Human Genome Epidemiology Literature Finder
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Records 1 - 11 (of 11 Records) |
| Query Trace: Holoprosencephaly and SHH[original query] |
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| Mutational analysis of the Sonic Hedgehog gene in 220 newborns with oral clefts in a South American (ECLAMC) population. American journal of medical genetics 2002 Feb 108 (1): 12-5. Orioli Iêda M, Vieira Alexandre R, Castilla Eduardo E, Ming Jeffrey E, Muenke Maximili |
| [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 |
| Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly. Brain & development 2010 Mar 32 (3): 217-22. Bertolacini Claudia Danielli Pereira, Richieri-Costa Antonio, Ribeiro-Bicudo Lucilene Aril |
| 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 |
| Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly. Molecular genetics and metabolism 2011 Apr 102 (4): 470-80. Kauvar Emily F, Hu Ping, Pineda-Alvarez Daniel E, Solomon Benjamin D, Dutra Amalia, Pak Evgenia, Blessing Brooke, Proud Virginia, Shanske Alan L, Stevens Cathy A, Rosenfeld Jill A, Shaffer Lisa G, Roessler Erich, Muenke Maximili |
| 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 |
| Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects. Clinical endocrinology 2015 Apr 82 (4): 562-9. Paulo Sabrina Soares, Fernandes-Rosa Fábio L, Turatti Wendy, Coeli-Lacchini Fernanda Borchers, Martinelli Carlos E, Nakiri Guilherme S, Moreira Ayrton C, Santos Antônio C, de Castro Margaret, Antonini Sonir |
| 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 |
| Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly. Brain : a journal of neurology 2018 12 142 (1): 35-49. Kim Artem, Savary Clara, Dubourg Christèle, Carré Wilfrid, Mouden Charlotte, Hamdi-Rozé Houda, Guyodo Hélène, Douce Jerome Le, , , Pasquier Laurent, Flori Elisabeth, Gonzales Marie, Bénéteau Claire, Boute Odile, Attié-Bitach Tania, Roume Joelle, Goujon Louise, Akloul Linda, Odent Sylvie, Watrin Erwan, Dupé Valérie, de Tayrac Marie, David Véroniq |
| Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization. Clinical endocrinology 2018 12 90 (3): 449-456. Babu Deepak, Fanelli Antonella, Mellone Simona, Muniswamy Ranjith, Wasniewska Malgorzata, Prodam Flavia, Petri Antonella, Bellone Simonetta, Salerno Maria Carolina, Giordano Ma |
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