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

Experiences and concerns of parents of children with a 16p11.2 deletion or duplication diagnosis: a reflexive thematic analysis

16p11.2缺失或重复患儿父母的经历和担忧:反思性主题分析

Butter, Charlotte E; Goldie, Caitlin L; Hall, Jessica H; Leadbitter, Kathy; Burkitt, Emma M M; van den Bree, Marianne B M; Green, Jonathan M

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848

NF1 的基因型-表型相关性:错义突变影响 NF1 基因 844-848 位密码子,导致更严重表型的证据

Koczkowska, Magdalena; Chen, Yunjia; Callens, Tom; Gomes, Alicia; Sharp, Angela; Johnson, Sherrell; Hsiao, Meng-Chang; Chen, Zhenbin; Balasubramanian, Meena; Barnett, Christopher P; Becker, Troy A; Ben-Shachar, Shay; Bertola, Debora R; Blakeley, Jaishri O; Burkitt-Wright, Emma M M; Callaway, Alison; Crenshaw, Melissa; Cunha, Karin S; Cunningham, Mitch; D'Agostino, Maria D; Dahan, Karin; De Luca, Alessandro; Destrée, Anne; Dhamija, Radhika; Eoli, Marica; Evans, D Gareth R; Galvin-Parton, Patricia; George-Abraham, Jaya K; Gripp, Karen W; Guevara-Campos, Jose; Hanchard, Neil A; Hernández-Chico, Concepcion; Immken, LaDonna; Janssens, Sandra; Jones, Kristi J; Keena, Beth A; Kochhar, Aaina; Liebelt, Jan; Martir-Negron, Arelis; Mahoney, Maurice J; Maystadt, Isabelle; McDougall, Carey; McEntagart, Meriel; Mendelsohn, Nancy; Miller, David T; Mortier, Geert; Morton, Jenny; Pappas, John; Plotkin, Scott R; Pond, Dinel; Rosenbaum, Kenneth; Rubin, Karol; Russell, Laura; Rutledge, Lane S; Saletti, Veronica; Schonberg, Rhonda; Schreiber, Allison; Seidel, Meredith; Siqveland, Elizabeth; Stockton, David W; Trevisson, Eva; Ullrich, Nicole J; Upadhyaya, Meena; van Minkelen, Rick; Verhelst, Helene; Wallace, Margaret R; Yap, Yoon-Sim; Zackai, Elaine; Zonana, Jonathan; Zurcher, Vickie; Claes, Kathleen; Martin, Yolanda; Korf, Bruce R; Legius, Eric; Messiaen, Ludwine M

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

RRAS基因的激活突变是RAS病谱系中某种表型的基础,并促进白血病的发生。

Flex, Elisabetta; Jaiswal, Mamta; Pantaleoni, Francesca; Martinelli, Simone; Strullu, Marion; Fansa, Eyad K; Caye, Aurélie; De Luca, Alessandro; Lepri, Francesca; Dvorsky, Radovan; Pannone, Luca; Paolacci, Stefano; Zhang, Si-Cai; Fodale, Valentina; Bocchinfuso, Gianfranco; Rossi, Cesare; Burkitt-Wright, Emma M M; Farrotti, Andrea; Stellacci, Emilia; Cecchetti, Serena; Ferese, Rosangela; Bottero, Lisabianca; Castro, Silvana; Fenneteau, Odile; Brethon, Benoît; Sanchez, Massimo; Roberts, Amy E; Yntema, Helger G; Van Der Burgt, Ineke; Cianci, Paola; Bondeson, Marie-Louise; Cristina Digilio, Maria; Zampino, Giuseppe; Kerr, Bronwyn; Aoki, Yoko; Loh, Mignon L; Palleschi, Antonio; Di Schiavi, Elia; Carè, Alessandra; Selicorni, Angelo; Dallapiccola, Bruno; Cirstea, Ion C; Stella, Lorenzo; Zenker, Martin; Gelb, Bruce D; Cavé, Hélène; Ahmadian, Mohammad R; Tartaglia, Marco

Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline

内在突变率和自私选择对父系生殖细胞中新生HRAS突变水平的贡献

Giannoulatou, Eleni; McVean, Gilean; Taylor, Indira B; McGowan, Simon J; Maher, Geoffrey J; Iqbal, Zamin; Pfeifer, Susanne P; Turner, Isaac; Burkitt Wright, Emma M M; Shorto, Jennifer; Itani, Aysha; Turner, Karen; Gregory, Lorna; Buck, David; Rajpert-De Meyts, Ewa; Looijenga, Leendert H J; Kerr, Bronwyn; Wilkie, Andrew O M; Goriely, Anne

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

ZNF469基因在脆性角膜综合征(BCS)中经常发生突变,它是一个单外显子基因,可能调控多种细胞外基质成分的表达。

Rohrbach, Marianne; Spencer, Helen L; Porter, Louise F; Burkitt-Wright, Emma M M; Bürer, Céline; Janecke, Andreas; Bakshi, Madhura; Sillence, David; Al-Hussain, Hailah; Baumgartner, Matthias; Steinmann, Beat; Black, Graeme C M; Manson, Forbes D C; Giunta, Cecilia

Brittle cornea syndrome: recognition, molecular diagnosis and management

脆性角膜综合征:识别、分子诊断和治疗

Burkitt Wright, Emma M M; Porter, Louise F; Spencer, Helen L; Clayton-Smith, Jill; Au, Leon; Munier, Francis L; Smithson, Sarah; Suri, Mohnish; Rohrbach, Marianne; Manson, Forbes D C; Black, Graeme C M

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance

脆性角膜综合征中PRDM5基因的突变揭示了一条调控细胞外基质发育和维持的通路。

Burkitt Wright, Emma M M; Spencer, Helen L; Daly, Sarah B; Manson, Forbes D C; Zeef, Leo A H; Urquhart, Jill; Zoppi, Nicoletta; Bonshek, Richard; Tosounidis, Ioannis; Mohan, Meyyammai; Madden, Colm; Dodds, Annabel; Chandler, Kate E; Banka, Siddharth; Au, Leon; Clayton-Smith, Jill; Khan, Naz; Biesecker, Leslie G; Wilson, Meredith; Rohrbach, Marianne; Colombi, Marina; Giunta, Cecilia; Black, Graeme C M

X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions

X连锁孤立性生长激素缺乏症:SOX3多聚丙氨酸序列扩增的表型谱的扩展

Burkitt Wright, Emma M M; Perveen, Rahat; Clayton, Peter E; Hall, Catherine M; Costa, Teresa; Procter, Annie M; Giblin, Carol A; Donnai, Dian; Black, Graeme C