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  Academic Article
• 242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread  Academic Article
• A RARE CASE OF INTERSTITIAL del(1)(p34.3p36.11) DIAGNOSED PRENATALLY  Academic Article
• A complete deletion of the factor IX gene and new TaqI variant in a hemophilia B kindred  Academic Article
• A fertile man with tdic(Y;22): How a stable neo-X1X2Y sex-determining mechanism could evolve in man  Academic Article
• A new highly penetrant form of obesity due to deletions on chromosome 16p11.2  Academic Article
• A novel monoclonal antibody based diagnostic test for alpha-thalassemia- 1 carriers due to the (-SEA/) deletion  Academic Article
• A plasmid vehicle suitable for the molecular cloning and characterization of mammalian promoters  Academic Article
• A rapid and simple electrophoretic method for the detection of mutations involving small insertion or deletion: application to ?-thalassemia  Academic Article
• A rare subtelomeric deletion syndrome: Wolf Hirschhorn syndrome.  Academic Article
• A stepped wedge design for testing an effect of intranasal insulin on cognitive development of children with Phelan-McDermid syndrome: A comparison of different designs  Academic Article
• Acute Lymphoblastic Leukemia in a Patient With Constitutional Chromosome 1pter-p36.31 Duplication and 1q43-qter Deletion  Academic Article
• Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2  Academic Article
• An uncommon 3.4-Mb interstitial deletion at 3q29  Academic Article
• Analysis of a 1600-kilobase Rhizobium meliloti megaplasmid using defined deletions generated in vivo.  Academic Article
• Aniridia--Wilms' tumour association--a case with 11p 13-14.1 deletion and ventricular septal defect.  Academic Article
• Anti-adenovirus type 5 cytotoxic T lymphocytes: immunodominant epitopes are encoded by the E1A gene  Academic Article
• Association of genomic subtypes of lower-grade gliomas with shape features automatically extracted by a deep learning algorithm  Academic Article
• Blepharophimosis-ptosis-epicanthus inversus syndrome plus  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
• Characterization of Three Overlapping Deletions Causing X-Linked Lymphoproliferative Disease  Academic Article
• Characterization of an adenovirus type 5 mutant carrying embedded inverted terminal repeats  Academic Article
• Clinical and molecular delineation of the 17q21.31 microdeletion syndrome  Academic Article
• Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12  Academic Article
• 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  Academic Article
• De novo deletion 12q: Report of a patient with 12q24.31q24.33 deletion  Academic Article
• Deletion 3q in Two Patients With Blepharophimosis-ptosis-epicanthus Inversus Syndrome (BPES)  Academic Article
• Deletion 4q21/4q22 syndrome: Two patients with de novo 4q21.3q23 and 4q13.2q23 deletions  Academic Article
• Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly  Academic Article
• Determination of the origin-specific DNA-binding domain of polyomavirus large T antigen  Academic Article
• DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review.  Academic Article
• Effect of wzx ( rfbX ) Mutations on A-Band and B-Band Lipopolysaccharide Biosynthesis in Pseudomonas aeruginosa O5  Academic Article
• Embryonic ζ-Globin Chains in Adults: a Marker for α-Thalassemia-1 Haplotype Due to a >17.5-kb Deletion  Academic Article
• Excess of deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature  Academic Article
• Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion  Academic Article
• Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants  Academic Article
• Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462  Academic Article
• Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients  Academic Article
• Genetic and physical analyses of group E exo- mutants of Rhizobium meliloti  Academic Article
• HLA-DRnegative, CD34negative Hypergranular Acute Myeloid Leukemia With Trisomy 6 and del(5)(q22q33)  Academic Article
• Hb S/β°-Thalassemia due to the ˜1.4-kb deletion is associated with a relatively mild phenotype  Academic Article
• Hemoglobin Bart's Disease in an Italian Boy  Academic Article
• Hemoglobin barts hydrops fetalis syndrome.  Academic Article
• High hemoglobin A2 beta 0-thalassemia due to a 532-basepair deletion of the 5' beta-globin gene region.  Academic Article
• Human embryonic zeta-globin chain expression in deletional alpha- thalassemias  Academic Article
• Identification of a peroxisome proliferator-responsive element upstream of the gene encoding rat peroxisomal enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase.  Academic Article
• Identification of an extensive ζ-α globin gene deletion in a Chinese individual  Academic Article
• Identification of an immunodominant cytotoxic T-lymphocyte recognition site in glycoprotein B of herpes simplex virus by using recombinant adenovirus vectors and synthetic peptides  Academic Article
• Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis  Academic Article
• Imaging Correlates of Molecular Signatures in Oligodendrogliomas  Academic Article
• Is Isolated Palatal Anomaly an Indication to Screen for 22q11 Region Deletion?  Academic Article
• Is there an effect of intranasal insulin on development and behaviour in Phelan-McDermid syndrome? A randomized, double-blind, placebo-controlled trial  Academic Article
• Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome  Academic Article
• Location of sequences in polyomavirus DNA that are required for early gene expression in vivo and in vitro.  Academic Article
• Long-Term Studies Assessing Outcomes of Ibrutinib Therapy in Patients With Del(11q) Chronic Lymphocytic Leukemia  Academic Article
• MDS with del(5q) and associated cKIT D816V positive mastocytosis  Academic Article
• Meiotic analysis of a pericentric inversion, inv(7) (p22q32), in the father of a child with a duplication-deletion of chromosome 7  Academic Article
• Modulation of the Phenotypic Expression of a Human Serine tRNA Gene by 5′-Flanking Sequences  Academic Article
• Molecular analysis of a deletion polymorphism in alpha satellite of human chromosome 17: evidence for homologous unequal crossing-over and subsequent fixation  Academic Article
• Molecular determination of the breakpoints of a 161 556 bp deletion at chromosome 13q34 that presented as severe factor VII deficiency in a neonate  Academic Article
• Multiple subelements within the polyomavirus enhancer function synergistically to activate DNA replication.  Academic Article
• Mutational analysis of the herpes simplex virus trans-inducing factor Vmw65  Academic Article
• Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome  Academic Article
• OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome  Academic Article
• Partial deletion of an antithrombin III allele in a kindred with a type 1 deficiency  Academic Article
• Partial monosomy 1q43 and partial trisomy 20q13.2: a case report  Academic Article
• Paternal deletion 6q24.3: A new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance  Academic Article
• Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies  Academic Article
• Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases.  Academic Article
• Positional effect of cis/trans alpha globin gene deletions on the formation of “H” bodies  Academic Article
• Prenatal diagnosis by FISH of a 22q11 deletion in two families.  Academic Article
• Pulmonary Atresia with Intact Ventricular Septum and Major Aortopulmonary Collaterals: Association with Deletion 22q11.2  Academic Article
• Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder  Academic Article
• Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity  Academic Article
• Renal cell carcinoma with mixed features of papillary and clear cell cytomorphology: a fluorescent in situ hybridization study  Academic Article
• Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction  Academic Article
• SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females  Academic Article
• Savant Characteristics in a Child with Developmental Delay and Deletion in the Short Arm of Chromosome 20  Academic Article
• Sequence evolution within populations under multiple types of mutation.  Academic Article
• Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involvesFOXP2  Academic Article
• Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p  Academic Article
• The amino terminus of polyomavirus middle T antigen is required for transformation  Academic Article
• The effect of alpha-hemoglobin gene deletions on the red blood cells' mean cell volume and hemoglobin levels.  Academic Article
• The polyomavirus enhancer comprises multiple functional elements  Academic Article
• The spectrum of epilepsy in children with 15q13.3 microdeletion syndrome  Academic Article
• Unusual dicentric chromosome 22 associated with a 22q13 deletion  Academic Article
• Wolf-Hirschorn syndrome resulting from partial monosomy 4p/trisomy 9p  Academic Article
• [Search for 22q11 deletion and linkage study in familial cases of non-syndromic conotruncal defects].  Academic Article