| review article | Q7318358 |
| scholarly article | Q13442814 |
| P2093 | author name string | Marie-France Portnoï | |
| P433 | issue | 2-3 | |
| P304 | page(s) | 88-93 | |
| P577 | publication date | 2009-02-28 | |
| P1433 | published in | European Journal of Medical Genetics | Q15817083 |
| P1476 | title | Microduplication 22q11.2: a new chromosomal syndrome | |
| P478 | volume | 52 |
| Q37691480 | "Idiopathic" mental retardation and new chromosomal abnormalities |
| Q36477668 | 22q11 Gene dosage establishes an adaptive range for sonic hedgehog and retinoic acid signaling during early development. |
| Q38060408 | 22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature |
| Q48244247 | A 13-Year-Old Child with Lupus-Like Nephritis and 22q11 Microduplication Syndrome. |
| Q35584084 | A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease |
| Q35752792 | A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases. |
| Q58695627 | Acute pre-B lymphoblastic leukemia and congenital anomalies in a child with a de novo 22q11.1q11.22 duplication |
| Q40702022 | All-or-(N)One - an epistemological characterization of the human tumorigenic neuronal paralogous FAM72 gene loci |
| Q53564604 | An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis. |
| Q38021444 | An unusual case of Cat-Eye syndrome phenotype and extragonadal mature teratoma: review of the literature |
| Q50651597 | Array-CGH in children with mild intellectual disability: a population-based study. |
| Q36217805 | Association testing of copy number variants in schizophrenia and autism spectrum disorders |
| Q64231249 | Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance |
| Q39162331 | Autism genetics: opportunities and challenges for clinical translation |
| Q37932929 | Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects. |
| Q34559423 | Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients |
| Q91668430 | Chromosomal Microarray Analysis in Children with Unexplained Developmental Delay/Intellectual Disability |
| Q53095168 | Chromosome 22q11.2 duplication is rare in a population-based cohort of Danish children with cardiovascular malformations. |
| Q87144143 | Chromosome 22q11.21 microduplication in association with hypoplastic left heart syndrome with hypoplastic pulmonary arteries |
| Q57655070 | Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region |
| Q42119379 | Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome? |
| Q42150104 | Cognitive deficit, learning difficulties, severe behavioral abnormalities and healed cleft lip in a patient with a 1.2-mb distal microduplication at 22q11.2. |
| Q35115389 | Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome |
| Q31126889 | Conditional and constitutive expression of a Tbx1-GFP fusion protein in mice |
| Q36671242 | DGCR6 at the proximal part of the DiGeorge critical region is involved in conotruncal heart defects. |
| Q35983745 | De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. |
| Q52617345 | De novo 5q35.5 duplication with clinical presentation of Sotos syndrome. |
| Q38084601 | Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature. |
| Q42079149 | Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers |
| Q58833699 | Delineating a new critical region for juvenile myoclonic epilepsy at the 22q11.2 chromosome |
| Q43651528 | Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis |
| Q50420674 | Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome. |
| Q37414526 | Evidence that duplications of 22q11.2 protect against schizophrenia |
| Q59806540 | Exposure, entropion, and bilateral corneal ulceration in a newborn as a manifestation of chromosome 22 q11.2 duplication syndrome |
| Q41932414 | Falciform macular folds and chromosome 22q11.2: evidence in support of a locus for familial exudative vitreoretinopathy (FEVR). |
| Q91683182 | Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene |
| Q90669133 | Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association |
| Q58749774 | Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects |
| Q47224735 | Genetic basis of human congenital anomalies of the kidney and urinary tract |
| Q37315751 | Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes |
| Q33698277 | Human interphase chromosomes: a review of available molecular cytogenetic technologies. |
| Q36320338 | Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication |
| Q54353492 | Identification of copy number variants on human chromosome 22 in patients with a variety of clinical findings. |
| Q56231026 | Identification of copy number variations associated with congenital heart disease by chromosomal microarray analysis and next-generation sequencing |
| Q89265754 | Immunodeficiency in a Child with 22q11.2 Microduplication Syndrome |
| Q39378558 | Increased Tbx1 expression may play a role via TGFβ-Smad2/3 signaling pathway in acute kidney injury induced by gentamicin |
| Q34966044 | Karyotype versus microarray testing for genetic abnormalities after stillbirth |
| Q28533662 | MicroRNA-17-92, a direct Ap-2α transcriptional target, modulates T-box factor activity in orofacial clefting |
| Q50856798 | Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization. |
| Q54388235 | Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies. |
| Q53260882 | Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype. |
| Q92338797 | Modeling and Predicting Developmental Trajectories of Neuropsychiatric Dimensions Associated With Copy Number Variations |
| Q34214613 | Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease |
| Q26995476 | Of mice and men: molecular genetics of congenital heart disease |
| Q45890603 | Prenatal BACs-on-Beads™: the prospective experience of five prenatal diagnosis laboratories |
| Q90206590 | Prenatal Diagnosis of Microdeletions or Microduplications in the Proximal, Central, and Distal Regions of Chromosome 22q11.2: Ultrasound Findings and Pregnancy Outcome |
| Q39831964 | Prenatal and postnatal findings in small-for-gestational-age fetuses without structural ultrasound anomalies at 18-24 weeks. |
| Q38089841 | Prenatal diagnosis by array-comparative genomic hybridization |
| Q50628160 | Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations. |
| Q97520266 | Prenatal diagnosis of rearrangements in the fetal 22q11.2 region |
| Q48089516 | RETRACTED: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements |
| Q35764564 | Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism |
| Q34582831 | Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning |
| Q90115878 | Reciprocal Copy Number Variations at 22q11.2 Produce Distinct and Convergent Neurobehavioral Impairments Relevant for Schizophrenia and Autism Spectrum Disorder |
| Q38616673 | Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications |
| Q30235312 | Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy |
| Q39373895 | SNP Microarray in FISH Negative Clinically Suspected 22q11.2 Microdeletion Syndrome. |
| Q34491810 | Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication |
| Q39068495 | Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications. |
| Q42478088 | Sperm rates of 7q11.23, 15q11q13 and 22q11.2 deletions and duplications: a FISH approach. |
| Q50789416 | Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis. |
| Q50737118 | The 22q11 deletion: DiGeorge and velocardiofacial syndromes and the role of TBX1. |
| Q30468033 | The 22q11.2 microdeletion: fifteen years of insights into the genetic and neural complexity of psychiatric disorders |
| Q40140280 | The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology |
| Q38872392 | The benefits and limitations of cell-free DNA screening for 22q11.2 deletion syndrome |
| Q90712113 | The copy number variation landscape of congenital anomalies of the kidney and urinary tract |
| Q58833704 | The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication |
| Q33894532 | The importance of copy number variation in congenital heart disease |
| Q35896486 | The mechanism of TGF-β signaling during palate development |
| Q33554172 | Tourette syndrome and klippel-feil anomaly in a child with chromosome 22q11 duplication |
| Q42426648 | Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic. |
| Q38154531 | Velopharyngeal insufficiency: high detection rate of genetic abnormalities if associated with additional features |
| Q40805444 | WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish. |
| Q28079792 | What Is New in Genetics of Congenital Heart Defects? |
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