DNA methylation represses FMR-1 transcription in fragile X syndrome
…, F Zhang, M Pieretti, CT Caskey, D Saxe… - Human molecular …, 1992 - academic.oup.com
Fragile X syndrome is the most frequent form of inherited mental retardation and segregates
as an X-linked dominant with reduced penetrance. Recently, we have identified the FMR-1 …
as an X-linked dominant with reduced penetrance. Recently, we have identified the FMR-1 …
Evolution and organization of the fibrinogen locus on chromosome 4: gene duplication accompanied by transposition and inversion.
JA Kant, AJ Fornace Jr, D Saxe… - Proceedings of the …, 1985 - National Acad Sciences
Human fibrinogen cDNA probes for the alpha-, beta-, and gamma-polypeptide chains have
been used to isolate the corresponding genes from human genomic libraries. There is a …
been used to isolate the corresponding genes from human genomic libraries. There is a …
NUT Midline Carcinoma in a Newborn with Multiorgan Disseminated Tumor and a 2-Year-Old with a Pancreatic/Hepatic Primary
…, TA Olson, CA French, DF Saxe… - Pediatric and …, 2010 - journals.sagepub.com
NUT midline carcinoma (NMC) is a rare and aggressive malignant epithelial tumor defined
by rearrangement of the NUT gene on chromosome 15. In two thirds of cases, NUT is …
by rearrangement of the NUT gene on chromosome 15. In two thirds of cases, NUT is …
Recent advances in cytogenetic characterization of multiple myeloma
D Saxe, EJ Seo, M Beaulieu Bergeron… - International journal of …, 2019 - Wiley Online Library
The detection of cytogenetic abnormalities in multiple myeloma ( MM ) has received more
importance over last years for risk stratification and the new risk‐adapted treatment strategies. …
importance over last years for risk stratification and the new risk‐adapted treatment strategies. …
Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative …
…, DL Van Dyke, BF Crandall, DF Saxe… - … in Affiliation With the …, 1996 - Wiley Online Library
Among 179 663 prenatal diagnosis cases collected from ten institutions and two publications,
555 (0·3 per cent) were diagnosed as having chromosome mosaicism. Of these, 57 (10·3 …
555 (0·3 per cent) were diagnosed as having chromosome mosaicism. Of these, 57 (10·3 …
[HTML][HTML] Clinical validation and implementation of a targeted next-generation sequencing assay to detect somatic variants in non-small cell lung, melanoma, and …
We tested and clinically validated a targeted next-generation sequencing (NGS) mutation
panel using 80 formalin-fixed, paraffin-embedded (FFPE) tumor samples. Forty non-small cell …
panel using 80 formalin-fixed, paraffin-embedded (FFPE) tumor samples. Forty non-small cell …
Complex karyotype in patients with mantle cell lymphoma predicts inferior survival and poor response to intensive induction therapy
…, AD Staton, MJ Lee, JM Switchenko, DF Saxe… - Cancer, 2018 - Wiley Online Library
BACKGROUND Risk stratification of newly diagnosed patients with mantle cell lymphoma (MCL)
primarily is based on the MCL International Prognostic Index (MIPI) and Ki‐67 …
primarily is based on the MCL International Prognostic Index (MIPI) and Ki‐67 …
Hematopoietic stem cells with high proliferative potential: Assay of their concentration in marrow by the frequency and duration of cure of W/W v mice
DR Boggs, SS Boggs, DF Saxe… - The Journal of …, 1982 - Am Soc Clin Investig
This study was designed to approach two primary questions concerning hematopoietic stem
cells (HSC) in mice: what is the concentration of HSC with extensive proliferative potential in …
cells (HSC) in mice: what is the concentration of HSC with extensive proliferative potential in …
[HTML][HTML] Clinical validation and diagnostic utility of optical genome mapping for enhanced cytogenomic analysis of hematological neoplasms
…, T Tvrdik, J Hauenstein, H Shi, KK Deeb, D Saxe… - The Journal of Molecular …, 2022 - Elsevier
The current standard-of-care cytogenetic techniques for the analysis of hematological
malignancies include karyotyping, fluorescence in situ hybridization, and chromosomal microarray…
malignancies include karyotyping, fluorescence in situ hybridization, and chromosomal microarray…
The T cell receptor β chain genes are located on chromosome 6 in mice and chromosome 7 in humans
N Caccia, M Kronenberg, D Saxe, R Haars, GAP Bruns… - Cell, 1984 - cell.com
Homologous clones that encode the p chain of the T cell antigen receptor have been isolated
recently from both murine and human cDNA libraries. These cDNA clones have been used …
recently from both murine and human cDNA libraries. These cDNA clones have been used …