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| Approach Toward Germline Predisposition Syndromes in Patients with Hematologic Malignancies. Current hematologic malignancy reports 2022 10 17 (6): 275-285. Atluri Himachandana, Gerstein Yoheved S, DiNardo Courtney |
| Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT. Blood 2022 10 . Schuetz Catharina, Gerke Julia, Ege Markus Johannes, Walter Jolan Eszter, Kusters Maaike, Worth Austen J J, Kanakry Jennifer A, Dimitrova Dimana, Wolska-Kusnierz Beata, Chen Karin, Unal Ekrem, Karakukcu Musa, Pashchenko Olga, Leiding Jennifer W, Kawai Tomoki, Amrolia Persis Jal, Berghuis Dagmar, Buechner Jochen, Buchbinder David, Cowan Morton J, Gennery Andrew R, Güngör Tayfun, Heimall Jennifer R, Miano Maurizio, Meyts Isabelle, Morris Emma C, Rivière Jacques G, Sharapova Svetlana O, Shaw Peter J, Slatter Mary A, Honig Manfred, Veys Paul, Fischer Alain, Cavazzana Marina, Moshous Despina, Schulz Ansgar S, Albert Michael H, Puck Jennifer M, Lankester Arjan C, Notarangelo Luigi D, Neven Bénédic |
| How Well do Polygenic Risk Scores Identify Men at High Risk for Prostate Cancer? Systematic Review and Meta-Analysis. Clinical genitourinary cancer 2022 Sep . Siltari Aino, Lönnerbro Ragnar, Pang Karl, Shiranov Kirill, Asiimwe Alex, Evans-Axelsson Susan, Franks Billy, Kiran Amit, Murtola Teemu J, Schalken Jack, Steinbeisser Carl, Bjartell Anders, Auvinen Anssi, |
| Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand. Pediatric dermatology 2022 Oct . Supsrisunjai Chavalit, Bunnag Thareena, Chaowalit Prapaipit, Boonpuen Niorn, Kootiratrakarn Tanawatt, Wessagowit Vesar |
| Clinical and Genetic Characteristics of Retinal Capillary Hemangioblastoma in Korean Patients. Korean journal of ophthalmology : KJO 2022 Oct . Lee Sang Ha, Park Kyu Hyung, Woo Se Joon, Park Sang Jun, Joo Kwangs |
Large-scale genome-wide association study of coronary artery disease in genetically diverse populations.
Nature medicine 2022 8 28 (8): 1679-1692. Tcheandjieu Catherine, Zhu Xiang, Hilliard Austin T, Clarke Shoa L, Napolioni Valerio, Ma Shining, Lee Kyung Min, Fang Huaying, Chen Fei, Lu Yingchang, Tsao Noah L, Raghavan Sridharan, Koyama Satoshi, Gorman Bryan R, Vujkovic Marijana, Klarin Derek, Levin Michael G, Sinnott-Armstrong Nasa, Wojcik Genevieve L, Plomondon Mary E, Maddox Thomas M, Waldo Stephen W, Bick Alexander G, Pyarajan Saiju, Huang Jie, Song Rebecca, Ho Yuk-Lam, Buyske Steven, Kooperberg Charles, Haessler Jeffrey, Loos Ruth J F, Do Ron, Verbanck Marie, Chaudhary Kumardeep, North Kari E, Avery Christy L, Graff Mariaelisa, Haiman Christopher A, Le Marchand Loïc, Wilkens Lynne R, Bis Joshua C, Leonard Hampton, Shen Botong, Lange Leslie A, Giri Ayush, Dikilitas Ozan, Kullo Iftikhar J, Stanaway Ian B, Jarvik Gail P, Gordon Adam S, Hebbring Scott, Namjou Bahram, Kaufman Kenneth M, Ito Kaoru, Ishigaki Kazuyoshi, Kamatani Yoichiro, Verma Shefali S, Ritchie Marylyn D, Kember Rachel L, Baras Aris, Lotta Luca A, , , , , Kathiresan Sekar, Hauser Elizabeth R, Miller Donald R, Lee Jennifer S, Saleheen Danish, Reaven Peter D, Cho Kelly, Gaziano J Michael, Natarajan Pradeep, Huffman Jennifer E, Voight Benjamin F, Rader Daniel J, Chang Kyong-Mi, Lynch Julie A, Damrauer Scott M, Wilson Peter W F, Tang Hua, Sun Yan V, Tsao Philip S, O'Donnell Christopher J, Assimes Themistocles |
| Contribution of germline PALB2 variants to an unselected and prospectively registered pancreatic cancer patient cohort in Pakistan. HPB : the official journal of the International Hepato Pancreato Biliary Association 2022 Sep . Muhammad Noor, Sadaqat Rida, Naeemi Humaira, Masood Iqra, Hassan Usman, Ijaz Bushra, Hanif Faisal, Syed Aamir A, Yusuf Muhammed A, Rashid Muhammad |
| Association between fertility treatments and breast cancer risk in women with a family history or BRCA mutations: a systematic review and meta-analysis. Frontiers in endocrinology 2022 13 986477. Liu Xiaojing, Yue Jing, Pervaiz Ruqiya, Zhang Hanwang, Wang L |
| Individual differences and predictors of general awareness in problem gambling. Addictive behaviors 2022 Sep 136 107505. Gooding Nolan B, Kim Hyoun S, Williams Robert J, Williams Jennifer |
| A founder Journal of medical genetics 2022 Aug . Valluru Manoj K, Chung Noelle Kx, Gilchrist Mark, Butland Laura, Cook Jackie, Takou Anna, Dixit Abhijit, Weedon Michael N, Ong Albert C M, |
| Prevalence and Factors Associated with BRCA1/2 Gene Mutation in Chinese Populations with Breast Cancer. International journal of general medicine 2022 15 6783-6789. Huang Guoding, Lu Hongquan, Chen Qizhu, Huang Xinti |
| Polymorphisms of the sodium voltage-gated channel, alpha subunit 1 (SCN1A -A3184G) gene among children with non-lesional epilepsy: a case-control study. Italian journal of pediatrics 2022 Sep 48 (1): 157. Ghazala Esraa, Shahin Doaa A, Wahba Yah |
| Allergic disease trajectories up to adolescence: Characteristics, early-life, and genetic determinants. Allergy 2022 Sep . Kilanowski Anna, Thiering Elisabeth, Wang Gang, Kumar Ashish, Kress Sara, Flexeder Claudia, Bauer Carl-Peter, Berdel Dietrich, von Berg Andrea, Bergström Anna, Gappa Monika, Heinrich Joachim, Herberth Gunda, Koletzko Sibylle, Kull Inger, Melén Erik, Schikowski Tamara, Peters Annette, Standl Mar |
| Family history of prostate and breast cancer integrated with a polygenic risk score identifies men at highest risk of dying from prostate cancer before age 75 years. Clinical cancer research : an official journal of the American Association for Cancer Research 2022 Sep . Plym Anna, Zhang Yiwen, Stopsack Konrad H, Jee Yon Ho, Wiklund Fredrik, Kibel Adam S, Kraft Peter, Giovannucci Edward, Penney Kathryn L, Mucci Lorelei |
| Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes. Annals of oncology : official journal of the European Society for Medical Oncology 2022 Sep . Loveday C, Garrett A, Law P, Hanks S, Poyastro-Pearson E, Adlard J W, Barwell J, Berg J, Brady A F, Brewer C, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison P J, Paterson J, Porteous M, Rogers M T, Walker L, , Eccles D, Evans D G, Snape K, Hanson H, Houlston R S, Turnbull |
| Rare surfactant-related variants in familial and sporadic pulmonary fibrosis. Human mutation 2022 Sep . Sutton Rachel M, Bittar Humberto Trejo, Sullivan Daniel I, Silva Agustin Gil, Bahudhanapati Harinath, Parikh Anishka H, Zhang Yingze, Gibson Kevin, McDyer John F, Kass Daniel J, Alder Jonathan |
| Genetic drivers of Cushing's disease: Frequency and associated phenotypes. Genetics in medicine : official journal of the American College of Medical Genetics 2022 Sep . Hernández-Ramírez Laura C, Pankratz Nathan, Lane John, Faucz Fabio R, Chittiboina Prashant, Kay Denise M, Beethem Zachary, Mills James L, Stratakis Constantine |
| Systematic evaluation of genetic mutations in ALS: a population-based study. Journal of neurology, neurosurgery, and psychiatry 2022 Jul . Grassano Maurizio, Calvo Andrea, Moglia Cristina, Sbaiz Luca, Brunetti Maura, Barberis Marco, Casale Federico, Manera Umberto, Vasta Rosario, Canosa Antonio, D'Alfonso Sandra, Corrado Lucia, Mazzini Letizia, Dalgard Clifton, Karra Ramita, Chia Ruth, Traynor Bryan, Chiò Adria |
| Novel splice?site variants c.393G>A, c.278_2A>G in exon 2 and Q705K variant in exon 3 of NLRP3 gene are associated with bipolar I disorder. Molecular medicine reports 2022 09 26 (3): . Öztürk Kuya? Heki?mler, Ünal Güli?n Özdam |
| Early-onset diabetes involving three consecutive generations had different clinical features from age-matched type 2 diabetes without a family history in China. Endocrine 2022 Oct 78 (1): 47-56. Wang Da-Wei, Yuan Jing, Yang Fang-Yuan, Qiu Hai-Yan, Lu Jing, Yang Jin-K |
| Clinical and molecular findings of intermediate allele carriers in the HTT gene from the Mexican Mestizo population. Neuro-degenerative diseases 2022 Aug . Ramírez-García Miguel Ángel, Dávila-Ortiz de Montellano David José, Martínez-Ruano Leticia, Ochoa-Morales Adriana, Romero-Hidalgo Sandra, Zenteno Juan Carlos, Yescas-Gómez Pet |
| Screening of BRCA1 (c.5177_5180delGAAA rs80357867 and c.4986+6T>C rs80358086) and the BRCA2 (c.6445_6446delAT rs80359592) Genes for Breast Cancer Prevention in Burkina Faso. Ethiopian journal of health sciences 2022 Jul 32 (4): 699-708. Kiendrebeogo Isabelle T, Zoure Abdou A, Zongo Fabienne I, Ouedraogo Serge Y, Sawadogo Alexis Y, Amegnona Jospin, Sombie Herman K, Bazie Jean T Valérie Elvira, Sorgho Pegdwendé A, Yonli Albert T, Ouedraogo Marie N Lamoussa, Obiri-Yeboah Dorcas, Zongo Nayi, Bambara Hierrhum A, Simpore Jacqu |
| Germline Variants Associated with Nasopharyngeal Carcinoma Predisposition Identified through Whole-Exome Sequencing. Cancers 2022 Jul 14 (15): . Lee Ning-Yuan, Hum Melissa, Ong Pei-Yi, Myint Matthew Khine, Ong Enya H W, Low Kar-Perng, Li Zheng, Goh Boon-Cher, Tay Joshua K, Loh Kwok-Seng, Chua Melvin L K, Lee Soo-Chin, Khor Chiea-Chuen, Lee Ann S |
| Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 Aug JCO2200120. Yurgelun Matthew B, Uno Hajime, Furniss C Sloane, Ukaegbu Chinedu, Horiguchi Miki, Yussuf Amal, LaDuca Holly, Chittenden Anu, Garber Judy E, Syngal Sap |
| The correlation between transcription factor 7-like 2 gene polymorphisms and susceptibility of gestational diabetes mellitus in the population of central China: A case-control study. Frontiers in endocrinology 2022 13 916590. Zhang Pei, Deng Mengyao, Li Wei, Dai Qiong, He Hua, Zheng Wenpei, She Lu, Xiang Bing, Zeng Jing, Zhou Feng, Guo Yan, Yang M |
| Prevalence of BRCA1 and BRCA2 pathogenic variants in 8627 unselected patients with breast cancer: stratification of age at diagnosis, family history and molecular subtype. Breast cancer research and treatment 2022 Oct 195 (3): 431-439. Zang Fan, Ding Xinyun, Chen Jiuan, Hu Li, Sun Jie, Zhang Juan, Xu Ye, Yao Lu, Xie Yunt |
| Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil. Molecular biology reports 2022 Aug . Pereira Júlia Zanon, Carneiro Juliana Garcia, Vieira Mariana Sousa, Valente Bruna Mattioly, de Oliveira Pâmella Zorzan, Mello Carolina Lins, de Campos Caroline Leonel Vasconcelos, Gomes Karina Bra |
| BRCA1/2 variants and copy number alterations status in non familial triple negative breast cancer and high grade serous ovarian cancer. Hereditary cancer in clinical practice 2022 Aug 20 (1): 29. El Ansari Fatima Zahra, Jouali Farah, Fekkak Rim, Bakkach Joaira, Ghailani Nourouti Naima, Barakat Amina, Bennani Mechita Mohcine, Fekkak Jam |
| Clinicopathological characteristics and prognostic analysis of PIK3CA mutation in breast cancer patients in Northwest China. Pathology, research and practice 2022 Aug 238 154063. Lv Wei, Du Chong, Zhang Yinbing, Wu Fei, Jin Yaofeng, Chen Xi, Liu Xuan, Feng Cong, Ma Xingcong, Zhang Shuq |
| A validation of models for prediction of pathogenic variants in mismatch repair genes. Genetics in medicine : official journal of the American College of Medical Genetics 2022 Aug . Shyr Cathy, Blackford Amanda L, Huang Theodore, Ke Jianfeng, Ouardaoui Nofal, Trippa Lorenzo, Syngal Sapna, Ukaegbu Chinedu, Uno Hajime, Nafa Khedoudja, Stadler Zsofia K, Offit Kenneth, Amos Christopher I, Lynch Patrick M, Chen Sining, Giardiello Francis M, Buchanan Daniel D, Hopper John L, Jenkins Mark A, Southey Melissa C, Win Aung Ko, Figueiredo Jane C, Braun Danielle, Parmigiani Giovan |
| Utility of whole genome sequencing in assessing risk and clinically-relevant outcomes for pulmonary fibrosis. The European respiratory journal 2022 Aug . Zhang David, Newton Chad A, Wang Binhan, Povysil Gundula, Noth Imre, Martinez Fernando J, Raghu Ganesh, Goldstein David, Kim Garcia Christi |
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- Page last updated:Feb 07, 2023
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