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

GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification

GNAQ/GNA11嵌合体与血清钙指标异常和微血管神经钙化相关

Knöpfel, Nicole; Zecchin, Davide; Richardson, Hanna; Polubothu, Satyamaanasa; Barberan-Martin, Sara; Cullup, Thomas; Gholam, Karolina; Heales, Simon; Krywawych, Steve; López-Balboa, Pablo; Muwanga-Nanyonjo, Noreen; Ogunbiyi, Olumide; Puvirajasinghe, Clinda; Solman, Lea; Swarbrick, Katherine; Syed, Samira B; Tahir, Zubair; Tisdall, Martin M; Allgrove, Jeremy; Chesover, Alexander D; Aylett, Sarah E; Jacques, Thomas S; Hannan, Fadil M; Löbel, Ulrike; Semple, Robert K; Thakker, Rajesh V; Kinsler, Veronica A

GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics

GNAQ/GNA11嵌合体导致异常钙信号传导,这种异常钙信号传导对靶向治疗敏感

Davide Zecchin,Nicole Knöpfel,Anna K Gluck,Mark Stevenson,Aimie Sauvadet,Satyamaanasa Polubothu,Sara Barberan-Martin,Fanourios Michailidis,Dale Bryant,Asuka Inoue,Kate E Lines,Fadil M Hannan,Robert K Semple,Rajesh V Thakker,Veronica A Kinsler

Vitamin D status in children with congenital melanocytic nevi

先天性黑素细胞痣患儿的维生素D水平

Hughes, Connor T; Dadhra, Jusvinder; Polubothu, Satyamaanasa; Kinsler, Veronica A

PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma

PTPN11 嵌合体可导致一系列色素性和血管性神经皮肤疾病,并易患黑色素瘤

Satyamaanasa Polubothu,Nicole Bender,Siobhan Muthiah,Davide Zecchin,Charalambos Demetriou,Sara Barberan Martin,Sony Malhotra,Jana Travnickova,Zhiqiang Zeng,Markus Böhm,Sebastien Barbarot,Catherine Cottrell,Olivia Davies,Eulalia Baselga,Nigel P Burrows,Virginie Carmignac,Joey Santiago Diaz,Christine Fink,Holger A Haenssle,Rudolf Happle,Mark Harland,Jacquelyn Majerowski,Pierre Vabres,Marie Vincent,Julia A Newton-Bishop,D Tim Bishop,Dawn Siegel,E Elizabeth Patton,Maya Topf,Neil Rajan,Beth Drolet,Veronica A Kinsler

Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype

PPP2R3B 的遗传性重复通过 C21orf91 驱动的增殖表型使人易患痣和黑色素瘤

Satyamaanasa Polubothu,Davide Zecchin,Lara Al-Olabi,Daniël A Lionarons,Mark Harland,Stuart Horswell,Anna C Thomas,Lilian Hunt,Nathan Wlodarchak,Paula Aguilera,Sarah Brand,Dale Bryant,Cristina Carrera,Hui Chen,Greg Elgar,Catherine A Harwood,Michael Howell,Lionel Larue,Sam Loughlin,Jeff MacDonald,Josep Malvehy,Sara Martin Barberan,Vanessa Martins da Silva,Miriam Molina,Deborah Morrogh,Dale Moulding,Jérémie Nsengimana,Alan Pittman,Joan-Anton Puig-Butillé,Kiran Parmar,Neil J Sebire,Stephen Scherer,Paulina Stadnik,Philip Stanier,Gemma Tell,Regula Waelchli,Mehdi Zarrei,Susana Puig,Véronique Bataille,Yongna Xing,Eugene Healy,Gudrun E Moore,Wei-Li Di,Julia Newton-Bishop,Julian Downward,Veronica A Kinsler

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

伴有神经发育异常的 MTOR 相关伊藤色素减退症的临床表现

Virginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, Paul Kuentz, Marie-Hélène Aubriot-Lorton, Victoria E R Parker, Arthur Sorlin, Sylvie Fraitag, Jean-Benoît Courcet, Yannis Duffourd, Diana Rodriguez, Rachel G Knox, Satyamaanasa Polubothu, Anne Boland, Robert Olaso, Marc Delepine, Véronique Darm

Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

更正:MTOR相关伊藤氏色素减退症伴神经发育异常的临床谱

Carmignac, Virginie; Mignot, Cyril; Blanchard, Emmanuelle; Kuentz, Paul; Aubriot-Lorton, Marie-Hélène; Parker, Victoria E R; Sorlin, Arthur; Fraitag, Sylvie; Courcet, Jean-Benoît; Duffourd, Yannis; Rodriguez, Diana; Knox, Rachel G; Polubothu, Satyamaanasa; Boland, Anne; Olaso, Robert; Delepine, Marc; Darmency, Véronique; Riachi, Melissa; Quelin, Chloé; Rollier, Paul; Goujon, Louise; Grotto, Sarah; Capri, Yline; Jacquemont, Marie-Line; Odent, Sylvie; Amram, Daniel; Chevarin, Martin; Vincent-Delorme, Catherine; Catteau, Benoît; Guibaud, Laurent; Arzimanoglou, Alexis; Keddar, Malika; Sarret, Catherine; Callier, Patrick; Bessis, Didier; Geneviève, David; Deleuze, Jean-François; Thauvin, Christel; Semple, Robert K; Philippe, Christophe; Rivière, Jean-Baptiste; Kinsler, Veronica A; Faivre, Laurence; Vabres, Pierre

Molecular Genetic Dissection of Inflammatory Linear Verrucous Epidermal Naevus Leads to Successful Targeted Therapy

炎症性线状疣状表皮痣的分子遗传学解剖可成功实现靶向治疗

Melissa Riachi, Satyamaanasa Polubothu, Paulina Stadnik, Connor Hughes, Sara Barberan Martin, Carolyn R Charman, Iek Leng Cheng, Karolina Gholam, Olumide Ogunbiyi, David G Paige, Neil J Sebire, Alan Pittman, Wei-Li Di, Veronica A Kinsler

Does the gene matter? Genotype-phenotype and genotype-outcome associations in congenital melanocytic naevi

基因重要吗?先天性黑素细胞痣的基因型-表型和基因型-结果关联

S Polubothu, N McGuire, L Al-Olabi, W Baird, N Bulstrode, J Chalker, D Josifova, D Lomas, J O'Hara, J Ong, D Rampling, P Stadnik, A Thomas, E Wedgeworth, N J Sebire, V A Kinsler

Final congenital melanocytic naevi colour is determined by normal skin colour and unaltered by superficial removal techniques: a longitudinal study

先天性黑素细胞痣的最终颜色由正常皮肤颜色决定,且不受浅表去除技术的影响:一项纵向研究

Polubothu, S; Kinsler, V A