Results 51 to 60 of about 43,589 (247)

Analysis of Down syndrome failed to be diagnosed after prenatal screening: A multicenter study. [PDF]

, 2017
To analyze the characters of Down syndrome (DS) who failed to be diagnosed after prenatal screening and hope to be able to improve the programs of prenatal screening and reduce the missed diagnosis of DS.
Ding, Jie, Jiang, Tao, Wang, Ting, Yu, Bin, Zhang, Bin, Zhang, Xiao-Juan, Zhang, Xiao-Qing   +6 more
core   +1 more source

Development of plasma cell myeloma in a B-cell chronic lymphocytic leukemia patient with chromosome 12 trisomy

BMC Research Notes, 2013
Cancer development results from the progressive accumulation of genomic abnormalities that culminate in the neoplastic phenotype. Cytogenetic alterations, mutations and rearrangements may be considered as molecular legacy which trace the clonal history of the disease.
Pereira, Welbert, Bacal, Nydia, Correia, Rodolfo, Kanayama, Ruth, Veloso, Elvira, Borri, Daniela, Hamerschlak, Nelson, Campregher, Paulo   +7 more
openaire   +2 more sources

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Nuchal translucency: an ultrasound marker for fetal chromosomal abnormalities

São Paulo Medical Journal, 2001
CONTEXT: The literature shows an association between several ultrasound markers and chromosome abnormality. Among these, measurement of nuchal translucency has been indicated as a screening method for aneuploidy.
Gregório Lorenzo Acácio, Ricardo Barini, Walter Pinto Júnior, Renato Luís Silveira Ximenes, Heverton Pettersen, Marcos Faria   +5 more
doaj   +1 more source

A Female Patient with Down Syndrome and Low-Penetrance Leber's Hereditary Optic Neuropathy. [PDF]

, 2014
We present the case of a 19-year-old female with a history of Down syndrome (DS) who was referred to our neuro-ophthalmology clinic for evaluation of Leber's hereditary optic neuropathy (LHON).
Frousiakis, Starleen E, Karanjia, Rustum, Pouw, Andrew E, Sadun, Alfredo A   +3 more
core   +3 more sources

Molecular characterization of the A52 murine hepatocellular carcinoma cell line

Animal Models and Experimental Medicine, EarlyView.
Hepatocellular carcinoma (HCC) is a poor outcome cancer with limited therapeutic choices. To advance therapeutic development we genetically characterized the A52 murine HCC cell line. We noted genetic changes that match a subset of human HCC and this offers the opportunity to test novel targeted therapies in syngeneic mice.
Rhys Gillman, Eun Jin Sun, Miriam Wankell, Matt A. Field, Ulf Schmitz, Lionel Hebbard   +5 more
wiley   +1 more source

Allelic segregation and independent assortment in T. brucei crosses: proof that the genetic system is Mendelian and involves meiosis [PDF]

, 2005
The genetic system on Trypanosoma brucei has been analysed by generating large numbers of independent progeny clones from two crosses, one between two cloned isolates of Trypanosoma brucei brucei and one between cloned isolates of T. b.
Annette MacLeod, Alison Tweedie, Sarah McLellan, Sonya Taylor, Anneli Cooper, Lindsay Sweeney, C. Michael R. Turner, Andy Tait, Hoare, Gibson, Tibayrenc, MacLeod, MacLeod, MacLeod, Gibson, Turner, Jenni, Sternberg, Gibson, Tait, Gibson, Le Page, Paindovoine, Hope, Su, Su, Martinelli, Culleton, Martinelli, Su, Shirley, Tait, MacLeod, El-Sayed, Hall, Benson, Gaunt, Tait, Gibson, Schweizer, Gibson, Gibson, Hassold, Hide, Van Den Abbeele   +44 more
core   +1 more source

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, EarlyView.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells

Taiwanese Journal of Obstetrics & Gynecology, 2014
Objective: Prenatal detection of trisomy 8 mosaicism can be misleading and remains challenging in genetic counseling. Identifying cases of partial or complete trisomy 8 mosaicism will highlight the pitfalls of conventional karyotyping in prenatal ...
Meng-Che Tsai, Hsueh-Yin Cheng, Mei-Tsz Su, Ming Chen, Pao-Lin Kuo   +4 more
doaj   +1 more source

A survey of chromosome anomalies in Malta [PDF]

, 1989
433 individuals referred for chromosome analysis between 1983 and 1987 were included in the survey. Among individuals with dysmorphic features or congenital anomalies 42% of babies referred in the neonatal period and 12 to 30% of individuals in older age
Cuschieri, Alfred, Gauci, Sandra
core