Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 56 Records) |
| Query Trace: Disease and DM1[original query] |
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| Absence of Heterozygous K83E and R257X Mutations of the AIRE-1 Gene in 46 Children with Type 1 Diabetes and 44 Children with Graves' Disease. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2014 5 14 (1): 17-21. Iwama Saika, Ikezaki Ayako, Matsuoka Hisafumi, Hoshi Mari, Sato Hirokazu, Miyamoto Shigeki, Sugihara Shigeta |
| Role of HER2 mutations in refractory metastatic breast cancers: targeted sequencing results in patients with refractory breast cancer. Oncotarget 2015 Sep . Park Yeon Hee, Shin Hyun-Tae, Jung Hae Hyun, Choi Yoon-La, Ahn TaeJin, Park Kyunghee, Lee Aeri, Do In-Gu, Kim Ji-Yeon, Ahn Jin Seok, Park Woong-Yang, Im Young-Hyu |
| Relation of Combined Non-High-Density Lipoprotein Cholesterol and Apolipoprotein B With Atherosclerosis in Adults With Type 1 Diabetes Mellitus. The American journal of cardiology 2015 Oct 116 (7): 1057-62. Bjornstad Petter, Eckel Robert H, Pyle Laura, Rewers Marian, Maahs David M, Snell-Bergeon Janet |
| [Association between polymorphisms in pigment epithelium-derived factor gene promoter region and non-alcoholic fatty liver disease in type 2 diabetes mellitus]. Nan fang yi ke da xue xue bao = Journal of Southern Medical University 2015 Jul 35 (7): 1019-23. Huang Wensen, Shi Yaxiong, Yang Xina, Lin Wanro |
| Haplotype analysis and LD detection at DM1 locus. Gene 2015 Aug 567 (1): 45-50. Kumar Ashok, Agarwal Sarita, Pradhan Sun |
| CCR5-?32 gene polymorphism is associated with retinopathy in patients with type 1 diabetes. Molecular and cellular endocrinology 2017 01 439 256-260. Slominski Bartosz, Lawrynowicz Urszula, Mysliwska Jolanta, Ryba-Stanislawowska Monika, Skrzypkowska Maria, Brandt Agniesz |
| A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients. DNA repair 2016 Mar 40 57-66. Morales Fernando, Vásquez Melissa, Santamaría Carolina, Cuenca Patricia, Corrales Eyleen, Monckton Darren |
| An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy. Neuroepidemiology 2016 Feb 46 (3): 191-197. Vanacore Nicola, Rastelli Emanuele, Antonini Giovanni, Bianchi Maria Laura Ester, Botta Annalisa, Bucci Elisabetta, Casali Carlo, Costanzi-Porrini Sandro, Giacanelli Manlio, Gibellini Manuela, Modoni Anna, Novelli Giuseppe, Pennisi Elena Maria, Petrucci Antonio, Piantadosi Carlo, Silvestri Gabriella, Terracciano Chiara, Massa Rober |
| Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy. Investigative ophthalmology & visual science 2017 Sep 58 (11): 4579-4585. Mootha V Vinod, Hansen Brock, Rong Ziye, Mammen Pradeep P, Zhou Zhengyang, Xing Chao, Gong X |
| Origin of the myotonic dystrophy type 1 mutation in Mexican population and influence of Amerindian ancestry on CTG repeat allelic distribution. Neuromuscular disorders : NMD 2017 10 27 (12): 1106-1114. Murillo-Melo N M, Márquez-Quiróz L C, Gómez R, Orozco L, Mendoza-Caamal E, Tapia-Guerrero Y S, Camacho-Mejorado R, Cortés H, López-Reyes A, Santana C, Noris G, Hernández-Hernández O, Cisneros B, Magaña J |
| Trastuzumab Emtansine (T-DM1) in Patients with Previously Treated HER2-Overexpressing Metastatic Non-Small Cell Lung Cancer: Efficacy, Safety, and Biomarkers. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 Sep . Peters Solange, Stahel Rolf, Bubendorf Lukas, Bonomi Philip, Villegas Augusto, Kowalski Dariusz M, Baik Christina S, Isla Dolores, Carpeno Javier De Castro, Garrido Pilar, Rittmeyer Achim, Tiseo Marcello, Meyenberg Christoph, de Haas Sanne, Lam Lisa H, Lu Michael W, Stinchcombe Thomas |
| Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1. Investigative ophthalmology & visual science 2018 Jun 59 (7): 3053-3057. Winkler Nelson S, Milone Margherita, Martinez-Thompson Jennifer M, Raja Harish, Aleff Ross A, Patel Sanjay V, Fautsch Michael P, Wieben Eric D, Baratz Keith |
| HER2 genomic amplification in circulating tumor DNA and estrogen receptor positivity predict primary resistance to trastuzumab emtansine (T-DM1) in patients with HER2-positive metastatic breast cancer. Breast cancer (Tokyo, Japan) 2018 Apr . Sakai Hitomi, Tsurutani Junji, Iwasa Tsutomu, Komoike Yoshifumi, Sakai Kazuko, Nishio Kazuto, Nakagawa Kazuhi |
| Safety, tolerability, and pharmacokinetics of anti-EGFRvIII antibody-drug conjugate AMG 595 in patients with recurrent malignant glioma expressing EGFRvIII. Cancer chemotherapy and pharmacology 2019 6 84 (2): 327-336. Rosenthal Mark, Curry Richard, Reardon David A, Rasmussen Erik, Upreti Vijay V, Damore Michael A, Henary Haby A, Hill John S, Cloughesy Timot |
| Biomarker analysis of the GATSBY study of trastuzumab emtansine versus a taxane in previously treated HER2-positive advanced gastric/gastroesophageal junction cancer. Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association 2019 Jan . Shah Manish A, Kang Yoon-Koo, Thuss-Patience Peter C, Ohtsu Atsushi, Ajani Jaffer A, Van Cutsem Eric, Hoersch Silke, Harle-Yge Marie-Laurence, de Haas Sanne Lysb |
| Comparison of the efficacy of trastuzumab emtansine between patients with metastatic human epidermal growth factor receptor 2-positive breast cancers previously treated with combination trastuzumab and pertuzumab and with trastuzumab only in Japanese population. Breast cancer (Tokyo, Japan) 2019 Feb . Noda-Narita Shoko, Shimomura Akihiko, Kawachi Asuka, Sumiyoshi-Okuma Hitomi, Sudo Kazuki, Shimoi Tatsunori, Noguchi Emi, Yonemori Kan, Shimizu Chikako, Fujiwara Yasuhiro, Tamura Ken |
| Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset. Human molecular genetics 2020 7 29 (15): 2496-2507. Morales Fernando, Vásquez Melissa, Corrales Eyleen, Vindas-Smith Rebeca, Santamaría-Ulloa Carolina, Zhang Baili, Sirito Mario, Estecio Marcos R, Krahe Ralf, Monckton Darren |
| Molecular Genetic Study in a Cohort of Iranian Families Suspected to Maturity-Onset Diabetes of the Young, Reveals a Recurrent Mutation and a High-Risk Variant in the CEL Gene. Advanced biomedical research 2020 9 25. Sarmadi Akram, Mohammadi Aliasgar, Tabatabaei Fatemeh, Nouri Zahra, Chaleshtori Morteza Hashemzadeh, Tabatabaiefar Mohammad Am |
| Transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration. Neuropathology and applied neurobiology 2021 5 47 (7): 1092-1108. Jimenez-Marin Antonio, Diez Ibai, Labayru Garazi, Sistiaga Andone, Caballero Maria C, Andres-Benito Pol, Sepulcre Jorge, Ferrer Isidro, Lopez de Munain Adolfo, Cortes Jesus |
| Myotonic dystrophy type1: 13years of experience at a tertiary hospital. Clinical and epidemiological study and genotype-phenotype correlation. Neurologia 2021 5 . Sánchez Marín J P, Sienes Bailo P, Lahoz Alonso R, Capablo Liesa J L, Gazulla Abio J, Giménez Muñoz J A, Modrego Pardo P J, Pardiñas Barón B, Izquierdo Álvarez |
| A rare splice site mutation in the gene encoding glucokinase/hexokinase 4 in a patient with MODY type 2. Vavilovskii zhurnal genetiki i selektsii 2021 3 24 (3): 299-305. Ivanoshchuk D E, Shakhtshneider E V, Ovsyannikova A K, Mikhailova S V, Rymar O D, Oblaukhova V I, Yurchenko A A, Voevoda M |
| Human leukocyte antigen (HLA)-DQ2 and -DQ8 haplotypes in celiac, celiac with type 1 diabetic, and celiac suspected pediatric cases. Medicine 2021 3 100 (11): e24954. Siddiqui Komal, Uqaili Arsalan Ahmed, Rafiq Muhammad, Bhutto Muhammad Aqe |
| Trastuzumab emtansine for patients with non-small cell lung cancer positive for human epidermal growth factor receptor 2 exon-20 insertion mutations. European journal of cancer (Oxford, England : 1990) 2021 12 162 99-106. Iwama Eiji, Zenke Yoshitaka, Sugawara Shunichi, Daga Haruko, Morise Masahiro, Yanagitani Noriko, Sakamoto Tomohiro, Murakami Haruyasu, Kishimoto Junji, Matsumoto Shingo, Nakanishi Yoichi, Goto Koichi, Okamoto Isa |
| Prevalence of autoimmune diseases in patients with type 1 diabetes mellitus. DIACAM 1 study 2010-2020. Medicina clinica 2022 3 159 (11): 522-528. Herranz-Antolín Sandra, Sastre Julia, Gonzalvo-Díaz César, Del Val-Zaballos Florentino, Moreno-Fernández Jesús, González-López Javier, Quiroga-López Iván, López-Gallardo Ge |
| Role of HLA-DQ typing and antitissue transglutaminase antibody titres in diagnosing coeliac disease among Sudanese children with type 1 diabetes mellitus. BMJ open gastroenterology 2022 1 9 (1): . Ibaid Ibtihag, Hussien Mohammed, Kaukinen Katri, Sabir Omayma, Elmekki Miskelyemen, Musa Azza, Abdelhadi Nasreldein, El Hussein Abdel Rahim, Saavalainen Päi |
| Myotonic dystrophy type 1: 13 years of experience at a tertiary hospital. Clinical and epidemiological study and genotype-phenotype correlation. Neurologia 2023 7 . J P Sánchez Marín, P Sienes Bailo, R Lahoz Alonso, J L Capablo Liesa, J Gazulla Abio, J A Giménez Muñoz, P J Modrego Pardo, B Pardiñas Barón, S Izquierdo Álvar |
| Variant in the dopamine-4-receptor gene (DRD4) in patients with type 1 diabetes. Neuroendocrinology 2023 4 . Bartosz S?omi?ski, Maria Skrzypkowska, Ma?gorzata My?liwiec, Piotr Trzonkows |
| Biomarker Data From the Phase III KATHERINE Study of Adjuvant T-DM1 Versus Trastuzumab for Residual Invasive Disease After Neoadjuvant Therapy for HER2-Positive Breast Cancer. Clinical cancer research : an official journal of the American Association for Cancer Research 2023 2 . Denkert Carsten, Lambertini Chiara, Fasching Peter A, Pogue-Geile Katherine L, Mano Max S, Untch Michael, Wolmark Norman, Huang Chiun-Sheng, Loibl Sibylle, Mamounas Eleftherios P P, Geyer Charles E, Lucas Peter C, Boulet Thomas, Song Chunyan, Lewis Gail D, Nowicka Malgorzata, de Haas Sanne, Basik Ma |
Identification of genetic variants associated with diabetic kidney disease in multiple Korean cohorts via a genome-wide association study mega-analysis.
BMC medicine 2023 1 21 (1): 16. Jin Heejin, Kim Ye An, Lee Young, Kwon Seung-Hyun, Do Ah Ra, Seo Sujin, Won Sungho, Seo Je Hy |
| Intellectual Profile in Myotonic Dystrophy Type 1 and Its Association With Its Onset: A Systematic Review and Meta-Analysis. Pediatric neurology 2024 9 161 9-17. Carlos Pascual-Morena, Iván Cavero-Redondo, Alicia Saz-Lara, Irene Martínez-García, María Eugenia Visier-Alfonso, Vicente Martínez-Vizcaí |
- Page last reviewed:Feb 1, 2024
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