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Author/Creator Pelet, A

3. Hirschsprung disease, associated syndromes and genetics: a review. Issue 1 (26th October 2007)

Authors:
Amiel, J; Sproat-Emison, E; Garcia-Barcelo, M; Lantieri, F; Burzynski, G; Borrego, S; Pelet, A; Arnold, S; Miao, X; Griseri, P; Brooks, A S; Antinolo, G; de Pontual, L; Clement-Ziza, M; Munnich, A; Kashuk, C; West, K; Wong, K K-Y; Lyonnet, S; Chakravarti, A
Journal:
Journal of medical genetics
Issue:
Volume 45:Issue 1(2008)
Page Start:
1
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease. Issue 3 (2nd March 2005)

Authors:
Pelet, A; de Pontual, L; Clément-Ziza, M; Salomon, R; Mugnier, C; Matsuda, F; Lathrop, M; Munnich, A; Feingold, J; Lyonnet, S; Abel, L; Amiel, J
Journal:
Journal of medical genetics
Issue:
Volume 42:Issue 3(2005)
Page Start:
e18
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). Issue 7 (1st July 2005)

Authors:
Ferguson, P J; Chen, S; Tayeh, M K; Ochoa, L; Leal, S M; Pelet, A; Munnich, A; Lyonnet, S; Majeed, H A; El-Shanti, H
Journal:
Journal of medical genetics
Issue:
Volume 42:Issue 7(2005)
Page Start:
551
Record Type:
Journal Article
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7. Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus. Issue 5 (27th January 2006)

Authors:
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
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 5(2006)
Page Start:
419
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

9. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. Issue 3 (16th September 2005)

Authors:
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
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 3(2006)
Page Start:
211
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗