH PED, 7(12), 2000, pp. 1261-1263
Authors:
Neonato, MG
Guilloud-Bataille, M
Beauvais, P
Begue, P
Belloy, M
Benkerrou, M
Ducrocq, R
Maier-Redelsperger, M
de Montalembert, M
Quinet, B
Elion, J
Feingold, J
Girot, R
Citation: Mg. Neonato et al., Acute clinical events in 299 homozygous sickle cell patients living in France, EUR J HAEMA, 65(3), 2000, pp. 155-164
Authors:
Aguilar-Martinez, P
Schved, JF
Badens, C
Thuret, I
Michel, G
Neonato, MG
Peltier, JY
Girot, R
Pissard, S
Galacteros, F
Bachir, D
Rose, C
Picot, MC
Denamur, E
Elion, J
Citation: P. Aguilar-martinez et al., Iron overload in thalassaemias and genetic haemochromatosis, EUR J HAEMA, 64(4), 2000, pp. 279-280
Authors:
Bonacorsi, SPP
Clermont, O
Tinsley, C
Le Gall, I
Beaudoin, JC
Elion, J
Nassif, X
Bingen, E
Citation: Spp. Bonacorsi et al., Representational Difference Analysis used to identify specific genomic regions in Escherichia coli strains responsible for neonatal meningitis., MED MAL INF, 30(4), 2000, pp. 217-224
Authors:
Zago, MA
Silva, WA
Dalle, B
Gualandro, S
Hutz, MH
Lapoumeroulie, C
Tavella, MH
Araujo, AG
Krieger, JE
Elion, J
Krishnamoorthy, R
Citation: Ma. Zago et al., Atypical beta(S) haplotypes are generated by diverse genetic mechanisms, AM J HEMAT, 63(2), 2000, pp. 79-84
Authors:
Attie-Castro, FA
Zago, MA
Lavinha, J
Elion, J
Rodriguez-Delfin, L
Guerreiro, JF
Franco, RF
Citation: Fa. Attie-castro et al., Ethnic heterogeneity of the factor XIII Val34Leu polymorphism, THROMB HAEM, 84(4), 2000, pp. 601-603
Authors:
Denamur, E
Lecointre, G
Darlu, P
Tenaillon, O
Acquaviva, C
Sayada, C
Sunjevaric, I
Rothstein, R
Elion, J
Taddei, F
Radman, M
Matic, I
Citation: E. Denamur et al., Evolutionary implications of the frequent horizontal transfer of mismatch repair genes, CELL, 103(5), 2000, pp. 711-721
Authors:
Denamur, E
Bocquet, N
Baudouin, V
Da Silva, F
Veitia, R
Peuchmaur, M
Elion, J
Gubler, MC
Fellous, M
Niaudet, P
Loirat, C
Citation: E. Denamur et al., WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis, KIDNEY INT, 57(5), 2000, pp. 1868-1872
Authors:
Bonacorsi, SPP
Clermont, O
Tinsley, C
Le Gall, I
Beaudoin, JC
Elion, J
Nassif, X
Bingen, E
Citation: Spp. Bonacorsi et al., Identification of regions of the Escherichia coli chromosome specific for neonatal meningitis-associated strains, INFEC IMMUN, 68(4), 2000, pp. 2096-2101
Authors:
Denamur, E
Elion, J
Picard, B
Citation: E. Denamur et al., Clonal origin, virulence factors, and virulence - Reply, INFEC IMMUN, 68(1), 2000, pp. 425-425
Authors:
Franco, RF
Elion, J
Santos, SEB
Araujo, AG
Tavella, MH
Zago, MA
Citation: Rf. Franco et al., Heterogeneous ethnic distribution of the factor V Leiden mutation, GENET MOL B, 22(2), 1999, pp. 143-145
Authors:
Tredano, M
van Elburg, RM
Kaspers, AG
Zimmermann, LJ
Houdayer, C
Aymard, P
Hull, WM
Whitsett, JA
Elion, J
Griese, M
Bahuau, M
Citation: M. Tredano et al., Compound SFTPB 1549C -> GAA (121ins2) and 457delC heterozygosity in severecongenital lung disease and surfactant protein B (SP-B) deficiency, HUM MUTAT, 14(6), 1999, pp. 502-509
Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases
Authors:
Denamur, E
Bocquet, N
Mougenot, B
Da Silva, F
Martinat, L
Loirat, C
Elion, J
Bensman, A
Ronco, PM
Citation: E. Denamur et al., Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases, J AM S NEPH, 10(10), 1999, pp. 2219-2223
Authors:
Neonato, MG
Lu, CY
Guilloud-Bataille, M
Lapoumeroulie, C
Nabeel-Jassim, H
Dabit, D
Girot, R
Krishnamoorthy, R
Feingold, J
Besmond, C
Elion, J
Citation: Mg. Neonato et al., Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: identification of three new variant alleles and relationship to infections, EUR J HUM G, 7(6), 1999, pp. 679-686