Results 71 to 80 of about 148,275 (313)

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Genetic structure of the population of Przewalski’s horse (Equus przewalskii) according to cytogenetic and ISSR markers

Біологічні студії
Background. Przewalski’s horse is included in the Red List of the International Union for Conservation of Nature and the Red Data Book of Ukraine as an endangered species.
Lyubov Starodub, Mykola Porhun, Nataliya Mokhnachova, Andrii Berezovsky, Nataliya Yasinetska, Kyrylo Kopylov   +5 more
doaj   +1 more source

CYTOGENETIC ANALYSIS OF PATIENTS WITH AMBIGUOUS GENITALIA

Pakistan Armed Forces Medical Journal, 2021
Objective: To determine the magnitude and classification of cases of ambiguous genitalia presenting to our setup. Study Design: Cross-sectional study.
Sara Ali Zaidi, Asad Mahmood, Rafia Mahmood, Aamna Latif, Helen Mary Robert, Sarah Fatimah   +5 more
doaj  

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Нypeгtriploidy as a cause of early embryonic arrest

Фундаментальная и клиническая медицина, 2020
Chromosomal abnormalities are a leading cause of early embryonic arrest Identification of genetic abnormalities incompatible with embryonic development significantly contributes to the understanding of early embryonic arrest causes and to the development
A. N. Volkov, L. V. Nacheva
doaj   +1 more source

Contract to extend the usefullness of cytogenetic methodology as a research technique and as a biomedical monitoring procedure Quarterly progress report 1 Jan. - 30 Jun. 1966 [PDF]

Automatic cytogenetic analysis system with digital computer, scanning device, and microscope for mitotic cell detection and ...
Wald, N.
core   +1 more source

Analysis of imatinib in bone marrow and plasma samples of chronic myeloid leukaemia patients using solid phase extraction LC-ESI-MS [PDF]

, 2011
The LC-ESI-MS was developed and validated for the analysis of imatinib in plasma and bone marrow samples using deuterated imatinib (D(8)-IM) as an internal standard. The biological samples were extracted using Strata-X-C SPE cartridges and separated on C&
Elliott, M., Holyoake, T.L., Iqbal, Z., Jorgensen, H.G., Watson, D.G.   +4 more
core   +1 more source

FLT3 Length Mutations as Marker for Follow-Up Studies in Acute Myeloid Leukaemia [PDF]

, 2004
Length mutations within the FLT3 gene (FLT3-LM) can be found in 23% of acute myeloid leukaemia (AML) and thus are the most frequent mutations in AML. FLT3-LM are highly correlated with AML with normal karyotype and other cytogenetic aberrations of the ...
Haferlach, Torsten, Hiddemann, Wolfgang, Kern, Wolfgang, Schnittger, Susanne, Schoch, Claudia   +4 more
core   +1 more source

MicroCT reinvestigation of the only articulated fossil anostomid fish reveals synonymy of Arhinolemur Ameghino, 1898 and Megaleporinus Ramirez et al., 2017

The Anatomical Record, EarlyView.
Abstract Arhinolemur scalabrinii† Ameghino, 1898 was originally described as a strepsirrhine primate (Mammalia) but has been recognized as an anostomid fish since 2012. It remains the only extinct anostomid species known from complete cranial material.
Karen M. Panzeri, Humberto L. Andrelino, Sergio Bogan, José P. O'Gorman, Federico Agnolín, Brian L. Sidlauskas, Nahuel Vega, Agustín G. Martinelli, José L. Birindelli   +8 more
wiley   +1 more source

The correlation between micronuclei count and smoking behavior: A hospital-based study

Journal of Oral Research, 2020
Background: Micronucleus is a microscopically visible cyto-plasmic chromatin mass in the extranuclear vicinity, originating from aberrant mitosis, which consists of eccentric chromosomes that have failed to reach spindle poles during mitosis. The present
Lakshmi Balraj, UnniKrishnan K, Tejavathi Nagaraj   +2 more
doaj   +1 more source