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Page 1
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Carmignac V, Mignot C, Blanchard E, Kuentz P, Aubriot-Lorton MH, Parker VER, Sorlin A, Fraitag S, Courcet JB, Duffourd Y, Rodriguez D, Knox RG, Polubothu S, Boland A, Olaso R, Delepine M, Darmency V, Riachi M, Quelin C, Rollier P, Goujon L, Grotto S, Capri Y, Jacquemont ML, Odent S, Amram D, Chevarin M, Vincent-Delorme C, Catteau B, Guibaud L, Arzimanoglou A, Keddar M, Sarret C, Callier P, Bessis D, Geneviève D, Deleuze JF, Thauvin C, Semple RK, Philippe C, Rivière JB, Kinsler VA, Faivre L, Vabres P. Carmignac V, et al. Among authors: goujon l. Genet Med. 2021 Aug;23(8):1484-1491. doi: 10.1038/s41436-021-01161-6. Epub 2021 Apr 8. Genet Med. 2021. PMID: 33833411 Free PMC article.
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Carmignac V, Mignot C, Blanchard E, Kuentz P, Aubriot-Lorton MH, Parker VER, Sorlin A, Fraitag S, Courcet JB, Duffourd Y, Rodriguez D, Knox RG, Polubothu S, Boland A, Olaso R, Delepine M, Darmency V, Riachi M, Quelin C, Rollier P, Goujon L, Grotto S, Capri Y, Jacquemont ML, Odent S, Amram D, Chevarin M, Vincent-Delorme C, Catteau B, Guibaud L, Arzimanoglou A, Keddar M, Sarret C, Callier P, Bessis D, Geneviève D, Deleuze JF, Thauvin C, Semple RK, Philippe C, Rivière JB, Kinsler VA, Faivre L, Vabres P. Carmignac V, et al. Among authors: goujon l. Genet Med. 2021 Aug;23(8):1585. doi: 10.1038/s41436-021-01217-7. Genet Med. 2021. PMID: 34257424 Free PMC article. No abstract available.
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Kim A, Savary C, Dubourg C, Carré W, Mouden C, Hamdi-Rozé H, Guyodo H, Douce JL; FREX Consortium; GoNL Consortium; Pasquier L, Flori E, Gonzales M, Bénéteau C, Boute O, Attié-Bitach T, Roume J, Goujon L, Akloul L, Odent S, Watrin E, Dupé V, de Tayrac M, David V. Kim A, et al. Among authors: goujon l. Brain. 2019 Jan 1;142(1):35-49. doi: 10.1093/brain/awy290. Brain. 2019. PMID: 30508070 Free article.
The growth hormone/prolactin receptor family.
Kelly PA, Ali S, Rozakis M, Goujon L, Nagano M, Pellegrini I, Gould D, Djiane J, Edery M, Finidori J, et al. Kelly PA, et al. Among authors: goujon l. Recent Prog Horm Res. 1993;48:123-64. doi: 10.1016/b978-0-12-571148-7.50009-9. Recent Prog Horm Res. 1993. PMID: 8441846 Review. No abstract available.
[Different forms of growth hormone and prolactin receptors].
Finidori J, Sotiropoulos A, Goujon L, Lebrun JJ, Edery M, Postel Vinay MC, Kelly P. Finidori J, et al. Among authors: goujon l. Ann Endocrinol (Paris). 1993;54(6):363-6. Ann Endocrinol (Paris). 1993. PMID: 7944276 Review. French. No abstract available.
Growth hormone receptor structure, dimerization and function.
Kelly PA, Postel-Vinay MC, Finidori J, Edery M, Sotiropoulos A, Goujon L, Esposito N. Kelly PA, et al. Among authors: goujon l. Acta Paediatr Suppl. 1994 Apr;399:107-11. doi: 10.1111/j.1651-2227.1994.tb13301.x. Acta Paediatr Suppl. 1994. PMID: 7949593 Review. No abstract available.
27 results