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

Unregulated Active and Closed Textile Mills Represent a Significant Vector of PFAS Contamination into Coastal Rivers

不受监管的在产和已关闭的纺织厂是PFAS污染沿海河流的重要途径。

Dunn, Matthew; Noons, Nicholas; Vojta, Simon; Becanova, Jitka; Pickard, Heidi; Sunderland, Elsie M; Lohmann, Rainer

Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis

重新评估关联性:RUNX2多聚丙氨酸缺失变异体与非综合征性矢状缝和额缝早闭症的评估

Walton, Isaac S; McCann, Emma; Weber, Astrid; Morton, Jenny E V; Noons, Peter; Wilson, Louise C; Ching, Rosanna C; Cilliers, Deirdre; Johnson, David; Phipps, Julie M; Shears, Deborah J; Thomas, Gregory P L; Wall, Steven A; Twigg, Stephen R F; Wilkie, Andrew O M

Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits

SEM1-DLX5-DLX6 (7q21.3) 基因座中的调控元件参与冠状非综合征性颅缝早闭和骨密度相关性状的遗传控制。

Nicoletti, Paola; Zafer, Samreen; Matok, Lital; Irron, Inbar; Patrick, Meidva; Haklai, Rotem; Evangelista, John Erol; Marino, Giacomo B; Ma'ayan, Avi; Sewda, Anshuman; Holmes, Greg; Britton, Sierra R; Lee, Won Jun; Wu, Meng; Ru, Ying; Arnaud, Eric; Botto, Lorenzo; Brody, Lawrence C; Byren, Jo C; Caggana, Michele; Carmichael, Suzan L; Cilliers, Deirdre; Conway, Kristin; Crawford, Karen; Cuellar, Araceli; Di Rocco, Federico; Engel, Michael; Fearon, Jeffrey; Feldkamp, Marcia L; Finnell, Richard; Fisher, Sarah; Freudlsperger, Christian; Garcia-Fructuoso, Gemma; Hagge, Rhinda; Heuzé, Yann; Harshbarger, Raymond J; Hobbs, Charlotte; Howley, Meredith; Jenkins, Mary M; Johnson, David; Justice, Cristina M; Kane, Alex; Kay, Denise; Gosain, Arun Kumar; Langlois, Peter; Legal-Mallet, Laurence; Lin, Angela E; Mills, James L; Morton, Jenny E V; Noons, Peter; Olshan, Andrew; Persing, John; Phipps, Julie M; Redett, Richard; Reefhuis, Jennita; Rizk, Elias; Samson, Thomas D; Shaw, Gary M; Sicko, Robert; Smith, Nataliya; Staffenberg, David; Stoler, Joan; Sweeney, Elizabeth; Taub, Peter J; Timberlake, Andrew T; Topczewska, Jolanta; Wall, Steven A; Wilson, Alexander F; Wilson, Louise C; Boyadjiev, Simeon A; Wilkie, Andrew O M; Richtsmeier, Joan T; Jabs, Ethylin Wang; Romitti, Paul A; Karasik, David; Birnbaum, Ramon Y; Peter, Inga

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance

成对相关同源框1基因(PRRX1)的致病性变异会导致颅缝早闭,且外显率不完全。

Tooze, Rebecca S; Miller, Kerry A; Swagemakers, Sigrid M A; Calpena, Eduardo; McGowan, Simon J; Boute, Odile; Collet, Corinne; Johnson, David; Laffargue, Fanny; de Leeuw, Nicole; Morton, Jenny V; Noons, Peter; Ockeloen, Charlotte W; Phipps, Julie M; Tan, Tiong Yang; Timberlake, Andrew T; Vanlerberghe, Clemence; Wall, Steven A; Weber, Astrid; Wilson, Louise C; Zackai, Elaine H; Mathijssen, Irene M J; Twigg, Stephen R F; Wilkie, Andrew O M

A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis

全基因组关联研究表明 BMP7 基因座是非综合征性额缝早闭的风险因素

Cristina M Justice, Araceli Cuellar, Krithi Bala, Jeremy A Sabourin, Michael L Cunningham, Karen Crawford, Julie M Phipps, Yan Zhou, Deirdre Cilliers, Jo C Byren, David Johnson, Steven A Wall, Jenny E V Morton, Peter Noons, Elizabeth Sweeney, Astrid Weber, Katie E M Rees, Louise C Wilson, Emil Simeo

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome

ERF相关性颅缝早闭:一种新型颅缝早闭综合征的表型和发育特征

Glass, Graeme E; O'Hara, Justine; Canham, Natalie; Cilliers, Deirdre; Dunaway, David; Fenwick, Aimee L; Jeelani, Noor-Owase; Johnson, David; Lester, Tracy; Lord, Helen; Morton, Jenny E V; Nishikawa, Hiroshi; Noons, Peter; Schwiebert, Kemmy; Shipster, Caroleen; Taylor-Beadling, Alison; Twigg, Stephen R F; Vasudevan, Pradeep; Wall, Steven A; Wilkie, Andrew O M; Wilson, Louise C