Chromosome Deletion Concept

subject area of

• 15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients  Journal Articles
• 242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread  Journal Articles
• A RARE CASE OF INTERSTITIAL del(1)(p34.3p36.11) DIAGNOSED PRENATALLY  Journal Articles
• A complete deletion of the factor IX gene and new TaqI variant in a hemophilia B kindred  Journal Articles
• A new highly penetrant form of obesity due to deletions on chromosome 16p11.2  Journal Articles
• A novel monoclonal antibody based diagnostic test for alpha-thalassemia- 1 carriers due to the (-SEA/) deletion  Journal Articles
• A plasmid vehicle suitable for the molecular cloning and characterization of mammalian promoters  Journal Articles
• A rapid and simple electrophoretic method for the detection of mutations involving small insertion or deletion: application to ?-thalassemia  Journal Articles
• Acute Lymphoblastic Leukemia in a Patient With Constitutional Chromosome 1pter-p36.31 Duplication and 1q43-qter Deletion  Journal Articles
• Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2  Journal Articles
• An uncommon 3.4-Mb interstitial deletion at 3q29  Journal Articles
• Analysis of a 1600-kilobase Rhizobium meliloti megaplasmid using defined deletions generated in vivo.  Journal Articles
• Aniridia--Wilms' tumour association--a case with 11p 13-14.1 deletion and ventricular septal defect.  Journal Articles
• Anti-adenovirus type 5 cytotoxic T lymphocytes: immunodominant epitopes are encoded by the E1A gene  Journal Articles
• Association of genomic subtypes of lower-grade gliomas with shape features automatically extracted by a deep learning algorithm  Journal Articles
• Blepharophimosis-ptosis-epicanthus inversus syndrome plus  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
• Characterization of Three Overlapping Deletions Causing X-Linked Lymphoproliferative Disease  Journal Articles
• Characterization of an adenovirus type 5 mutant carrying embedded inverted terminal repeats  Journal Articles
• Clinical and molecular delineation of the 17q21.31 microdeletion syndrome  Journal Articles
• Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12  Journal Articles
• Core binding factor beta (CBFB) haploinsufficiency due to an interstitial deletion at 16q21q22 resulting in delayed cranial ossification, cleft palate, congenital heart anomalies, and feeding difficulties but favorable outcome  Journal Articles
• De novo deletion 12q: Report of a patient with 12q24.31q24.33 deletion  Journal Articles
• Deletion 4q21/4q22 syndrome: Two patients with de novo 4q21.3q23 and 4q13.2q23 deletions  Journal Articles
• Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly  Journal Articles
• Determination of the origin-specific DNA-binding domain of polyomavirus large T antigen  Journal Articles
• DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review.  Journal Articles
• Effect of wzx ( rfbX ) Mutations on A-Band and B-Band Lipopolysaccharide Biosynthesis in Pseudomonas aeruginosa O5  Journal Articles
• Embryonic ζ-Globin Chains in Adults: a Marker for α-Thalassemia-1 Haplotype Due to a >17.5-kb Deletion  Journal Articles
• Excess of deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature  Journal Articles
• Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion  Journal Articles
• Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants  Journal Articles
• Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462  Journal Articles
• Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients  Journal Articles
• Genetic and physical analyses of group E exo- mutants of Rhizobium meliloti  Journal Articles
• HLA-DRnegative, CD34negative Hypergranular Acute Myeloid Leukemia With Trisomy 6 and del(5)(q22q33)  Journal Articles
• Hb S/β°‐Thalassemia due to the ˜1.4‐kb deletion is associated with a relatively mild phenotype  Journal Articles
• Hemoglobin Bart's Disease in an Italian Boy  Journal Articles
• Hemoglobin barts hydrops fetalis syndrome.  Journal Articles
• High hemoglobin A2 beta 0-thalassemia due to a 532-basepair deletion of the 5' beta-globin gene region.  Journal Articles
• Human embryonic zeta-globin chain expression in deletional alpha- thalassemias  Journal Articles
• Identification of a peroxisome proliferator-responsive element upstream of the gene encoding rat peroxisomal enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase.  Journal Articles
• Identification of an extensive ζ‐α globin gene deletion in a Chinese individual  Journal Articles
• Identification of an immunodominant cytotoxic T-lymphocyte recognition site in glycoprotein B of herpes simplex virus by using recombinant adenovirus vectors and synthetic peptides  Journal Articles
• Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis  Journal Articles
• Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome  Journal Articles
• Is Isolated Palatal Anomaly an Indication to Screen for 22q11 Region Deletion?  Journal Articles
• Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome  Journal Articles
• Location of sequences in polyomavirus DNA that are required for early gene expression in vivo and in vitro.  Journal Articles
• MDS with del(5q) and associated cKIT D816V positive mastocytosis  Journal Articles
• Meiotic analysis of a pericentric inversion, inv(7) (p22q32), in the father of a child with a duplication-deletion of chromosome 7  Journal Articles
• Modulation of the Phenotypic Expression of a Human Serine tRNA Gene by 5′-Flanking Sequences  Journal Articles
• Molecular analysis of a deletion polymorphism in alpha satellite of human chromosome 17: evidence for homologous unequal crossing-over and subsequent fixation  Journal Articles
• Molecular determination of the breakpoints of a 161 556 bp deletion at chromosome 13q34 that presented as severe factor VII deficiency in a neonate  Journal Articles
• Multiple subelements within the polyomavirus enhancer function synergistically to activate DNA replication.  Journal Articles
• Mutational analysis of the herpes simplex virus trans-inducing factor Vmw65  Journal Articles
• Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome  Journal Articles
• OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome  Journal Articles
• Partial monosomy 1q43 and partial trisomy 20q13.2: a case report  Journal Articles
• Paternal deletion 6q24.3: A new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance  Journal Articles
• Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies  Journal Articles
• Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases.  Journal Articles
• Positional effect of cis/trans alpha globin gene deletions on the formation of “H” bodies  Journal Articles
• Prenatal diagnosis by FISH of a 22q11 deletion in two families.  Journal Articles
• Pulmonary Atresia with Intact Ventricular Septum and Major Aortopulmonary Collaterals: Association with Deletion 22q11.2  Journal Articles
• Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder  Journal Articles
• Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity  Journal Articles
• Renal cell carcinoma with mixed features of papillary and clear cell cytomorphology: a fluorescent in situ hybridization study  Journal Articles
• Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction  Journal Articles
• SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females  Journal Articles
• Savant Characteristics in a Child with Developmental Delay and Deletion in the Short Arm of Chromosome 20  Journal Articles
• Sequence evolution within populations under multiple types of mutation.  Journal Articles
• Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2  Journal Articles
• Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p  Journal Articles
• The amino terminus of polyomavirus middle T antigen is required for transformation  Journal Articles
• The effect of alpha-hemoglobin gene deletions on the red blood cells' mean cell volume and hemoglobin levels.  Journal Articles
• The polyomavirus enhancer comprises multiple functional elements  Journal Articles
• The spectrum of epilepsy in children with 15q13.3 microdeletion syndrome  Journal Articles
• Unusual dicentric chromosome 22 associated with a 22q13 deletion  Journal Articles
• Wolf-Hirschorn syndrome resulting from partial monosomy 4p/trisomy 9p  Journal Articles
• [Search for 22q11 deletion and linkage study in familial cases of non-syndromic conotruncal defects].  Journal Articles