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

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

先天性痛觉缺失和遗传性感觉及自主神经病变的遗传图谱

Lischka, Annette; Eggermann, Katja; Record, Christopher J; Dohrn, Maike F; Laššuthová, Petra; Kraft, Florian; Begemann, Matthias; Dey, Daniela; Eggermann, Thomas; Beijer, Danique; Šoukalová, Jana; Laura, Matilde; Rossor, Alexander M; Mazanec, Radim; Van Lent, Jonas; Tomaselli, Pedro J; Ungelenk, Martin; Debus, Karlien Y; Feely, Shawna M E; Gläser, Dieter; Jagadeesh, Sujatha; Martin, Madelena; Govindaraj, Geeta M; Singhi, Pratibha; Baineni, Revanth; Biswal, Niranjan; Ibarra-Ramírez, Marisol; Bonduelle, Maryse; Gess, Burkhard; Romero Sánchez, Juan; Suthar, Renu; Udani, Vrajesh; Nalini, Atchayaram; Unnikrishnan, Gopikrishnan; Marques, Wilson Junior; Mercier, Sandra; Procaccio, Vincent; Bris, Céline; Suresh, Beena; Reddy, Vaishnavi; Skorupinska, Mariola; Bonello-Palot, Nathalie; Mochel, Fanny; Dahl, Georg; Sasidharan, Karthika; Devassikutty, Fiji M; Nampoothiri, Sheela; Rodovalho Doriqui, Maria J; Müller-Felber, Wolfgang; Vill, Katharina; Haack, Tobias B; Dufke, Andreas; Abele, Michael; Stucka, Rolf; Siddiqi, Saima; Ullah, Noor; Spranger, Stephanie; Chiabrando, Deborah; Bolgül, Behiye S; Parman, Yesim; Seeman, Pavel; Lampert, Angelika; Schulz, Jörg B; Wood, John N; Cox, James J; Auer-Grumbach, Michaela; Timmerman, Vincent; de Winter, Jonathan; Themistocleous, Andreas C; Shy, Michael; Bennett, David L; Baets, Jonathan; Hübner, Christian A; Leipold, Enrico; Züchner, Stephan; Elbracht, Miriam; Çakar, Arman; Senderek, Jan; Hornemann, Thorsten; Woods, C Geoffrey; Reilly, Mary M; Kurth, Ingo

Health of 2-year-old children born after vitrified oocyte donation in comparison with peers born after fresh oocyte donation

比较冷冻卵子捐赠后出生的2岁儿童与新鲜卵子捐赠后出生的同龄儿童的健康状况

Van Reckem, Marjan; Blockeel, Christophe; Bonduelle, Maryse; Buysse, Andrea; Roelants, Mathieu; Verheyen, Greta; Tournaye, Herman; Hes, Frederik; Belva, Florence

Novel inactivating follicle-stimulating hormone receptor mutations in a patient with premature ovarian insufficiency identified by next-generation sequencing gene panel analysis.

通过新一代测序基因组分析,在一名患有卵巢早衰的患者中发现了一种新的卵泡刺激素受体失活突变

Sassi Asma, Désir Julie, Janssens Véronique, Marangoni Martina, Daneels Dorien, Gheldof Alexander, Bonduelle Maryse, Van Dooren Sonia, Costagliola Sabine, Delbaere Anne

DIDA: A curated and annotated digenic diseases database

DIDA:一个经过整理和注释的双基因疾病数据库

Gazzo, Andrea M; Daneels, Dorien; Cilia, Elisa; Bonduelle, Maryse; Abramowicz, Marc; Van Dooren, Sonia; Smits, Guillaume; Lenaerts, Tom

The impact of an interventional counselling procedure in families with a BRCA1/2 gene mutation: efficacy and safety

针对携带 BRCA1/2 基因突变家庭的干预性咨询程序的影响:疗效和安全性

Sermijn, Erica; Delesie, Liesbeth; Deschepper, Ellen; Pauwels, Ingrid; Bonduelle, Maryse; Teugels, Erik; De Grève, Jacques

A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype

MEN1基因中一种新的双重替换突变:外显率有限且具有特定表型

Ullmann, Urielle; Unuane, David; Velkeniers, Brigitte; Lissens, Willy; Wuyts, Wim; Bonduelle, Maryse

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD

新的MYH11和ACTA2突变揭示了TGFβ信号增强在FTAAD中的作用

Renard, Marjolijn; Callewaert, Bert; Baetens, Machteld; Campens, Laurence; MacDermot, Kay; Fryns, Jean-Pierre; Bonduelle, Maryse; Dietz, Harry C; Gaspar, Isabel Mendes; Cavaco, Diogo; Stattin, Eva-Lena; Schrander-Stumpel, Constance; Coucke, Paul; Loeys, Bart; De Paepe, Anne; De Backer, Julie

Preimplantation genetic diagnosis in female and male carriers of reciprocal translocations: clinical outcome until delivery of 312 cycles

对携带相互易位的女性和男性进行胚胎植入前遗传学诊断:312 个周期直至分娩的临床结果

Keymolen, Kathelijn; Staessen, Catherine; Verpoest, Willem; Liebaers, Inge; Bonduelle, Maryse

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

由COL2A1基因突变引起的Stickler综合征:100例患者的基因型-表型相关性研究

Hoornaert, Kristien P; Vereecke, Inge; Dewinter, Chantal; Rosenberg, Thomas; Beemer, Frits A; Leroy, Jules G; Bendix, Laila; Björck, Erik; Bonduelle, Maryse; Boute, Odile; Cormier-Daire, Valerie; De Die-Smulders, Christine; Dieux-Coeslier, Anne; Dollfus, Hélène; Elting, Mariet; Green, Andrew; Guerci, Veronica I; Hennekam, Raoul C M; Hilhorts-Hofstee, Yvonne; Holder, Muriel; Hoyng, Carel; Jones, Kristi J; Josifova, Dragana; Kaitila, Ilkka; Kjaergaard, Suzanne; Kroes, Yolande H; Lagerstedt, Kristina; Lees, Melissa; Lemerrer, Martine; Magnani, Cinzia; Marcelis, Carlo; Martorell, Loreto; Mathieu, Michèle; McEntagart, Meriel; Mendicino, Angela; Morton, Jenny; Orazio, Gabrielli; Paquis, Véronique; Reish, Orit; Simola, Kalle O J; Smithson, Sarah F; Temple, Karen I; Van Aken, Elisabeth; Van Bever, Yolande; van den Ende, Jenneke; Van Hagen, Johanna M; Zelante, Leopoldo; Zordania, Riina; De Paepe, Anne; Leroy, Bart P; De Buyzere, Marc; Coucke, Paul J; Mortier, Geert R

Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

勘误:COL2A1基因突变引起的斯蒂克勒综合征:100例患者的基因型-表型相关性

van Loon, Janine; Dehghan, Abbas; Weihong, Tang; Trompet, Stella; McArdle, Wendy L; Asselbergs, Folkert W; Chen, Ming-Huei; Lopez, Lorna M; Huffman, Jennifer E; Leebeek, Frank W G; Basu, Saonli; Stott, David J; Rumley, Ann; Gansevoort, Ron T; Davies, Gail; Wilson, James J F; Witteman, Jacqueline C M; Cao, Xiting; de Craen, Anton J M; Bakker, Stephan J L; Psaty, Bruce M; Starr, John M; Hofman, Albert; Jukema, J Wouter; Deary, Ian J; Hayward, Caroline; van der Harst, Pim; Lowe, Gordon D O; Folsom, Aaron R; Strachan, David P; Smith, Nicolas; de Maat, Moniek P M; O'Donnell, Christopher; Hoornaert, Kristien P; Vereecke, Inge; Dewinter, Chantal; Rosenberg, Thomas; Beemer, Frits A; Leroy, Jules G; Bendix, Laila; Björck, Erik; Bonduelle, Maryse; Boute, Odile; Cormier-Daire, Valerie; De Die-Smulders, Christine; Dieux-Coeslier, Anne; Dollfus, Hélène; Elting, Mariet; Green, Andrew; Guerci, Veronica I; Hennekam, Raoul CM; Hilhorts-Hofstee, Yvonne; Holder, Muriel; Hoyng, Carel; Jones, Kristi J; Josifova, Dragana; Kaitila, Ilkka; Kjaergaard, Suzanne; Kroes, Yolande H; Lagerstedt, Kristina; Lees, Melissa; LeMerrer, Martine; Magnani, Cinzia; Marcelis, Carlo; Martorell, Loreto; Mathieu, Michèle; McEntagart, Meriel; Mendicino, Angela; Morton, Jenny; Orazio, Gabrielli; Paquis, Véronique; Reish, Orit; Simola, Kalle OJ; Smithson, Sarah F; Temple, Karen I; Van Aken, Elisabeth; Van Bever, Yolande; van den Ende, Jenneke; Van Hagen, Johanna M; Zelante, Leopoldo; Zordania, Riina; De Paepe, Anne; Leroy, Bart P; De Buyzere, Marc; Coucke, Paul J; Mortier, Geert R