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

Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428

全基因组测序发现非综合征性矢状缝早闭与BMP2基因间区和非编码RNA基因LINC01428相关

Musolf, Anthony M; Justice, Cristina M; Erdogan-Yildirim, Zeynep; Goovaerts, Seppe; Cuellar, Araceli; Shaffer, John R; Marazita, Mary L; Claes, Peter; Weinberg, Seth M; Li, Jae; Senders, Craig; Zwienenberg, Marike; Simeonov, Emil; Kaneva, Radka; Roscioli, Tony; Di Pietro, Lorena; Barba, Marta; Lattanzi, Wanda; Cunningham, Michael L; Romitti, Paul A; Boyadjiev, Simeon A

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

Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

更正:SMAD6 变异与颅缝早闭:基因型和表型评估

Calpena, Eduardo; Cuellar, Araceli; Bala, Krithi; Swagemakers, Sigrid M A; Koelling, Nils; McGowan, Simon J; Phipps, Julie M; Balasubramanian, Meena; Cunningham, Michael L; Douzgou, Sofia; Lattanzi, Wanda; Morton, Jenny E V; Shears, Deborah; Weber, Astrid; Wilson, Louise C; Lord, Helen; Lester, Tracy; Johnson, David; Wall, Steven A; Twigg, Stephen R F; Mathijssen, Irene M J; Boardman-Pretty, Freya; Boyadjiev, Simeon A; Wilkie, Andrew O M

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

SMAD6 变异与颅缝早闭:基因型和表型评估

Calpena, Eduardo; Cuellar, Araceli; Bala, Krithi; Swagemakers, Sigrid M A; Koelling, Nils; McGowan, Simon J; Phipps, Julie M; Balasubramanian, Meena; Cunningham, Michael L; Douzgou, Sofia; Lattanzi, Wanda; Morton, Jenny E V; Shears, Deborah; Weber, Astrid; Wilson, Louise C; Lord, Helen; Lester, Tracy; Johnson, David; Wall, Steven A; Twigg, Stephen R F; Mathijssen, Irene M J; Boardman-Pretty, Freya; Boyadjiev, Simeon A; Wilkie, Andrew O M

Immunohistochemical Localization of Bone Morphogenetic Proteins (BMPs) and their Receptors in Solitary and Multiple Human Osteochondromas.

免疫组织化学定位单发和多发性人类骨软骨瘤中的骨形态发生蛋白(BMP)及其受体

Cuellar Araceli, Inui Atsuyuki, James Michelle A, Borys Dariusz, Reddi A Hari

Cell biology of osteochondromas: bone morphogenic protein signalling and heparan sulphates

骨软骨瘤的细胞生物学:骨形态发生蛋白信号传导和硫酸乙酰肝素

Cuellar, Araceli; Reddi, A Hari