The Philadelphia story: the 22q11.2 deletion: report on 250 patients - Wikidata - awgldk - TriplyDB

The Philadelphia story: the 22q11.2 deletion: report on 250 patients

The Philadelphia story: the 22q11.2 deletion: report on 250 patients

http://www.wikidata.org/entity/Q28140691

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Alagille syndrome: pathogenesis, diagnosis and management Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden Cytogenomic Aberrations in Congenital Cardiovascular Malformations Practical guidelines for managing patients with 22q11.2 deletion syndrome Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients.The effect of hypocalcemia in early childhood on autism-related social and communication skills in patients with 22q11 deletion syndrome Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum Velopharyngeal anatomy in 22q11.2 deletion syndrome: a three-dimensional cephalometric analysis MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients.Increased incidence and size of cavum septum pellucidum in children with chromosome 22q11.2 deletion syndrome.Discrepancies in parent and teacher ratings of social-behavioral functioning of children with chromosome 22q11.2 deletion syndrome: implications for assessment.Behavior, brain, and genome in genomic disorders: finding the correspondences.Obstructive sleep apnea syndrome in children with 22q11.2 deletion syndrome after operative intervention for velopharyngeal insufficiency Subthreshold psychotic symptoms in 22q11.2 deletion syndrome.Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease.Regional cortical volumes and congenital heart disease: a MRI study in 22q11.2 deletion syndrome A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children.Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome.The phenotype of recurrent 10q22q23 deletions and duplications.22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci.A tale worth telling: the impact of the diagnosis experience on disclosure of genetic disorders.Visuospatial and numerical cognitive deficits in children with chromosome 22q11.2 deletion syndrome.Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.Neurocognitive profile in 22q11 deletion syndrome and schizophrenia.Developmental malformation of the corpus callosum: a review of typical callosal development and examples of developmental disorders with callosal involvement.Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome.22q11.2 microdeletion in two adolescent patients who presented with convulsion.Association of schizophrenia in 22q11.2 deletion syndrome and gray matter volumetric deficits in the superior temporal gyrus.Prenatally diagnosed pulmonary atresia with ventricular septal defect: echocardiography, genetics, associated anomalies and outcome.Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome.Hippocampal volume reduction in children with chromosome 22q11.2 deletion syndrome is associated with cognitive impairment.Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era An affected core drives network integration deficits of the structural connectome in 22q11.2 deletion syndrome.Failure to thrive as presentation in a patient with 22q11.2 microdeletion.Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.

P2860

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P2860

The Philadelphia story: the 22q11.2 deletion: report on 250 patients

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