Aquagenic palmar keratoderma in a patient heterozygous for the mutation c.3197G>C in the CFTR gene
Nadal, M, Laudier, B, Malinge, M C, Binois, R, Estève, E
Published in Annales de dermatologie et de vénéréologie (01.03.2015)
Published in Annales de dermatologie et de vénéréologie (01.03.2015)
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Journal Article
Meiotic segregation analysis in spermatozoa of pericentric inversion carriers using fluorescence in-situ hybridization
Morel, F., Laudier, B., Guérif, F., Couet, M.L., Royère, D., Roux, C., Bresson, J.L., Amice, V., De Braekeleer, M., Douet-Guilbert, N.
Published in Human reproduction (Oxford) (01.01.2007)
Published in Human reproduction (Oxford) (01.01.2007)
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Journal Article
New mitochondrial DNA mutation in Leber's hereditary optic neuropathy: A case report
Thulliez, M, Laudier, B, Vignal-Clermont, C, Hardy, G, Bonicel, P
Published in Journal francais d'ophtalmologie (01.06.2018)
Published in Journal francais d'ophtalmologie (01.06.2018)
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Journal Article
Meiotic segregation in spermatozoa of a 45,XY,-14,der(18)t(14;18)(q11;p11.3) translocation carrier: A Case Report
Perrin, A., Douet-Guilbert, N., Laudier, B., Couet, M.L., Guérif, F., Royère, D., Le Bris, M.J., De Braekeleer, M., Morel, F.
Published in Human reproduction (Oxford) (01.03.2007)
Published in Human reproduction (Oxford) (01.03.2007)
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Journal Article
PMX2B, a new candidate gene for Hirschsprung's disease
Benailly, HK, Lapierre, JM, Laudier, B, Amiel, J, Attié, T, De Blois, MC, Vekemans, M, Romana, SP
Published in Clinical genetics (01.09.2003)
Published in Clinical genetics (01.09.2003)
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Journal Article
X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family
Laumonnier, Frédéric, Bonnet-Brilhault, Frédérique, Gomot, Marie, Blanc, Romuald, David, Albert, Moizard, Marie-Pierre, Raynaud, Martine, Ronce, Nathalie, Lemonnier, Eric, Calvas, Patrick, Laudier, Béatrice, Chelly, Jamel, Fryns, Jean-Pierre, Ropers, Hans-Hilger, Hamel, Ben C.J., Andres, Christian, Barthélémy, Catherine, Moraine, Claude, Briault, Sylvain
Published in American journal of human genetics (01.03.2004)
Published in American journal of human genetics (01.03.2004)
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Journal Article
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
de Pontual, Loïc, Gener, Blanca, Simonneau, Michel, Munnich, Arnold, Etchevers, Heather, Amiel, Jeanne, Lyonnet, Stanislas, Attié-Bitach, Tania, Trochet, Delphine, Gaultier, Claude, Laudier, Béatrice, Trang, Ha, Ray, Pierre, Vekemans, Michel
Published in Nature genetics (01.04.2003)
Published in Nature genetics (01.04.2003)
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Journal Article
PHOX2B Genotype Allows for Prediction of Tumor Risk in Congenital Central Hypoventilation Syndrome
Trochet, Delphine, O'Brien, Louise M., Gozal, David, Trang, Ha, Nordenskjöld, Agneta, Laudier, Béatrice, Svensson, Pär-Johan, Uhrig, Sabine, Cole, Trevor, Munnich, Arnold, Gaultier, Claude, Lyonnet, Stanislas, Amiel, Jeanne
Published in American journal of human genetics (01.03.2005)
Published in American journal of human genetics (01.03.2005)
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Journal Article
P-452 – Agénésie artérielle pulmonaire associée à une délétion du chromosome 4
Brayette, M., Guerreiro, J., Zaarour, I., Ayass, N., Werner, E., Lopez, E., Carpentier, E., Laudier, B., Lefort, B.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.05.2015)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.05.2015)
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Journal Article
PHOX2B gene mutation in a patient with late‐onset central hypoventilation
Trang, Ha, Laudier, Béatrice, Trochet, Delphine, Munnich, Arnold, Lyonnet, Stanislas, Gaultier, Claude, Amiel, Jeanne
Published in Pediatric pulmonology (01.10.2004)
Published in Pediatric pulmonology (01.10.2004)
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Journal Article
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)
de Pontual, Loïc, Népote, Virginie, Attié-Bitach, Tania, Al Halabiah, Hassan, Trang, Ha, Elghouzzi, Vincent, Levacher, Béatrice, Benihoud, Karim, Augé, Joëlle, Faure, Christophe, Laudier, Béatrice, Vekemans, Michel, Munnich, Arnold, Perricaudet, Michel, Guillemot, François, Gaultier, Claude, Lyonnet, Stanislas, Simonneau, Michel, Amiel, Jeanne
Published in Human molecular genetics (01.12.2003)
Published in Human molecular genetics (01.12.2003)
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Journal Article
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome (vol 76, pg 421, 2005)
Trochet, D, Brien, LMO, Gozal, D, Trang, H, Nordenskjold, A, Laudier, B, Svensson, PJ, Uhrig, S, Cole, T, Niemann, S, Munnich, A, Gaultier, C, Lyonnet, S, Amiel, J
Published in American journal of human genetics (01.04.2005)
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Published in American journal of human genetics (01.04.2005)
Journal Article
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome (vol 76, pg 421, 2005)
Trochet, D, Brien, LMO, Gozal, D, Trang, H, Nordenskjöld, A, Laudier, B, Svensson, PJ, Uhrig, S, Cole, T, Niemann, S
Published in AMERICAN JOURNAL OF HUMAN GENETICS (2005)
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Published in AMERICAN JOURNAL OF HUMAN GENETICS (2005)
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