• 46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study
• 8p21.3 deletion suggesting a probable role of TRAIL-R1 and TRAIL-R2 as candidate tumor suppressor genes in the pathogenesis of multiple myeloma
• 8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revision
• 8p23.1 Interstitial Deletion in a Patient with Congenital Cardiopathy, Neurobehavioral Disorders, and Minor Signs Suggesting 22q11.2 Deletion Syndrome
• 8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature
• 8p23.2p22 deletion: a case report of a large deletion encompassing 8p23.1 with additional clinical features
• A Case Report of Respiratory Syncytial Virus-Infected 8p Inverted Duplication Deletion Syndrome with Low Natural Killer Cell Activity
• A CGH array study in nonsyndromic (primary) autism patients: deletions on 16p13.11, 16p11.2, 1q21.1, 2q21.1q21.2, and 8p23.1
• A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome
• A potential relationship among beta-defensins haplotype, SOX7 duplication and cardiac defects
• Allelic imbalances and homozygous deletion on 8p23.2 for stepwise progression of hepatocarcinogenesis
• Analysis of genomic copy number variations in two unrelated neonates with 8p deletion and duplication associated with congenital heart disease
• Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization
• Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia
• Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization
• Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: further delineation of partial trisomy 1q syndrome
• Coexistence of Fragile-X Syndrome, 8p23.1 Deletion, and Balanced Translocation t(7;10)(p10;q24) in a Single Family
• Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks
• Congenital right atrial diverticulum, atrial septal defect within the oval fossa, and complex pulmonary valvar obstruction in an infant with chromosome 8(p23.1) deletion
• Cytogenetic and molecular genetic study of a case with 8p inverted duplication deletion syndrome
• D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p)
• De novo 8p23.1 deletion in a patient with absence epilepsy
• De novo case of a partial trisomy 4p and a partial monosomy 8p
• Deletion mapping in colorectal cancer of a putative tumour suppressor gene in 8p22-p21.3
• Deletion mapping of chromosome 8p in prostate cancer by fluorescence in situ hybridization
• Deletion mapping reveals two regions of chromosome 8 allele loss in colorectal carcinomas
• Deletion of 8p: a report of a child with normal intelligence
• Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome
• Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects
• Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1
• Distal 8p deletion (8)(p23.1): an easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation
• Distal 8p deletion (8p23.1----8pter): a common deletion?
• Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1
• Familial complex chromosome rearrangement giving rise to balanced and unbalanced recombination products
• GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease
• Genetic analysis of a family with congenital heart defects caused by chromosome 8p23.1 deletion
• Genomic lesions associated with a different clinical outcome in diffuse large B-Cell lymphoma treated with R-CHOP-21
• Genomic profile of copy number variants on the short arm of human chromosome 8
• Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature
• High-resolution array CGH clarifies events occurring on 8p in carcinogenesis
• Identification of minimal regions of deletion at 8p23.1-22 associated with metastasis of hepatocellular carcinoma
• Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities
• Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance
• Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region
• Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture
• Inverted duplication deletion of 8P: characterization by standard cytogenetic and SNP array analyses
• Inverted tandem duplication generates a duplication deficiency of chromosome 8p
• Is interstitial 8p23 microdeletion responsible of 46,XY gonadal dysgenesis? One case report from birth to puberty
• Isolated chromosome 8p23.2‑pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders
• Loss of 6q or 8p23 is associated with the total number of DNA copy number aberrations in adenoid cystic carcinoma
• Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis
• Microarray analysis of unbalanced translocation in Wolf-Hirschhorn syndrome
• Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia
• Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation
• Molecular cytogenetic analysis of de novo partial monosomy 4p (4p16.2-->pter) and partial trisomy 8p (8p23.2-->pter)
• Molecular cytogenetic characterization of inv dup del(8p) in a fetus associated with ventriculomegaly, hypoplastic left heart, polyhydramnios and intestinal obstruction
• Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1
• Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion
• Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter----8p23.1:)
• Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1) rearrangement
• Partial monosomy 13q (13q21.32--->qter) and partial trisomy 8p (8p1--->pter) presenting with anencephaly and increased nuchal translucency: array comparative genomic hybridization characterization
• Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization
• Partial trisomy 1q (1q32-->1qter) in adulthood: further delineation of the phenotype
• Partial trisomy and monosomy 8p due to inversion duplication
• Partial trisomy of distal 8q derived from mother with mosaic 8q23.3----24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I
• Paternally originated Wolf-Hirschhorn syndrome detected by multiplex ligation-dependent probe amplification and microarray comparative genomic hybridization
• Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity
• Pre- and Postnatal Diagnosis of 5q35.1 and 8p23.1 Deletion in Congenital Heart Disease
• Prenatal diagnosis for a women with a suspected birth history of Angelman syndrome
• Prenatal diagnosis of chromosome 8p23.1 microdeletion by array comparative genomic hybridization using uncultured amniocytes in a pregnancy associated with fetal partial corpus callosum agenesis and schizencephaly
• Prenatal diagnosis of de novo deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects
• Prenatal diagnosis of Fryns syndrome associated with a microdeletion at 8p23.1
• Prenatal diagnosis of mosaic trisomy 8 by amniocentesis in a fetus with ventriculomegaly and dysgenesis of the corpus callosum
• Prenatal diagnosis of partial monosomy 8p (8p23.2→pter) and partial trisomy 15q (15q21.2→qter) and incidental detection of a familial chromosome translocation of paternal origin in a pregnancy associated with increased nuchal translucency and an abnormal
• Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects
• Structural abnormalities of chromosome 8 and fetoplacental discrepancy: A second case report and review of fetal phenotype of 8p inverted duplication deletion syndrome
• Subvalvular aortic stenosis associated with 8p23 deletion
• Telomere capture as a frequent mechanism for stabilization of the terminal chromosomal deletion associated with inverted duplication
• Terminal deletion in chromosome region 8p23.1-8pter in a child with features of velo-cardio-facial syndrome
• The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis
• Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype
• Trisomy 3q25.1-qter and monosomy 8p23.1-pter in a patient: cytogenetic and molecular analysis with delineation of the phenotype
• Two patients with atypical interstitial deletions of 8p23.1: mapping of phenotypical traits
• Unusual 8p inverted duplication deletion with telomere capture from 8q