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

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

DNA结合亲和力和特异性决定了BCL11B相关疾病的表型多样性

Lessel, Ivana; Baresic, Anja; Chinn, Ivan K; May, Jonathan; Goenka, Anu; Chandler, Kate E; Posey, Jennifer E; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; Calle-Martín, Oscar de la; Capra, Valeria; Cardenas, Paul; Chappé, Céline; Chong, Hey J; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christèle; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K; Gangi, Silvana; George-Abraham, Jaya K; Gucsavas-Calikoglu, Muge; Haack, Tobias B; Hadonou, Medard; Hanker, Britta; Hüning, Irina; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma; Jin, Jay J; Jorge, Alexander A L; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Kölbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M; Leppälä, Juha; Luu, Sharon M; Lyon, Gholson J; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K G; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R; Tolosa, Eva; Lessel, Davor

CDK4 loss-of-function mutations cause microcephaly and short stature.

CDK4 功能丧失突变会导致小头畸形和身材矮小

Verdu Schlie Aitana, Leitch Andrea, Arismendi Maria Izabel, Stok Colin, Castro Leal Andrea, Parry David A, Marcondes Lerario Antonio, Harley Margaret E, Lucheze Bruna, Carroll Paula L, Musialik Kamila I, Auer Julia M T, Martin Carol-Anne, Gerasimavicius Lukas, Quigley Alan J, de Menezes Correia-Deur Joya Emilie, Marsh Joseph A, Reijns Martin A M, Lampe Anne K, Jackson Andrew P, Jorge Alexander A L, Tamayo-Orrego Lukas

Deleterious variants in intolerant genes reveal new candidates for self-limited delayed puberty

不耐受基因中的有害变异揭示了自限性青春期延迟的新候选基因

Rezende, Raíssa C; He, Wen; Kaisinger, Lena R; Lerario, Antonio M; Schafer, Evan C; Kentistou, Katherine A; Barroso, Priscila S; Andrade, Nathalia L M; Dantas, Naiara C B; Costa, Elaine Maria F; Cellin, Laurana P; P S Quedas, Elisangela; Seminara, Stephanie B; Rey, Rodolfo A; Grinspon, Romina P; Meriq, Veronica; Ong, Ken K; Latronico, Ana Claudia; Perry, John R B; Howard, Sasha R; Chan, Yee-Ming; Jorge, Alexander A L

Exome sequencing of patients with syndromic tall stature reveals four novel candidate genes

对患有综合征性高大症的患者进行外显子组测序,发现了四个新的候选基因。

Kim, Gabriela Jeesoo; Vasco de Albuquerque Albuquerque, Edoarda; Rezende, Raissa C; De Polli Cellin, Laurana; Santillan Vasconez, Ana Maria; Krepischi, Ana C V; Santana, Lucas; Lerario, Antônio Marcondes; de Souza, Vinicius; Scalco, Renata; Jorge, Alexander A L

Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study

MECP2基因罕见变异与中枢性性早熟女孩的关系:一项转化队列研究

Canton, Ana P M; Tinano, Flávia R; Guasti, Leonardo; Montenegro, Luciana R; Ryan, Fiona; Shears, Deborah; de Melo, Maria Edna; Gomes, Larissa G; Piana, Mariana P; Brauner, Raja; Espino-Aguilar, Rafael; Escribano-Muñoz, Arancha; Paganoni, Alyssa; Read, Jordan E; Korbonits, Márta; Seraphim, Carlos E; Costa, Silvia S; Krepischi, Ana Cristina; Jorge, Alexander A L; David, Alessia; Kaisinger, Lena R; Ong, Ken K; Perry, John R B; Abreu, Ana Paula; Kaiser, Ursula B; Argente, Jesús; Mendonca, Berenice B; Brito, Vinicius N; Howard, Sasha R; Latronico, Ana Claudia

THU093 Pituitary Enlargement And Hypopituitarism In Patients Treated With Immune Checkpoint Inhibitors: Two Sides Of The Same Coin?

THU093 免疫检查点抑制剂治疗患者的垂体增大和垂体功能减退:一枚硬币的两面?

Correa, Fernanda A; Nakaguma, Marilena; Madeira, João L O; Nishi, Mirian Y; Abrão, Milena G; Jorge, Alexander A L; Carvalho, Luciani R; Arnhold, Ivo J P; Mendonça, Berenice B; Menotti, Sara; Chiloiro, Sabrina; Giampietro, Antonella; Bianchi, Antonio; Angelini, Flavia; Tartaglione, Tommaso; Antonini Cappellini, Gian Carlo; De Galitiis, Federica; Rossi, Ernesto; Schinzari, Giovanni; Scoppola, Alessandro; Pontecorvi, Alfredo; De Marinis, Laura; Fleseriu, Maria

Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy

TBC1D32相关疾病的诊断:扩展复杂纤毛病的表型谱

Harris, Sarah C; Chong, Karen; Chitayat, David; Gilmore, Kelly L; Jorge, Alexander A L; Freire, Bruna L; Lerario, Antonio; Shannon, Patrick; Cope, Heidi; Gallentine, William B; Le Guyader, Gwenal; Bilan, Frederic; Létard, Pascaline; Davis, Erica E; Vora, Neeta L

FREE POSTER ABSTRACT: Major depression with atypical features in a diagnosed case of prolactinoma on treatment with cabergoline: A case report

免费海报摘要:卡麦角林治疗期间,泌乳素瘤患者出现具有非典型特征的重度抑郁症:病例报告

Gergics, Peter; Smith, Cathy; Bando, Hironori; Jorge, Alexander A L; Rockstroh-Lippold, Denise; Vishnopolska, Sebastian A; Castinetti, Frederic; Maksutova, Mariam; Carvalho, Luciani Renata Silveira; Hoppmann, Julia; Martínez Mayer, Julián; Albarel, Frédérique; Braslavsky, Debora; Keselman, Ana; Bergadá, Ignacio; Martí, Marcelo A; Saveanu, Alexandru; Barlier, Anne; Abou Jamra, Rami; Guo, Michael H; Dauber, Andrew; Nakaguma, Marilena; Mendonca, Berenice B; Jayakody, Sajini N; Ozel, A Bilge; Fang, Qing; Ma, Qianyi; Li, Jun Z; Brue, Thierry; Pérez Millán, María Ines; Arnhold, Ivo J P; Pfaeffle, Roland; Kitzman, Jacob O; Camper, Sally A; Dravid, Posina Srishti; Pratheek P, Vijay Raj; S Swaroopachary, R; Ashok Reddy, K; Srishti Dravid, Posina

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

High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort

利用高通量测序技术鉴定预选多囊卵巢综合征队列中的单基因病因

Crespo, Raiane P; Rocha, Thais P; Montenegro, Luciana R; Nishi, Mirian Y; Jorge, Alexander A L; Maciel, Gustavo A R; Baracat, Edmund; Latronico, Ana Claudia; Mendonca, Berenice B; Gomes, Larissa G