Human Genome Epidemiology Literature Finder
Records 1 - 10 (of 10 Records) |
Query Trace: Syndrome and IDS[original query] |
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Functional variants of the human 5-lipoxygenase gene and their genetic diagnosis. Prostaglandins, leukotrienes, and essential fatty acids 0 80 (5-6): 255-62. Geiger Emanuel V, Doehring Alexandra, Kirchhof Anja, Lötsch Jö |
Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome. JIMD reports 2015 19 101-9. Galvis Johanna, González Jannet, Uribe Alfredo, Velasco Har |
Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome. Clinical genetics 2016 Jan . Alcántara-Ortigoza Miguel A, García-de Teresa Benilde, González-Del Angel Ariadna, Berumen Jaime, Guardado-Estrada Mariano, Fernández-Hernández Liliana, Navarrete-Martínez Juana Inés, Maza-Morales Mariana, Rius-Domínguez Roc |
Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders. Epigenetics 2018 9 13 (9): 897-909. Fontana L, Bedeschi M F, Maitz S, Cereda A, Faré C, Motta S, Seresini A, D'Ursi P, Orro A, Pecile V, Calvello M, Selicorni A, Lalatta F, Milani D, Sirchia S M, Miozzo M, Tabano |
Association between leptin levels and severity of suicidal behaviour in schizophrenia spectrum disorders. Acta psychiatrica Scandinavica 2019 3 139 (5): 464-471. Gohar S M, Dieset I, Steen N E, Mørch R H, Vedal T S J, Reponen E J, Steen V M, Andreassen O A, Melle |
Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II). International journal of molecular sciences 2019 12 21 (1): . Lin Hsiang-Yu, Tu Ru-Yi, Chern Schu-Rern, Lo Yun-Ting, Fran Sisca, Wei Fang-Jie, Huang Sung-Fa, Tsai Shin-Yu, Chang Ya-Hui, Lee Chung-Lin, Lin Shuan-Pei, Chuang Chih-Kua |
The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients. BMC medical genetics 2020 5 21 (1): 111. Chkioua L, Grissa O, Leban N, Gribaa M, Boudabous H, Turkia H Ben, Ferchichi S, Tebib N, Laradi |
A Tiered Genetic Screening Strategy for the Molecular Diagnosis of Intellectual Disability in Chinese Patients. Frontiers in genetics 2021 10 12 669217. Dai Limeng, Zhang Danyan, Wu Zhifeng, Guan Xingying, Ma Mingfu, Li Lianbing, Zhang Yuping, Bai Yun, Guo Ho |
Long-Term Outcome of a Series of Patients With Narcolepsy Type 1 and Comorbidity With Immunopathological and Autoimmune Diseases. Journal of clinical medicine research 2022 9 14 (8): 309-314. Martinez-Orozco Francisco J, Fernandez-Arquero Miguel, Vicario Jose L, Lillo-Triguero Laura, Ameyugo Elena, Peraita-Adrados Ro |
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances. Clinical epigenetics 2022 6 14 (1): 71. Pignata Laura, Cecere Francesco, Verma Ankit, Hay Mele Bruno, Monticelli Maria, Acurzio Basilia, Giaccari Carlo, Sparago Angela, Hernandez Mora Jose Ramon, Monteagudo-Sánchez Ana, Esteller Manel, Pereda Arrate, Tenorio-Castano Jair, Palumbo Orazio, Carella Massimo, Prontera Paolo, Piscopo Carmelo, Accadia Maria, Lapunzina Pablo, Cubellis Maria Vittoria, de Nanclares Guiomar Perez, Monk David, Riccio Andrea, Cerrato Flav |
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- Page last updated:Apr 22, 2024
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