Karyotyping Concept

Vocabulary Service

MeSH

Overview

subject area of

A Male Phenotype With Aicardi Syndrome Journal Articles
A further case of confined placental mosaicism for trisomy 2 associated with adverse pregnancy outcome Journal Articles
A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: A clinical and genetic study Journal Articles
A patient-derived cellular model for Huntington’s disease reveals phenotypes at clinically relevant CAG lengths Journal Articles
A prenatally recognizable malformation syndrome associated with a recurrent post‐zygotic chromosome rearrangement der(Y)t(Y;1)(q12:q21) Journal Articles
A report of recurrent anencephaly with trisomy 2p23-2pter: additional evidence for the involvement of 2p24 in neural tube development and evaluation of the role for cytogenetic analysis Journal Articles
Acute Lymphoblastic Leukemia in a Patient With Constitutional Chromosome 1pter-p36.31 Duplication and 1q43-qter Deletion Journal Articles
Amplified KpnL repetitive DNA sequences in homogeneously staining regions of a human melanoma cell line. Journal Articles
Amplified sequences from chromosome 15, including centromeres, nucleolar organizer regions, and centromeric heterochromatin, in homogeneously staining regions in the human melanoma cell line MeWo Journal Articles
An inherited pericentric chromosomal inversion (46, inv3 [p-q+]) associated with skeletal anomalies Journal Articles
An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster Journal Articles
Aniridia--Wilms' tumour association--a case with 11p 13-14.1 deletion and ventricular septal defect. Journal Articles
Assessment of the early risks of chorionic villus sampling. Journal Articles
Assignment by deletion of human red cell acid phosphatase gene locus to the short arm of chromosome 2. Journal Articles
Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader–Willi syndrome: A new case and review of the literature Journal Articles
CD34‐positive acute promyelocytic leukemia is associated with leukocytosis, microgranular/hypogranular morphology, expression of CD2 and bcr3 isoform Journal Articles
CHORIONIC VILLUS SAMPLING Journal Articles
Chromosomal Rearrangements between Serotype A and D Strains in Cryptococcus neoformans Journal Articles
Chromosome investigations & clinical outcome in patients with myelodysplastic syndromes. Journal Articles
Chromosome-specific alpha satellite DNA from human chromosome 1: Hierarchical structure and genomic organization of a polymorphic domain spanning several hundred kilobase pairs of centromeric DNA Journal Articles
Cytogenetic Abnormalities in Childhood Acute Lymphoblastic Leukemia Journal Articles
Cytogenetic comparison of saola <i>(Pseudoryx nghetinhensis)</i> and cattle <i>(Bos taurus)</i> using G- and Q-banding and FISH Journal Articles
Cytogenetic studies: an essential part of the paediatric necropsy. Journal Articles
DEVELOPMENT OF A CONTINUOUS CELL LINE, PBLE, FROM AN AMERICAN EEL PERIPHERAL BLOOD LEUKOCYTE PREPARATION Journal Articles
De novo 1q32q44 duplication and distal 1q trisomy syndrome Journal Articles
De novo mutation of the DHCR7 gene in a fetus with severe Smith–Lemli–Opitz (or RSH) syndrome Journal Articles
Development and Characterization of a Genetic Linkage Map of Cryptococcus neoformans var. neoformans Using Amplified Fragment Length Polymorphisms and Other Markers Journal Articles
Differences Between the Pattern of Developmental Abnormalities in Autism Associated With Duplications 15q11.2-q13 and Idiopathic Autism Journal Articles
Down’s Syndrome Associated with a Familial (21q—;22q+) Translocation Journal Articles
Enhanced Natural Killer Sensitivity With Concomitant Clonal Selection for Cells Bearing Homogeneously Staining Regions in the Human Melanoma Cell Line MeWo Upon Induction of Differentiation With Theophylline<xref ref-type="fn" rid="FN2">2</xref> Journal Articles
Eosinophilic, Solid, and Cystic Renal Cell Carcinoma Journal Articles
Evidence for unequal crossing-over as the mechanism for amplification of some homogeneously staining regions Journal Articles
Extraskeletal Ewing's Sarcoma/Primitive Neuroectodermal Tumor of the Posterior Mediastinum with t(11;22)(q24;q12) Journal Articles
Familial Evans Syndrome Journal Articles
Fanconi's anemia: a clinico-hematological and cytogenetic study. Journal Articles
Fast chromosome karyotyping by auction algorithm Journal Articles
G-, R- and C-Band Patterns of Goral (Nemorhaedus caudatus) and Comparison to Goat (Capra hircus) Journal Articles
Human Embryonic Stem Cells: Lessons from Stem Cell Niches in vivo Journal Articles
Human embryonic stem cells maintained in the absence of mouse embryonic fibroblasts or conditioned media are capable of hematopoietic development Journal Articles
Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl Journal Articles
Identification of a cancer stem cell in human brain tumors. Journal Articles
Impact of Growth Hormone Supplementation on Adult Height in Turner Syndrome: Results of the Canadian Randomized Controlled Trial Journal Articles
Implication of Abnormal Human Trophoblast Karyotype for the Evidence‐Based Approach to the Understanding, Investigation, and Treatment of Recurrent Spontaneous Abortion Journal Articles
Induction of genomic instability in SV40 transformed human cells: sufficiency of the N-terminal 147 amino acids of large T antigen and role of pRB and p53. Journal Articles
Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele Journal Articles
Isodicentric Yq mosaicism presenting as infertility and maturation arrest without altered SRY and AZF regions Journal Articles
Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation Journal Articles
Joint Classification and Pairing of Human Chromosomes Journal Articles
Linkage analysis of multiple endocrine neoplasia type 2A (MEN-2A) and three DNA markers on chromosome 20: Evidence against synteny Journal Articles
Localization by FISH of the 31 Texas nomenclature type I markers to both Q- and R-banded bovine chromosomes Journal Articles
Long-term outcome of a pediatric-inspired regimen used for adults aged 18–50 years with newly diagnosed acute lymphoblastic leukemia Journal Articles
MDS with del(5q) and associated cKIT D816V positive mastocytosis Journal Articles
Maternal Uniparental Isodisomy of Human Chromosome 14 Associated with a Paternal t(13q14q) and Precocious Puberty Journal Articles
Molecular Detection of the ETV6-NTRK3 Gene Fusion Differentiates Congenital Fibrosarcoma From Other Childhood Spindle Cell Tumors Journal Articles
Molecular breakpoint mapping of 6q11‐q14 interstitial deletions in seven patients Journal Articles
Morphology of acute promyelocytic leukemia with cytogenetic or molecular evidence for the diagnosis: Characterization of additional microgranular variants Journal Articles
Nonrandom chromosomal abnormalities in bovine lymphoma Journal Articles
Partial monosomy 1q43 and partial trisomy 20q13.2: a case report Journal Articles
Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene Journal Articles
Prenatal Diagnosis of Genetic Disorders: Trials and Tribulations Journal Articles
Prenatal decision-making in the second and third trimester in trisomy 21-affected pregnancies Journal Articles
Prenatal diagnosis by FISH of a 22q11 deletion in two families. Journal Articles
RETIRED: Fetal and Perinatal Autopsy in Prenatally Diagnosed Fetal Abnormalities With Normal Karyotype Journal Articles
Rearrangements of chromosomal regions containing ribosomal RNA genes and centromeric heterochromatin in the human melanoma cell line MeWo Journal Articles
Relevance to prenatal diagnosis of the identification of a human Y/autosome translocation by Y‐chromosome‐specific in situ hybridisation Journal Articles
Role of the Cyclin-Dependent Kinase Inhibitor CDKN2A in Familial Melanoma Journal Articles
Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2 Journal Articles
Spontaneous Sexual Development in a Chromatin Negative Female with XO Blood Leukocyte Karyotype Journal Articles
Structural Variation of Chromosomes in Autism Spectrum Disorder Journal Articles
Symmetrical upper limb peromelia and lower limb phocomelia associated with a de novo apparently balanced reciprocal translocation: 46,XX,t(2;12)(p25.1;q24.1) Journal Articles
Telomere shortening associated with chromosome instability is arrested in immortal cells which express telomerase activity. Journal Articles
The Roberts syndrome/SC phocomelia spectrum—A case report of an adult with review of the literature Journal Articles
The detection of mosaicism by prenatal BoBs™. Journal Articles
The multiple sex chromosomes of platypus and echidna are not completely identical and several share homology with the avian Z Journal Articles
The shortest telomeres drive karyotype evolution in transformed cells Journal Articles
Tracking mtDNA Heteroplasmy through Multiple Generations in the North Atlantic Right Whale (Eubalaena glacialis) Journal Articles
Translocation (14;19) in acute biphenotypic leukemia Journal Articles
Trends in prenatal diagnosis of Down syndrome and other autosomal trisomies in Scotland 1990 to 1994, with associated cytogenetic and epidemiological findings Journal Articles
Trisomy 18 as the first chromosome abnormality in a medullary breast cancer Journal Articles
Trisomy 8 and 18 as frequent clonal and single-cell aberrations in 185 primary breast carcinomas Journal Articles
Tumorigenicity of ten karyotypically distinct cell types present in the human melanoma cell line MeWo-A Journal Articles
Two b-c translocations specifically identified by 'banding' techniques as 46, XY,t(5p+6q-) and 46,XX,t(4q-7p+). Journal Articles
Unbalanced translocation of chromosome 3p in Wilms' tumor Journal Articles
Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation Journal Articles
Wolf-Hirschorn syndrome resulting from partial monosomy 4p/trisomy 9p Journal Articles