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Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates
Yuan, Bo, Liu, Pengfei, Gupta, Aditya, Beck, Christine R., Tejomurtula, Anusha, Campbell, Ian M., Gambin, Tomasz, Simmons, Alexandra D., Withers, Marjorie A., Harris, R. Alan, Rogers, Jeffrey, Schwartz, David C., Lupski, James R.
Published in PLoS genetics (01.12.2015)
Published in PLoS genetics (01.12.2015)
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A copy number variation genotyping method for aneuploidy detection in spontaneous abortion specimens
Chen, Songchang, Liu, Deyuan, Zhang, Junyu, Li, Shuyuan, Zhang, Lanlan, Fan, Jianxia, Luo, Yuqin, Qian, Yeqing, Huang, Hefeng, Liu, Chao, Zhu, Huanhuan, Jiang, Zhengwen, Xu, Chenming
Published in Prenatal diagnosis (01.02.2017)
Published in Prenatal diagnosis (01.02.2017)
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Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations
Moysés-Oliveira, Mariana, Guilherme, Roberta dos Santos, Dantas, Anelisa Gollo, Ueta, Renata, Perez, Ana Beatriz, Haidar, Mauro, Canonaco, Rosane, Meloni, Vera Ayres, Kosyakova, Nadezda, Liehr, Thomas, Carvalheira, Gianna Maria, Melaragno, Maria Isabel
Published in Fertility and sterility (01.05.2015)
Published in Fertility and sterility (01.05.2015)
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Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS
Zhang, Feng, Potocki, Lorraine, Sampson, Jacinda B., Liu, Pengfei, Sanchez-Valle, Amarilis, Robbins-Furman, Patricia, Navarro, Alicia Delicado, Wheeler, Patricia G., Spence, J. Edward, Brasington, Campbell K., Withers, Marjorie A., Lupski, James R.
Published in American journal of human genetics (12.03.2010)
Published in American journal of human genetics (12.03.2010)
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Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate
Lindgren, Amelia M., Hoyos, Tatiana, Talkowski, Michael E., Hanscom, Carrie, Blumenthal, Ian, Chiang, Colby, Ernst, Carl, Pereira, Shahrin, Ordulu, Zehra, Clericuzio, Carol, Drautz, Joanne M., Rosenfeld, Jill A., Shaffer, Lisa G., Velsher, Lea, Pynn, Tania, Vermeesch, Joris, Harris, David J., Gusella, James F., Liao, Eric C., Morton, Cynthia C.
Published in Human genetics (01.05.2013)
Published in Human genetics (01.05.2013)
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Comprehensive Next-Generation Sequencing Analyses of Hypoparathyroidism: Identification of Novel GCM2 Mutations
Mitsui, Toshikatsu, Narumi, Satoshi, Inokuchi, Mikako, Nagasaki, Keisuke, Nakazawa, Mie, Sasaki, Goro, Hasegawa, Tomonobu
Published in The journal of clinical endocrinology and metabolism (01.11.2014)
Published in The journal of clinical endocrinology and metabolism (01.11.2014)
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Aberrations in Pseudoautosomal Regions (PARs) Found in Infertile Men with Y-Chromosome Microdeletions
Jorgez, Carolina J., Weedin, John W., Sahin, Aysegul, Tannour-Louet, Mounia, Han, Shuo, Bournat, Juan C., Mielnik, Anna, Cheung, Sau Wai, Nangia, Ajay K., Schlegel, Peter N., Lipshultz, Larry I., Lamb, Dolores J.
Published in The journal of clinical endocrinology and metabolism (01.04.2011)
Published in The journal of clinical endocrinology and metabolism (01.04.2011)
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High-Resolution Array CGH Analysis Identifies Regional Deletions and Amplifications of Chromosome 8 in Uveal Melanoma
Hammond, David W., Al-Shammari, Nawal S. D., Danson, Sarah, Jacques, Rhona, Rennie, Ian G., Sisley, Karen
Published in Investigative ophthalmology & visual science (01.06.2015)
Published in Investigative ophthalmology & visual science (01.06.2015)
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Genomic aberrations in pediatric diffuse intrinsic pontine gliomas
Warren, K. E., Killian, K., Suuriniemi, M., Wang, Y., Quezado, M., Meltzer, P. S.
Published in Neuro-oncology (Charlottesville, Va.) (01.03.2012)
Published in Neuro-oncology (Charlottesville, Va.) (01.03.2012)
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Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21
Pelleri, Maria Chiara, Cicchini, Elena, Petersen, Michael B., Tranebjærg, Lisbeth, Mattina, Teresa, Magini, Pamela, Antonaros, Francesca, Caracausi, Maria, Vitale, Lorenza, Locatelli, Chiara, Seri, Marco, Strippoli, Pierluigi, Piovesan, Allison, Cocchi, Guido
Published in Molecular genetics & genomic medicine (01.08.2019)
Published in Molecular genetics & genomic medicine (01.08.2019)
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Is cutis verticis Gyrata‐Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases
Tucci, Arianna, Pezzani, Lidia, Scuvera, Giulietta, Ronzoni, Luisa, Scola, Elisa, Esposito, Susanna, Milani, Donatella
Published in American journal of medical genetics. Part A (01.03.2017)
Published in American journal of medical genetics. Part A (01.03.2017)
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Forfeited hepatogenesis program and increased embryonic stem cell traits in young hepatocellular carcinoma (HCC) comparing to elderly HCC
Wang, Hsei-Wei, Hsieh, Tsung-Han, Huang, SSu-Yi, Chau, Gar-Yang, Tung, Chien-Yi, Su, Chien-Wei, Wu, Jaw-Ching
Published in BMC genomics (26.10.2013)
Published in BMC genomics (26.10.2013)
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Discordant sex in monozygotic XXY/XX twins: a case report
Tachon, G., Lefort, G., Puechberty, J., Schneider, A., Jeandel, C., Boulot, P., Prodhomme, O., Meyer, P., Taviaux, S., Touitou, I., Pellestor, F., Geneviève, D., Gatinois, V.
Published in Human reproduction (Oxford) (01.12.2014)
Published in Human reproduction (Oxford) (01.12.2014)
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Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma
Wyatt, Alexander, Bakrania, Preeti, Bunyan, David J., Osborne, Robert J., Crolla, John A., Salt, Alison, Ayuso, Carmen, Newbury-Ecob, Ruth, Abou-Rayyah, Y., Collin, J. Richard O., Robinson, David, Ragge, Nicola
Published in Human mutation (01.11.2008)
Published in Human mutation (01.11.2008)
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SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements
Uehara, Daniela Tiaki, Hayashi, Shin, Okamoto, Nobuhiko, Mizuno, Seiji, Chinen, Yasutsugu, Kosaki, Rika, Kosho, Tomoki, Kurosawa, Kenji, Matsumoto, Hiroshi, Mitsubuchi, Hiroshi, Numabe, Hironao, Saitoh, Shinji, Makita, Yoshio, Hata, Akira, Imoto, Issei, Inazawa, Johji
Published in Journal of human genetics (01.04.2016)
Published in Journal of human genetics (01.04.2016)
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Effects of Copy Number Variations on Developmental Aspects of Children With Delayed Development
Park, Kee-Boem, Nam, Kyung Eun, Cho, Ah-Ra, Jang, Woori, Kim, Myungshin, Park, Joo Hyun
Published in Annals of rehabilitation medicine (01.04.2019)
Published in Annals of rehabilitation medicine (01.04.2019)
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Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy
Lacey, Cameron J., Doudney, Kit, Bridgman, Paul G., George, Peter M., Mulder, Roger T., Zarifeh, Julie J., Kimber, Bridget, Cadzow, Murray J., Black, Michael A., Merriman, Tony R., Lehnert, Klaus, Bickley, Vivienne M, Pearson, John F., Cameron, Vicky A., Kennedy, Martin A.
Published in Scientific reports (15.05.2018)
Published in Scientific reports (15.05.2018)
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The Presence of p53 Mutations in Human Osteosarcomas Correlates with High Levels of Genomic Instability
Overholtzer, Michael, Rao, Pulivarthi H., Favis, Reyna, Lu, Xin-Yan, Elowitz, Michael B., Barany, Francis, Ladanyi, Marc, Gorlick, Richard, Levine, Arnold J.
Published in Proceedings of the National Academy of Sciences - PNAS (30.09.2003)
Published in Proceedings of the National Academy of Sciences - PNAS (30.09.2003)
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