The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
Tchernia, Gil, Tentler, Dimitri, Carlsson, Birgit, Andersson, Björn, Dianzani, Irma, Pettersson, Monica, Ball, Sarah, Draptchinskaia, Natalia, Willig, Thiébaut- Noël, Klar, Joakim, Matsson, Hans, Gustavsson, Peter, Dahl, Niklas, Mohandas, Narla
Published in Nature genetics (01.02.1999)
Published in Nature genetics (01.02.1999)
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Journal Article
Mutations in Ribosomal Protein S19 Gene and Diamond Blackfan Anemia: Wide Variations in Phenotypic Expression
Willig, Thiébaut-Noël, Draptchinskaia, Natalia, Dianzani, Irma, Ball, Sarah, Niemeyer, Charlotte, Ramenghi, Ugo, Orfali, Karen, Gustavsson, Peter, Garelli, Emanuela, Brusco, Alfredo, Tiemann, Christian, Pérignon, Jean Louis, Bouchier, Christiane, Cicchiello, Lawrence, Dahl, Niklas, Mohandas, Narla, Tchernia, Gil
Published in Blood (15.12.1999)
Published in Blood (15.12.1999)
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Journal Article
Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb
Willig, Thiébaut-Noel, Haeringen, Arie van, Veer-Korthof, Lisbeth van't, Tchernia, Gil, Gordon, Laurie, Dianzani, Irma, Renter, Jan-Inge, Donnér, Mikael, Nilsson, Per-Gunnar, Gustavsson, Peter, Dahl, Niklas, Elinder, Göran, Skeppner, Gunnar, Kreuger, Anders
Published in Nature genetics (01.08.1997)
Published in Nature genetics (01.08.1997)
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Journal Article
Nutritional assessment in Duchenne muscular dystrophy
Willig, T N, Carlier, L, Legrand, M, Rivière, H, Navarro, J
Published in Developmental medicine and child neurology (01.12.1993)
Published in Developmental medicine and child neurology (01.12.1993)
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Journal Article
Swallowing problems in neuromuscular disorders
WILLIG, T. N, PAULUS, J, SAINT GUILY, J. L, BEON, C, NAVARRO, J
Published in Archives of physical medicine and rehabilitation (01.11.1994)
Published in Archives of physical medicine and rehabilitation (01.11.1994)
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Journal Article
Long-term nasal ventilation in neuromuscular disorders: report of a consensus conference
Robert, D, Willig, TN, Leger, P, Paulus, J
Published in The European respiratory journal (01.04.1993)
Published in The European respiratory journal (01.04.1993)
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Journal Article
Body composition determined with MR in patients with Duchenne muscular dystrophy, spinal muscular atrophy, and normal subjects
Leroy-Willig, A., Willig, T.N., Henry-Feugeas, M.C., Frouin, V., Marinier, E., Boulier, A., Barzic, F., Schouman-Claeys, E., Syrota, A.
Published in Magnetic resonance imaging (1997)
Published in Magnetic resonance imaging (1997)
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Journal Article
Identification of Microdeletions Spanning the Diamond-Blackfan Anemia Locus on 19q13 and Evidence for Genetic Heterogeneity
Gustavsson, Peter, Garelli, Emanuela, Draptchinskaia, Natalia, Ball, Sarah, Willig, Thiébaut-Noël, Tentler, Dimitri, Dianzani, Irma, Punnett, Hope H., Shafer, Frank E., Cario, Holger, Ramenghi, Ugo, Glomstein, Anders, Pfeiffer, Rudolf A., Goringe, Andy, Olivieri, Nancy F., Smibert, Elizabeth, Tchernia, Gil, Elinder, Göran, Dahl, Niklas
Published in American journal of human genetics (01.11.1998)
Published in American journal of human genetics (01.11.1998)
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Journal Article
High adenosine deaminase level among healthy probands of Diamond Blackfan Anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13
WILLIG, T. N, PERIGNON, J. L, CARTRON, J. P, DAHL, N, TCHERNIA, G, GUSTAVSSON, P, GANE, P, DRAPTCHINSKAYA, N, TESTARD, H, GIROT, R, DEBRE, M, STEPHAN, J. L, CHENEL, C
Published in Blood (01.12.1998)
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Published in Blood (01.12.1998)
Journal Article
Correlation of flexion contractures with upper extremity function and pain for spinal muscular atrophy and congenital myopathy patients
Willig, T N, Bach, J R, Rouffet, M J, Krivickas, L S, Maquet, C
Published in American journal of physical medicine & rehabilitation (01.01.1995)
Published in American journal of physical medicine & rehabilitation (01.01.1995)
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Journal Article
Swallowing Disorders in Muscular Diseases: Functional Assessment and Indications of Cricopharyngeal Myotomy
Guily, Jean Lacau St, Périé, Sophie, Willig, Thiébaut-Noël, Chaussade, Stanislas, Eymard, Bruno, Angelard, Bruno
Published in Ear, nose & throat journal (01.01.1994)
Published in Ear, nose & throat journal (01.01.1994)
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Journal Article
Conference Proceeding
Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 diamond-blackfan anemia patients
WILLIG, T.-N, NIEMEYER, C. M, STEPHAN, J.-L, GIROT, R, BORDIGONI, P, CORNU, G, BLANCHE, S, GUILLARD, J. M, MOHANDAS, N, TCHERNIA, G, LEBLANC, T, TIEMANN, C, ROBERT, A, BUDDE, J, LAMBILIOTTE, A, KOHNE, E, SOUILLET, G, EBER, S
Published in Pediatric research (01.11.1999)
Published in Pediatric research (01.11.1999)
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Journal Article
Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease
Gazda, Hanna, Lipton, Jeffrey M., Willig, Thiébaut-Noël, Ball, Sarah, Niemeyer, Charlotte M., Tchernia, Gil, Mohandas, Narla, Daly, Mark J., Ploszynska, Anna, Orfali, Karen A., Vlachos, Adrianna, Glader, Bertil E., Rokicka-Milewska, Roma, Ohara, Akira, Baker, David, Pospisilova, Dagmar, Webber, Allison, Viskochil, David H., Nathan, David G., Beggs, Alan H., Sieff, Colin A.
Published in Blood (01.04.2001)
Published in Blood (01.04.2001)
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Journal Article
Macrothrombocytopenia with abnormal demarcation membranes in megakaryocytes and neutropenia with a complete lack of sialyl–Lewis-X antigen in leukocytes—a new syndrome?
Willig, Thiebaut-Noel, Breton-Gorius, Jeanine, Elbim, Carole, Mignotte, Vincent, Kaplan, Cecile, Mollicone, Rosella, Pasquier, Catherine, Filipe, Anne, Miélot, Francoise, Cartron, Jean-Pierre, Gougerot-Pocidalo, Marie-Anne, Debili, Najet, Guichard, Josette, Dommergues, Jean-Paul, Mohandas, Narla, Tchernia, Gil
Published in Blood (01.02.2001)
Published in Blood (01.02.2001)
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Journal Article
Evaluation and management of dysphagia
Gilardeau, C, Kazandjian, M S, Bach, J R, Dikeman, K J, Willig, T N, Tucker, L M
Published in Seminars in neurology (01.03.1995)
Published in Seminars in neurology (01.03.1995)
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Journal Article
Diamond-Blackfan anemia
Da Costa, L, Willig, T N, Fixler, J, Mohandas, N, Tchernia, G
Published in Current opinion in pediatrics (01.02.2001)
Published in Current opinion in pediatrics (01.02.2001)
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Journal Article