Estimating the age of rare disease mutations: the example of Triple-A syndrome

Por Genin, E, Tullio-Pelet, A, Begeot, F, Lyonnet, S, Abel, L
Publicado em 2004

Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease.

Por Attié, T, Till, M, Pelet, A, Edery, P, Bonnet, J P, Munnich, A, Lyonnet, S
Publicado em 1995

Investigation of germline GFRα-1 mutations in Hirschsprung disease

Por Myers, S., Salomon, R., Goessling, A., Pelet, A., Eng, C., von Deimling, A., Lyonnet, S., Mulligan, L.
Publicado em 1999

Mutations of the RET-GDNF signaling pathway in Ondine's curse.

Por Amiel, J, Salomon, R, Attié, T, Pelet, A, Trang, H, Mokhtari, M, Gaultier, C, Munnich, A, Lyonnet, S
Publicado em 1998

Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.

Por Pelet, A, Geneste, O, Edery, P, Pasini, A, Chappuis, S, Atti, T, Munnich, A, Lenoir, G, Lyonnet, S, Billaud, M
Publicado em 1998

GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype

Por Bahuau, M., Pelet, A., Vidaud, D., Lamireau, T., Le Bail, B., Munnich, A., Vidaud, M., Lyonnet, S., Lacombe, D.
Publicado em 2001

Contribution to carrier detection and genetic counselling in X linked retinoschisis.

Por Kaplan, J, Pelet, A, Hentati, H, Jeanpierre, M, Briard, M L, Journel, H, Munnich, A, Dufier, J L
Publicado em 1991

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)

Por Ferguson, P, Chen, S, Tayeh, M, Ochoa, L, Leal, S, Pelet, A, Munnich, A, Lyonnet, S, Majeed, H, El-Shanti, H
Publicado em 2005

Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.

Por Edery, P, Pelet, A, Mulligan, L M, Abel, L, Attié, T, Dow, E, Bonneau, D, David, A, Flintoff, W, Jan, D
Publicado em 1994

Phenotype-genotype correlations in X linked retinitis pigmentosa.

Por Kaplan, J, Pelet, A, Martin, C, Delrieu, O, Aymé, S, Bonneau, D, Briard, M L, Hanauer, A, Larget-Piet, L, Lefrançois, P
Publicado em 1992

Site specific screening for point mutations in ornithine transcarbamylase deficiency.

Por Feldmann, D, Rozet, J M, Pelet, A, Hentzen, D, Briand, P, Hubert, P, Largilliere, C, Rabier, D, Farriaux, J P, Munnich, A
Publicado em 1992

Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplas...

Por BAHUAU, M., LAURENDEAU, I., PELET, A., ASSOULINE, B., LAMIREAU, T., TAINE, L., LE BAIL, B., VERGNES, P., GALLET, S., VIDAUD, M., LYONNET, S., LACOMBE, D., VIDAUD, D.
Publicado em 2000

Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus

Por de Pontual, L, Pelet, A, Trochet, D, Jaubert, F, Espinosa‐Parrilla, Y, Munnich, A, Brunet, J‐F, Goridis, C, Feingold, J, Lyonnet, S, Amiel, J
Publicado em 2006

Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease

Por Pelet, A, de Pontual, L, Clement-Ziza, M, Salomon, R, Mugnier, C, Matsuda, F, Lathrop, M, Munnich, A, Feingold, J, Lyonnet, S, Abel, L, Amiel, J
Publicado em 2005

Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.

Por Touraine, R L, Attié-Bitach, T, Manceau, E, Korsch, E, Sarda, P, Pingault, V, Encha-Razavi, F, Pelet, A, Augé, J, Nivelon-Chevallier, A, Holschneider, A M, Munnes, M, Doerfler, W, Goossens, M, Munnich, A, Vekemans, M, Lyonnet, S
Publicado em 2000

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

Por Sanlaville, D, Etchevers, H C, Gonzales, M, Martinovic, J, Clément‐Ziza, M, Delezoide, A‐L, Aubry, M‐C, Pelet, A, Chemouny, S, Cruaud, C, Audollent, S, Esculpavit, C, Goudefroye, G, Ozilou, C, Fredouille, C, Joye, N, Morichon‐Delvallez, N, Dumez, Y, Weissenbach, J, Munnich, A, Amiel, J, Encha‐Razavi, F, Lyonnet, S, Vekemans, M, Attié‐Bitach, T
Publicado em 2006