1 - 25 of 45 results for author:"Delezoide A.-L." in Literature citations
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| Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. Huber C., Faqeih E.A., Bartholdi D., Bole-Feysot C., Borochowitz Z., Cavalcanti D.P., Frigo A., Nitschke P., Roume J., Santos H.G. et al. Am. J. Hum. Genet. 92:144-149(2013) · Mapped (1) |
| Negative fetal FSH/LH regulation in late pregnancy is associated with declined kisspeptin/KISS1R expression in the tuberal hypothalamus. Guimiot F., Chevrier L., Dreux S., Chevenne D., Caraty A., Delezoide A.L., de Roux N. J. Clin. Endocrinol. Metab. 97:E2221-9(2012) · Mapped (7) |
| Central nervous system malformations and deformations in FGFR2-related craniosynostosis. Khonsari R.H., Delezoide A.L., Kang W., Hebert J.M., Bessieres B., Bodiguel V., Collet C., Legeai-Mallet L., Sharpe P.T., Fallet-Bianco C. Am. J. Med. Genet. A 158A:2797-2806(2012) · Mapped (41) |
| Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene. Delahaye A., Khung-Savatovsky S., Aboura A., Guimiot F., Drunat S., Alessandri J.L., Gerard M., Bitoun P., Boumendil J., Robin S. et al. Am. J. Med. Genet. A 158A:2430-2438(2012) · Mapped (5) |
| NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. El Hokayem J., Huber C., Couve A., Aziza J., Baujat G., Bouvier R., Cavalcanti D.P., Collins F.A., Cordier M.P., Delezoide A.L. et al. J. Med. Genet. 49:227-233(2012) · Mapped (4) |
| Lack of renal 11 beta-hydroxysteroid dehydrogenase type 2 at birth, a targeted temporal window for neonatal glucocorticoid action in human and mice. Martinerie L., Pussard E., Meduri G., Delezoide A.L., Boileau P., Lombes M. PLoS ONE 7:e31949-e31949(2012) · Mapped (4) |
| RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects. Jeanpierre C., Mace G., Parisot M., Moriniere V., Pawtowsky A., Benabou M., Martinovic J., Amiel J., Attie-Bitach T., Delezoide A.L. et al. J. Med. Genet. 48:497-504(2011) · Mapped (2) |
| Monocytic cells derived from human embryonic stem cells and fetal liver share common differentiation pathways and homeostatic functions. Klimchenko O., Di Stefano A., Geoerger B., Hamidi S., Opolon P., Robert T., Routhier M., El-Benna J., Delezoide A.L., Boukour S. et al. Blood 117:3065-3075(2011) |
| BBS10 mutations are common in 'Meckel'-type cystic kidneys. Putoux A., Mougou-Zerelli S., Thomas S., Elkhartoufi N., Audollent S., Le Merrer M., Lachmeijer A., Sigaudy S., Buenerd A., Fernandez C. et al. J. Med. Genet. 47:848-852(2010) · Mapped (2) |
| Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. Denamur E., Delezoide A.L., Alberti C., Bourillon A., Gubler M.C., Bouvier R., Pascaud O., Elion J., Grandchamp B., Michel-Calemard L. et al. Kidney Int. 77:350-358(2010) · Mapped (2) |
| New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling. Schibler L., Gibbs L., Benoist-Lasselin C., Decraene C., Martinovic J., Loget P., Delezoide A.L., Gonzales M., Munnich A., Jais J.P. et al. PLoS ONE 4:e7633-e7633(2009) · Mapped (10) |
| CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Mougou-Zerelli S., Thomas S., Szenker E., Audollent S., Elkhartoufi N., Babarit C., Romano S., Salomon R., Amiel J., Esculpavit C. et al. Hum. Mutat. 30:1574-1582(2009) · UniProtKB (1) |
| Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. Cavalcanti D.P., Huber C., Sang K.H., Baujat G., Collins F., Delezoide A.L., Dagoneau N., Le Merrer M., Martinovic J., Mello M.F. et al. J. Med. Genet. 48:88-92(2011) · Mapped (1) |
| Low renal mineralocorticoid receptor expression at birth contributes to partial aldosterone resistance in neonates. Martinerie L., Viengchareun S., Delezoide A.L., Jaubert F., Sinico M., Prevot S., Boileau P., Meduri G., Lombes M. Endocrinology 150:4414-4424(2009) · Mapped (44) |
| A quantitative assessment of gene expression (QAGE) reveals differential overexpression of DOPEY2, a candidate gene for mental retardation, in Down syndrome brain regions. Rachidi M., Delezoide A.L., Delabar J.M., Lopes C. Int. J. Dev. Neurosci. 27:393-398(2009) · Mapped (1) |
| Thanatophoric dysplasia caused by double missense FGFR3 mutations. Pannier S., Martinovic J., Heuertz S., Delezoide A.L., Munnich A., Schibler L., Serre V., Legeai-Mallet L. Am. J. Med. Genet. A 149A:1296-1301(2009) · Mapped (10) |
| DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Dagoneau N., Goulet M., Genevieve D., Sznajer Y., Martinovic J., Smithson S., Huber C., Baujat G., Flori E., Tecco L. et al. Am. J. Hum. Genet. 84:706-711(2009) · UniProtKB (1) |
| Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia. Chassaing N., Golzio C., Odent S., Lequeux L., Vigouroux A., Martinovic-Bouriel J., Tiziano F.D., Masini L., Piro F., Maragliano G. et al. |
| A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Huber C., Delezoide A.L., Guimiot F., Baumann C., Malan V., Le Merrer M., Da Silva D.B., Bonneau D., Chatelain P., Chu C. et al. Eur. J. Hum. Genet. 17:395-400(2009) · Mapped (2) |
| DYRK1A interacts with the REST/NRSF-SWI/SNF chromatin remodelling complex to deregulate gene clusters involved in the neuronal phenotypic traits of Down syndrome. Lepagnol-Bestel A.M., Zvara A., Maussion G., Quignon F., Ngimbous B., Ramoz N., Imbeaud S., Loe-Mie Y., Benihoud K., Agier N. et al. Hum. Mol. Genet. 18:1405-1414(2009) · Mapped (11) |
| SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects. Lepagnol-Bestel A.M., Maussion G., Boda B., Cardona A., Iwayama Y., Delezoide A.L., Moalic J.M., Muller D., Dean B., Yoshikawa T. et al. Mol. Psychiatry 13:385-397(2008) · Mapped (4) |
| Quantitative evaluation of collagen type VI and SOD gene expression in the nuchal skin of human fetuses with trisomy 21. Quarello E., Guimiot F., Moalic J.M., Simoneau M., Ville Y., Delezoide A.L. Prenat. Diagn. 27:926-931(2007) · Mapped (12) |
| Coexpression of Wilms' tumor suppressor 1 (WT1) and androgen receptor (AR) in the genital tract of human male embryos and regulation of AR promoter activity by WT1. Kohler B., Delezoide A.L., Boizet-Bonhoure B., McPhaul M.J., Sultan C., Lumbroso S. J. Mol. Endocrinol. 38:547-554(2007) · Mapped (11) |
| Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome. Vieira V., David G., Roche O., de la Houssaye G., Boutboul S., Arbogast L., Kobetz A., Orssaud C., Camand O., Schorderet D.F. et al. Mol. Vis. 12:1448-1460(2006) · Mapped (2) |
| Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families. Bouchet C., Vuillaumier-Barrot S., Gonzales M., Boukari S., Bizec C.L., Fallet C., Delezoide A.L., Moirot H., Laquerriere A., Encha-Razavi F. et al. Mol. Genet. Metab. 90:93-96(2007) · Mapped (9) |