Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
about
In search of the optimal surgical treatment for velopharyngeal dysfunction in 22q11.2 deletion syndrome: a systematic reviewPractical guidelines for managing adults with 22q11.2 deletion syndrome22q11 deletion syndrome: current perspective.Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit developmentA novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70Functional gene-expression analysis shows involvement of schizophrenia-relevant pathways in patients with 22q11 deletion syndromeDeletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data.Terminal deletion of 11q with significant late-onset combined immune deficiency.Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?The importance of understanding cognitive trajectories: the case of 22q11.2 deletion syndrome.Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our timesSchizophrenia-Related Microdeletion Impairs Emotional Memory through MicroRNA-Dependent Disruption of Thalamic Inputs to the Amygdala.Newborn screening for SCID in New York State: experience from the first two years.Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome.Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome.Self-reported speech problems in adolescents and young adults with 22q11.2 deletion syndrome: a cross-sectional cohort study.22q11 deletion syndrome: a review of the neuropsychiatric features and their neurobiological basis.CHARGE syndrome: a review of the immunological aspects.Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients.Mapping the deletion endpoints in individuals with 22q11.2 deletion syndrome by droplet digital PCRGenetic Drivers of Kidney Defects in the DiGeorge Syndrome.Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.Genome architecture and its roles in human copy number variation.22q11.2 deletion status and disease burden in children and adolescents with tetralogy of Fallot.Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome22q11.2 microdeletion in two adolescent patients who presented with convulsion.The case for newborn screening for severe combined immunodeficiency and related disorders[Microdeletion syndromes (Williams syndrome and deletion syndrome 22q11) at CHU Hassan II of Fez: report of 3 observations]Perceived burden and neuropsychiatric morbidities in adults with 22q11.2 deletion syndrome.Glutamatergic markers, age, intellectual functioning and psychosis in 22q11 deletion syndrome.Current Gaps in Understanding the Molecular Basis of FXTASReproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome.Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion SyndromeFunctional outcomes of adults with 22q11.2 deletion syndromeClinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular eraEpilepsy and Other Neuropsychiatric Manifestations in Children and Adolescents with 22q11.2 Deletion Syndrome.Genetics and public health: the experience of a reference center for diagnosis of 22q11.2 deletion in Brazil and suggestions for implementing genetic testing.Inspiratory muscle strength training in infants with congenital heart disease and prolonged mechanical ventilation: a case report.22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization.Management of Anesthesia under Extracorporeal Cardiopulmonary Support in an Infant with Severe Subglottic Stenosis.
P2860
Q26825579-D086983B-655D-45B1-AD2F-65F2A1E7891DQ27002798-FE975B0B-4EDE-4353-A232-C2C6914135B7Q27687449-E1CD7EBD-92E9-40B6-B86D-6DAAD85D1210Q28081179-1AD5A835-C472-4547-A130-A36DE78F79CEQ28117849-0002302C-E77E-407D-A651-71D917C3EE0AQ28730977-F965A0CE-DE9E-4629-B04F-2DFAA4039E1AQ31063778-4BB3EA21-4AA8-481F-9671-38F3DF210FB1Q33411474-390BD761-A7C5-41E6-8563-3B72F6839E5BQ33619312-D9406F82-940E-4960-BE16-957C58DA34F8Q33629249-316C4E60-7CC3-4F82-9749-47B0CDCB67C7Q33656756-8CBA021C-A2F0-4B34-A9A5-AF2B9D95B7C1Q33759010-07E07C19-4AA1-4D37-B329-71B57AFDE2EFQ33877733-A44B086B-15B9-48ED-9653-7F74BA840D36Q33989539-87E3BBFB-94CD-4C8D-8DA0-9AE56F00AAB8Q34131454-39B0E0AB-486C-4EEB-B343-06A2FBB64B5EQ34264034-6E77662F-6D2D-4C42-8F10-3D35E78E6069Q34393037-25352DF5-F7CA-4955-8B8D-888CB06FBB55Q34463345-50A02B3D-95AE-4F43-B04C-30DEB4CCC619Q34559423-B2AB66DF-5C59-4DEF-B474-CC45DC14630AQ34650701-DC1B3358-6D00-4228-8A9B-51189E640EBAQ34680591-0F7A8F13-8055-4142-9051-B2EB231EF8CFQ35079561-FAB43A4C-228E-4920-9535-871EBE7DF8C0Q35088675-E9454F47-F47E-4EF1-9C15-3B92E8FC7494Q35249244-EAE3A103-5013-4989-8C6F-296B2DA30459Q35546471-52DF8B33-5F0B-47B9-8822-D3B675D5C1D6Q35712434-869C9198-F005-4775-B401-9F64644D110BQ35761004-8FF143CD-FD04-4AB0-9B9D-BF0C3463DC0EQ35767606-7348AEED-A8D0-444D-8D33-955734ECC357Q35893090-ED5FCC18-2ECB-44F7-9B2B-FD0FAC278638Q35956869-164DF609-4E36-422E-AC88-F5D96276F0E5Q36048562-1A989545-4E31-4BB2-8D3D-30C77068F05CQ36052504-A74372E9-40F0-40C5-AA1F-C2E5A244AF58Q36281669-B37D0481-850D-450F-9CA6-00F78AB82FF8Q36301370-6A71455E-5C20-4587-8681-829EF7149923Q36380279-4914C31B-6466-4964-A03D-C515231C20B4Q36460665-75577325-F1D0-4B2E-9216-037F2ADA6A14Q36511362-A06EE345-41B1-4C33-A6D2-3FFAE566B90DQ36583890-C1F12724-FB58-40BC-908F-65F4092AEAAEQ36634974-9620B0D3-BE93-4C0A-844A-1F6C779C0AAAQ36644055-C351F7B7-C5A6-461A-A9E9-CA80AB1EDF37
P2860
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
@ast
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
@en
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
@nl
type
label
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
@ast
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
@en
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
@nl
prefLabel
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
@ast
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
@en
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
@nl
P3181
P1433
P1476
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
@en
P2093
Kathleen E Sullivan
P3181
P356
10.1097/MD.0B013E3182060469
P407
P577
2011-01-01T00:00:00Z