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

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome

ROR2相关Robinow综合征的表型和突变谱

Lima, Ariadne R; Ferreira, Barbara M; Zhang, Chaofan; Jolly, Angad; Du, Haowei; White, Janson J; Dawood, Moez; Lins, Tulio C; Chiabai, Marcela A; van Beusekom, Ellen; Cordoba, Mara S; Caldas Rosa, Erica C C; Kayserili, Hulya; Kimonis, Virginia; Wu, Erica; Mellado, Cecilia; Aggarwal, Vineet; Richieri-Costa, Antonio; Brunoni, Décio; Canó, Talyta M; Jorge, Alexander A L; Kim, Chong A; Honjo, Rachel; Bertola, Débora R; Dandalo-Girardi, Raissa M; Bayram, Yavuz; Gezdirici, Alper; Yilmaz-Gulec, Elif; Gumus, Evren; Yilmaz, Gülay C; Okamoto, Nobuhiko; Ohashi, Hirofumi; Coban-Akdemir, Zeynep; Mitani, Tadahiro; Jhangiani, Shalini N; Muzny, Donna M; Regattieri, Neysa A P; Pogue, Robert; Pereira, Rinaldo W; Otto, Paulo A; Gibbs, Richard A; Ali, Bassam R; van Bokhoven, Hans; Brunner, Han G; Sutton, V Reid; Lupski, James R; Vianna-Morgante, Angela M; Carvalho, Claudia M B; Mazzeu, Juliana F

Turner syndrome in diverse populations

不同人群中的特纳综合征

Kruszka, Paul; Addissie, Yonit A; Tekendo-Ngongang, Cedrik; Jones, Kelly L; Savage, Sarah K; Gupta, Neerja; Sirisena, Nirmala D; Dissanayake, Vajira H W; Paththinige, C Sampath; Aravena, Teresa; Nampoothiri, Sheela; Yesodharan, Dhanya; Girisha, Katta M; Patil, Siddaramappa Jagdish; Jamuar, Saumya Shekhar; Goh, Jasmine Chew-Yin; Utari, Agustini; Sihombing, Nydia; Mishra, Rupesh; Chitrakar, Neer Shoba; Iriele, Brenda C; Lulseged, Ezana; Megarbane, Andre; Uwineza, Annette; Oyenusi, Elizabeth Eberechi; Olopade, Oluwarotimi Bolaji; Fasanmade, Olufemi Adetola; Duenas-Roque, Milagros M; Thong, Meow-Keong; Tung, Joanna Y L; Mok, Gary T K; Fleischer, Nicole; Rwegerera, Godfrey M; de Herreros, María Beatriz; Watts, Johnathan; Fieggen, Karen; Huckstadt, Victoria; Moresco, Angélica; Obregon, María Gabriela; Hussen, Dalia Farouk; Ashaat, Neveen A; Ashaat, Engy A; Chung, Brian H Y; Badoe, Eben; Faradz, Sultana M H; El Ruby, Mona O; Shotelersuk, Vorasuk; Wonkam, Ambroise; Ekure, Ekanem Nsikak; Phadke, Shubha R; Richieri-Costa, Antonio; Muenke, Maximilian

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

Noonan syndrome in diverse populations

不同人群中的努南综合征

Kruszka, Paul; Porras, Antonio R; Addissie, Yonit A; Moresco, Angélica; Medrano, Sofia; Mok, Gary T K; Leung, Gordon K C; Tekendo-Ngongang, Cedrik; Uwineza, Annette; Thong, Meow-Keong; Muthukumarasamy, Premala; Honey, Engela; Ekure, Ekanem N; Sokunbi, Ogochukwu J; Kalu, Nnenna; Jones, Kelly L; Kaplan, Julie D; Abdul-Rahman, Omar A; Vincent, Lisa M; Love, Amber; Belhassan, Khadija; Ouldim, Karim; El Bouchikhi, Ihssane; Shukla, Anju; Girisha, Katta M; Patil, Siddaramappa J; Sirisena, Nirmala D; Dissanayake, Vajira H W; Paththinige, C Sampath; Mishra, Rupesh; Klein-Zighelboim, Eva; Gallardo Jugo, Bertha E; Chávez Pastor, Miguel; Abarca-Barriga, Hugo H; Skinner, Steven A; Prijoles, Eloise J; Badoe, Eben; Gill, Ashleigh D; Shotelersuk, Vorasuk; Smpokou, Patroula; Kisling, Monisha S; Ferreira, Carlos R; Mutesa, Leon; Megarbane, Andre; Kline, Antonie D; Kimball, Amy; Okello, Emmy; Lwabi, Peter; Aliku, Twalib; Tenywa, Emmanuel; Boonchooduang, Nonglak; Tanpaiboon, Pranoot; Richieri-Costa, Antonio; Wonkam, Ambroise; Chung, Brian H Y; Stevenson, Roger E; Summar, Marshall; Mandal, Kausik; Phadke, Shubha R; Obregon, María G; Linguraru, Marius G; Muenke, Maximilian

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

Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome

FGFR1 基因中显性负性激酶结构域突变可以解释哈茨菲尔德综合征的临床严重程度。

Hong, Sungkook; Hu, Ping; Marino, Juliana; Hufnagel, Sophia B; Hopkin, Robert J; Toromanović, Alma; Richieri-Costa, Antonio; Ribeiro-Bicudo, Lucilene A; Kruszka, Paul; Roessler, Erich; Muenke, Maximilian

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

Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14

一名男孩患有唇腭裂、身材矮小和发育迟缓,其10p15.3p14区域存在5.6mb的间质缺失。

Gamba, Bruno F; Rosenberg, Carla; Costa, Silvia; Richieri-Costa, Antonio; Ribeiro-Bicudo, Lucilene A

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

Cognitive deficit, learning difficulties, severe behavioral abnormalities and healed cleft lip in a patient with a 1.2-mb distal microduplication at 22q11.2

一名22q11.2远端微重复1.2mb的患者出现认知缺陷、学习困难、严重行为异常和已愈合的唇裂。

Ribeiro-Bicudo, L A; de Campos Legnaro, C; Gamba, B F; Candido Sandri, R M; Richieri-Costa, A