Results 61 to 70 of about 43,589 (247)

Human gene copy number spectra analysis in congenital heart malformations [PDF]

, 2012
The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined.
Bick, David P., Broeckel, Ulrich, Goetsch, Mary A., Harris, Susan, Hidestrand, Mats, Mahnke, Donna K., Mitchell, Michael, Pelech, Andrew N., Simpson, Pippa, Stamm, Karl D., Struble, Craig, Tomita-Mitchell, Aoy, Tuffnell, Maureen E., Tweddell, James S.   +13 more
core   +2 more sources

Molecular basis of aggressive disease in chronic lymphocytic leukemia patients with 11q deletion and trisomy 12 chromosomal abnormalities

International Journal of Molecular Medicine, 2007
In B-cell chronic lymphocytic leukemia (CLL), Rai stage, immunoglobulin gene mutational status, chromosomal abnormalities, CD38 and ZAP-70 expression were used as prognostic markers. In this study, to understand the molecular basis of chromosomal abnormalities leading to tumor progression, 90 CLL patients were grouped into poor prognosis (with 11q ...
Amit K, Mittal, Ganapati V, Hegde, Patricia, Aoun, Robert G, Bociek, Bhavana J, Dave, Avadhut D, Joshi, Warren G, Sanger, Dennis D, Weisenburger, Shantaram S, Joshi   +8 more
openaire   +3 more sources

Establishment of a new Epstein-Barr virus-immortalized cell line from chronic lymphocytic leukemia with trisomy of chromosome 12 that produces monoclonal IgM against a sheep RBC antigen [PDF]

Blood, 1988
Leukemia cells from a patient with chronic lymphocytic leukemia (CLL) were found to bind sheep RBC (SRBC) through their monoclonal surface IgM. A lymphoblastoid cell line was obtained by immortalization of leukemic cells with Epstein-Barr virus (EBV).
CRESCENZI M, NAPOLITANO M, CARBONARI, Maurizio, ANTONELLI, Anna, PETRINELLI, Paola, GAETANO C, FIORILLI, Massimo   +6 more
openaire   +4 more sources

The 3‐Hit Metabolic Signaling Model for Autism Spectrum Disorder: A Summary

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a highly heritable yet environmentally sensitive neurodevelopmental condition whose biological heterogeneity has resisted a unifying causal explanation for over 100 years. The 3‐hit metabolic signaling model proposes that ASD arises from abnormal persistence of an evolutionarily conserved stress‐response ...
Robert K. Naviaux
wiley   +1 more source

Mosaic trisomy 22 at amniocentesis: Prenatal diagnosis and literature review

Taiwanese Journal of Obstetrics & Gynecology, 2019
Objective: We present prenatal diagnosis of mosaic trisomy 22 at amniocentesis in a pregnancy with facial cleft, oligohydramnios and intrauterine growth restriction (IUGR), and we review the literature.
Chih-Ping Chen, Ming-Chao Huang, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Tzu-Yun Chuang, Dai-Dyi Town, Wayseen Wang   +7 more
doaj   +1 more source

Distribution of chromosome 18 and X centric heterochromatin in the interphase nucleus of cultured human cells [PDF]

, 1990
In situ hybridization of human chromosome 18 and X-specific alphoid DNA-probes was performed in combination with three dimensional (3D) and two dimensional (2D) image analysis to study the interphase distribution of the centric heterochromatin (18c and ...
Agard, Arnoldus, Avivi, Baumann, Belmont, Bennett, Blobel, Borden, Brakenhoff, Brinkley, Comings, Comings, Cremer, Cremer, Cremer, Cremer, Cremer, Cremer, Cremer, Cremer, Devilee, Devilee, Emmerich, Guttenbach, Hadlaczky, Hayflick, Hens, Heslop-Harrison, Hilliker, Hopman, Hopman, Hubert, Johnson, Jovin, Kuhn, Landegent, Langer, Lichter, Lichter, Manuelidis, Manuelidis, Manuelidis, Manuelidis, Mathog, Nederlof, O'Brien, Ochs, Oud, Pinkel, Rappold, Rappold, Rawlins, Rosa, Sachs, Schardin, Schmid, Schroeder, Schwarzacher, Schwarzacher, Stelzer, Vogel, Wijnaendts-van-Resandt, Wollenberg, Yang   +63 more
core   +1 more source

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source

Partial monosomy 13q (13q21.32→qter) and partial trisomy 8p (8p12→pter) presenting with anencephaly and increased nuchal translucency: array comparative genomic hybridization characterization

Taiwanese Journal of Obstetrics & Gynecology, 2011
Objective: To present array comparative genomic hybridization (aCGH) characterization of partial monosomy 13q (13q21.32→qter) and partial trisomy 8p (8p12→pter) presenting with anencephaly and increased nuchal translucency (NT).
Chih-Ping Chen, Yi-Ning Su, Fuu-Jen Tsai, Ming-Huei Lin, Pei-Chen Wu, Schu-Rern Chern, Chen-Chi Lee, Chen-Wen Pan, Wayseen Wang   +8 more
doaj   +1 more source

Upregulation of long noncoding RNA MIAT in aggressive form of chronic lymphocytic leukemias. [PDF]

, 2016
Long noncoding RNAs (lncRNAs) are non-proten-coding transcripts of more than 200 nucleotides generated by RNA polymerase II and their expressions are tightly regulated in cell type specific- and/or cellular differential stage specific- manner.
Croce, Carlo M, Kipps, Thomas J, Moshiri, Farzaneh, Nakamura, Tatsuya, Ngankeu, Apollinaire, Sattari, Arash, Siddiqui, Hasan   +6 more
core   +2 more sources

Genetic testing for familial epilepsies: Diagnostic yield and genetic findings

Epilepsia, EarlyView.
Abstract Objective Genetic testing has become a routine part of clinical epilepsy care. Family history is an indication for genetic testing, but the diagnostic yield, predictors of a genetic diagnosis, and association with familial patterns are not well understood.
Colin A. Ellis, Juliette Copeland, Isabella Velez, Karen L. Oliver, Hannah Shalaby, Aaron Baldwin, Caren Armstrong, Amanda Back, Brianna Berlin, Stacey Cohen, Vishnu Anand Cuddapah, Danielle deCampo, Holly Dubbs, Natalie Ginn, Alicia G. Harrison, Naomi Lewin, Laina Lusk, Eric D. Marsh, Shavonne L. Massey, Pamela Pojomovsky McDonnell, Jillian L. McKee, Xilma Ortiz‐Gonzalez, Anna J. Prentice, Katie Rose Sullivan, Sarah M. Ruggiero, Mark P. Fitzgerald, Ethan M. Goldberg, Ingo Helbig   +27 more
wiley   +1 more source