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

BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

BRCA1、BRCA2 和 PALB2 相关范可尼贫血:拓展疾病表型特征并预测杂合子乳腺癌风险的潜力

Johnatty, Sharon E; Tudini, Emma; Parsons, Michael T; Michailidou, Kyriaki; Zanti, Maria; Canson, Daffodil M; Davidson, Aimee L; Berger, Tamar; Rosti, Rasim Ozgur; Kratz, Christian P; Kalb, Reinhard; McReynolds, Lisa J; Giri, Neelam; Richardson, Marcy E; Pesaran, Tina; Surrallés, Jordi; Pujol, Roser; Vundinti, Babu Rao; George, Merin; Maxwell, Kara N; Nathanson, Kate; Domchek, Susan; Fiesco-Roa, Moisés Ó; Frias, Sara; García-de-Teresa, Benilde; Jongmans, Marjolijn; Lalani, Seema; Maiburg, Merel; Prescott, Katrina; Robinson, Rachel; Rajagopalan, Sulekha; Blok, Lot Snijders; Temple, Suzanna E L; Tucker, Kathy; Auerbach, Arleen D; Cancio, Maria I; Kennedy, Jennifer A; MacMillan, Margaret L; Tryon, Rebecca; Wagner, John E; Walsh, Michael; Boddicker, Nicholas J; Hu, Chunling; Weitzel, Jeffrey N; Dingemans, Alexander J M; Hadler, Johanna; Rotenberg, Nitsan; Ramadane-Morchadi, Lobna; Hoya, Miguel de la; James, Paul; Van Overeem Hansen, Thomas; Vreeswijk, Maaike P G; Walker, Logan C; Sharan, Shyam K; Easton, Douglas F; Couch, Fergus; Smogorzewska, Agata; Nelson, Adam; Ngeow, Joanne; Tischkowitz, Marc; Gomez-Garcia, Encarnacion; Spurdle, Amanda B

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

对 BRCA1、BRCA2 和 PALB2 相关范可尼贫血症的分析表明,可以扩展疾病表型特征并预测杂合子患乳腺癌的风险。

Johnatty, Sharon E; Tudini, Emma; Parsons, Michael T; Michailidou, Kyriaki; Zanti, Maria; Canson, Daffodil; Davidson, Aimee L; Berger, Tamar; Rosti, Rasim Ozgur; Kratz, Christian P; Kalb, Reinhard; McReynolds, Lisa J; Giri, Neelam; Richardson, Marcy; Pesaran, Tina; Surrallés, Jordi; Pujol, Roser; Vundinti, Babu Rao; George, Merin; Maxwell, Kara N; Nathanson, Kate; Domchek, Susan; Fiesco-Roa, Moisés Ó; Frias, Sara; Garcia-de-Teresa, Benilde; Jongmans, Marjolijn; Lalani, Seema; Maiburg, Merel; Prescott, Katrina; Robinson, Rachel; Rajagopalan, Sulekha; Blok, Lot Snijders; Temple, Suzanna E L; Tucker, Kathy; Auerbach, Arleen D; Cancio, Maria I; Kennedy, Jennifer A; MacMillan, Margaret L; Tryon, Rebecca; Wagner, John E; Walsh, Michael; Boddicker, Nicholas J; Hu, Chunling; Weitzel, Jeffrey N; Dingemans, Alexander J M; Hadler, Johanna; Rotenberg, Nitsan; Ramadane-Morchadi, Lobna; de la Hoya, Miguel; James, Paul; Van Overeem Hansen, Thomas; Vreeswijk, Maaike P G; Walker, Logan C; Sharan, Shyam K; Easton, Douglas F; Couch, Fergus; Smogorzewska, Agata; Nelson, Adam; Ngeow, Joanne; Tischkowitz, Marc; Gomez-Garcia, Encarnacion; Spurdle, Amanda B

Tracking Cytopenias in FANCA-deficient Fanconi Anemia

追踪FANCA缺陷型范可尼贫血症中的细胞减少症

Maxwell, Rochelle R; Berger, Tamar; Jiang, Caroline S; Rosenberg, Allana; Gonzalez, Ashlyn-Maree; Odame, Jodie; Lin, Yu-Chien; Lach, Francis P; Kennedy, Jennifer; Tryon, Rebecca; Donovan, Frank X; Kimble, Danielle C; Soma, Shivatheja; Cancio, Maria I; Wagner, John E; MacMillan, Margaret L; Davies, Stella M; Chandrasekharappa, Settara C; Mehta, Parinda A; Boulad, Farid; Auerbach, Arleen D; Smogorzewska, Agata

FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia

FANCA c.3624C>T (p.Ser1208=) 是一种功能减弱的剪接变异体,与范可尼贫血症的延迟发病相关。

Ramanagouda Ramanagoudr-Bhojappa ,Rebecca Tryon ,Francis P Lach ,Frank X Donovan ,Rochelle Maxwell ,Allana Rosenberg ,Margaret L MacMillan ,John E Wagner ,Arleen D Auerbach ,Agata Smogorzewska ,Settara C Chandrasekharappa

Comparison of the clinical phenotype and haematological course of siblings with Fanconi anaemia

范可尼贫血症同胞的临床表型和血液学病程比较

Jung, Moonjung; Mehta, Parinda A; Jiang, Caroline S; Rosti, Rasim O; Usleaman, Gabriel; Correa da Rosa, Joel M; Lach, Francis P; Goodridge, Erica; Auerbach, Arleen D; Davies, Stella M; Smogorzewska, Agata; Boulad, Farid

Association of clinical severity with FANCB variant type in Fanconi anemia

范可尼贫血的临床严重程度与 FANCB 变异类型的关联

Moonjung Jung, Ramanagouda Ramanagoudr-Bhojappa, Sylvie van Twest, Rasim Ozgur Rosti, Vincent Murphy, Winnie Tan, Frank X Donovan, Francis P Lach, Danielle C Kimble, Caroline S Jiang, Roger Vaughan, Parinda A Mehta, Filomena Pierri, Carlo Dufour, Arleen D Auerbach, Andrew J Deans, Agata Smogorzewska

Distinct roles of BRCA2 in replication fork protection in response to hydroxyurea and DNA interstrand cross-links

BRCA2在响应羟基脲和DNA链间交联时对复制叉保护的不同作用

Rickman, Kimberly A; Noonan, Raymond J; Lach, Francis P; Sridhar, Sunandini; Wang, Anderson T; Abhyankar, Avinash; Huang, Athena; Kelly, Michael; Auerbach, Arleen D; Smogorzewska, Agata

A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India

南亚人群中的一种创始人变异导致印度范可尼贫血症(FANCL)病例高发。

Donovan, Frank X; Solanki, Avani; Mori, Minako; Chavan, Niranjan; George, Merin; C, Selvaa Kumar; Okuno, Yusuke; Muramastsu, Hideki; Yoshida, Kenichi; Shimamoto, Akira; Takaori-Kondo, Akifumi; Yabe, Hiromasa; Ogawa, Seishi; Kojima, Seiji; Yabe, Miharu; Ramanagoudr-Bhojappa, Ramanagouda; Smogorzewska, Agata; Mohan, Sheila; Rajendran, Aruna; Auerbach, Arleen D; Takata, Minoru; Chandrasekharappa, Settara C; Vundinti, Babu Rao

A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families

对范可尼贫血患者及其家族成员进行致病性FANCA变异体鉴定的综合方法

Danielle C Kimble ,Francis P Lach ,Siobhan Q Gregg ,Frank X Donovan ,Elizabeth K Flynn ,Aparna Kamat ,Alice Young ,Meghana Vemulapalli ,James W Thomas ,James C Mullikin ,Arleen D Auerbach ,Agata Smogorzewska ,Settara C Chandrasekharappa

Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype

在范康尼贫血患者中观察到成纤维细胞和外周血细胞中存在基因内 FANCB 重复的体细胞嵌合体,导致表型较轻

Rajalakshmi S Asur, Danielle C Kimble, Francis P Lach, Moonjung Jung, Frank X Donovan, Aparna Kamat, Raymond J Noonan, James W Thomas, Morgan Park, Peter Chines, Adrianna Vlachos, Arleen D Auerbach, Agata Smogorzewska, Settara C Chandrasekharappa