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Select item 38415681.

Hypoparathyroidism-retardation-dysmorphism syndrome

Kalenahalli Jagadish Kumar, Halasahalli Chowdegowda Krishna Kumar, Vadambal Gopalakrishna Manjunath, Sangaraju Mamatha

Indian J Hum Genet. 2013 Jul-Sep; 19(3): 363–365. doi: 10.4103/0971-6866.120814

PMCID:: PMC3841568

Abstract Article PDF–593K

Select item 93529262.

Hypoparathyroidism-retardation-dysmorphism syndrome—Clinical insights from a large longitudinal cohort in a single medical center

Odeya David, Rotem Agur, Rosa Novoa, David Shaki, Dganit Walker, Lior Carmon, Marina Eskin-Schwartz, Ohad S. Birk, Galina Ling, Ruth Schreiber, Neta Loewenthal, Alon Haim, Eli Hershkovitz

Front Pediatr. 2022; 10: 916679. Published online 2022 Jul 22. doi: 10.3389/fped.2022.916679

PMCID:: PMC9352926

Abstract Article PDF–457K

Select item 91187173.

Homologous recombination deficiency (HRD) can predict the therapeutic outcomes of immuno-neoadjuvant therapy in NSCLC patients

Zhen Zhou, Zhengping Ding, Jie Yuan, Shengping Shen, Hong Jian, Qiang Tan, Yunhai Yang, Zhiwei Chen, Qingquan Luo, Xinghua Cheng, Yongfeng Yu, Xiaomin Niu, Liqiang Qian, Xiaoke Chen, Linping Gu, Ruijun Liu, Shenglin Ma, Jia Huang, Tianxiang Chen, Ziming Li, Wenxiang Ji, Liwei Song, Lan Shen, Long Jiang, Zicheng Yu, Chao Zhang, Zaixian Tai, Changxi Wang, Rongrong Chen, David P. Carbone, Xuefeng Xia, Shun Lu

J Hematol Oncol. 2022; 15: 62. Published online 2022 May 18. doi: 10.1186/s13045-022-01283-7

PMCID:: PMC9118717

Abstract Article PDF–2.5M

Select item 96343474.

Clinico-genomic characterization of ATM and HRD in Pancreas Cancer: Application for Practice

Wungki Park, Catherine A. O’Connor, Chaitanya Bandlamudi, Daniella Forman, Joanne F. Chou, Shigeaki Umeda, Marsha Reyngold, Anna M. Varghese, Fergus Keane, Fiyinfolu Balogun, Kenneth H. Yu, David P. Kelsen, Christopher Crane, Marinela Capanu, Christine Iacobuzio-Donahue, Eileen M. O’Reilly

Clin Cancer Res. Author manuscript; available in PMC 2023 May 1.

Published in final edited form as: Clin Cancer Res. 2022 Nov 1; 28(21): 4782–4792. doi: 10.1158/1078-0432.CCR-22-1483

PMCID:: PMC9634347

Abstract Article PDF–959K

Select item 96241335.

In-house testing for homologous recombination repair deficiency (HRD) testing in ovarian carcinoma: a feasibility study comparing AmoyDx HRD Focus panel with Myriad myChoiceCDx assay

Caterina Fumagalli, Ilaria Betella, Alberto Ranghiero, Elena Guerini-Rocco, Giulio Bonaldo, Alessandra Rappa, Davide Vacirca, Nicoletta Colombo, Massimo Barberis

Pathologica. 2022 Aug; 114(4): 288–294. Published online 2022 Aug 1. doi: 10.32074/1591-951X-791

PMCID:: PMC9624133

Abstract Article PDF–263K

Select item 95796286.

Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency

Odeya David, Eyal Kristal, Galina Ling, Arnon Broides, Nurit Hadad, George Shubinsky, Amit Nahum

J Clin Immunol. 2023; 43(2): 350–357. Published online 2022 Oct 18. doi: 10.1007/s10875-022-01380-9

PMCID:: PMC9579628

Abstract Article PDF–618K

Select item 95545097.

HRD-MILN: Accurately estimate tumor homologous recombination deficiency status from targeted panel sequencing data

Xuwen Wang, Ying Xu, Yinbin Zhang, Shenjie Wang, Xuanping Zhang, Xin Yi, Shuqun Zhang, Jiayin Wang

Front Genet. 2022; 13: 990244. Published online 2022 Sep 28. doi: 10.3389/fgene.2022.990244

PMCID:: PMC9554509

Abstract Article PDF–1.4M

Select item 94491658.

Translation and cultural adaptation of the Shame and Stigma Scale (SSS) into Portuguese (Brazil) to evaluate patients with head and neck cancer

William Eduardo Pirola, Bianca Sakamoto Ribeiro Paiva, Eliane Marçon Barroso, David W. Kissane, Claudia Valéria Maseti Pimenta Serrano, Carlos Eduardo Paiva

Braz J Otorhinolaryngol. 2017 Nov-Dec; 83(6): 697–704. Published online 2016 Nov 9. doi: 10.1016/j.bjorl.2016.10.005

PMCID:: PMC9449165

Abstract Article PDF–724K

Select item 94429829.

Translation, cultural adaptation and validation of the Somatic Symptom Scale-8 (SSS-8) for the Brazilian Portuguese language

Camila Fernandes Pollo, Silmara Meneguin, Hélio Amante Miot, César de Oliveira

BMC Prim Care. 2022; 23: 222. Published online 2022 Sep 5. doi: 10.1186/s12875-022-01836-2

PMCID:: PMC9442982

Abstract Article PDF–1.3M

Select item 943214410.

Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad–Sakati syndrome

Majid Aminzadeh, Hamid Galehdari, Gholamreza Shariati, Nasrin Malekpour, Pegah Ghandil

J Pediatr (Rio J) 2020 Jan-Feb; 96(1): 60–65. Published online 2018 Aug 4. doi: 10.1016/j.jped.2018.07.005

PMCID:: PMC9432144

Abstract Article PDF–1.4M

Select item 934906111.

The prevalence of homologous recombination deficiency (HRD) in various solid tumors and the role of HRD as a single biomarker to immune checkpoint inhibitors

Hana Kim, Soomin Ahn, Hongsik Kim, Jung Yong Hong, Jeeyun Lee, Se Hoon Park, Joon Oh Park, Young Suk Park, Ho Yeong Lim, Won Ki Kang, Kyoung-Mee Kim, Seung Tae Kim

J Cancer Res Clin Oncol. 2022; 148(9): 2427–2435. Published online 2021 Sep 12. doi: 10.1007/s00432-021-03781-6

PMCID:: PMC9349061

Abstract Article PDF–759K

Select item 930609312.

Homologous recombination deficiency (HRD) score in aggressive prostatic adenocarcinoma with or without intraductal carcinoma of the prostate (IDC-P)

Sha Zhu, Jinge Zhao, Ling Nie, Wenlian Yin, Yaowen Zhang, Fengnian Zhao, Yuchao Ni, Xingming Zhang, Zhipeng Wang, Jindong Dai, Zhenhua Liu, Junru Chen, Yuhao Zeng, Zilin Wang, Guangxi Sun, Jiayu Liang, Xiaochen Zhao, Xudong Zhu, Ronggui Tao, Jiyu Yang, Ben He, Ni Chen, Pengfei Shen, Hao Zeng

BMC Med. 2022; 20: 237. Published online 2022 Jul 22. doi: 10.1186/s12916-022-02430-0

PMCID:: PMC9306093

Abstract Article PDF–3.3M

Select item 918460213.

Pan-cancer analysis of genomic scar patterns caused by homologous repair deficiency (HRD)

E. Rempel, K. Kluck, S. Beck, I. Ourailidis, D. Kazdal, O. Neumann, A. L. Volckmar, M. Kirchner, H. Goldschmid, N. Pfarr, W. Weichert, D. Hübschmann, S. Fröhling, C. Sutter, C. P. Schaaf, P. Schirmacher, V. Endris, A. Stenzinger, J. Budczies

NPJ Precis Oncol. 2022; 6: 36. Published online 2022 Jun 9. doi: 10.1038/s41698-022-00276-6

PMCID:: PMC9184602

Abstract Article PDF–1.1M

Select item 978962814.

Increased HRD score in cisplatin resistant penile cancer cells

Ria Winkelmann, Katrin Bankov, Claudia Döring, Jaroslav Cinatl, Sebastian Grothe, Florian Rothweiler, Martin Michaelis, Christina Schmitt, Peter J. Wild, Melanie Demes, Jindrich Cinatl, Jr., Stefan Vallo

BMC Cancer. 2022; 22: 1352. Published online 2022 Dec 23. doi: 10.1186/s12885-022-10432-7

PMCID:: PMC9789628

Abstract Article PDF–3.0M

Select item 906347515.

Adsorption–desorption behavior of the hydrophobically associating copolymer AM/APEG/C-18/SSS

Hongping Quan, Qiangying Lu, Zhonghao Chen, Zhiyu Huang, Qingying Jiang

RSC Adv. 2019 Apr 17; 9(22): 12300–12309. Published online 2019 Apr 18. doi: 10.1039/c9ra01932d

PMCID:: PMC9063475

Abstract Article PDF–1.2M

Select item 905444916.

Dental Management of a Tunisian Child with Sanjad-Sakati Syndrome

Farah Chouchene, Aymen Ben Haj Khalifa, Fatma Masmoudi, Ahlem Baaziz, Fethi Maatouk, Hichem Ghedira

Case Rep Dent. 2022; 2022: 9585460. Published online 2022 Apr 22. doi: 10.1155/2022/9585460

PMCID:: PMC9054449

Abstract Article PDF–849K

Select item 902815817.

Oral Facial Manifestations of Sanjad–Sakati Syndrome: A Literature Review

Sara Alghamdi

Children (Basel) 2022 Apr; 9(4): 448. Published online 2022 Mar 22. doi: 10.3390/children9040448

PMCID:: PMC9028158

Abstract Article PDF–929K

Select item 899453218.

A Staghorn Calcium Phosphate Stone in a Child With Sanjad-Sakati Syndrome: An Iatrogenic Manifestation?

Mohammad A Alomar, Mohammad A Alghafees, Raouf M Seyam, Abdulaziz S Aljurayyad, Reema S Aldhalaan, Khalid M Alshuwaier, Yasser M Alkharashi, Abdulrahman L Albassam

Cureus. 2022 Mar; 14(3): e23032. Published online 2022 Mar 10. doi: 10.7759/cureus.23032

PMCID:: PMC8994532

Abstract Article PDF–849K

Select item 889740919.

Efficacy of platinum-based chemotherapy in metastatic breast cancer and HRD biomarkers: utility of exome sequencing

Loïck Galland, Elise Ballot, Hugo Mananet, Romain Boidot, Julie Lecuelle, Juliette Albuisson, Laurent Arnould, Isabelle Desmoulins, Didier Mayeur, Courèche Kaderbhai, Silvia Ilie, Audrey Hennequin, Anthony Bergeron, Valentin Derangère, François Ghiringhelli, Caroline Truntzer, Sylvain Ladoire

NPJ Breast Cancer. 2022; 8: 28. Published online 2022 Mar 4. doi: 10.1038/s41523-022-00395-0

PMCID:: PMC8897409

Abstract Article PDF–1.5M

Select item 887658920.

Homologous Recombination Deficiency (HRD) and BRCA 1/2 Gene Mutation for Predicting the Effect of Platinum-Based Neoadjuvant Chemotherapy of Early-Stage Triple-Negative Breast Cancer (TNBC): A Systematic Review and Meta-Analysis

Yue Chai, Yujie Chen, Di Zhang, Yuce Wei, Zhijun Li, Qiao Li, Binghe Xu

J Pers Med. 2022 Feb; 12(2): 323. Published online 2022 Feb 21. doi: 10.3390/jpm12020323

PMCID:: PMC8876589

Abstract Article PDF–1.2M

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