Results 201 to 210 of about 92,178 (328)

Defining Regions and Rearrangements of the Silene latifolia Y Chromosome [PDF]

, 2008
Roberta Bergero, Deborah Charlesworth, Dmitry A. Filatov, Richard C. Moore   +3 more
openalex   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

ChromoPattern: characterizing chromosomal rearrangement patterns of copy number alteration in heterogeneous tumor cell populations at single-cell resolution. [PDF]

Brief Bioinform
Wang X, Zhang M, Li H, Deng Y, Wang Y, Zhang Y, Wang H, Wang Z, Wang F, Zhang S.   +9 more
europepmc   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

The genomic structure of complex chromosomal rearrangement at the Fm locus in black-bone Silkie chicken. [PDF]

Commun Biol
Sharma A, Vijay N.
europepmc   +1 more source

Chromosome 5 Rearrangement [PDF]

, 2020
openaire   +1 more source

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

Atypical Genotypes for Canine Agouti Signaling Protein Suggest Novel Chromosomal Rearrangement. [PDF]

Genes (Basel), 2020
Dreger DL, Anderson H, Donner J, Clark JA, Dykstra A, Hughes AM, Ekenstedt KJ.   +6 more
europepmc   +1 more source

Proteomic Changes in Cancer Cell Lines as a Result of Bacterial Infection

PROTEOMICS, EarlyView.
ABSTRACT Bacterial infections have been implicated in shaping the tumor microenvironment (TME), but their effects on cancer cell proteomes remain unexplored. In this study, we analyzed proteomic changes in melanoma (A375) and ovarian cancer (OVCAR3) cell line models following infection with Staphylococcus aureus strain USA300 or Salmonella enterica ...
Bo Ren, Kenneth Weke, Darryl Hardie, Mariya I. Goncheva, Ted Hupp, Javier Antonio Alfaro, Helena Pětrošová, David R. Goodlett   +7 more
wiley   +1 more source

Reply to: The genomic structure of complex chromosomal rearrangement at the Fm locus in black-bone Silkie chicken. [PDF]

Commun Biol
Zhao QS, Zhu F, Hou ZC.
europepmc   +1 more source