Human RSPO1/R-spondin1 Is Expressed during Early Ovary Development and Augments β-Catenin Signaling

por Tomaselli, Sara, Megiorni, Francesca, Lin, Lin, Mazzilli, Maria Cristina, Gerrelli, Dianne, Majore, Silvia, Grammatico, Paola, Achermann, John C.
Publicado 2011

Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency

por El-Khairi, Ranna, Parnaik, Rahul, Duncan, Andrew J., Lin, Lin, Gerrelli, Dianne, Dattani, Mehul T., Conway, Gerard S., Achermann, John C.
Publicado 2012

Distinct expression patterns for type II topoisomerases IIA and IIB in the early foetal human telencephalon

por Harkin, Lauren F., Gerrelli, Dianne, Gold Diaz, Diana C., Santos, Chloe, Alzu'bi, Ayman, Austin, Caroline A., Clowry, Gavin J.
Publicado 2015

Widespread dynamic and pleiotropic expression of the melanocortin‐1‐receptor (MC1R) system is conserved across chick, mouse and human embryonic development

por Thomas, Anna C., Heux, Pauline, Santos, Chloe, Arulvasan, Wisenave, Solanky, Nita, Carey, Magalie E., Gerrelli, Dianne, Kinsler, Veronica A., Etchevers, Heather C.
Publicado 2018

A genomic atlas of human adrenal and gonad development

por del Valle, Ignacio, Buonocore, Federica, Duncan, Andrew J., Lin, Lin, Barenco, Martino, Parnaik, Rahul, Shah, Sonia, Hubank, Mike, Gerrelli, Dianne, Achermann, John C.
Publicado 2017

HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development

por Lindsay, Susan J., Xu, Yaobo, Lisgo, Steven N., Harkin, Lauren F., Copp, Andrew J., Gerrelli, Dianne, Clowry, Gavin J., Talbot, Aysha, Keogh, Michael J., Coxhead, Jonathan, Santibanez-Koref, Mauro, Chinnery, Patrick F.
Publicado 2016

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis

por Cheong, Sek-Shir, Hentschel, Lisa, Davidson, Alice E., Gerrelli, Dianne, Davie, Rebecca, Rizzo, Roberta, Pontikos, Nikolas, Plagnol, Vincent, Moore, Anthony T., Sowden, Jane C., Michaelides, Michel, Snead, Martin, Tuft, Stephen J., Hardcastle, Alison J.
Publicado 2016

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

por Pagnamenta, Alistair T, Khan, Hameed, Walker, Susan, Gerrelli, Dianne, Wing, Kirsty, Bonaglia, Maria Clara, Giorda, Roberto, Berney, Tom, Mani, Elisa, Molteni, Massimo, Pinto, Dalila, Le Couteur, Ann, Hallmayer, Joachim, Sutcliffe, James S, Szatmari, Peter, Paterson, Andrew D, Scherer, Stephen W, Vieland, Veronica J, Monaco, Anthony P
Publicado 2010

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

por Evrony, Gilad D., Cordero, Dwight R., Shen, Jun, Partlow, Jennifer N., Yu, Timothy W., Rodin, Rachel E., Hill, R. Sean, Coulter, Michael E., Lam, Anh-Thu N., Jayaraman, Divya, Gerrelli, Dianne, Diaz, Diana G., Santos, Chloe, Morrison, Victoria, Galli, Antonella, Tschulena, Ulrich, Wiemann, Stefan, Martel, M. Jocelyne, Spooner, Betty, Ryu, Steven C., Elhosary, Princess C., Richardson, Jillian M., Tierney, Danielle, Robinson, Christopher A., Chibbar, Rajni, Diudea, Dana, Folkerth, Rebecca, Wiebe, Sheldon, Barkovich, A. James, Mochida, Ganeshwaran H., Irvine, James, Lemire, Edmond G., Blakley, Patricia, Walsh, Christopher A.
Publicado 2017

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

por Holt, Richard J., Young, Rodrigo M., Crespo, Berta, Ceroni, Fabiola, Curry, Cynthia J., Bellacchio, Emanuele, Bax, Dorine A., Ciolfi, Andrea, Simon, Marleen, Fagerberg, Christina R., van Binsbergen, Ellen, De Luca, Alessandro, Memo, Luigi, Dobyns, William B., Mohammed, Alaa Afif, Clokie, Samuel J.H., Zazo Seco, Celia, Jiang, Yong-Hui, Sørensen, Kristina P., Andersen, Helle, Sullivan, Jennifer, Powis, Zöe, Chassevent, Anna, Smith-Hicks, Constance, Petrovski, Slavé, Antoniadi, Thalia, Shashi, Vandana, Gelb, Bruce D., Wilson, Stephen W., Gerrelli, Dianne, Tartaglia, Marco, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K.
Publicado 2019