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Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications
Di Gregorio, Eleonora, Gai, Giorgia, Botta, Giovanni, Calcia, Alessandro, Pappi, Patrizia, Talarico, Flavia, Savin, Elisa, Ribotta, Marisa, Zonta, Andrea, Mancini, Cecilia, Giorgio, Elisa, Cavalieri, Simona, Restagno, Gabriella, Ferrero, Giovanni B., Viora, Elsa, Pasini, Barbara, Grosso, Enrico, Brusco, Alfredo, Brussino, Alessandro
Published in Cytogenetic and genome research (01.01.2015)
Published in Cytogenetic and genome research (01.01.2015)
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Journal Article
Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements
Sahoo, Trilochan, Shaw, Chad A., Young, Andrew S., Whitehouse, Nathan L., Schroer, Richard J., Stevenson, Roger E., Beaudet, Arthur L.
Published in American journal of medical genetics. Part A (01.12.2005)
Published in American journal of medical genetics. Part A (01.12.2005)
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Journal Article
Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum
Fuke, Tomoko, Nakamura, Akie, Inoue, Takanobu, Kawashima, Sayaka, Hara, Kaori Isono, Matsubara, Keiko, Sano, Shinichiro, Yamazawa, Kazuki, Fukami, Maki, Ogata, Tsutomu, Kagami, Masayo
Published in The journal of clinical endocrinology and metabolism (01.03.2021)
Published in The journal of clinical endocrinology and metabolism (01.03.2021)
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Journal Article
TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia
Ogata, Tsutomu, Niihori, Tetsuya, Tanaka, Noriko, Kawai, Masahiko, Nagashima, Takeshi, Funayama, Ryo, Nakayama, Keiko, Nakashima, Shinichi, Kato, Fumiko, Fukami, Maki, Aoki, Yoko, Matsubara, Yoichi
Published in PloS one (17.03.2014)
Published in PloS one (17.03.2014)
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Journal Article
Comparative genomic hybridization on microarray (a-CGH) in olfactory neuroblastoma: Analysis of ten cases and review of the literature
Valli, Roberto, De Bernardi, Francesca, Frattini, Annalisa, Volpi, Luca, Bignami, Maurizio, Facchetti, Fabio, Pasquali, Francesco, Castelnuovo, Paolo, Maserati, Emanuela
Published in Genes chromosomes & cancer (01.12.2015)
Published in Genes chromosomes & cancer (01.12.2015)
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Journal Article
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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Journal Article
Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication
Piard, Juliette, Philippe, Christophe, Marvier, Marie, Beneteau, Claire, Roth, Virginie, Valduga, Mylène, Béri, Mylène, Bonnet, Céline, Grégoire, Marie-José, Jonveaux, Philippe, Leheup, Bruno
Published in American journal of medical genetics. Part A (01.08.2010)
Published in American journal of medical genetics. Part A (01.08.2010)
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Journal Article
Copy Number Variations Due to Large Genomic Deletion in X-Linked Chronic Granulomatous Disease
Arai, Takashi, Oh-ishi, Tsutomu, Yamamoto, Hideaki, Nunoi, Hiroyuki, Kamizono, Junji, Uehara, Masahiko, Kubota, Takeo, Sakurai, Takuya, Kizaki, Takako, Ohno, Hideki
Published in PloS one (27.02.2012)
Published in PloS one (27.02.2012)
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Journal Article
An Improved Breast Epithelial Sampling Method for Molecular Profiling and Biomarker Analysis in Women at Risk for Breast Cancer
Danforth, David N., Warner, Andrew C., Wangsa, Darawalee, Ried, Thomas, Duelli, Dominik, Filie, Armando C., Prindiville, Sheila A.
Published in Breast Cancer: Basic and Clinical Research (01.01.2015)
Published in Breast Cancer: Basic and Clinical Research (01.01.2015)
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Journal Article
A Case Report of Xp21 Contiguous Gene Syndrome: Adrenal Hypoplasia Congenita, Glycerol Kinase Deficiency, and Duchenne Muscular Dystrophy
Kara, Cengiz, Yilmaz, Gulay Can, Bitkin, Eda Celebi, Aydin, Murat
Published in Journal of clinical research in pediatric endocrinology (01.06.2016)
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Published in Journal of clinical research in pediatric endocrinology (01.06.2016)
Journal Article
Chromosome 15q BP4-BP5 Deletion in a Girl with Nocturnal Frontal Lobe Epilepsy, Migraine, Circumscribed Hypertrichosis, and Language Impairment
Pavone, Piero, Pappalardo, Xena Giada, Nelly Ohazuruike, Ugochi Ngaobiri, Striano, Pasquale, Parisi, Pasquale, Corsello, Giovanni, Marino, Simona Domenica, Ruggieri, Martino, Parano, Enrico, Falsaperla, Raffaele
Published in Journal of epilepsy research (01.12.2020)
Published in Journal of epilepsy research (01.12.2020)
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Journal Article
A Case Report of Xp21 Contiguous Gene Syndrome: Adrenal Hypoplasia Congenita, Glycerol Kinase Deficiency, and Duchenne Muscular Dystrophy
Kara, Cengiz, Yilmaz, Gülay Can, Bitkin, Eda Çelebi, Aydin, Murat
Published in Journal of clinical research in pediatric endocrinology (01.06.2016)
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Published in Journal of clinical research in pediatric endocrinology (01.06.2016)
Journal Article
An Improved Breast Epithelial Sampling Method for Molecular Profiling and Biomarker Analysis in Women at Risk for Breast Cancer
David N. Danforth, Andrew C. Warner, Darawalee Wangsa, Thomas Ried, Dominik Duelli, Armando C. Filie, Sheila A. Prindiville
Published in Breast cancer : basic and clinical research (01.01.2015)
Published in Breast cancer : basic and clinical research (01.01.2015)
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Journal Article
TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia: e91598
Ogata, Tsutomu, Niihori, Tetsuya, Tanaka, Noriko, Kawai, Masahiko, Nagashima, Takeshi, Funayama, Ryo, Nakayama, Keiko, Nakashima, Shinichi, Kato, Fumiko, Fukami, Maki
Published in PloS one (01.03.2014)
Published in PloS one (01.03.2014)
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Journal Article
Gene expression profiling identifies emerging oncogenic pathways operating in extranodal NK/T-cell lymphoma, nasal type
Huang, Yenlin, de Reyniès, Aurélien, de Leval, Laurence, Ghazi, Bouchra, Martin-Garcia, Nadine, Travert, Marion, Bosq, Jacques, Brière, Josette, Petit, Barbara, Thomas, Emilie, Coppo, Paul, Marafioti, Teresa, Emile, Jean-François, Delfau-Larue, Marie-Hélène, Schmitt, Christian, Gaulard, Philippe
Published in Blood (11.02.2010)
Published in Blood (11.02.2010)
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Journal Article
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
Shinawi, Marwan, Liu, Pengfei, Kang, Sung-Hae L, Shen, Joseph, Belmont, John W, Scott, Daryl A, Probst, Frank J, Craigen, William J, Graham, Brett H, Pursley, Amber, Clark, Gary, Lee, Jennifer, Proud, Monica, Stocco, Amber, Rodriguez, Diana L, Kozel, Beth A, Sparagana, Steven, Roeder, Elizabeth R, McGrew, Susan G, Kurczynski, Thaddeus W, Allison, Leslie J, Amato, Stephen, Savage, Sarah, Patel, Ankita, Stankiewicz, Pawel, Beaudet, Arthur L, Cheung, Sau Wai, Lupski, James R
Published in Journal of medical genetics (01.05.2010)
Published in Journal of medical genetics (01.05.2010)
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Journal Article
NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype–phenotype correlation
Pehlivan, Davut, Hullings, Melanie, Carvalho, Claudia M.B., Gonzaga-Jauregui, Claudia G., Loy, Elizabeth, Jackson, Laird G., Krantz, Ian D., Deardorff, Matthew A., Lupski, James R.
Published in Genetics in medicine (01.03.2012)
Published in Genetics in medicine (01.03.2012)
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Journal Article
Gene expression profiling identifies emerging oncogenic pathways operating in extranodal NK/T-cell lymphoma, nasal type: Molecular Signature of Nasal NK/T-cell Lymphomas
Huang, Yenlin, de Reyniès, Aurélien, de Leval, Laurence, Ghazi, Bouchra, Martin-Garcia, Nadine, Travert, Marion, Bosq, Jacques, Brière, Josette, Petit, Barbara, Thomas, Emilie, Coppo, Paul, Marafioti, Teresa, Emile, Jean-François, Delfau-Larue, Marie-Hélène, Schmitt, Christian, Gaulard, Philippe
Published in Blood (11.02.2010)
Published in Blood (11.02.2010)
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Journal Article