The Homeobox Transcription Factor HOXA9 Is a Regulator of SHOX in U2OS Cells and Chicken Micromass Cultures

Por Durand, Claudia, Decker, Eva, Roeth, Ralph, Schneider, Katja U., Rappold, Gudrun
Publicado em 2012

Alternative Splicing and Nonsense-Mediated RNA Decay Contribute to the Regulation of SHOX Expression

Por Durand, Claudia, Roeth, Ralph, Dweep, Harsh, Vlatkovic, Irena, Decker, Eva, Schneider, Katja Ute, Rappold, Gudrun
Publicado em 2011

Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA)

Por Muncke, Nadja, Niesler, Beate, Roeth, Ralph, Schön, Karin, Rüdiger, Heinz-Juergen, Goldmuntz, Elizabeth, Goodship, Judith, Rappold, Gudrun
Publicado em 2005

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency

Por Rappold, Gudrun, Blum, Werner F, Shavrikova, Elena P, Crowe, Brenda J, Roeth, Ralph, Quigley, Charmian A, Ross, Judith L, Niesler, Beate
Publicado em 2007

Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature

Por Montalbano, Antonino, Juergensen, Lonny, Fukami, Maki, Thiel, Christian T, Hauer, Nadine H, Roeth, Ralph, Weiss, Birgit, Naiki, Yasuhiro, Ogata, Tsutomu, Hassel, David, Rappold, Gudrun A.
Publicado no Eur J Hum Genet (2018)

Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency

Por Montalbano, Antonino, Juergensen, Lonny, Roeth, Ralph, Weiss, Birgit, Fukami, Maki, Fricke‐Otto, Susanne, Binder, Gerhard, Ogata, Tsutomu, Decker, Eva, Nuernberg, Gudrun, Hassel, David, Rappold, Gudrun A
Publicado no EMBO Mol Med (2016)

miR-16 and miR-125b are involved in barrier function dysregulation through the modulation of claudin-2 and cingulin expression in the jejunum in IBS with diarrhoea

Por Martínez, Cristina, Rodiño-Janeiro, Bruno K, Lobo, Beatriz, Stanifer, Megan L, Klaus, Bernd, Granzow, Martin, González-Castro, Ana M, Salvo-Romero, Eloisa, Alonso-Cotoner, Carmen, Pigrau, Marc, Roeth, Ralph, Rappold, Gudrun, Huber, Wolfgang, González-Silos, Rosa, Lorenzo, Justo, de Torres, Inés, Azpiroz, Fernando, Boulant, Steeve, Vicario, María, Niesler, Beate, Santos, Javier
Publicado no Gut (2017)

SHANK1 Deletions in Males with Autism Spectrum Disorder

Por Sato, Daisuke, Lionel, Anath C., Leblond, Claire S., Prasad, Aparna, Pinto, Dalila, Walker, Susan, O'Connor, Irene, Russell, Carolyn, Drmic, Irene E., Hamdan, Fadi F., Michaud, Jacques L., Endris, Volker, Roeth, Ralph, Delorme, Richard, Huguet, Guillaume, Leboyer, Marion, Rastam, Maria, Gillberg, Christopher, Lathrop, Mark, Stavropoulos, Dimitri J., Anagnostou, Evdokia, Weksberg, Rosanna, Fombonne, Eric, Zwaigenbaum, Lonnie, Fernandez, Bridget A., Roberts, Wendy, Rappold, Gudrun A., Marshall, Christian R., Bourgeron, Thomas, Szatmari, Peter, Scherer, Stephen W.
Publicado em 2012