Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Dianne Gerrelli"'
Autor:
Ignacio del Valle, Federica Buonocore, Andrew J. Duncan, Lin Lin, Martino Barenco, Rahul Parnaik, Sonia Shah, Mike Hubank, Dianne Gerrelli, John C. Achermann
Publikováno v:
Wellcome Open Research, Vol 2 (2017)
Background: In humans, the adrenal glands and gonads undergo distinct biological events between 6-10 weeks post conception (wpc), such as testis determination, the onset of steroidogenesis and primordial germ cell development. However, relatively lit
Externí odkaz:
https://doaj.org/article/a2a6b772d1ae46f9afe9285b9c3ad87f
Autor:
Ignacio del Valle, Federica Buonocore, Andrew J. Duncan, Lin Lin, Martino Barenco, Rahul Parnaik, Sonia Shah, Mike Hubank, Dianne Gerrelli, John C. Achermann
Publikováno v:
Wellcome Open Research, Vol 2 (2017)
Background: In humans, the adrenal glands and gonads undergo distinct biological events between 6-10 weeks post conception (wpc), such as testis determination, the onset of steroidogenesis and primordial germ cell development. However, relatively lit
Externí odkaz:
https://doaj.org/article/403f21a5abf940409c7f13054d4a2ac2
Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signaling.
Autor:
Sara Tomaselli, Francesca Megiorni, Lin Lin, Maria Cristina Mazzilli, Dianne Gerrelli, Silvia Majore, Paola Grammatico, John C Achermann
Publikováno v:
PLoS ONE, Vol 6, Iss 1, p e16366 (2011)
Human testis development starts from around 42 days post conception with a transient wave of SRY expression followed by up-regulation of testis specific genes and a distinct set of morphological, paracrine and endocrine events. Although anatomical ch
Externí odkaz:
https://doaj.org/article/5314ff9cf3484c2c939a73d7b5870bc7
Autor:
Kaylee Park, Georg Seelig, Robert J. Hopkin, Steven Lisgo, Joseph G. Gleeson, Yuri A. Zarate, Charles E. Schwartz, Stephen R. Braddock, Katherine Wusik, Zachary Thomson, Deborah A. Nickerson, Charles M. Roco, Susan Sell, Jordan Zeiger, Chi V. Cheng, Matthew Hirano, Julie R. Jones, Roger L. Ladda, Gisele E. Ishak, Amy Goldstein, David B. Everman, Dan Doherty, Sarah Collins, William B. Dobyns, Lynne M. Overmann, Ian A. Glass, Alexander B. Rosenberg, Megan T. Cho, Kathleen A. Leppig, Kimberly A. Aldinger, Brian H.Y. Chung, Andrew E. Timms, Kathleen J. Millen, Fatima Abidi, Michael J. Bamshad, Cynthia J. Curry, Fowzan S. Alkuraya, A. James Barkovich, James T. Bennett, Parthiv Haldipur, Leslie G. Biesecker, Ian D. Krantz, Ghayda M. Mirzaa, Dianne Gerrelli, Barbara McGillivray, Sara S. Cathey
Publikováno v:
The American Journal of Human Genetics. 105:606-615
Cerebellar malformations are diverse congenital anomalies frequently associated with developmental disability. Although genetic and prenatal non-genetic causes have been described, no systematic analysis has been performed. Here, we present a large-e
Autor:
Alaa Afif Mohammed, Yong-hui Jiang, Thalia Antoniadi, Cynthia J. Curry, Celia Zazo Seco, Dorine Bax, Slavé Petrovski, Samuel J.H. Clokie, Vandana Shashi, Stephen W. Wilson, Dianne Gerrelli, Nicola K. Ragge, Marco Tartaglia, Nicolas Chassaing, Andrea Ciolfi, Marleen Simon, Bruce D. Gelb, Helle Andersen, Zöe Powis, Patrick Calvas, Jennifer A. Sullivan, Fabiola Ceroni, Constance Smith-Hicks, Emanuele Bellacchio, Kristina Pilekær Sørensen, Rodrigo M. Young, Christina Fagerberg, Alessandro De Luca, Ellen van Binsbergen, Luigi Memo, William B. Dobyns, Anna Chassevent, Berta Crespo, Richard J. Holt
Publikováno v:
Holt, R J, Young, R M, Crespo, B, Ceroni, F, Curry, C J, Bellacchio, E, Bax, D A, Ciolfi, A, Simon, M, Fagerberg, C R, van Binsbergen, E, De Luca, A, Memo, L, Dobyns, W B, Mohammed, A A, Clokie, S J H, Zazo Seco, C, Jiang, Y H, Sørensen, K P, Andersen, H, Sullivan, J, Powis, Z, Chassevent, A, Smith-Hicks, C, Petrovski, S, Antoniadi, T, Shashi, V, Gelb, B D, Wilson, S W, Gerrelli, D, Tartaglia, M, Chassaing, N, Calvas, P & Ragge, N K 2019, ' De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies ', American Journal of Human Genetics, vol. 105, no. 3, pp. 640-657 . https://doi.org/10.1016/j.ajhg.2019.07.005
American Journal of Human Genetics
American Journal of Human Genetics
The identification of genetic variants implicated in human developmental disorders has been revolutionized by second-generation sequencing combined with international pooling of cases. Here, we describe seven individuals who have diverse yet overlapp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1ac6035c7582657339b72496940ad80
https://findresearcher.sdu.dk:8443/ws/files/153983581/De_Novo_Missense_Variants_in_FBXW11_Cause_Diverse_Developmental_Phenotypes_Including_Brain_Eye_and_Digit_Anomalies.pdf
https://findresearcher.sdu.dk:8443/ws/files/153983581/De_Novo_Missense_Variants_in_FBXW11_Cause_Diverse_Developmental_Phenotypes_Including_Brain_Eye_and_Digit_Anomalies.pdf
Autor:
Rajni Chibbar, Ganeshwaran H. Mochida, A. James Barkovich, Ulrich Tschulena, Jun Shen, R. Sean Hill, Gilad D. Evrony, Antonella Galli, Chloe Santos, Danielle Tierney, Sheldon Wiebe, M. Jocelyne Martel, Christopher A. Walsh, Jillian M. Richardson, Divya Jayaraman, Betty Anne Spooner, Patricia Blakley, Steven C. Ryu, Stefan Wiemann, Dianne Gerrelli, Dana Diudea, Michael E. Coulter, Timothy W. Yu, James Irvine, Edmond G. Lemire, Victoria Morrison, Rebecca D. Folkerth, Princess C. Elhosary, Diana G. Diaz, Anh Thu N. Lam, Rachel E. Rodin, Dwight R. Cordero, Christopher A. Robinson, Jennifer N. Partlow
Publikováno v:
Genome Research. 27:1323-1335
While next-generation sequencing has accelerated the discovery of human disease genes, progress has been largely limited to the “low hanging fruit” of mutations with obvious exonic coding or canonical splice site impact. In contrast, the lack of
Autor:
Y. Zhang, J. Bruty, Suzanne Broadgate, Dianne Gerrelli, R. Dunn, Yvonne Wallis, Richard J. Holt, Alexander W. Wyatt, Dorine Bax, Nicola K. Ragge, C. Ogilvie, Dominic J. McMullan, D. Gold Diaz, S. A. Ugur Iseri, Chloe Santos
Publikováno v:
Human Genetics. 136:119-127
Anophthalmia, microphthalmia, and coloboma are a genetically heterogeneous spectrum of developmental eye disorders and affect around 30 per 100,000 live births. OLFM2 encodes a secreted glycoprotein belonging to the noelin family of olfactomedin doma
Autor:
Paula Alexandre, Debora Kidron, Evelina Silvestri, Patrick R. Hof, Dianne Gerrelli, Lynne M. Overman, Parthiv Haldipur, Susan Lindsay, William B. Dobyns, Ferechté Razavi, Lucia Manganaro, Silvia Bernardo, Fabien Guilmiot, Kimberly A. Aldinger, Mei Deng, Kathleen J. Millen, Rosa Russo, Steven Lisgo, Andrew E. Timms, Conrad Winter, Ian A. Glass, Homa Adle-Biasette
Publikováno v:
Science (New York, N.Y.). 366(6464)
Close-up of human cerebellar development Early on, cerebellar development shares similarities across humans, nonhuman primates, and even mice. But differences emerge while development progresses, as cellular and molecular analyses by Haldipur et al.
Autor:
Chloe Santos, Nita Solanky, Dianne Gerrelli, Anna C. Thomas, Magalie E. Carey, Pauline Heux, Heather C. Etchevers, Veronica A. Kinsler, Wisenave Arulvasan
Publikováno v:
Birth Defects Research
Birth Defects Research, Wiley, 2018, 110 (5), pp.443-455. ⟨10.1002/bdr2.1183⟩
Birth Defects Research, Wiley, 2018, 110 (5), pp.443-455. ⟨10.1002/bdr2.1183⟩
BackgroundMC1R, a G-protein coupled receptor with high affinity for alpha-melanocyte stimulating hormone (αMSH), modulates pigment production in melanocytes from many species and is associated with human melanoma risk.MC1Rmutations affecting human s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a93c7b4fab72b9a1b63141ed4aa3a692
https://hal-amu.archives-ouvertes.fr/hal-01847993/document
https://hal-amu.archives-ouvertes.fr/hal-01847993/document
Autor:
Martino Barenco, Ignacio del Valle, Dianne Gerrelli, Federica Buonocore, Sonia Shah, Rahul Parnaik, Mike Hubank, John C. Achermann, Andrew J. Duncan, Lin Lin
Publikováno v:
Wellcome Open Research
Background: In humans, the adrenal glands and gonads undergo distinct biological events between 6-10 weeks post conception (wpc), such as testis determination, the onset of steroidogenesis and primordial germ cell development. However, relatively lit