Search Results - "Blanluet, M"

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features? by 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

“…Genome-wide screening of patients with mental retardation using array comparative genomic hybridisation (CGH) has identified several novel imbalances. With…”
Get more information

Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature by 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.

“…Objective Prenatal Binder profile is a well known clinical phenotype, defined by a flat profile without nasal eminence, contrasting with nasal bones of normal…”
Get full text

Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever by Tchernitchko, D O, Gérard-Blanluet, M, Legendre, M, Cazeneuve, C, Grateau, G, Amselem, S

“…Background: Familial Mediterranean fever (FMF) is the most frequent of the recurrent inherited fevers. This autosomal recessive disorder is characterised by…”
Get full text

Binder phenotype in mothers affected with autoimmune disorders by 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.

“…Objective: To report four foetal cases of the Binder phenotype associated with maternal autoimmune disorders. Patients and Methods: In three mothers with…”
Get full text

Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension by Gérard, B., Ginet, N., Matthijs, G., Evrard, P., Baumann, C., Da Silva, F., Gérard-Blanluet, M., Mayer, M., Grandchamp, B., Elion, J.

“…Precise quantitation of SMN1 copy number is of great interest in many clinical applications such as direct detection of SMA carriers or detection of an…”
Get full text

Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images by Sinico, M., Levaillant, J. M., Vergnaud, A., Blondeau, J. R., Encha-Razavi, F., Mornet, E., Le Merrer, M., Gerard-Blanluet, M.

“…Background Hypophosphatasia is an osseous dysplasia with highly variable clinical expression, ranging from a recessive lethal prenatal type to late onset…”
Get full text

Prenatal forehead edema in 4p- deletion: the 'Greek warrior helmet' profile revisited by Levaillant, J. M., Touboul, C., Sinico, M., Vergnaud, A., Serero, S., Druart, L., Blondeau, J. R., Abd Alsamad, I., Haddad, B., Gérard-Blanluet, M.

“…Objectives Deletion of short arm of chromosome 4 is difficult to ascertain prenatally, and can be missed. Methods A prenatal suspicion of 4p‐ syndrome was…”
Get full text

Prenatal detection of Pierre Robin sequence with deletion Xp and additional trisomy 14q by telomere screening by Gerard-Blanluet, M., Pipiras, E., Levaillant, J. M., Joye, N., Koubi, V., Kanafani, S., Vergnaud, A., Verloes, A., Gonzales, M., Jeny, R., Benzacken, B.

Get full text

Early development of occipital horns in a classical Menkes patient by Gérard-Blanluet, M., Birk-Møller, L., Horn, N., Caubel, I., Gélot, A., Billette de Villemeur, T.

Get full text

P03.38: Prenatal forehead edema in 4p‐ deletion, the “Greek warrior helmet” profile revisited by Levaillant, J. M., Gérard‐Blanluet, M., Sinico, M.

Get full text

De novo subtelomeric deletion additional to an inherited apparently balanced reciprocal translocation by 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

“…We describe the analysis of an apparently balanced inherited reciprocal translocation in a fetus presenting with multiple congenital abnormalities,…”
Get more information

P03.35: Tri‐dimensional ultrasonography suggestive of Costello syndrome, with identified PTPN11 mutation by Levaillant, J.‐M., Gérard‐Blanluet, M., Manouvrier‐Hanu, S.

Get full text

Early development of occipital horns in a classical Menkes patient (Am J Med Genet 130A: 211-213) by Gérard-Blanluet, M., Birk-Møller, L., Horn, N., Caubel, I., Gélot, A., Billette de Villemeur, T.

Get full text

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes by Garcia-Pelaez, José, Barbosa-Matos, Rita, Lobo, Silvana, Dias, Alexandre, Garrido, Luzia, Castedo, Sérgio, Sousa, Sónia, Pinheiro, Hugo, Sousa, Liliana, Monteiro, Rita, Maqueda, Joaquin J, Fernandes, Susana, Carneiro, Fátima, Pinto, Nádia, Lemos, Carolina, Pinto, Carla, Teixeira, Manuel R, Aretz, Stefan, Bajalica-Lagercrantz, Svetlana, Balmaña, Judith, Blatnik, Ana, Benusiglio, Patrick R, Blanluet, Maud, Bours, Vincent, Brems, Hilde, Brunet, Joan, Calistri, Daniele, Capellá, Gabriel, Carrera, Sergio, Colas, Chrystelle, Dahan, Karin, de Putter, Robin, Desseignés, Camille, Domínguez-Garrido, Elena, Egas, Conceição, Evans, D Gareth, Feret, Damien, Fewings, Eleanor, Fitzgerald, Rebecca C, Coulet, Florence, Garcia-Barcina, María, Genuardi, Maurizio, Golmard, Lisa, Hackmann, Karl, Hanson, Helen, Holinski-Feder, Elke, Hüneburg, Robert, Krajc, Mateja, Lagerstedt-Robinson, Kristina, Lázaro, Conxi, Ligtenberg, Marjolijn J L, Martínez-Bouzas, Cristina, Merino, Sonia, Michils, Geneviève, Novaković, Srdjan, Patiño-García, Ana, Ranzani, Guglielmina Nadia, Schröck, Evelin, Silva, Inês, Silveira, Catarina, Soto, José L, Spier, Isabel, Steinke-Lange, Verena, Tedaldi, Gianluca, Tejada, María-Isabel, Woodward, Emma R, Tischkowitz, Marc, Hoogerbrugge, Nicoline, Oliveira, Carla

“…Truncating pathogenic or likely pathogenic variants of CDH1 cause hereditary diffuse gastric cancer (HDGC), a tumour risk syndrome that predisposes carrier…”
Get full text

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes by Garcia-Pelaez, J, Barbosa-Matos, R, Lobo, S, Dias, A, Garrido, L, Castedo, S, Sousa, SP, Pinheiro, H, Sousa, L, Monteiro, AR, Maqueda, J, Fernandes, S, Carneiro, F, Pinto, N, Lemos, C, Pinto, C, Teixeira, M, Aretz, S, Lagercrantz, SB, Balmana, J, Blatnik, A, Benusiglio, P, Blanluet, M, Bours, V, Brems, H, Brunet, J, Calistri, D, Capella, G, Revilla, SC, Colas, C, Dahan, K, de Putter, R, Desseignes, C, Dominguez-Garrido, E, Egas, C, Evans, G, Feret, D, Fewings, E, Fitzgerald, R, Coulet, F, Garcia-Barcina, M, Genuardi, M, Lisa, G, Hackmann, K, Hanson, H, Holinski-Feder, E, Huneburg, R, Krajc, M, Lagerstedt-Robinson, K, Lazaro, C, Ligtenberg, M, Bouzas, MCM, Merino, S, Michils, G, Novakovic, S, Patino, A, Ranzani, G, Schrock, E, Silva, I, Silveira, C, Soto, JL, Spier, I, Steinke-Lange, V, Tedaldi, G, Tejada, I, Woodward, E, Tischkowitz, M, Hoogerbrugge, N, Oliveira, C

Get full text

ARID1B-related disorder in 87 adults: Natural history and self-sustainability by van der Sluijs, P.J., Gösgens, M., Dingemans, A.J.M., Striano, P., Riva, A., Mignot, C., Faudet, A., Vasileiou, G., Walther, M., Schrier Vergano, S.A., Alders, M., Alkuraya, F.S., Alorainy, I., Alsaif, H.S., Anderlid, B., Bache, I., van Beek, I., Blanluet, M., van Bon, B.W., Brunet, T., Brunner, H., Carriero, M.L., Charles, P., Chatron, N., Coccia, E., Dubourg, C., Earl, R.K., Eichler, E.E., Faivre, L., Foulds, N., Graziano, C., Guerrot, A.M., Hashem, M.O., Heide, S., Heron, D., Hickey, S.E., Hopman, S.M.J., Kattentidt-Mouravieva, A., Kerkhof, J., Klein Wassink-Ruiter, J.S., Kurtz-Nelson, E.C., Kušíková, K., Kvarnung, M., Lecoquierre, F., Leszinski, G.S., Loberti, L., Magoulas, P.L., Mari, F., Maystadt, I., Merla, G., Milunsky, J.M., Moortgat, S., Nicolas, G., Leary, M.O.’, Odent, S., Ozmore, J.R., Parbhoo, K., Pfundt, R., Piccione, M., Pinto, A.M., Popp, B., Putoux, A., Rehm, H.L., Reis, A., Renieri, A., Rosenfeld, J.A., Rossi, M., Salzano, E., Saugier-Veber, P., Seri, M., Severi, G., Sonmez, F.M., Strobl-Wildemann, G., Stuurman, K.E., Uctepe, E., Van Esch, H., Vitetta, G., de Vries, B.B.A., Wahl, D., Wang, T., Zacher, P., Heitink, K.R., Ropers, F.G., Steenbeek, D., Rybak, T., Santen, G.W.E.

“…ARID1B is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with ARID1B-related disorder have been…”
Get full text

GENOTYPE-PHENOTYPE ASSOCIATIONS PROVIDE A RATIONAL TO IDENTIFY POTENTIALLY ACTIONABLE VUS by Pelaez, J, Monteiro, R, Lobo, S, Sousa, L, Pinheiro, H, Castedo, S, Garrido, L, Teixeira, M, Michils, G, Bours, V, de Putter, R, Golmard, L, Blanluet, M, Colas, C, Benusiglio, P, Desseignes, C, Florence, C, Aretz, S, Spier, I, Huneburg, R, Gieldon, L, Schrock, E, Holinski-Feder, E, Steinke, V, Calistri, D, Tedaldi, G, Ranzani, G, Genuardi, M, Silveira, C, Silva, I, Krajc, M, Blatnik, A, Novacovik, S, Patino-Garcia, A, Soto, JL, Lazaro, C, Capella, G, Brunet-Vidal, J, Balmana, J, Dominguez-Garrido, E, Ligtenberg, M, Fewings, E, Fitzgerald, R, Woodward, E, Evans, G, Hanson, H, Lagerstedt-Robinson, K, Bajalica-Lagercrantz, S, Egas, C, Tejada, MI, Dahan, K, Feret, D, Hoogerbrugge, N, Tischkowitz, M, Oliveira, C

Get full text

The first genotype-phenotype study on European carriers of CDH1 germline mutations by Garcia-Pelaez, J, Monteiro, R, Sousa, L, Pinheiro, H, Castedo, S, Garrido, L, Teixeira, M, Michils, G, Bours, V, de Putter, R, Golmard, L, Blanluet, M, Colas, C, Benusiglio, P, Aretz, S, Spier, I, Huneburg, R, Gieldon, L, Schrock, E, Holinski-Feder, E, Steinke, V, Calistri, D, Tedaldi, G, Ranzani, G, Genuardi, M, Silveira, C, Silva, I, Krajc, M, Blatnik, A, Novakovic, S, Patino-Garcia, A, Soto, J, Lazaro, C, Capella, G, Brunet-Vidal, J, Balmana, J, Dominguez-Garrido, E, Ligtenberg, M, Fewings, E, Fitzgerald, R, Woodward, E, Evans, G, Hanson, H, Lagerstedt-Robinson, K, Bajalica-Lagercrantz, S, Egas, C, Martinez-Bouzas, C, Dahan, K, Feret, D, Hoogerbrugge, N, Tischkowitz, M, Oliveira, C

Get full text

European Landscape of CDH1 germline mutations: a new tool to understand hereditary diffuse gastric cancer (HDGC) by Pelaez, JG, Monteiro, A, Sousa, L, Castedo, S, Garrido, L, Michils, G, Bours, V, de Putter, R, Golmard, L, Blanluet, M, Colas, C, Benusiglio, P, Aretz, S, Spier, I, Huneburg, R, Gieldon, L, Schrock, E, Holinski-Feder, E, Steinke, V, Calistri, D, Tedaldi, G, Nadia-Ranzani, G, Genuardi, M, Silveira, C, Krajc, M, Blatnik, A, Novakovic, S, Patino-Garcia, A, Soto, J, Lazaro, C, Capella, G, Brunet-Vidal, J, Balmana, J, Dominguez-Garrido, E, Ligtenberg, M, Fewings, E, Fitzgerald, R, Woodward, E, Evans, G, Hanson, H, Lagerstedt-Robinson, K, Bajalica-Lagercrantz, S, Teixeira, M, Hoogerbrugge, N, Tischkowitz, M, Oliveira, C

Get full text

Mosaic trisomy 15 and hemihypertrophy by Gérard-Blanluet, Marion, Elbez, Annie, Bazin, Anne, Danan, Claude, Verloes, Alain, Janaud, Jean-Claude

“…We report a case of mosaic trisomy 15 with mental retardation, facial dysmorphism, and hemihypertrophy, but no manifestations of Prader-Willi or Angelman…”
Get full text