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STANKIEWICZ, PAWEL
One or more keywords matched the following items that are connected to STANKIEWICZ, PAWEL
Item TypeName
Academic Article Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
Academic Article Genome architecture, rearrangements and genomic disorders.
Academic Article Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.
Academic Article Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome.
Academic Article Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.
Academic Article Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype.
Academic Article Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome.
Academic Article Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.
Academic Article Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.
Academic Article The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP.
Academic Article Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features.
Academic Article Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation.
Academic Article The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats.
Academic Article AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.
Academic Article Genome architecture catalyzes nonrecurrent chromosomal rearrangements.
Academic Article A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH.
Academic Article Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome.
Academic Article Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Academic Article Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.
Academic Article A girl with duplication 17p10-p12 associated with a dicentric chromosome.
Academic Article Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.
Academic Article Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation.
Academic Article Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
Academic Article 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.
Academic Article Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
Academic Article Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia.
Academic Article Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications.
Academic Article Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation.
Academic Article Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype.
Academic Article Phenotypic manifestations of copy number variation in chromosome 16p13.11.
Academic Article A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation.
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 Development and validation of a CGH microarray for clinical cytogenetic diagnosis.
Academic Article Interphase FISH screening for the LCR-mediated common rearrangement of isochromosome 17q in primary myelofibrosis.
Academic Article Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.
Academic Article Isolation and characterization of mouse-human microcell hybrid cell clones permissive for infectious HIV particle release.
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 Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.
Academic Article Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients.
Academic Article Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation.
Academic Article Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.
Academic Article Population bottlenecks as a potential major shaping force of human genome architecture.
Academic Article Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
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 Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.
Academic Article Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
Academic Article A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.
Academic Article Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.
Academic Article Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.
Academic Article Detection of clinically relevant exonic copy-number changes by array CGH.
Academic Article Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia.
Academic Article HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome.
Academic Article Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
Academic Article 16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn.
Academic Article Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2.
Academic Article Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.
Academic Article Microdeletion and microduplication syndromes.
Academic Article Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.
Academic Article Detection of =1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.
Academic Article The phenotype of recurrent 10q22q23 deletions and duplications.
Academic Article Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
Academic Article Early recurrence in standard-risk medulloblastoma patients with the common idic(17)(p11.2) rearrangement.
Academic Article Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
Academic Article Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
Academic Article Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.
Academic Article Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
Academic Article Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.
Academic Article Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.
Academic Article The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3.
Academic Article Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].
Academic Article Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.
Academic Article Serial segmental duplications during primate evolution result in complex human genome architecture.
Academic Article Congenital diaphragmatic hernia in WAGR syndrome.
Academic Article DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
Academic Article Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
Academic Article Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.
Academic Article [Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities].
Academic Article Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization.
Academic Article Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.
Academic Article De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia.
Academic Article Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.
Academic Article Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement.
Academic Article Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).
Academic Article Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.
Academic Article Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.
Academic Article Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
Academic Article Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
Academic Article A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.
Academic Article Challenges in clinical interpretation of microduplications detected by array CGH analysis.
Academic Article Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development.
Academic Article Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.
Academic Article Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
Academic Article Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay.
Academic Article Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.
Academic Article Incidental copy-number variants identified by routine genome testing in a clinical population.
Academic Article Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
Academic Article Inverted low-copy repeats and genome instability--a genome-wide analysis.
Academic Article A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human.
Academic Article Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.
Academic Article Functional performance of aCGH design for clinical cytogenetics.
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 20
Concept Chromosomes, Human, Pair 4
Concept Chromosomes, Human, Pair 5
Concept Chromosomes, Human, Pair 21
Concept Chromosome Painting
Concept Sex Chromosome Disorders
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 Chromosomes, Human, Pair 9
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 Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.
Academic Article Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.
Academic Article Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins.
Academic Article CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.
Academic Article Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.
Academic Article Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter.
Academic Article SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay.
Academic Article Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.
Academic Article Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics.
Academic Article Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination.
Academic Article Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.
Academic Article 6q22.1 microdeletion and susceptibility to pediatric epilepsy.
Academic Article Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite.
Academic Article Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination.
Academic Article Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B.
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 The complex behavioral phenotype of 15q13.3 microdeletion syndrome.
Academic Article Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
Academic Article Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.
Academic Article Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing.
Academic Article One pedigree we all may have come from - did Adam and Eve have the chromosome 2 fusion?
Academic Article Mechanisms for Complex Chromosomal Insertions.
Academic Article Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV.
Academic Article An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Academic Article Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development.
Academic Article An estimation of the prevalence of genomic disorders using chromosomal microarray data.
Academic Article LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV.
Academic Article Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Academic Article Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation.
Grant Epigenomic dysfunction at 16q24.1 vascular defects and perinatal consequences
Academic Article Novel parent-of-origin-specific differentially methylated loci on chromosome 16.
Academic Article Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
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.
Academic Article Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development.
Academic Article A de novo 2.2?Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report.
Academic Article Deciphering the complexity of simple chromosomal insertions by genome sequencing.
Academic Article Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Academic Article Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies?
Academic Article Revised time estimation of the ancestral human chromosome 2 fusion.
Academic Article PhaseDancer: a novel targeted assembler of segmental duplications unravels the complexity of the human chromosome 2 fusion going from 48 to 46 chromosomes in hominin evolution.
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