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

Is 7p14.1 an orofacial cleft risk locus? Genome-wide study of copy number variation in multiple populations provides both a replication of previous studies and an alternative explanation

7p14.1是唇腭裂风险位点吗?对多个群体拷贝数变异的全基因组研究既重复了之前的研究结果,也提供了一种新的解释。

Mukhopadhyay, Nandita; Feingold, Eleanor E; Brand, Harrison; Lee, Myoung Keun; Kurtas, Edibe Nehir; Sanchis-Juan, Alba; Moreno-Uribe, Lina; Wehby, George; Valencia-Ramirez, Luz Consuelo; Muñeton, Claudia P Restrepo; Padilla, Carmencita; Deleyiannis, Frederic; Poletta, Fernando A; Orioli, Ieda M; Hecht, Jacqueline T; Buxó, Carmen J; Butali, Azeez; Adeyemo, Wasiu L; Abebe, Mekonen Eshete; Vieira, Alexandre R; Shaffer, John R; Murray, Jeffrey C; Weinberg, Seth M; Ruczinski, Ingo; Leslie-Clarkson, Elizabeth J; Marazita, Mary L

Trio-based GWAS reveals novel loci associated with different forms of isolated cleft lip

基于三联体的全基因组关联研究揭示了与不同类型孤立性唇裂相关的新基因位点

Herrick, Noah; Erdogan-Yildirim, Zeynep; Lee, Myoung Keun; Curtis, Sarah W; Berke, Seth; Brewer, Grace; McHenry, Toby; El Sergani, Ahmed M; Anderton, Joel; Mukhopadhyay, Nandita; Carlson, Jenna C; Beaty, Terri; Butali, Azeez; Buxo-Martinez, Carmen J; Hecht, Jacqueline T; Liao, Eric; Moreno Uribe, Lina M; Padilla, Carmencita D; Wehby, George; Feingold, Eleanor; Murray, Jeffrey C; Ruczinski, Ingo; Leslie-Clarkson, Elizabeth J; Weinberg, Seth M; Shaffer, John R; Marazita, Mary L

Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios

通过分析818个三联体中改变蛋白质的新生变异,区分综合征型和非综合征型腭裂。

Robinson, Kelsey R; Curtis, Sarah W; Paschall, Justin E; Adeyemo, Wasiu Lanre; Beaty, Terri H; Butali, Azeez; Buxó, Carmen J; Cutler, David J; Epstein, Michael P; Gowans, Lord J J; Hecht, Jacqueline T; Shaw, Gary M; Uribe, Lina Moreno; Murray, Jeffrey C; Brand, Harrison; Weinberg, Seth M; Marazita, Mary L; Doheny, Kimberly F; Leslie-Clarkson, Elizabeth J

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy

PRKCI 的罕见变异导致 Van der Woude 综合征和皮周病的其他特征

Robinson, Kelsey; Singh, Sunil K; Walkup, Rachel B; Fawwal, Dorelle V; Vilfort, Kendra M; Koloskee, Amanda; Fashina, Azeez; Adeyemo, Wasiu Lanre; Beaty, Terri H; Butali, Azeez; Buxó, Carmen J; Chung, Wendy K; Cutler, David J; Epstein, Michael P; Gasser, Brooklynn; Gowans, Lord J J; Hecht, Jacqueline T; Mankad, Anuj; Moreno Uribe, Lina; Scott, Daryl A; Shaw, Gary M; Thomas, Mary Ann; Weinberg, Seth M; Liao, Eric C; Brand, Harrison; Marazita, Mary L; Lipinski, Robert J; Murray, Jeffrey C; Cornell, Robert A; Leslie-Clarkson, Elizabeth J

Variants in CALD1, ESRP1, and RBFOX1 are associated with orofacial cleft risk

CALD1、ESRP1 和 RBFOX1 的变异与唇腭裂风险相关。

Carlson, Jenna C; Zhang, Xinyi; Erdogan-Yildirim, Zeynep; Beaty, Terri H; Butali, Azeez; Buxó, Carmen J; Gowans, Lord J J; Hecht, Jacqueline T; Long, Ross E; Moreno, Lina; Murray, Jeffrey C; Orioli, Ieda M; Padilla, Carmencita; Wehby, George L; Feingold, Eleanor; Leslie-Clarkson, Elizabeth J; Weinberg, Seth M; Marazita, Mary L; Shaffer, John R

CurQ+ With Resveratrol Diminish Joint Pain in a Child With Pseudoachondroplasia: A Case Report

CurQ+联合白藜芦醇可减轻假性软骨发育不全患儿的关节疼痛:病例报告

Hecht, Jacqueline T; Barreda-Bonis, Ana-Coral; Posey, Karen L

Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 816 trios

通过分析816个三联体中改变蛋白质的新生变异,区分综合征型和非综合征型腭裂。

Robinson, Kelsey R; Curtis, Sarah W; Paschall, Justin E; Beaty, Terri H; Butali, Azeez; Buxó, Carmen J; Cutler, David J; Epstein, Michael P; Hecht, Jacqueline T; Uribe, Lina Moreno; Shaw, Gary M; Murray, Jeffrey C; Brand, Harrison; Weinberg, Seth M; Marazita, Mary L; Doheny, Kimberly F; Leslie-Clarkson, Elizabeth J

Genome-wide study of gene-by-sex interactions identifies risks for cleft palate

全基因组基因-性别相互作用研究揭示腭裂风险

Robinson, Kelsey; Parrish, Randy; Adeyemo, Wasiu Lanre; Beaty, Terri H; Butali, Azeez; Buxó, Carmen J; Gowans, Lord J J; Hecht, Jacqueline T; Moreno Uribe, Lina; Murray, Jeffrey C; Shaw, Gary M; Weinberg, Seth M; Brand, Harrison; Marazita, Mary L; Cutler, David J; Epstein, Michael P; Yang, Jingjing; Leslie, Elizabeth J

Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting

临床基因组检测中发现的罕见变异揭示了唇腭裂的遗传和等位基因结构

Diaz Perez, Kimberly K; Curtis, Sarah W; Sanchis-Juan, Alba; Zhao, Xuefang; Head, Taylor; Ho, Samantha; Carter, Bridget; McHenry, Toby; Bishop, Madison R; Valencia-Ramirez, Luz C; Restrepo, Claudia; Hecht, Jacqueline T; Uribe, Lina M; Wehby, George; Weinberg, Seth M; Beaty, Terri H; Murray, Jeffrey C; Feingold, Eleanor; Marazita, Mary L; Cutler, David J; Epstein, Michael P; Brand, Harrison; Leslie, Elizabeth J

Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia

分娩方式不影响胎儿软骨发育不全妊娠的产后手术并发症发生率

Brar, Bobby K; Bober, Michael B; Gough, Ethan; Hashmi, S Shahrukh; Hecht, Jacqueline T; Dujmusic, Lorena; Little, Mary E; Modaff, Peggy; Pauli, Richard M; Rodriguez-Buritica, David F; Serna, Maria E; Smid, Cory; Legare, Janet M; Hoover-Fong, Julie E