Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: Holoprosencephaly and SIX3[original query] |
---|
[Genetic study of holoprosencephaly]. Annales de biologie clinique 2004 1 61 (6): 679-87. Dubourg C, Lazaro L, Blayau M, Pasquier L, Durou M-R, Odent S, David |
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. Journal of medical genetics 2009 Jun 46 (6): 389-98. Lacbawan F, Solomon B D, Roessler E, El-Jaick K, Domené S, Vélez J I, Zhou N, Hadley D, Balog J Z, Long R, Fryer A, Smith W, Omar S, McLean S D, Clarkson K, Lichty A, Clegg N J, Delgado M R, Levey E, Stashinko E, Potocki L, Vanallen M I, Clayton-Smith J, Donnai D, Bianchi D W, Juliusson P B, Njølstad P R, Brunner H G, Carey J C, Hehr U, Müsebeck J, Wieacker P F, Postra A, Hennekam R C M, van den Boogaard M-J H, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel C T R M, Janecke A R, Chitayat D, Hahn J, McDonald-McGinn D M, Zackai E H, Dobyns W B, Muenke |
Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE. Human genetics 2010 1 127 (4): 421-40. Rosenfeld Jill A, Ballif Blake C, Martin Donna M, Aylsworth Arthur S, Bejjani Bassem A, Torchia Beth S, Shaffer Lisa |
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. Journal of medical genetics 2012 Jul 49 (7): 7. Solomon BD, Bear KA, Wyllie A, Keaton AA, Dubourg C, David V, Mercier S, Odent S, Hehr U, Paulussen A, Clegg NJ, Delgado MR, Bale SJ, Lacbawan F, Ardinger HH, Aylsworth AS, Bhengu NL, Braddock S, Brookhyser K, Burton B, Gaspar H, Grix A, Horovitz D, Kanetzke E, Kayserili H, Lev D, Nikkel SM, Norton M, Roberts R, Saal H, Schaefer GB, Schneider A, Smith EK, Sowry E, Spence MA, Shalev SA, Steiner CE, Thompson EM, Winder TL, Balog JZ, Hadley DW, Zhou N, Pineda-Alvarez DE, Roessler E, Muenke M |
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway. Human mutation 2016 Jul . Dubourg Christèle, Carré Wilfrid, Hamdi-Rozé Houda, Mouden Charlotte, Roume Joëlle, Abdelmajid Benmansour, Amram Daniel, Baumann Clarisse, Chassaing Nicolas, Coubes Christine, Faivre-Olivier Laurence, Ginglinger Emmanuelle, Gonzales Marie, Levy-Mozziconacci Annie, Lynch Sally-Ann, Naudion Sophie, Pasquier Laurent, Poidvin Amélie, Prieur Fabienne, Sarda Pierre, Toutain Annick, Dupé Valérie, Akloul Linda, Odent Sylvie, de Tayrac Marie, David Véroniq |
[Analysis of a child with holoprosencephaly due to variant of SIX3 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 7 38 (7): 656-658. Zeng Hong, Xiao Ziwen, Xu Yongzhe, Qian Wen, Pan Wei, Zhao Danqi |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 16, 2024
- Content source: