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

Variants in CUL4B are associated with cerebral malformations.

CUL4B基因变异与脑畸形有关

Vulto-van Silfhout Anneke T, Nakagawa Tadashi, Bahi-Buisson Nadia, Haas Stefan A, Hu Hao, Bienek Melanie, Vissers Lisenka E L M, Gilissen Christian, Tzschach Andreas, Busche Andreas, Müsebeck Jörg, Rump Patrick, Mathijssen Inge B, Avela Kristiina, Somer Mirja, Doagu Fatma, Philips Anju K, Rauch Anita, Baumer Alessandra, Voesenek Krysta, Poirier Karine, Vigneron Jacqueline, Amram Daniel, Odent Sylvie, Nawara Magdalena, Obersztyn Ewa, Lenart Jacek, Charzewska Agnieszka, Lebrun Nicolas, Fischer Ute, Nillesen Willy M, Yntema Helger G, Järvelä Irma, Ropers Hans-Hilger, de Vries Bert B A, Brunner Han G, van Bokhoven Hans, Raymond F Lucy, Willemsen Michèl A A P, Chelly Jamel, Xiong Yue, Barkovich A James, Kalscheuer Vera M, Kleefstra Tjitske, de Brouwer Arjan P M

Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family

在一个近亲结婚的家族中,一种新的ANKH基因突变导致常染色体隐性遗传性智力低下、耳聋、关节强直和轻度低磷血症。

Morava, Eva; Kühnisch, Jirko; Drijvers, Jefte M; Robben, Joris H; Cremers, Cor; van Setten, Petra; Branten, Amanda; Stumpp, Sabine; de Jong, Alphons; Voesenek, Krysta; Vermeer, Sascha; Heister, Angelien; Claahsen-van der Grinten, Hedi L; O'Neill, Charles W; Willemsen, Michèl A; Lefeber, Dirk; Deen, Peter M T; Kornak, Uwe; Kremer, Hannie; Wevers, Ron A

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa

编码视网膜间质蛋白聚糖2的IMPG2基因突变会导致常染色体隐性遗传性视网膜色素变性。

Bandah-Rozenfeld, Dikla; Collin, Rob W J; Banin, Eyal; van den Born, L Ingeborgh; Coene, Karlien L M; Siemiatkowska, Anna M; Zelinger, Lina; Khan, Muhammad I; Lefeber, Dirk J; Erdinest, Inbar; Testa, Francesco; Simonelli, Francesca; Voesenek, Krysta; Blokland, Ellen A W; Strom, Tim M; Klaver, Caroline C W; Qamar, Raheel; Banfi, Sandro; Cremers, Frans P M; Sharon, Dror; den Hollander, Anneke I

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

CEP290 (NPHP6) 基因突变是莱伯氏先天性黑蒙的常见病因。

den Hollander, Anneke I; Koenekoop, Robert K; Yzer, Suzanne; Lopez, Irma; Arends, Maarten L; Voesenek, Krysta E J; Zonneveld, Marijke N; Strom, Tim M; Meitinger, Thomas; Brunner, Han G; Hoyng, Carel B; van den Born, L Ingeborgh; Rohrschneider, Klaus; Cremers, Frans P M