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Parathyroid function and growth in 22q11.2 deletion syndrome.
Brauner R, Le Harivel de Gonneville A, Kindermans C, Le Bidois J, Prieur M, Lyonnet S, Souberbielle JC. Brauner R, et al. J Pediatr. 2003 May;142(5):504-8. doi: 10.1067/mpd.2003.156. J Pediatr. 2003. PMID: 12756381
Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L, Cormier-Daire V. Rio M, et al. Among authors: brauner r. J Med Genet. 2003 Jun;40(6):436-40. doi: 10.1136/jmg.40.6.436. J Med Genet. 2003. PMID: 12807965 Free PMC article.
Identification of mutations in CUL7 in 3-M syndrome.
Huber C, Dias-Santagata D, Glaser A, O'Sullivan J, Brauner R, Wu K, Xu X, Pearce K, Wang R, Uzielli ML, Dagoneau N, Chemaitilly W, Superti-Furga A, Dos Santos H, Mégarbané A, Morin G, Gillessen-Kaesbach G, Hennekam R, Van der Burgt I, Black GC, Clayton PE, Read A, Le Merrer M, Scambler PJ, Munnich A, Pan ZQ, Winter R, Cormier-Daire V. Huber C, et al. Among authors: brauner r. Nat Genet. 2005 Oct;37(10):1119-24. doi: 10.1038/ng1628. Epub 2005 Sep 4. Nat Genet. 2005. PMID: 16142236
PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency.
Vallette-Kasic S, Barlier A, Teinturier C, Diaz A, Manavela M, Berthezène F, Bouchard P, Chaussain JL, Brauner R, Pellegrini-Bouiller I, Jaquet P, Enjalbert A, Brue T. Vallette-Kasic S, et al. Among authors: brauner r. J Clin Endocrinol Metab. 2001 Sep;86(9):4529-35. doi: 10.1210/jcem.86.9.7811. J Clin Endocrinol Metab. 2001. PMID: 11549703
320 results