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

Whole exome sequencing identifies novel predisposing genes in neural tube defects

全外显子组测序鉴定出神经管缺陷的新易感基因

Lemay, Philippe; De Marco, Patrizia; Traverso, Monica; Merello, Elisa; Dionne-Laporte, Alexandre; Spiegelman, Dan; Henrion, Édouard; Diallo, Ousmane; Audibert, François; Michaud, Jacques L; Cama, Armando; Rouleau, Guy A; Kibar, Zoha; Capra, Valeria

Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development

对两个患有非孤立性I型小脑扁桃体下疝畸形的意大利家系进行外显子组测序,揭示了颅面发育的候选基因

Merello, Elisa; Tattini, Lorenzo; Magi, Alberto; Accogli, Andrea; Piatelli, Gianluca; Pavanello, Marco; Tortora, Domenico; Cama, Armando; Kibar, Zoha; Capra, Valeria; De Marco, Patrizia

Sacral agenesis: a pilot whole exome sequencing and copy number study

骶骨发育不全:一项全外显子组测序和拷贝数研究

Porsch, Robert M; Merello, Elisa; De Marco, Patrizia; Cheng, Guo; Rodriguez, Laura; So, Manting; Sham, Pak C; Tam, Paul K; Capra, Valeria; Cherny, Stacey S; Garcia-Barcelo, Maria-Mercè; Campbell, Desmond D

Cost effective assay choice for rare disease study designs

针对罕见病研究设计,选择经济有效的检测方法

Campbell, Desmond D; Porsch, Robert M; Cherny, Stacey S; Capra, Valeria; Merello, Elisa; De Marco, Patrizia; Sham, Pak C; Garcia-Barceló, Maria-Mercè

Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord

脊髓毛细胞型星形细胞瘤患儿22q11和15q26位点的染色体结构异常

Mascelli, Samantha; Severino, Mariasavina; Raso, Alessandro; Nozza, Paolo; Tassano, Elisa; Morana, Giovanni; De Marco, Patrizia; Merello, Elisa; Milanaccio, Claudia; Pavanello, Marco; Rossi, Andrea; Cama, Armando; Garrè, Maria Luisa; Capra, Valeria

Genetic analysis of disheveled 2 and disheveled 3 in human neural tube defects.

人类神经管缺陷中 Disheveled 2 和 Disheveled 3 的基因分析

De Marco Patrizia, Merello Elisa, Consales Alessandro, Piatelli Gianluca, Cama Armando, Kibar Zoha, Capra Valeria

FZD6 is a novel gene for human neural tube defects

FZD6 是人类神经管缺陷的一个新基因

De Marco, Patrizia; Merello, Elisa; Rossi, Andrea; Piatelli, Gianluca; Cama, Armando; Kibar, Zoha; Capra, Valeria

Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects

鉴定和表征人类神经管缺陷中平面细胞极性基因PRICKLE1的新型罕见突变

Bosoi, Ciprian M; Capra, Valeria; Allache, Redouane; Trinh, Vincent Quoc-Huy; De Marco, Patrizia; Merello, Elisa; Drapeau, Pierre; Bassuk, Alexander G; Kibar, Zoha

VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish

与神经管缺陷相关的VANGL1罕见变异会影响斑马鱼的趋同延伸。

Reynolds, Annie; McDearmid, Jonathan R; Lachance, Stephanie; De Marco, Patrizia; Merello, Elisa; Capra, Valeria; Gros, Philippe; Drapeau, Pierre; Kibar, Zoha

Novel mutations in VANGL1 in neural tube defects

VANGL1基因的新突变导致神经管缺陷

Kibar, Zoha; Bosoi, Ciprian M; Kooistra, Megan; Salem, Sandra; Finnell, Richard H; De Marco, Patrizia; Merello, Elisa; Bassuk, Alexander G; Capra, Valeria; Gros, Philippe