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