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

Missense Variant Met119Val in ACTB in a Patient with Baraitser-Winter Syndrome Type 1 and Mild Intellectual Disability

一名患有巴雷特瑟-温特综合征1型和轻度智力障碍的患者,其ACTB基因中存在Met119Val错义变异

Zechi-Ceide, Roseli Maria; Serigatto, Henrique Regonaschi; Galvanin, Ana Laura; Rafacho, Marina Bigeli; Kokitsu-Nakata, Nancy Mizue; Guion-Almeida, Maria Leine; Di Donato, Nataliya

Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose

从先天性无鼻患者身上深入了解GnRH神经元的个体发育

Delaney, Angela; Volochayev, Rita; Meader, Brooke; Lee, Janice; Almpani, Konstantinia; Noukelak, Germaine Y; Henkind, Jennifer; Chalmers, Laura; Law, Jennifer R; Williamson, Kathleen A; Jacobsen, Christina M; Buitrago, Tatiana Pineda; Perez, Orlando; Cho, Chie-Hee; Kaindl, Angela; Rauch, Anita; Steindl, Katharina; Garcia, Jose Elias; Russell, Bianca E; Prasad, Rameshwar; Mondal, Uttam K; Reigstad, Hallvard M; Clements, Scott; Kim, Susan; Inoue, Kaoru; Arora, Gazal; Salnikov, Kathryn B; DiOrio, Nicole P; Prada, Rolando; Capri, Yline; Morioka, Kosuke; Mizota, Michiyo; Zechi-Ceide, Roseli M; Kokitsu-Nakata, Nancy M; Tonello, Cristiano; Vendramini-Pittoli, Siulan; da Silva Dalben, Gisele; Balasubramanian, Ravikumar; Dwyer, Andrew A; Seminara, Stephanie B; Crowley, William F; Plummer, Lacey; Hall, Janet E; Graham, John M; Lin, Angela E; Shaw, Natalie D

Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development

EIF4A3 5' 非翻译区的复杂性是颅面和神经发育的关键因素

Gabriella S P Hsia, Camila M Musso, Lucas Alvizi, Luciano A Brito, Gerson S Kobayashi, Rita C M Pavanello, Mayana Zatz, Alice Gardham, Emma Wakeling, Roseli M Zechi-Ceide, Debora Bertola, Maria Rita Passos-Bueno

EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome

EIF4A3 缺陷的人类 iPSC 和小鼠模型表现出神经嵴缺陷,这是 Richieri-Costa-Pereira 综合征的根本原因

Emily E Miller, Gerson S Kobayashi, Camila M Musso, Miranda Allen, Felipe A A Ishiy, Luiz Carlos de Caires Jr, Ernesto Goulart, Karina Griesi-Oliveira, Roseli M Zechi-Ceide, Antonio Richieri-Costa, Debora R Bertola, Maria Rita Passos-Bueno, Debra L Silver

Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings

PTCH1基因突变患者的多系统受累:临床和影像学表现

Richieri-Costa, Antonio; Vendramini-Pittoli, Siulan; Kokitsu-Nakata, Nancy Mizue; Zechi-Ceide, Roseli Maria; Alvarez, Camila Wenceslau; Ribeiro-Bicudo, Lucilene Arilho

Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability

1q21.1间质微缺失与严重的骨骼异常、面部畸形和中度智力障碍相关

Gamba, Bruno F; Zechi-Ceide, Roseli M; Kokitsu-Nakata, Nancy M; Vendramini-Pittoli, Siulan; Rosenberg, Carla; Krepischi Santos, Ana C V; Ribeiro-Bicudo, Lucilene; Richieri-Costa, Antonio

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

内皮素受体A型基因突变会导致下颌面骨发育不全伴脱发

Christopher T Gordon ,K Nicole Weaver ,Roseli Maria Zechi-Ceide ,Erik C Madsen ,Andre L P Tavares ,Myriam Oufadem ,Yukiko Kurihara ,Igor Adameyko ,Arnaud Picard ,Sylvain Breton ,Sébastien Pierrot ,Martin Biosse-Duplan ,Norine Voisin ,Cécile Masson ,Christine Bole-Feysot ,Patrick Nitschké ,Marie-Ange Delrue ,Didier Lacombe ,Maria Leine Guion-Almeida ,Priscila Padilha Moura ,Daniela Gamba Garib ,Arnold Munnich ,Patrik Ernfors ,Robert B Hufnagel ,Robert J Hopkin ,Hiroki Kurihara ,Howard M Saal ,David D Weaver ,Nicholas Katsanis ,Stanislas Lyonnet ,Christelle Golzio ,David E Clouthier ,Jeanne Amiel

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

与耳廓髁综合征相关的GNAI3新变异增强了一种常见的显性负效应。

Romanelli Tavares, Vanessa L; Gordon, Christopher T; Zechi-Ceide, Roseli M; Kokitsu-Nakata, Nancy Mizue; Voisin, Norine; Tan, Tiong Y; Heggie, Andrew A; Vendramini-Pittoli, Siulan; Propst, Evan J; Papsin, Blake C; Torres, Tatiana T; Buermans, Henk; Capelo, Luciane Portas; den Dunnen, Johan T; Guion-Almeida, Maria L; Lyonnet, Stanislas; Amiel, Jeanne; Passos-Bueno, Maria Rita

A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects

EIF4A3基因的非编码扩增会导致Richieri-Costa-Pereira综合征,这是一种与肢体缺陷相关的颅面畸形。

Favaro, Francine P; Alvizi, Lucas; Zechi-Ceide, Roseli M; Bertola, Debora; Felix, Temis M; de Souza, Josiane; Raskin, Salmo; Twigg, Stephen R F; Weiner, Andrea M J; Armas, Pablo; Margarit, Ezequiel; Calcaterra, Nora B; Andersen, Gregers R; McGowan, Simon J; Wilkie, Andrew O M; Richieri-Costa, Antonio; de Almeida, Maria L G; Passos-Bueno, Maria Rita

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

内皮素1基因突变会导致隐性耳廓髁综合征和显性孤立性问号耳。

Christopher T Gordon ,Florence Petit, Peter M Kroisel, Linda Jakobsen, Roseli Maria Zechi-Ceide, Myriam Oufadem, Christine Bole-Feysot, Solenn Pruvost, Cécile Masson, Frédéric Tores, Thierry Hieu, Patrick Nitschké, Pernille Lindholm, Philippe Pellerin, Maria Leine Guion-Almeida, Nancy Mizue Kokitsu-Nakata, Siulan Vendramini-Pittoli, Arnold Munnich, Stanislas Lyonnet, Muriel Holder-Espinasse, Jeanne Amiel