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Genome-Wide Copy Number Analysis in a Family With p.G533C RET Mutation and Medullary Thyroid Carcinoma Identified Regions Potentially Associated With a Higher Predisposition to Lymph Node Metastasis
Araujo, Aline N., Moraes, Lais, França, Maria Inez C., Hakonarson, Hakon, Li, Jin, Pellegrino, Renata, Maciel, Rui M. B., Cerutti, Janete M.
Published in The journal of clinical endocrinology and metabolism (01.06.2014)
Published in The journal of clinical endocrinology and metabolism (01.06.2014)
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Brief Report: Deficiency of Complement 1r Subcomponent in Early‐Onset Systemic Lupus Erythematosus: The Role of Disease‐Modifying Alleles in a Monogenic Disease
Demirkaya, Erkan, Zhou, Qing, Smith, Carolyne K., Ombrello, Michael J., Deuitch, Natalie, Tsai, Wanxia L., Hoffmann, Patrycja, Remmers, Elaine F., Takeuchi, Masaki, Park, Yong Hwan, Chae, JaeJin, Barut, Kenan, Simsek, Dogan, Adrovic, Amra, Sahin, Sezgin, Caliskan, Salim, Chandrasekharappa, Settara C., Hasni, Sarfaraz A., Ombrello, Amanda K., Gadina, Massimo, Kastner, Daniel L., Kaplan, Mariana J., Kasapcopur, Ozgur, Aksentijevich, Ivona
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.09.2017)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.09.2017)
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Chromosomal Instability Associated with Global DNA Hypomethylation is Associated with the Initiation and Progression of Esophageal Squamous Cell Carcinoma
Kawano, Hiroyuki, Saeki, Hiroshi, Kitao, Hiroyuki, Tsuda, Yasuo, Otsu, Hajime, Ando, Koji, Ito, Shuhei, Egashira, Akinori, Oki, Eiji, Morita, Masaru, Oda, Yoshinao, Maehara, Yoshihiko
Published in Annals of surgical oncology (01.12.2014)
Published in Annals of surgical oncology (01.12.2014)
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Detection of a new heterozygous germline ETV6 mutation in a case with hyperdiploid acute lymphoblastic leukemia
Duployez, Nicolas, Abou Chahla, Wadih, Lejeune, Sophie, Marceau‐Renaut, Alice, Letizia, Guillaume, Boyer, Thomas, Geffroy, Sandrine, Peyrouze, Pauline, Grardel, Nathalie, Nelken, Brigitte, Michel, Gérard, Bertrand, Yves, Preudhomme, Claude
Published in European journal of haematology (01.01.2018)
Published in European journal of haematology (01.01.2018)
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Abnormal chromosomes identification using chromosomal microarray
Shi, Yunfang, Li, Xiaozhou, Ju, Duan, Li, Yan, Zhang, Xiuling, Zhang, Ying
Published in Journal of obstetrics and gynaecology (18.08.2022)
Published in Journal of obstetrics and gynaecology (18.08.2022)
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Copy Number Variation Analysis Increases the Number of Candidate Loci Associated with Pediatric Obesity
Madeo, Simona Filomena, Stanghellini, Ilaria, Predieri, Barbara, Ciancia, Silvia, Leo, Francesco, Bruzzi, Patrizia, Calabrese, Olga, Iughetti, Lorenzo
Published in Hormone research in paediatrics (2021)
Published in Hormone research in paediatrics (2021)
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3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature
Nardecchia, Francesca, Caciotti, Anna, Giovanniello, Teresa, De Leo, Sabrina, Ferri, Lorenzo, Galosi, Serena, Santagata, Silvia, Torres, Barbara, Bernardini, Laura, Carducci, Claudia, Morrone, Amelia, Leuzzi, Vincenzo
Published in International journal of molecular sciences (16.04.2022)
Published in International journal of molecular sciences (16.04.2022)
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Etiologic evaluation and pregnancy outcomes of fetal growth restriction (FGR) associated with structural malformations
Wu, Xiaoqing, He, Shuqiong, Shen, Qingmei, Xu, Shiyi, Guo, Danhua, Liang, Bin, Wang, Xinrui, Cao, Hua, Huang, Hailong, Xu, Liangpu
Published in Scientific reports (22.04.2024)
Published in Scientific reports (22.04.2024)
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Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability
Van Bergen, Nicole J, Guo, Yiran, Al-Deri, Noraldin, Lipatova, Zhanna, Stanga, Daniela, Zhao, Sarah, Murtazina, Rakhilya, Gyurkovska, Valeriya, Pehlivan, Davut, Mitani, Tadahiro, Gezdirici, Alper, Antony, Jayne, Collins, Felicity, Willis, Mary J H, Coban Akdemir, Zeynep H, Liu, Pengfei, Punetha, Jaya, Hunter, Jill V, Jhangiani, Shalini N, Fatih, Jawid M, Rosenfeld, Jill A, Posey, Jennifer E, Gibbs, Richard A, Karaca, Ender, Massey, Sean, Ranasinghe, Thisara G, Sleiman, Patrick, Troedson, Chris, Lupski, James R, Sacher, Michael, Segev, Nava, Hakonarson, Hakon, Christodoulou, John
Published in Brain (London, England : 1878) (01.01.2020)
Published in Brain (London, England : 1878) (01.01.2020)
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8q Gain Has No Additional Predictive Value in SF3B1MUT Uveal Melanoma but Is Predictive for a Worse Prognosis in Patients with BAP1MUT Uveal Melanoma
Nguyen, Josephine Q.N., Drabarek, Wojtek, Vaarwater, Jolanda, Yavuzyigitoglu, Serdar, Verdijk, Robert M., Paridaens, Dion, Naus, Nicole C., de Klein, Annelies, Brosens, Erwin, Kiliç, Emine, Kilic, Emine, de Klein, Annelies, Brosens, Erwin, Naus, Nicole C., Paridaens, Dion, Yavuzyigitoglu, Serdar, Drabarek, Wojtek, Nguyen, Josephine Q.N., Vaarwater, Jolanda, Verdijk, Robert M.
Published in Ophthalmology science (Online) (01.03.2024)
Published in Ophthalmology science (Online) (01.03.2024)
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Multiple Segmental Uniparental Disomy Associated with Abnormal DNA Methylation of Imprinted Loci in Silver-Russell Syndrome
Dias, Renuka P., Bogdarina, Irina, Cazier, Jean-Baptiste, Buchanan, Charles, Donaldson, Malcolm C., Johnston, Linda B., Hokken-Koelega, Anita C., Clark, Adrian J. L.
Published in The journal of clinical endocrinology and metabolism (01.11.2012)
Published in The journal of clinical endocrinology and metabolism (01.11.2012)
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Suggestive linkage of familial mesial temporal lobe epilepsy to chromosome 3q26
Fanciulli, Manuela, Di Bonaventura, Carlo, Egeo, Gabriella, Fattouch, Jinane, Dazzo, Emanuela, Radovic, Slobodanka, Spadotto, Alessandro, Giallonardo, Anna Teresa, Nobile, Carlo
Published in Epilepsy research (01.02.2014)
Published in Epilepsy research (01.02.2014)
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A genome-wide survey of copy number variations in Han Chinese residing in Taiwan
Lin, Chien-Hsing, Lin, Ying-Chao, Wu, Jer-Yuarn, Pan, Wen-Harn, Chen, Yuan-Tsong, Fann, Cathy S.J.
Published in Genomics (San Diego, Calif.) (01.10.2009)
Published in Genomics (San Diego, Calif.) (01.10.2009)
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Genome-wide analysis of allelic imbalance in prostate cancer using the Affymetrix 50K SNP mapping array
Tørring, N, Borre, M, Sørensen, K D, Andersen, C L, Wiuf, C, Ørntoft, T F
Published in British journal of cancer (12.02.2007)
Published in British journal of cancer (12.02.2007)
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Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism
Devillard, Françoise, Guinchat, Vincent, Moreno‐De‐Luca, Daniel, Tabet, Anne‐Claude, Gruchy, Nicolas, Guillem, Pascale, Nguyen Morel, Marie‐Ange, Leporrier, Nathalie, Leboyer, Marion, Jouk, Pierre‐Simon, Lespinasse, James, Betancur, Catalina
Published in American journal of medical genetics. Part A (01.09.2010)
Published in American journal of medical genetics. Part A (01.09.2010)
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A Genome-Wide Copy Number Variant Study of Suicidal Behavior
Gross, Jeffrey A., Bureau, Alexandre, Croteau, Jordie, Galfalvy, Hanga, Oquendo, Maria A., Haghighi, Fatemeh, Mérette, Chantal, Giegling, Ina, Hodgkinson, Colin, Goldman, David, Rujescu, Dan, Mann, J. John, Turecki, Gustavo
Published in PloS one (26.05.2015)
Published in PloS one (26.05.2015)
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Determining genetic variants in children and adolescents suffering from tetralogy of Fallot with a positive family history: methodology
Sabri, Mohammad Reza, Gharipour, Mojgan, Tayebi, Naeimeh, Sadeghian, Ladan, Javanmard, Shaghayegh Haghjooy, Sarrafzadegan, Nizal
Published in Acta bio-medica : Atenei Parmensis (26.06.2020)
Published in Acta bio-medica : Atenei Parmensis (26.06.2020)
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