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BACINO, CARLOS
One or more keywords matched the following items that are connected to BACINO, CARLOS
Item TypeName
Academic Article Clinical and molecular studies in full trisomy 22: further delineation of the phenotype and review of the literature.
Academic Article Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review.
Academic Article Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heart.
Academic Article Caution: telomere crossing.
Academic Article Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter.
Academic Article Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes.
Academic Article Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory.
Academic Article A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation.
Academic Article ATR-16 due to a de novo complex rearrangement of chromosome 16.
Academic Article Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.
Academic Article Familial complex chromosomal rearrangement resulting in a recombinant chromosome.
Academic Article Linkage analysis of circulating levels of adiponectin in Hispanic children.
Academic Article Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review.
Academic Article Re: clinical report by Ahmad et al. 14q(22) deletion in a familial case of anophthalmia with polydactyly.
Academic Article Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions.
Academic Article Preimplantation genetic diagnosis for a known cryptic translocation: follow-up clinical report and implication of segregation products.
Academic Article Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Academic Article Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.
Academic Article Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.
Academic Article Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations.
Academic Article Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia.
Academic Article Alterations in white matter pathways in Angelman syndrome.
Academic Article Angelman syndrome: Mutations influence features in early childhood.
Academic Article Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Academic Article Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Academic Article Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?
Academic Article Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation.
Academic Article Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.
Academic Article A quantitative trait locus on chromosome 18q for physical activity and dietary intake in Hispanic children.
Academic Article Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.
Academic Article Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.
Academic Article Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.
Academic Article Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome.
Academic Article Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.
Academic Article Detection of clinically relevant exonic copy-number changes by array CGH.
Academic Article Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
Academic Article Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.
Academic Article Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q.
Academic Article Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.
Academic Article Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot.
Academic Article A child with an inherited 0.31?Mb microdeletion of chromosome 14q32.33: further delineation of a critical region for the 14q32 deletion syndrome.
Academic Article Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome.
Academic Article Male patient with non-mosaic deleted Y-chromosome and clinical features of Turner syndrome.
Academic Article Re: Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions: Bruyere H, Rajcan-Separovic E, Doyle J, Pantzar T, Langlois S.
Academic Article SNP genotyping to screen for a common deletion in CHARGE syndrome.
Academic Article Low-level mosaicism of trisomy 14: phenotypic and molecular characterization.
Academic Article Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.
Academic Article Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.
Academic Article Introductory comments on special section-genomic microduplications: When adding may equal subtracting.
Academic Article A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.
Academic Article Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.
Academic Article A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH).
Academic Article Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.
Academic Article De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome.
Academic Article Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
Academic Article Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability.
Concept Chromosomes, Human, Pair 18
Concept Chromosomes, Human, Pair 12
Concept Chromosomes, Human, Pair 15
Concept X Chromosome Inactivation
Concept Sex Chromosome Aberrations
Concept Y Chromosome
Concept Chromosomes, Human, Pair 16
Concept Chromosomes, Human, Pair 17
Concept Chromosome Banding
Concept Chromosome Breakage
Concept Chromosomes, Human, Pair 14
Concept Physical Chromosome Mapping
Concept Chromosomes, Human, Pair 11
Concept Chromosomes, Human, Pair 1
Concept Chromosomes, Human, Pair 19
Concept Chromosomes, Human, Pair 3
Concept Chromosomes, Human, Pair 4
Concept Chromosomes, Human, Pair 5
Concept Chromosomes, Human, Pair 8
Concept Chromosome Mapping
Concept Chromosome Aberrations
Concept Chromosome Deletion
Concept Chromosomes, Human, Pair 10
Concept Chromosome Inversion
Concept Chromosomes, Human, Pair 7
Concept Chromosomes, Human, Pair 6
Concept Chromosome Breakpoints
Concept Chromosomes, Human, Pair 2
Concept X Chromosome
Concept Chromosomes, Human, Pair 13
Concept Chromosome Disorders
Concept Chromosomes, Human, Pair 22
Academic Article NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.
Academic Article TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
Academic Article Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.
Academic Article Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.
Academic Article Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.
Academic Article Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.
Academic Article Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
Academic Article De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations.
Academic Article 5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C: A progressive disease.
Academic Article Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
Academic Article 4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions.
Academic Article Mechanisms for Complex Chromosomal Insertions.
Academic Article The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Academic Article Universal Prenatal Chromosomal Microarray Analysis: Additive Value and Clinical Dilemmas in Fetuses with a Normal Karyotype.
Academic Article An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Academic Article Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
Academic Article Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly.
Academic Article Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.
Concept Chromosome Duplication
Academic Article Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Search Criteria
  • Chromosomes Human Pair 8