17 results for author:"van Vliet G." in Literature citations
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| Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. Tornberg J., Sykiotis G.P., Keefe K., Plummer L., Hoang X., Hall J.E., Quinton R., Seminara S.B., Hughes V., Van Vliet G. et al. Proc. Natl. Acad. Sci. U.S.A. 108:11524-11529(2011) · Mapped (7) |
| Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism. Hoste C., Rigutto S., Van Vliet G., Miot F., De Deken X. Hum. Mutat. 31:E1304-E1319(2010) · UniProtKB (1) |
| Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene. Maquet E., Costagliola S., Parma J., Christophe-Hobertus C., Oligny L.L., Fournet J.C., Robitaille Y., Vuissoz J.M., Payot A., Laberge S. et al. J. Clin. Endocrinol. Metab. 94:197-203(2009) · Mapped (3) |
| Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. Cole L.W., Sidis Y., Zhang C., Quinton R., Plummer L., Pignatelli D., Hughes V.A., Dwyer A.A., Raivio T., Hayes F.J. et al. J. Clin. Endocrinol. Metab. 93:3551-3559(2008) · Mapped (3) |
| Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis. Carre A., Castanet M., Sura-Trueba S., Szinnai G., Van Vliet G., Trochet D., Amiel J., Leger J., Czernichow P., Scotet V. et al. Hum. Genet. 122:467-476(2007) · Mapped (1) |
| Studies of haemoglobin types in Barbary sheep (Ammotragus lervia). Huisman T.H.J., Dasher G.A., Moretz W.H. Jr., Dozy A.M., Wilson J.B., van Vliet G. Biochem. J. 107:745-751(1968) · UniProtKB (1) |
| Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. Huang N., Pandey A.V., Agrawal V., Reardon W., Lapunzina P.D., Mowat D., Jabs E.W., Van Vliet G., Sack J., Fluck C.E. et al. Am. J. Hum. Genet. 76:729-749(2005) · Mapped (1) |
| A neonatal form of isolated ACTH deficiency frequently associated with Tpit gene mutations. Vallette-Kasic S., Pulichino A.M., Gueydan M., Barlier A., David M., Malpuech G., Deal C., Van Vliet G., de Vroede M., Riepe F. et al. Endocr. Res. 30:943-944(2004) · Mapped (10) |
| Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations. Vallette-Kasic S., Brue T., Pulichino A.M., Gueydan M., Barlier A., David M., Nicolino M., Malpuech G., Dechelotte P., Deal C. et al. J. Clin. Endocrinol. Metab. 90:1323-1331(2005) · Mapped (4) |
| Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. Pulichino A.M., Vallette-Kasic S., Couture C., Gauthier Y., Brue T., David M., Malpuech G., Deal C., Van Vliet G., De Vroede M. et al. Genes Dev. 17:711-716(2003) · Mapped (6) |
| Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita. Zhang Y.H., Huang B.L., Anyane-Yeboa K., Carvalho J.A., Clemons R.D., Cole T., De Figueiredo B.C., Lubinsky M., Metzger D.L., Quadrelli R. et al. |
| Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase. MacMullen C., Fang J., Hsu B.Y.L., Kelly A., de Lonlay-Debeney P., Saudubray J.-M., Ganguly A., Smith T.J., Stanley C.A., Brown R. et al. J. Clin. Endocrinol. Metab. 86:1782-1787(2001) · UniProtKB (1) · Mapped (1) |
| A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3beta-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: evaluation of gonadal function after puberty. Alos N., Moisan A.M., Ward L., Desrochers M., Legault L., Leboeuf G., van Vliet G., Simard J. J. Clin. Endocrinol. Metab. 85:1968-1974(2000) · UniProtKB (1) |
| Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid distinct entities? Gagne N., Parma J., Deal C., Vassart G., Van Vliet G. J. Clin. Endocrinol. Metab. 83:1771-1775(1998) · Mapped (6) |
| Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs alpha genes as a cause of toxic thyroid adenomas. Parma J., Duprez L., van Sande J., Hermans J., Rocmans P., van Vliet G., Costagliola S., Rodien P., Dumont J.E., Vassart G. J. Clin. Endocrinol. Metab. 82:2695-2701(1997) · UniProtKB (1) |
| A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene. Collu R., Tang J., Castagne J., Lagace G., Masson N., Huot C., Deal C., Delvin E., Faccenda E., Eidne K.A. et al. J. Clin. Endocrinol. Metab. 82:1561-1565(1997) · Mapped (3) |
| The persistent Mullerian duct syndrome: a molecular approach. Guerrier D., Tran D., Vanderwinden J.M., Hideux S., Van Outryve L., Legeai L., Bouchard M., Van Vliet G., De Laet M.H., Picard J.Y. J. Clin. Endocrinol. Metab. 68:46-52(1989) · Mapped (2) |