Anatomie comparée du cerveau. /

Por Manouvrier, L.
Publicado em 1927

La clinique sexologique — une clinique de médecine familiale

Por Manouvrier, Frans
Publicado em 1974

Proposal for a Specific Aerobic Test for Football Players: The “Footeval”

Por Manouvrier, Christophe, Cassirame, Johan, Ahmaidi, Saïd
Publicado no J Sports Sci Med (2016)

Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25.

Por Raas-Rothschild, A, Manouvrier, S, Gonzales, M, Farriaux, J P, Lyonnet, S, Munnich, A
Publicado em 1996

Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.

Por Vincent, M C, Guiraud-Chaumeil, C, Laporte, J, Manouvrier-Hanu, S, Mandel, J L
Publicado em 1998

Right superior vena cava draining into the left atrium with left superior vena cava draining into the right atrium.

Por Leys, D, Manouvrier, J, Dupard, T, Kassiotis, P, Rey, C, Marache, P, Ducloux, G, Petit, H
Publicado em 1986

Homozygosity for a null allele of COL3A1 results in recessive Ehlers–Danlos syndrome

Por Plancke, Aurélie, Holder-Espinasse, Muriel, Rigau, Valérie, Manouvrier, Sylvie, Claustres, Mireille, Van Kien, Philippe Khau
Publicado em 2009

Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome

Por Manouvrier-Hanu, S, Amiel, J, Jacquot, S, Merienne, K, Moerman, A, Coeslier, A, Labarriere, F, Vallee, L, Croquette, M, Hanauer, A
Publicado em 1999

Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10

Por Pingault, Veronique, Pierre-Louis, Laurence, Chaoui, Asma, Verloes, Alain, Sarrazin, Elisabeth, Brandberg, Goran, Bondurand, Nadege, Uldall, Peter, Manouvrier-Hanu, Sylvie
Publicado no Am J Med Genet A (2014)

Myhre syndrome: new reports, review, and differential diagnosis

Por Burglen, L, Heron, D, Moerman, A, Dieux-Coeslier, A, Bourguignon, J, Bachy, A, Carel, J, Cormier-Daire, V, Manouvrier, S, Verloes, A
Publicado em 2003

Sex reversal and diaphragmatic hernia in phenotypically female sibs with normal XY chromosomes

Por MANOUVRIER-HANU, S, BESSON, R, COUSIN, L, JEANPIERRE, C, KACET, N, CARTIGNY, M, DEVISME, L, STORME, L, DE MARTINVILLE, B, LEQUIEN, P
Publicado em 2000

Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness.

Por Manouvrier, S, Rötig, A, Hannebique, G, Gheerbrandt, J D, Royer-Legrain, G, Munnich, A, Parent, M, Grünfeld, J P, Largilliere, C, Lombes, A
Publicado em 1995

Screening of MAMLD1 Mutations in 70 Children with 46,XY DSD: Identification and Functional Analysis of Two New Mutations

Por Kalfa, Nicolas, Fukami, Maki, Philibert, Pascal, Audran, Francoise, Pienkowski, Catherine, Weill, Jacques, Pinto, Graziella, Manouvrier, Sylvie, Polak, Michel, Ogata, Totsumo, Sultan, Charles
Publicado em 2012

The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis

Por Petit, Florence, Jourdain, Anne-Sophie, Holder-Espinasse, Muriel, Keren, Boris, Andrieux, Joris, Duterque-Coquillaud, Martine, Porchet, Nicole, Manouvrier-Hanu, Sylvie, Escande, Fabienne
Publicado no Eur J Hum Genet (2016)

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus

Por Ghoumid, Jamal, Andrieux, Joris, Sablonnière, Bernard, Odent, Sylvie, Philippe, Nathalie, Zanlonghi, Xavier, Saugier-Veber, Pascale, Bardyn, Thomas, Manouvrier-Hanu, Sylvie, Holder-Espinasse, Muriel
Publicado em 2011

Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder

Por Ghoumid, Jamal, Petit, Florence, Boute-Benejean, Odile, Frenois, Frédéric, Cartigny, Maryse, Vanlerberghe, Clémence, Smol, Thomas, Caumes, Roseline, de ROUX, Nicolas, Manouvrier-Hanu, Sylvie
Publicado no Eur J Hum Genet (2017)

Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations

Por Holder-Espinasse, M, Escande, F, Mayrargue, E, Dieux-Coeslier, A, Fron, D, Doual-Bisser, A, Boute-Benejean, O, Robert, Y, Porchet, N, Manouvrier-Hanu, S
Publicado em 2004

Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity

Por Ghoumid, Jamal, Petit, Florence, Holder-Espinasse, Muriel, Jourdain, Anne-Sophie, Guerra, José, Dieux-Coeslier, Anne, Figeac, Martin, Porchet, Nicole, Manouvrier-Hanu, Sylvie, Escande, Fabienne
Publicado no Eur J Hum Genet (2016)

Genotype–phenotype correlation of 30 patients with Smith‐Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletion...

Por Andrieux, J, Villenet, C, Quief, S, Lignon, S, Geffroy, S, Roumier, C, de Leersnyder, H, de Blois, M‐C, Manouvrier, S, Delobel, B, Benzacken, B, Bitoun, P, Attie‐Bitach, T, Thomas, S, Lyonnet, S, Vekemans, M, Kerckaert, J‐P
Publicado em 2007

Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH

Por Andrieux, Joris, Dubourg, Christèle, Rio, Marlène, Attie-Bitach, Tania, Delaby, Elsa, Mathieu, Michèle, Journel, Hubert, Copin, Henri, Blondeel, Eléonore, Doco-Fenzy, Martine, Landais, Emilie, Delobel, Bruno, Odent, Sylvie, Manouvrier-Hanu, Sylvie, Holder-Espinasse, Muriel
Publicado em 2009