Karyotyping Concept

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45,X/46,XX mosaicism in discordant monozygotic twins. Academic Article
A Girl with Pervasive Developmental Disorder and Complex Chromosome Rearrangement Involving 8p and 10p Academic Article
A Male Phenotype With Aicardi Syndrome Academic Article
A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: A clinical and genetic study Academic Article
A patient-derived cellular model for Huntington’s disease reveals phenotypes at clinically relevant CAG lengths Academic Article
A prenatally recognizable malformation syndrome associated with a recurrent post-zygotic chromosome rearrangement der(Y)t(Y;1)(q12:q21) Academic Article
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 Academic Article
Absent nasal bone at 11-14 weeks of gestation and chromosomal defects Academic Article
Acute Lymphoblastic Leukemia in a Patient With Constitutional Chromosome 1pter-p36.31 Duplication and 1q43-qter Deletion Academic Article
Amplified KpnL repetitive DNA sequences in homogeneously staining regions of a human melanoma cell line. Academic Article
Amplified sequences from chromosome 15, including centromeres, nucleolar organizer regions, and centromeric heterochromatin, in homogeneously staining regions in the human melanoma cell line MeWo Academic Article
An inherited pericentric chromosomal inversion (46, inv3 [p-q+]) associated with skeletal anomalies Academic Article
An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster Academic Article
Aniridia--Wilms' tumour association--a case with 11p 13-14.1 deletion and ventricular septal defect. Academic Article
Assessment of the early risks of chorionic villus sampling. Academic Article
Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader-Willi syndrome: A new case and review of the literature Academic Article
CD34-positive acute promyelocytic leukemia is associated with leukocytosis, microgranular/hypogranular morphology, expression of CD2 and bcr3 isoform Academic Article
CHORIONIC VILLUS SAMPLING Academic Article
Chromosomal Rearrangements between Serotype A and D Strains in Cryptococcus neoformans Academic Article
Chromosome investigations & clinical outcome in patients with myelodysplastic syndromes. Academic Article
Chromosome studies at the paediatric necropsy Academic Article
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 Academic Article
Common and individually specific chromosomal characteristics of cultured human melanoma. Academic Article
Cytogenetic comparison of saola (Pseudoryx nghetinhensis) and cattle (Bos taurus) using G- and Q-banding and FISH Academic Article
Cytogenetic studies: an essential part of the paediatric necropsy. Academic Article
De novo 1q32q44 duplication and distal 1q trisomy syndrome Academic Article
De novo mutation of theDHCR7 gene in a fetus with severe Smith–Lemli–Opitz (or RSH) syndrome Academic Article
Deletion 3q in Two Patients With Blepharophimosis-ptosis-epicanthus Inversus Syndrome (BPES) Academic Article
Development and Characterization of a Genetic Linkage Map of Cryptococcus neoformans var. neoformans Using Amplified Fragment Length Polymorphisms and Other Markers Academic Article
Differences Between the Pattern of Developmental Abnormalities in Autism Associated With Duplications 15q11.2-q13 and Idiopathic Autism Academic Article
Down’s Syndrome Associated with a Familial (21q—;22q+) Translocation Academic Article
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 Theophylline2 Academic Article
Eosinophilic, Solid, and Cystic Renal Cell Carcinoma Academic Article
Etiologic Yield of Autistic Spectrum Disorders: A Prospective Study Academic Article
Evidence for unequal crossing-over as the mechanism for amplification of some homogeneously staining regions Academic Article
Extra Chromosome 7 in Cells Cultured From Cervical Carcinoma2 Academic Article
Extraskeletal Ewing's Sarcoma/Primitive Neuroectodermal Tumor of the Posterior Mediastinum with t(11;22)(q24;q12) Academic Article
Familial Evans Syndrome Academic Article
Fanconi's anemia: a clinico-hematological and cytogenetic study. Academic Article
Fast chromosome karyotyping by auction algorithm Academic Article
Human embryonic stem cells maintained in the absence of mouse embryonic fibroblasts or conditioned media are capable of hematopoietic development Academic Article
Human embryonic stem cells: lessons from stem cell niches in vivo Academic Article
Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl Academic Article
Identification of a cancer stem cell in human brain tumors. Academic Article
Impact of Growth Hormone Supplementation on Adult Height in Turner Syndrome: Results of the Canadian Randomized Controlled Trial Academic Article
Implication of Abnormal Human Trophoblast Karyotype for the Evidence-Based Approach to the Understanding, Investigation, and Treatment of Recurrent Spontaneous Abortion Academic Article
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. Academic Article
Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele Academic Article
Isodicentric Yq mosaicism presenting as infertility and maturation arrest without altered SRY and AZF regions Academic Article
Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation Academic Article
Joint Classification and Pairing of Human Chromosomes Academic Article
Linkage analysis of multiple endocrine neoplasia type 2A (MEN-2A) and three DNA markers on chromosome 20: Evidence against synteny Academic Article
Localization by FISH of the 31 Texas nomenclature type I markers to both Q- and R-banded bovine chromosomes Academic Article
Long-term outcome of a pediatric-inspired regimen used for adults aged 18–50 years with newly diagnosed acute lymphoblastic leukemia Academic Article
MDS with del(5q) and associated cKIT D816V positive mastocytosis Academic Article
Maternal Uniparental Isodisomy of Human Chromosome 14 Associated with a Paternal t(13q14q) and Precocious Puberty Academic Article
Mitoxantrone and 5-azacytidine for refractory/relapsed ANLL or CML in blast crisis: A leukemia intergroup study Academic Article
Molecular Detection of the ETV6-NTRK3 Gene Fusion Differentiates Congenital Fibrosarcoma From Other Childhood Spindle Cell Tumors Academic Article
Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients Academic Article
Morphology of acute promyelocytic leukemia with cytogenetic or molecular evidence for the diagnosis: Characterization of additional microgranular variants Academic Article
Nonrandom chromosomal abnormalities in bovine lymphoma Academic Article
Partial and complete trisomy 9: Delineation of a trisomy 9 syndrome Academic Article
Partial monosomy 1q43 and partial trisomy 20q13.2: a case report Academic Article
Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene Academic Article
Prenatal Diagnosis of Genetic Disorders: Trials and Tribulations Academic Article
Prenatal diagnosis by FISH of a 22q11 deletion in two families. Academic Article
Rearrangements of chromosomal regions containing ribosomal RNA genes and centromeric heterochromatin in the human melanoma cell line MeWo Academic Article
Role of the Cyclin-Dependent Kinase Inhibitor CDKN2A in Familial Melanoma Academic Article
Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involvesFOXP2 Academic Article
Spontaneous sexual development in a chromatin negative female with XO blood leukocyte karyotype. Academic Article
Structural Variation of Chromosomes in Autism Spectrum Disorder Academic Article
Telomere shortening associated with chromosome instability is arrested in immortal cells which express telomerase activity. Academic Article
The Roberts syndrome/SC phocomelia spectrum-A case report of an adult with review of the literature Academic Article
The multiple sex chromosomes of platypus and echidna are not completely identical and several share homology with the avian Z Academic Article
The shortest telomeres drive karyotype evolution in transformed cells Academic Article
Tracking mtDNA Heteroplasmy through Multiple Generations in the North Atlantic Right Whale (Eubalaena glacialis) Academic Article
Trisomy 18 as the first chromosome abnormality in a medullary breast cancer Academic Article
Trisomy 8 and 18 as frequent clonal and single-cell aberrations in 185 primary breast carcinomas Academic Article
Tumorigenicity of ten karyotypically distinct cell types present in the human melanoma cell line MeWo-A Academic Article
Two b-c translocations specifically identified by 'banding' techniques as 46, XY,t(5p+6q-) and 46,XX,t(4q-7p+). Academic Article
Unbalanced translocation of chromosome 3p in Wilms' tumor Academic Article
Variability of the de Lange syndrome: Report of 3 cases and genetic analysis of 54 families Academic Article
Whole exome sequencing reveals concomitant mutations of multiple FA genes in individual Fanconi anemia patients Academic Article
Wolf-Hirschorn syndrome resulting from partial monosomy 4p/trisomy 9p Academic Article