日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development

早期人类胎儿和胎盘发育过程中X单体(45,X)的转录组图谱

Suntharalingham, Jenifer P; Del Valle, Ignacio; Buonocore, Federica; McGlacken-Byrne, Sinead M; Brooks, Tony; Ogunbiyi, Olumide K; Liptrot, Danielle; Dunton, Nathan; Madhan, Gaganjit K; Metcalfe, Kate; Nel, Lydia; Marshall, Abigail R; Ishida, Miho; Sebire, Neil J; Moore, Gudrun E; Crespo, Berta; Solanky, Nita; Conway, Gerard S; Achermann, John C

Tissue- and ethnicity-independent hypervariable DNA methylation states show evidence of establishment in the early human embryo

与组织和种族无关的高变DNA甲基化状态显示出在早期人类胚胎中建立的证据

Derakhshan, Maria; Kessler, Noah J; Ishida, Miho; Demetriou, Charalambos; Brucato, Nicolas; Moore, Gudrun E; Fall, Caroline H D; Chandak, Giriraj R; Ricaut, Francois-Xavier; Prentice, Andrew M; Hellenthal, Garrett; Silver, Matt J

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome

与SAMD9基因变异相关的表型和MIRAGE综合征

Suntharalingham, Jenifer P; Ishida, Miho; Del Valle, Ignacio; Stalman, Susanne E; Solanky, Nita; Wakeling, Emma; Moore, Gudrun E; Achermann, John C; Buonocore, Federica

Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity

罕见拷贝数变异为生长激素和胰岛素样生长因子-1不敏感的分子基础提供了新的见解

Cottrell, Emily; Cabrera, Claudia P; Ishida, Miho; Chatterjee, Sumana; Greening, James; Wright, Neil; Bossowski, Artur; Dunkel, Leo; Deeb, Asma; Basiri, Iman Al; Rose, Stephen J; Mason, Avril; Bint, Susan; Ahn, Joo Wook; Hwa, Vivian; Metherell, Louise A; Moore, Gudrun E; Storr, Helen L

Analysis of CDKN1C in fetal growth restriction and pregnancy loss

CDKN1C在胎儿生长受限和妊娠丢失中的作用分析

Suntharalingham, Jenifer P; Ishida, Miho; Buonocore, Federica; Del Valle, Ignacio; Solanky, Nita; Demetriou, Charalambos; Regan, Lesley; Moore, Gudrun E; Achermann, John C

Enrichment of Clinically Relevant Organisms in Spontaneous Preterm-Delivered Placentas and Reagent Contamination across All Clinical Groups in a Large Pregnancy Cohort in the United Kingdom

英国一项大型妊娠队列研究中,自发性早产胎盘中临床相关微生物的富集以及所有临床组的试剂污染情况

Leon, Lydia J; Doyle, Ronan; Diez-Benavente, Ernest; Clark, Taane G; Klein, Nigel; Stanier, Philip; Moore, Gudrun E

Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate

GRHL3编码区测序揭示罕见的截断突变和非综合征型腭裂的常见易感变异

Mangold, Elisabeth; Böhmer, Anne C; Ishorst, Nina; Hoebel, Ann-Kathrin; Gültepe, Pinar; Schuenke, Hannah; Klamt, Johanna; Hofmann, Andrea; Gölz, Lina; Raff, Ruth; Tessmann, Peter; Nowak, Stefanie; Reutter, Heiko; Hemprich, Alexander; Kreusch, Thomas; Kramer, Franz-Josef; Braumann, Bert; Reich, Rudolf; Schmidt, Gül; Jäger, Andreas; Reiter, Rudolf; Brosch, Sibylle; Stavusis, Janis; Ishida, Miho; Seselgyte, Rimante; Moore, Gudrun E; Nöthen, Markus M; Borck, Guntram; Aldhorae, Khalid A; Lace, Baiba; Stanier, Philip; Knapp, Michael; Ludwig, Kerstin U

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

SNX14基因突变会导致一种独特的常染色体隐性遗传性小脑共济失调和智力障碍综合征

Zhu, Xiaofeng; Feng, Tao; Tayo, Bamidele O; Liang, Jingjing; Young, J Hunter; Franceschini, Nora; Smith, Jennifer A; Yanek, Lisa R; Sun, Yan V; Edwards, Todd L; Chen, Wei; Nalls, Mike; Fox, Ervin; Sale, Michele; Bottinger, Erwin; Rotimi, Charles; Liu, Yongmei; McKnight, Barbara; Liu, Kiang; Arnett, Donna K; Chakravati, Aravinda; Cooper, Richard S; Redline, Susan; Garber, Kathryn B; Ratzel, Sarah; Cullinan, Sara B; Hansen, Jeanne; Snow, Chelsi; Tuttle, Emily; Ghoneim, Dalia H; Yang, Chun-Song; Spencer, Adam; Gunter, Sonya A; Smyser, Christopher D; Gurnett, Christina A; Shinawi, Marwan; Dobyns, William B; Wheless, James; Halterman, Marc W; Jansen, Laura A; Paschal, Bryce M; Paciorkowski, Alex R; Thomas, Anna C; Williams, Hywel; Setó-Salvia, Núria; Bacchelli, Chiara; Jenkins, Dagan; O’Sullivan, Mary; Mengrelis, Konstantinos; Ishida, Miho; Ocaka, Louise; Chanudet, Estelle; James, Chela; Lescai, Francesco; Anderson, Glenn; Morrogh, Deborah; Ryten, Mina; Duncan, Andrew J; Pai, Yun Jin; Saraiva, Jorge M; Ramos, Fabiana; Farren, Bernadette; Saunders, Dawn; Vernay, Bertrand; Gissen, Paul; Straatmaan-Iwanowska, Anna; Baas, Frank; Wood, Nicholas W; Hersheson, Joshua; Houlden, Henry; Hurst, Jane; Scott, Richard; Bitner-Glindzicz, Maria; Moore, Gudrun E; Sousa, Sérgio B; Stanier, Philip

The role and interaction of imprinted genes in human fetal growth

印记基因在人类胎儿生长中的作用和相互作用

Moore, Gudrun E; Ishida, Miho; Demetriou, Charalambos; Al-Olabi, Lara; Leon, Lydia J; Thomas, Anna C; Abu-Amero, Sayeda; Frost, Jennifer M; Stafford, Jaime L; Chaoqun, Yao; Duncan, Andrew J; Baigel, Rachel; Brimioulle, Marina; Iglesias-Platas, Isabel; Apostolidou, Sophia; Aggarwal, Reena; Whittaker, John C; Syngelaki, Argyro; Nicolaides, Kypros H; Regan, Lesley; Monk, David; Stanier, Philip

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome

SNX14基因突变会导致一种独特的常染色体隐性遗传性小脑共济失调和智力障碍综合征。

Thomas, Anna C; Williams, Hywel; Setó-Salvia, Núria; Bacchelli, Chiara; Jenkins, Dagan; O'Sullivan, Mary; Mengrelis, Konstantinos; Ishida, Miho; Ocaka, Louise; Chanudet, Estelle; James, Chela; Lescai, Francesco; Anderson, Glenn; Morrogh, Deborah; Ryten, Mina; Duncan, Andrew J; Pai, Yun Jin; Saraiva, Jorge M; Ramos, Fabiana; Farren, Bernadette; Saunders, Dawn; Vernay, Bertrand; Gissen, Paul; Straatmaan-Iwanowska, Anna; Baas, Frank; Wood, Nicholas W; Hersheson, Joshua; Houlden, Henry; Hurst, Jane; Scott, Richard; Bitner-Glindzicz, Maria; Moore, Gudrun E; Sousa, Sérgio B; Stanier, Philip