Human Genome Epidemiology Literature Finder
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Testicular Adrenal Rest Tumors in Congenital Adrenal Hyperplasia: Study of a Cohort of Patients from a Single Italian Center. Children (Basel, Switzerland) 2023 9 10 (9): . Rita Ortolano, Alessandra Cassio, Randa S Alqaisi, Egidio Candela, Valeria Di Natale, Valentina Assirelli, Luca Bernardini, Elisa Bortolamedi, Erika Cantarelli, Beniamino Corcioni, Matteo Renzulli, Antonio Balsamo, Federico Baron |
Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis. International journal of oral science 2023 9 15 (1): 46. Jianfan Chen, Xueqing Xu, Song Chen, Ting Lu, Yingchun Zheng, Zhongzhi Gan, Zongrui Shen, Shunfei Ma, Duocai Wang, Leyi Su, Fei He, Xuan Shang, Huiyong Xu, Dong Chen, Leitao Zhang, Fu Xio |
Three cases of colon cancer in four generations of the Saudi family, caused by endogamous germline mutations. Cellular and molecular biology (Noisy-le-Grand, France) 2023 9 69 (8): 163-171. Dalal S Alshaya, Tahani Mohamed Ibrahim Al-Hazani, Mashael Alhumaidi Alotaibi, Dalia Mostafa Domiaty, Eman Alshehri, Maha Abdulla Alwaili, Amani Mohammed Alotaibi, Areej Saud Jalal, Alaa Ali AlQahtani, Fatima Abdullah AlQassim, Gadah Albasher, Wedad Saeed Al-Qahta |
Clinical and genetic characterization of RDH12-retinal dystrophy in a South American cohort. Ophthalmology. Retina 2023 9 . Malena Daich Varela, Rene Moya, Rebeca Azevedo Souza Amaral, Patricio G Schlottmann, Alejandro Álvarez Mendiara, Aníbal Francone, Rosane Guazi Resende, Luciana Capalbo, Nancy Gelvez, Greizy López, Ana M Morales-Acevedo, Rafael H Ossa, Gavin Arno, Michel Michaelides, Martha L Tamayo, Juliana Maria Ferraz Sall |
Clinical outcomes of advanced NSCLC patients with different EGFR exon 19 deletion subtypes treated with first-line tyrosine kinase inhibitors: A single-center ambispective cohort study. Thoracic cancer 2023 9 . Yangchun Gu, Jinyu Yu, Haifeng Hu, Hua Zhang, Baoshan Cao, Li Lia |
Single Nucleotide Polymorphisms in the Vitamin D Metabolic Pathway as Survival Biomarkers in Colorectal Cancer. Cancers 2023 8 15 (16): . Carmen Pérez-Durán, Noelia Márquez-Pete, José María Gálvez-Navas, Yasmin Cura, Susana Rojo-Tolosa, Laura Elena Pineda-Lancheros, MCarmen Ramírez-Tortosa, Carlos García-Collado, María Del Mar Maldonado-Montoro, Jesús María Villar-Del-Moral, Cristina Pérez-Ramírez, Alberto Jiménez-Moral |
Acute Exercise Effect on Neurocognitive Function among Cognitively Normal Late-Middle-Aged Adults with/without Genetic Risk of AD: The Moderating Role of Exercise Volume and APOE Genotype. The journals of gerontology. Series A, Biological sciences and medical sciences 2023 8 . Yu-Kai Chang, Jennifer L Etnier, Ruei-Hong Li, Fei-Fei Ren, Jing-Yi Ai, Chien-Heng C |
Awareness of celiac disease among the public in Kuwait: a cross-sectional survey. BMC research notes 2023 7 16 (1): 133. Wafaa A Qasem, Ali Al Roumi, Khaled Al Mojil, Hind Sakijha, Nouf AlMugham |
Prenatal diagnosis of tuberous sclerosis complex: Echocardiography, cranial magnetic resonance, and genetic testing of 40 cases with fetal cardiac tumors. Heliyon 2023 7 9 (6): e16980. Neng Jin, Yan Wu, Qing Meng, Qiong L |
Genome-wide polygenic risk score for type 2 diabetes in Indian population. Scientific reports 2023 7 13 (1): 11568. Sandhya Kiran Pemmasani, Shravya Atmakuri, Anuradha Achar |
Angiotensin-Converting Enzyme 2 (ACE2) Gene Polymorphism in Patients with Type 2 Diabetes (T2DM) in Thi-Qar, Iraq. Archives of Razi Institute 2023 6 77 (6): 2365-2370. N Shamki Fayyad, H Risan Al-Rika |
The impact of PROS1 mutation position on thrombotic risk in protein S-deficient patients. Research and practice in thrombosis and haemostasis 2023 6 7 (4): 100194. Tereza Fenclova, Miloslava Matyskova, Dana Provaznikova, Frantisek Marecek, Vera Geierova, Zuzana Kovarova-Kudrnova, Ingrid Hrachovino |
Outstanding Characteristics of Birt-Hogg-Dube Syndrome in Korea. Diagnostics (Basel, Switzerland) 2023 6 13 (12): . Hye Jung Park, Yong Jun Choi, Chul Hwan Park, Tae Hoon Kim, Sung Soo Lee, Duk Hwan Moon, Kyung-A Lee, Sang Eun Lee, Moo Suk Park, Song Yee Kim, Yoon Soo Chang, Seok Jeong Lee, Ji Ye Jung, Ji-Ho Lee, Su Hwan Lee, Taehee Kim, Sung-Ryeol Kim, Kangjoon Kim, Min Kwang By |
Understanding the genetics of early onset obesity in a cohort of children from Qatar. The Journal of clinical endocrinology and metabolism 2023 6 . Idris Mohammed, Basma Haris, Tara Al-Barazenji, Dhanya Vasudeva, Sara Tomei, Iman Al Azwani, Hajar Dauleh, Saira Shehzad, Shiga Chirayath, Ghassan Mohamadsalih, Goran Petrovski, Amel Khalifa, Donald R Love, Mashael Al-Shafai, Khalid Hussa |
Individual Changes in Respiratory Compliance Upon Immersion May Predict Susceptibility to Immersion Pulmonary Edema. Sports medicine - open 2023 6 9 (1): 39. Olivier Castagna, Arnaud Druelle, Guillaume Michoud, Thibaut Prevautel, Jean-René Laco |
Clinical Exome Gene Panel Analysis of a Cohort of Urothelial Bladder Cancer Patients from Sri Lanka. Asian Pacific journal of cancer prevention : APJCP 2023 5 24 (5): 1533-1542. Ajith Malalasekera, Nilaksha Neththikumara, Praveenan Somasundaram, Sajeewani Pathirana, Chathumadavi Ediriweera, Dileepa Ediriweera, Serozsha As Goonewardena, Neville D Perera, Anuruddha Abeygunasekara, Rohan W Jayasekara, Kalum Wettasinghe, M Dilani S Lokuhetty, Vajira H W Dissanaye |
ACE-I/D Allele Modulates Improvements of Cardiorespiratory Function and Muscle Performance with Interval-Type Exercise. Genes 2023 5 14 (5): . Benedikt Gasser, David Niederseer, Walter O Frey, Silvio Catuogno, Martin Flü |
A nonsense mutation in C8orf37 linked with retinitis pigmentosa, early macular degeneration, cataract, and myopia in an arRP family from North India. BMC ophthalmology 2023 5 23 (1): 210. Shiwali Goyal, Kabir Singh, Aashna Uppal, Vanita Vani |
Childhood Cancer Survivors Have Impaired Strain-Derived Myocardial Contractile Reserve by Dobutamine Stress Echocardiography. Journal of clinical medicine 2023 4 12 (8): . Olof Broberg, Ingrid Øra, Constance G Weismann, Thomas Wiebe, Petru Liu |
In Silico Functional and Structural Analysis of Non-synonymous Single Nucleotide Polymorphisms (nsSNPs) in Human Paired Box 4 Gene. Biochemical genetics 2023 12 . Md Mostafa Kamal, Md Numan Islam, Md Golam Rabby, Md Ashrafuzzaman Zahid, Md Mahmudul Has |
Intronic Variants of the Angiotensin-Converting Enzyme 2 Gene Modulate Plasma ACE2 Levels and Possibly Confer Protection against Severe COVID-19. BioMed research international 2023 11 2023 5705076. Rubaiat Ahmed, Abdullah Al Saba, Anik Paul, Jasmin Nur, Md Sohrab Alam, Sajib Chakraborty, Md Zakir Hossain Howlader, Laila N Islam, A H M Nurun Na |
Exome Sequencing Reveals Novel Germline Variants in Breast Cancer Patients in the Southernmost Region of Thailand. Journal of personalized medicine 2023 11 13 (11): . Panupong Sukpan, Surasak Sangkhathat, Hutcha Sriplung, Wison Laochareonsuk, Pongsakorn Choochuen, Nasuha Auseng, Weerawan Khoonjan, Rusta Salaeh, Kornchanok Thangnaphadol, Kasemsun Wanawanakorn, Kanyanatt Kanokwiro |
Potential Modifying Effect of the APOE?4 Allele on Age of Onset and Clinical Manifestations in Patients with Early-Onset Alzheimer's Disease with and without a Pathogenic Variant in PSEN1 in a Sample of the Mexican Population. International journal of molecular sciences 2023 11 24 (21): . César A Valdez-Gaxiola, Eric Jonathan Maciel-Cruz, Rubiceli Hernández-Peña, Sofía Dumois-Petersen, Frida Rosales-Leycegui, Martha Patricia Gallegos-Arreola, José Miguel Moreno-Ortiz, Luis E Figue |
Next-Generation Sequencing Analysis of Mutations in Circulating Tumor DNA from the Plasma of Patients with Head-Neck Cancer Undergoing Chemo-Radiotherapy Using a Pan-Cancer Cell-Free Assay. Current oncology (Toronto, Ont.) 2023 10 30 (10): 8902-8915. Michael I Koukourakis, Erasmia Xanthopoulou, Ioannis M Koukourakis, Sotirios P Fortis, Nikolaos Kesesidis, Christos Kakouratos, Ioannis Karakasiliotis, Constantin N Baxevan |
A Mendelian randomization study revealed a causal link between napping and deep vein thrombosis (DVT). Sleep & breathing = Schlaf & Atmung 2023 10 . Dongqing Yan, Gengqiu Liu, Yin Yin, Qiwei Zhang, Donglei Shi, Junhang Zhang, Yun |
Histologic and Genomic Analysis of Conjunctival SCC in African and American Cohorts Reveal UV Light and HPV Signatures and High Tumor Mutation Burden. Investigative ophthalmology & visual science 2024 4 65 (4): 24. Frederico O Gleber-Netto, Priyadharsini Nagarajan, Oded Sagiv, Curtis R Pickering, Neil Gross, Jing Ning, Melisachew M Yeshi, Yonas Mitku, Michael T Tetzlaff, Bita Esmae |
Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China. Pediatric research 2024 1 . Jingjing Wang, Qinmei Yu, Xiaoxiao Tang, Leslie B Gordon, Junyi Chen, Buchun Jiang, Guoping Huang, Haidong Fu, Jianqin Qian, Zhihong Liu, Jianhua M |
Matrix Gla protein polymorphism rs1800802 is associated with atheroma plaque progression and with cardiovascular events in a chronic kidney disease cohort. Clinical kidney journal 2024 1 17 (1): sfad257. Serafí Cambray, Marcelino Bermúdez-López, Alicia Garcia-Carrasco, Jose M Valdivielso, |
Genomic analysis identifies risk factors in restless legs syndrome. medRxiv : the preprint server for health sciences 2024 1 . Fulya Akçimen, Ruth Chia, Sara Saez-Atienzar, Paola Ruffo, Memoona Rasheed, Jay P Ross, Calwing Liao, Anindita Ray, Patrick A Dion, Sonja W Scholz, Guy A Rouleau, Bryan J Trayn |
HLA-B*58 and HLA-B*27 Play a Role in the Development of Acute Leukemia: A Case Control Study. Asian Pacific journal of cancer prevention : APJCP 2024 1 25 (1): 169-173. Narimane Habour Nouar, Nabil Yafour, Bouali Youcef Youcef, Rachid Bouhass, Mohammed Chekkal, Mohamed Brahimi, Mohamed-Amine Bekadja, Tewfik Sahrao |
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- Page last updated:Apr 16, 2024
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