Search Results - Journal of Human Genetics

An investigation of steroid biosynthesis pathway genes in women with polycystic ovary syndrome by Priyal Sharma, Manish Jain, Ashutosh Halder

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Tracking muscle wasting and disease activity in facioscapulohumeral muscular dystrophy by qualitative longitudinal imaging by Mauro Monforte, Francesco Laschena, Pierfrancesco Ottaviani, Maria Rosaria Bagnato, Anna Pichiecchio, Giorgio Tasca, Enzo Ricci

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Prenatally diagnosed de novo segmental amplification or deletion by microarray-based comparative genomic hybridization: A retrospective study by Hsiu-Huei Peng, Chien-Hong Lee, Sheng-Yuan Su, Kuan-Ju Chen, Yen-Chang Lee, Shu-Han You, Wen-Fang Lee, Po-Jen Cheng

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Deciphering the origin of the 2012 cholera epidemic in Guinea by integrating epidemiological and molecular analyses. by Stanislas Rebaudet, Martin A Mengel, Lamine Koivogui, Sandra Moore, Ankur Mutreja, Yacouba Kande, Ousmane Yattara, Véronique Sarr Keita, Berthe-Marie N, Pierre-Edouard Fournier, Eric Garnotel, Sakoba Keita, Renaud Piarroux

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Footprint of positive selection in Treponema pallidum subsp. pallidum genome sequences suggests adaptive microevolution of the syphilis pathogen. by Lorenzo Giacani, Sujay Chattopadhyay, Arturo Centurion-Lara, Brendan M Jeffrey, Hoavan T Le, Barbara J Molini, Sheila A Lukehart, Evgeni V Sokurenko, Daniel D Rockey

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Development of a Multilocus Sequence Typing (MLST) scheme for Treponema pallidum subsp. pertenue: Application to yaws in Lihir Island, Papua New Guinea. by Charmie Godornes, Lorenzo Giacani, Alyssa E Barry, Oriol Mitja, Sheila A Lukehart

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Esomeprazole attenuates inflammatory and fibrotic response in lung cells through the MAPK/Nrf2/HO1 pathway by Afshin Ebrahimpour, Min Wang, Li Li, Anil G. Jegga, Mark D. Bonnen, N. Tony Eissa, Ganesh Raghu, Soma Jyothula, Farrah Kheradmand, Nicola A. Hanania, Ivan O. Rosas, Yohannes T. Ghebre

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Phylogeography and demographic history of the Chagas disease vector Rhodnius nasutus (Hemiptera: Reduviidae) in the Brazilian Caatinga biome. by Tatiana Peretolchina, Márcio G Pavan, Jessica Corrêa-Antônio, Rodrigo Gurgel-Gonçalves, Marli M Lima, Fernando A Monteiro

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A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth by Ju Sun Heo, Ka Young Choi, Se Hyoung Sohn, Curie Kim, Yoon Joo Kim, Seung Han Shin, Jae Myung Lee, Juyoung Lee, Jin A Sohn, Byung Chan Lim, Jin A Lee, Chang Won Choi, Ee-Kyung Kim, Han-Suk Kim, Beyong Il Kim, Jung-Hwan Choi

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Emerging Infectious Disease Implications of Invasive Mammalian Species: The Greater White-Toothed Shrew (Crocidura russula) Is Associated With a Novel Serovar of Pathogenic Leptosp... by Jarlath E Nally, Zbigniew Arent, Darrell O Bayles, Richard L Hornsby, Colm Gilmore, Siobhan Regan, Allan D McDevitt, Jon Yearsley, Séamus Fanning, Barry J McMahon

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Molecular discrimination of Opisthorchis-like eggs from residents in a rural community of central Thailand. by Saiwasan Buathong, Saovanee Leelayoova, Mathirut Mungthin, Toon Ruang-Areerate, Tawee Naaglor, Picha Suwannahitatorn, Phunlerd Piyaraj, Paanjit Taamasri, Peerapan Tan-Ariya

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Ten years of surveillance of the Yulong plague focus in China and the molecular typing and source tracing of the isolates. by Peng Wang, Liyuan Shi, Fuxin Zhang, Ying Guo, Zhikai Zhang, Hongli Tan, Zhigang Cui, Yibo Ding, Ying Liang, Yun Liang, Dongzheng Yu, Jianguo Xu, Wei Li, Zhizhong Song

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Haemophilus ducreyi Cutaneous Ulcer Strains Are Nearly Identical to Class I Genital Ulcer Strains. by Dharanesh Gangaiah, Kristen M Webb, Tricia L Humphreys, Kate R Fortney, Evelyn Toh, Albert Tai, Samantha S Katz, Allan Pillay, Cheng-Yen Chen, Sally A Roberts, Robert S Munson, Stanley M Spinola

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Functional analysis of compound heterozygous variations in the CLCNKB gene in a patient with Bartter syndrome type Ⅲ by Yu-wen Cai, Xue-qin Cheng, Ruo-chen Che, Chun-li Wang, Song-ming Huang

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Assessment of 6 STR loci for prenatal diagnosis of Duchenne Muscular Dystrophy by Linh Thuy Dinh, Van Khanh Tran, Long Hoang Luong, Phuong Thi Le, Anh Duy Nguyen, Bang Suong Thi Nguyen, Dung Vu Chi, Thinh Huy Tran, The-Hung Bui, Thanh Van Ta, Duc Hinh Nguyen

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Association Between HLA genotypes and Oxcarbazepine-induced Cutaneous Adverse Drug Reactions: A Systematic Review and Meta-Analysis by Wimonchat Tangamornsuksan, Norman Scholfield, Manupat Lohitnavy

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Conjunctival scarring in trachoma is associated with the HLA-C ligand of KIR and is exacerbated by heterozygosity at KIR2DL2/KIR2DL3. by Chrissy H Roberts, Sandra Molina, Pateh Makalo, Hassan Joof, Emma M Harding-Esch, Sarah E Burr, David C W Mabey, Robin L Bailey, Matthew J Burton, Martin J Holland

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Genotype study of filaggrin gene loss-of-function mutations in central India population with atopic dermatitis and ichthyosis vulgaris by Harsimran S Chawla, Susmit Kosta, Chaitanya Namdeo, Rajesh Kataria, Kailash Bhatia, Roshni Sahu, Pallavi Joshi

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A panel of Trypanosoma brucei strains tagged with blue and red-shifted luciferases for bioluminescent imaging in murine infection models. by Nick Van Reet, Hélène Van de Vyver, Patient Pati Pyana, Anne Marie Van der Linden, Philippe Büscher

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Prevalence of muscular dystrophy in patients with muscular disorders in Tehran, Iran by Khadijeh Hajinaghi Tehrani, Maliheh Hajiloo, Elham Asadollahi, Fariba Paydar Lagini

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