Karyotyping - Open Access .click

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A detailed inventory of DNA copy number alterations in four commonly used Hodgkin's lymphoma cell lines [PDF]

, 2007
Background and Objectives Classical Hodgkin's lymphoma (cHL) is a common malignant lymphoma characterized by the presence of large, usually multinucleated malignant Hodgkin and Reed Sternberg (HRS) cells which are thought to be derived from germinal ...
De Paepe, Anne +7 more
core +2 more sources

Cancer: From a Genetic Disorder to a Systemic Disease

Advanced Science, EarlyView.
Ada Hang‐Heng Wong, Yuming Hu
wiley +1 more source

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Apert syndrome is a recognizable craniofacial condition characterized by craniosynostosis, hypertelorism, exorbitism, midface hypoplasia, and complex symmetrical bony and cutaneous ‘mitten’ syndactyly of all four limbs. Around 98% of affected patients have one of two heterozygous missense variants in the FGFR2 gene, encoding either p ...
Ramy Saad +8 more
wiley +1 more source

Evaluation of an automated karyotyping system for chromosome aberration analysis [PDF]

Chromosome aberration analysis is a promising complement to conventional radiation dosimetry, particularly in the complex radiation fields encountered in the space environment.
Prichard, Howard M.
core +1 more source

Molecular Evaluation of exons 8 and 22 of the SHANK3 gene in Autism Spectrum Disorders [PDF]

, 2010
Autism spectrum disorders are a group of neurodevelopmental disorders with a complex and heterogeneous etiology. Studies have shown that genetic factors play an important role in the aetiology of these diseases.
A Barbosa-Gonç +5 more
core +1 more source

Array-based comparative genomic hybridization is more informative than conventional karyotyping and fluorescence in situ hybridization in the analysis of first-trimester spontaneous abortion

Molecular Cytogenetics, 2012
Array-based comparative genomic hybridization (aCGH) is a new technique for detecting submicroscopic deletions and duplications, and can overcome many of the limitations associated with classic cytogenetic analysis.
Jinsong Gao +9 more
semanticscholar +1 more source

Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nizon‐Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7‐year‐old female who presented with developmental delay, right‐leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin ...
Russell Stewart +336 more
wiley +1 more source

Chromosome analysis of arsenic affected cattle [PDF]

Veterinary World, 2014
Aim: The aim was to study the chromosome analysis of arsenic affected cattle. Materials and Methods: 27 female cattle (21 arsenic affected and 6 normal) were selected for cytogenetical study.
S. Shekhar +6 more
doaj

Fluorescent in-situ hybridization (FISH) for BCR/ABL in chronic myeloid leukemia after bone marrow transplantation [PDF]

, 2001
CONTEXT: Identification of Philadelphia chromosome or BCR/ABL gene rearrangement in chronic myeloid leukemia is important at diagnosis as well as after treatment.
Chauffaille, Maria de Lourdes Lopes Ferrari +3 more
core +3 more sources

Karyotyping, is it Worthwhile in Transsexualism?

The Journal of Sexual Medicine, 2011
ABSTRACT Introduction Karyotyping is often performed in transsexual individuals. Aim Quantification and characterization of karyotype findings and abnormalities in transsexual persons.
Gunter Heylens +7 more
openaire +3 more sources

karyotype
gene
genetics

zoology
evolutionary biology
botany

chromosome number
ploidy
prenatal diagnosis