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

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

对人类X染色体上与单基因疾病相关的基因进行系统分析和预测

Leitão, Elsa; Schröder, Christopher; Parenti, Ilaria; Dalle, Carine; Rastetter, Agnès; Kühnel, Theresa; Kuechler, Alma; Kaya, Sabine; Gérard, Bénédicte; Schaefer, Elise; Nava, Caroline; Drouot, Nathalie; Engel, Camille; Piard, Juliette; Duban-Bedu, Bénédicte; Villard, Laurent; Stegmann, Alexander P A; Vanhoutte, Els K; Verdonschot, Job A J; Kaiser, Frank J; Tran Mau-Them, Frédéric; Scala, Marcello; Striano, Pasquale; Frints, Suzanna G M; Argilli, Emanuela; Sherr, Elliott H; Elder, Fikret; Buratti, Julien; Keren, Boris; Mignot, Cyril; Héron, Delphine; Mandel, Jean-Louis; Gecz, Jozef; Kalscheuer, Vera M; Horsthemke, Bernhard; Piton, Amélie; Depienne, Christel

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

女性X连锁ZC4H2基因的有害新生变异会导致神经源性多发性先天性关节挛缩症的表型变化。

Frints, Suzanna G M; Hennig, Friederike; Colombo, Roberto; Jacquemont, Sebastien; Terhal, Paulien; Zimmerman, Holly H; Hunt, David; Mendelsohn, Bryce A; Kordaß, Ulrike; Webster, Richard; Sinnema, Margje; Abdul-Rahman, Omar; Suckow, Vanessa; Fernández-Jaén, Alberto; van Roozendaal, Kees; Stevens, Servi J C; Macville, Merryn V E; Al-Nasiry, Salwan; van Gassen, Koen; Utzig, Norbert; Koudijs, Suzanne M; McGregor, Lesley; Maas, Saskia M; Baralle, Diana; Dixit, Abhijit; Wieacker, Peter; Lee, Marcus; Lee, Arthur S; Engle, Elizabeth C; Houge, Gunnar; Gradek, Gyri A; Douglas, Andrew G L; Longman, Cheryl; Joss, Shelagh; Velasco, Danita; Hennekam, Raoul C; Hirata, Hiromi; Kalscheuer, Vera M

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

在荷兰,针对听力障碍基因panel进行全外显子组测序的诊断率

Zazo Seco, Celia; Wesdorp, Mieke; Feenstra, Ilse; Pfundt, Rolph; Hehir-Kwa, Jayne Y; Lelieveld, Stefan H; Castelein, Steven; Gilissen, Christian; de Wijs, Ilse J; Admiraal, Ronald Jc; Pennings, Ronald Je; Kunst, Henricus Pm; van de Kamp, Jiddeke M; Tamminga, Saskia; Houweling, Arjan C; Plomp, Astrid S; Maas, Saskia M; de Koning Gans, Pia Am; Kant, Sarina G; de Geus, Christa M; Frints, Suzanna Gm; Vanhoutte, Els K; van Dooren, Marieke F; van den Boogaard, Marie-José H; Scheffer, Hans; Nelen, Marcel; Kremer, Hannie; Hoefsloot, Lies; Schraders, Margit; Yntema, Helger G

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

对 405 个未解析家族的 X 外显子组测序确定了七个新的智力障碍基因

H Hu, S A Haas, J Chelly, H Van Esch, M Raynaud, A P M de Brouwer, S Weinert, G Froyen, S G M Frints, F Laumonnier, T Zemojtel, M I Love, H Richard, A-K Emde, M Bienek, C Jensen, M Hambrock, U Fischer, C Langnick, M Feldkamp, W Wissink-Lindhout, N Lebrun, L Castelnau, J Rucci, R Montjean, O Dorseuil

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

A2ML1基因的杂合种系突变与一种临床上类似于努南综合征的疾病相关。

Vissers, Lisenka E L M; Bonetti, Monica; Paardekooper Overman, Jeroen; Nillesen, Willy M; Frints, Suzanna G M; de Ligt, Joep; Zampino, Giuseppe; Justino, Ana; Machado, José C; Schepens, Marga; Brunner, Han G; Veltman, Joris A; Scheffer, Hans; Gros, Piet; Costa, José L; Tartaglia, Marco; van der Burgt, Ineke; Yntema, Helger G; den Hertog, Jeroen

LPS-induced chorioamnionitis and antenatal corticosteroids modulate Shh signaling in the ovine fetal lung

LPS 诱发的绒毛膜羊膜炎和产前皮质类固醇调节绵羊胎儿肺中的 Shh 信号

Jennifer J P Collins, Elke Kuypers, Ilias Nitsos, J Jane Pillow, Graeme R Polglase, Matthew W Kemp, John P Newnham, Jack P Cleutjens, Suzanna G M Frints, Suhas G Kallapur, Alan H Jobe, Boris W Kramer

Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome

纤毛B9蛋白复合物的破坏导致梅克尔综合征

Reich, David; Patterson, Nick; Kircher, Martin; Delfin, Frederick; Nandineni, Madhusudan R; Pugach, Irina; Ko, Albert Min-Shan; Ko, Ying-Chin; Jinam, Timothy A; Phipps, Maude E; Saitou, Naruya; Wollstein, Andreas; Kayser, Manfred; Pääbo, Svante; Stoneking, Mark; Bungartz, Kathryn D; Nosková, Lenka; Stránecký, Viktor; Hartmannová, Hana; Přistoupilová, Anna; Barešová, Veronika; Ivánek, Robert; Hůlková, Helena; Jahnová, Helena; van der Zee, Julie; Staropoli, John F; Sims, Katherine B; Tyynelä, Jaana; Van Broeckhoven, Christine; Nijssen, Peter CG; Mole, Sara E; Elleder, Milan; Kmoch, Stanislav; Garber, Kathryn B; Dowdle, William E; Robinson, Jon F; Kneist, Andreas; Sirerol-Piquer, M Salomé; Frints, Suzanna GM; Corbit, Kevin C; Zaghloul, Norann A; van Lijnschoten, Gesina; Mulders, Leon; Verver, Dideke E; Zerres, Klaus; Reed, Randall R; Attié-Bitach, Tania; Johnson, Colin A; García-Verdugo, José Manuel; Katsanis, Nicholas; Bergmann, Carsten; Reiter, Jeremy F

Disruption of a ciliary B9 protein complex causes Meckel syndrome

纤毛 B9 蛋白复合物破坏导致梅克尔综合征

William E Dowdle, Jon F Robinson, Andreas Kneist, M Salomé Sirerol-Piquer, Suzanna G M Frints, Kevin C Corbit, Norann A Zaghloul, Gesina van Lijnschoten, Leon Mulders, Dideke E Verver, Klaus Zerres, Randall R Reed, Tania Attié-Bitach, Colin A Johnson, José Manuel García-Verdugo, Nicholas Katsanis, C

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Aicardi-Goutieres综合征的临床和分子表型

Rice, Gillian; Patrick, Teresa; Parmar, Rekha; Taylor, Claire F; Aeby, Alec; Aicardi, Jean; Artuch, Rafael; Montalto, Simon Attard; Bacino, Carlos A; Barroso, Bruno; Baxter, Peter; Benko, Willam S; Bergmann, Carsten; Bertini, Enrico; Biancheri, Roberta; Blair, Edward M; Blau, Nenad; Bonthron, David T; Briggs, Tracy; Brueton, Louise A; Brunner, Han G; Burke, Christopher J; Carr, Ian M; Carvalho, Daniel R; Chandler, Kate E; Christen, Hans-Jurgen; Corry, Peter C; Cowan, Frances M; Cox, Helen; D'Arrigo, Stefano; Dean, John; De Laet, Corinne; De Praeter, Claudine; Dery, Catherine; Ferrie, Colin D; Flintoff, Kim; Frints, Suzanna G M; Garcia-Cazorla, Angels; Gener, Blanca; Goizet, Cyril; Goutieres, Francoise; Green, Andrew J; Guet, Agnes; Hamel, Ben C J; Hayward, Bruce E; Heiberg, Arvid; Hennekam, Raoul C; Husson, Marie; Jackson, Andrew P; Jayatunga, Rasieka; Jiang, Yong-Hui; Kant, Sarina G; Kao, Amy; King, Mary D; Kingston, Helen M; Klepper, Joerg; van der Knaap, Marjo S; Kornberg, Andrew J; Kotzot, Dieter; Kratzer, Wilfried; Lacombe, Didier; Lagae, Lieven; Landrieu, Pierre Georges; Lanzi, Giovanni; Leitch, Andrea; Lim, Ming J; Livingston, John H; Lourenco, Charles M; Lyall, E G Hermione; Lynch, Sally A; Lyons, Michael J; Marom, Daphna; McClure, John P; McWilliam, Robert; Melancon, Serge B; Mewasingh, Leena D; Moutard, Marie-Laure; Nischal, Ken K; Ostergaard, John R; Prendiville, Julie; Rasmussen, Magnhild; Rogers, R Curtis; Roland, Dominique; Rosser, Elisabeth M; Rostasy, Kevin; Roubertie, Agathe; Sanchis, Amparo; Schiffmann, Raphael; Scholl-Burgi, Sabine; Seal, Sunita; Shalev, Stavit A; Corcoles, C Sierra; Sinha, Gyan P; Soler, Doriette; Spiegel, Ronen; Stephenson, John B P; Tacke, Uta; Tan, Tiong Yang; Till, Marianne; Tolmie, John L; Tomlin, Pam; Vagnarelli, Federica; Valente, Enza Maria; Van Coster, Rudy N A; Van der Aa, Nathalie; Vanderver, Adeline; Vles, Johannes S H; Voit, Thomas; Wassmer, Evangeline; Weschke, Bernhard; Whiteford, Margo L; Willemsen, Michel A A; Zankl, Andreas; Zuberi, Sameer M; Orcesi, Simona; Fazzi, Elisa; Lebon, Pierre; Crow, Yanick J

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH

利用阵列比较基因组杂交技术检测非综合征型X连锁智力低下患者的染色体拷贝数变化

Lugtenberg, D; de Brouwer, A P M; Kleefstra, T; Oudakker, A R; Frints, S G M; Schrander-Stumpel, C T R M; Fryns, J P; Jensen, L R; Chelly, J; Moraine, C; Turner, G; Veltman, J A; Hamel, B C J; de Vries, B B A; van Bokhoven, H; Yntema, H G