2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?
Jaillard, S, Dubourg, C, Gérard-Blanluet, M, Delahaye, A, Pasquier, L, Dupont, C, Henry, C, Tabet, A-C, Lucas, J, Aboura, A, David, V, Benzacken, B, Odent, S, Pipiras, E
Published in Journal of medical genetics (01.12.2009)
Published in Journal of medical genetics (01.12.2009)
Get full text
Journal Article
Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature
Levaillant, J. M., Moeglin, D., Zouiten, K., Bucourt, M., Burglen, L., Soupre, V., Baumann, C., Jaquemont, M. L., Touraine, R., Picard, A., Vuillard, E., Belarbi, N., Oury, J. F., Verloes, A., Vazquez, M. P., Labrune, P., Delezoide, A. L., Gérard-Blanluet, M.
Published in Prenatal diagnosis (01.02.2009)
Published in Prenatal diagnosis (01.02.2009)
Get full text
Journal Article
Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever
Tchernitchko, D O, Gérard-Blanluet, M, Legendre, M, Cazeneuve, C, Grateau, G, Amselem, S
Published in Annals of the rheumatic diseases (01.09.2006)
Published in Annals of the rheumatic diseases (01.09.2006)
Get full text
Journal Article
Binder phenotype in mothers affected with autoimmune disorders
Colin, E, Touraine, R, Levaillant, J M, Pasquier, L, Boussion, F, Ferry, M, Guichet, A, Barth, M, Mercier, A, Gérard-Blanluet, M, Odent, S, Bonneau, D
Published in The journal of maternal-fetal & neonatal medicine (01.08.2012)
Published in The journal of maternal-fetal & neonatal medicine (01.08.2012)
Get more information
Journal Article
Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension
Gérard, B., Ginet, N., Matthijs, G., Evrard, P., Baumann, C., Da Silva, F., Gérard-Blanluet, M., Mayer, M., Grandchamp, B., Elion, J.
Published in Human mutation (01.09.2000)
Published in Human mutation (01.09.2000)
Get full text
Journal Article
Prenatal forehead edema in 4p- deletion: the 'Greek warrior helmet' profile revisited
Levaillant, J. M., Touboul, C., Sinico, M., Vergnaud, A., Serero, S., Druart, L., Blondeau, J. R., Abd Alsamad, I., Haddad, B., Gérard-Blanluet, M.
Published in Prenatal diagnosis (01.12.2005)
Published in Prenatal diagnosis (01.12.2005)
Get full text
Journal Article
Early development of occipital horns in a classical Menkes patient
Gérard-Blanluet, M., Birk-Møller, L., Horn, N., Caubel, I., Gélot, A., Billette de Villemeur, T.
Published in American journal of medical genetics. Part A (01.10.2004)
Published in American journal of medical genetics. Part A (01.10.2004)
Get full text
Journal Article
De novo Subtelomeric Deletion Additional to an Inherited Apparently Balanced Reciprocal Translocation
Delahaye, A., Pipiras, E., Kanafani, S., Touboul, C., Vergnaud, A., Encha-Razavi, F., Sinico, M., Benkhalifa, M., Kasakyan, S., Serero, S., Wolf, J.P., Gérard-Blanluet, M., Benzacken, B.
Published in Fetal diagnosis and therapy (01.01.2007)
Published in Fetal diagnosis and therapy (01.01.2007)
Get full text
Journal Article
Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images
Sinico, M., Levaillant, J. M., Vergnaud, A., Blondeau, J. R., Encha-Razavi, F., Mornet, E., Le Merrer, M., Gerard-Blanluet, M.
Published in Prenatal diagnosis (01.03.2007)
Published in Prenatal diagnosis (01.03.2007)
Get full text
Journal Article
Prenatal detection of Pierre Robin sequence with deletion Xp and additional trisomy 14q by telomere screening
Gerard-Blanluet, M., Pipiras, E., Levaillant, J. M., Joye, N., Koubi, V., Kanafani, S., Vergnaud, A., Verloes, A., Gonzales, M., Jeny, R., Benzacken, B.
Published in Prenatal diagnosis (01.11.2007)
Published in Prenatal diagnosis (01.11.2007)
Get full text
Journal Article
P03.38: Prenatal forehead edema in 4p‐ deletion, the “Greek warrior helmet” profile revisited
Levaillant, J. M., Gérard‐Blanluet, M., Sinico, M.
Published in Ultrasound in obstetrics & gynecology (01.09.2005)
Published in Ultrasound in obstetrics & gynecology (01.09.2005)
Get full text
Journal Article
Mosaic trisomy 15 and hemihypertrophy
Gérard-Blanluet, Marion, Elbez, Annie, Bazin, Anne, Danan, Claude, Verloes, Alain, Janaud, Jean-Claude
Published in Annales de génétique (01.07.2001)
Published in Annales de génétique (01.07.2001)
Get full text
Journal Article
Cemara : épidémiologie des maladies rares et système d’information
Messdiaen, C., Le Mignot, L., Rath, A., Richard, J.-B., Dufour, E., Ben Saïd, M., Jais, J.-P., Verloes, A., Le Merrer, M., Bodemer, C., Baujat, G., Gérard-Blanluet, M., Bourdon-Lanoy, E., Salomon, R., Aymé, S., Landais, P.
Published in Revue d'épidémiologie et de santé publique (01.04.2008)
Published in Revue d'épidémiologie et de santé publique (01.04.2008)
Get full text
Journal Article
Prenatal phenotypic overlap of Costello syndrome and severe Noonan syndrome by tri-dimensional ultrasonography
Levaillant, Jean-Marc, Gérard-Blanluet, Marion, Holder-Espinasse, Muriel, Valat-Rigot, Anne-Sylvie, Devisme, Louise, Cavé, Hélène, Manouvrier-Hanu, Sylvie
Published in Prenatal diagnosis (01.04.2006)
Published in Prenatal diagnosis (01.04.2006)
Get full text
Journal Article
Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males
Gérard-Blanluet, Marion, Sheen, Volney, Machinis, Kalotina, Neal, Jason, Apse, Kira, Danan, Claude, Sinico, Martine, Brugières, Pierre, Mage, Katia, Ratsimbazafy, Lanto, Elbez, Annie, Janaud, Jean-Claude, Amselem, Serge, Walsh, Christopher, Encha-Razavi, Férechté
Published in American journal of medical genetics. Part A (15.05.2006)
Published in American journal of medical genetics. Part A (15.05.2006)
Get full text
Journal Article
Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins
Brémond‐Gignac, Dominique, Gérard‐Blanluet, Marion, Copin, Henri, Bitoun, Pierre, Baumann, Clarisse, Crolla, J.A., Benzacken, Brigitte, Verloes, Alain
Published in American journal of medical genetics. Part A (01.05.2005)
Published in American journal of medical genetics. Part A (01.05.2005)
Get full text
Journal Article
Classical West “syndrome” phenotype with a subtelomeric 4p trisomy
Gérard‐Blanluet, Marion, Romana, S., Munier, C., Le Lorc'h, M., Kanafani, S., Sinico, M., Touboul, C., Levaillant, J.M., Haddad, B., Lopez, N., Lelong, F., de Villemeur, T. Billette, Verloes, A., Borghi, E.
Published in American journal of medical genetics. Part A (15.10.2004)
Published in American journal of medical genetics. Part A (15.10.2004)
Get full text
Journal Article
Prenatal skin edema mimicking a recurrence of meningo-encephalocele
Blanluet-Gerard, Marion, Patkaï, Juliana, Simon, Isabelle, Levaillant, Jean-Marc, Haddad, Bassam
Published in Prenatal diagnosis (01.02.2003)
Published in Prenatal diagnosis (01.02.2003)
Get full text
Journal Article