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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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A pilot study on the impact of dopamine, serotonin, and brain-derived neurotrophic factor genotype on long-term functional outcomes after subarachnoid hemorrhage
Stanfill, Ansley, Simpson, Claire, Sherwood, Paula, Poloyac, Samuel, Crago, Elizabeth, Kim, Hyungsuk, Conley, Yvette
Published in SAGE open medicine (01.01.2017)
Published in SAGE open medicine (01.01.2017)
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The Genomic Landscape of Childhood Acute Lymphoblastic Leukemia
Roberts, Kathryn G., Brady, Samuel W., Gu, Zhaohui, Shi, Lei, Pounds, Stanley, Pei, Deqing, Cheng, Cheng, Dai, Yunfeng, Devidas, Meenakshi, Qu, Chunxu, Hill, Ashley, Ma, Xiaotu, Wei, Lei, Arunachalam, Sasi, Hagiwara, Kohei, Liu, Yangling, Flasch, Diane, Liu, Yu, Parker, Matthew, Chen, Xiaolong, Li, Yongjin, Fan, Yiping, Michael, Robert, Rusch, Michael, Wilkinson, Mark, Foy, Scott, Hedges, Dale, Newman, Scott, Zhou, Xin, Wang, Jian, Reshmi, Shalini C., Gastier-Foster, Julie M., Gesuwan, Patee, Smith, Malcolm A, Gerhard, Daniela S., Winick, Naomi, Carroll, Andrew J., Heerema, Nyla A., Harvey, Richard C., Willman, Cheryl L., Larsen, Eric, Raetz, Elizabeth A., Borowitz, Michael J., Wood, Brent L, Carroll, William L., Zweidler-McKay, Patrick A., Rabin, Karen R., Mattano, Leonard A., Maloney, Kelly, Winter, Stuart S., Burke, Michael J., Salzer, Wanda L., Dunsmore, Kimberly P., Angiolillo, Anne, Crews, Kristine R, Downing, James R., Jeha, Sima, Evans, William E., Pui, Ching-Hon, Yang, Jun J., Relling, Mary V., Hunger, Stephen P., Loh, Mignon L., Zhang, Jinghui, Mullighan, Charles G.
Published in Blood (13.11.2019)
Published in Blood (13.11.2019)
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Analysis of Shared Haplotypes amongst Palauans Maps Loci for Psychotic Disorders to 4q28 and 5q23-q31
Bodea, Corneliu A, Middleton, Frank A, Melhem, Nadine M, Klei, Lambertus, Song, Youeun, Tiobech, Josepha, Marumoto, Pearl, Yano, Victor, Faraone, Stephen V, Roeder, Kathryn, Myles-Worsley, Marina, Devlin, Bernie, Byerley, William
Published in Molecular neuropsychiatry (01.02.2017)
Published in Molecular neuropsychiatry (01.02.2017)
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Observations on Copy Number Variations in a Kidney-yang Deficiency Syndrome Family
Liu, Wei Wei, Gao, Yong Xiang, Zhou, Li Ping, Duan, Azure, Tan, Ling Ling, Li, Wan Zhen, Yan, Min, Yang, Hong Ya, Yan, Shi Lin, Wang, Mi Qu, Ding, Wei Jun
Published in Evidence-based complementary and alternative medicine (01.01.2011)
Published in Evidence-based complementary and alternative medicine (01.01.2011)
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Noninvasive prenatal testing in CLL during pregnancy: A cautionary tale
Assmann, Jorn L. J. C., Van Opstal, Diane, Diderich, Karin E. M., Larmonie, Nicole, Sandberg, Yorick
Published in EJHaem (01.02.2025)
Published in EJHaem (01.02.2025)
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Clinical and genetic analysis of ten Chinese pedigrees affected with 7q11.23 duplication syndrome
Shi, Panlai, Liu, Yongchao, Hou, Yaqin, Chen, Duo, Kong, Xiangdong
Published in Zhonghua yi xue yi chuan xue za zhi (10.02.2024)
Published in Zhonghua yi xue yi chuan xue za zhi (10.02.2024)
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Phenotypic and genetic analysis of a child with partial trisomy 7q
Wang, Chaojie, Li, Dongxiao, Zhang, Yaodong, Kong, Jinghui, Li, Rui, Gao, Chao, Shang, Qing, Zhang, Huichun
Published in Zhonghua yi xue yi chuan xue za zhi (10.05.2023)
Published in Zhonghua yi xue yi chuan xue za zhi (10.05.2023)
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Detection of a new heterozygous germline ETV 6 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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Clinical Significance of Genetic Mutations of CD79B, CARD11, MYD88, and EZH2 Genes in Diffuse Large B-Cell Lymphoma Patients
Iriyama, Chisako, Tomita, Akihiro, Tokunaga, Takashi, Sugiyama, Keisuke, Hiraga, Junji, Kinoshita, Tomohiro, Naoe, Tomoki
Published in Blood (18.11.2011)
Published in Blood (18.11.2011)
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Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study
Mundhofir, Farmaditya, Nillesen, Willy, Van Bon, Bregje, Smeets, Dominique, Pfundt, Rolph, de Ven-Schobers, Gaby, Ruiterkamp-Versteeg, Martina, Winarni, Tri, Hamel, Ben, Yntema, Helger, Faradz, Sultana
Published in Indian journal of human genetics (01.04.2013)
Published in Indian journal of human genetics (01.04.2013)
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Clinical analysis of monochorionic-diamniotic twins with genetic discordance
Tang, Lu, Pan, Pingshan, Sun, Weijia, Qin, Jie, Qin, Jiayi, Qin, Yuqin, Huang, Peng, Wei, Hongwei
Published in Zhonghua yi xue yi chuan xue za zhi (10.05.2023)
Published in Zhonghua yi xue yi chuan xue za zhi (10.05.2023)
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