Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements
about
Chromosomal translocations and palindromic AT-rich repeats22q11 deletion syndrome: current perspective.Practical guidelines for managing patients with 22q11.2 deletion syndromeChronic overload of SEPT4, a parkin substrate that aggregates in Parkinson's disease, causes behavioral alterations but not neurodegeneration in miceIntragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1BBehavior, brain, and genome in genomic disorders: finding the correspondences.An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11Non-B DNA structure-induced genetic instability and evolution.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 triplicationCharacteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients.Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.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.Searching for non-B DNA-forming motifs using nBMST (non-B DNA motif search tool)Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.22q11.2 deletion syndrome: attitudes towards disclosing the risk of psychiatric illness.Genetics and public health: the experience of a reference center for diagnosis of 22q11.2 deletion in Brazil and suggestions for implementing genetic testing.Derivative 11;22 (emanuel) syndrome: a case report and a review.Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndromeThe intertwining of transposable elements and non-coding RNAsGeneralized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.Handling small supernumerary marker chromosomes in prenatal diagnostics.Epigenetics, genomic mutations and cognitive function.Marker chromosomes.An unusual case of Cat-Eye syndrome phenotype and extragonadal mature teratoma: review of the literature.Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms.Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.DiGeorge Syndrome Associated with Azoospermia: First case in the literature.Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1).Distinct disorders affecting the brain share common genetic origins.Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients.High-resolution fish on DNA fibers for low-copy repeats genome architecture studiesCognitive deficit, learning difficulties, severe behavioral abnormalities and healed cleft lip in a patient with a 1.2-mb distal microduplication at 22q11.2.Wide clinical variability in cat eye syndrome patients: four non-related patients and three patients from the same family.A Comprehensive Craniofacial Study of 22q11.2 Deletion Syndrome.RETRACTED: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.Atypical microdeletion in 22q11 deletion syndrome reveals new candidate causative genes: A case report and literature review.Visual processing deficits in 22q11.2 Deletion Syndrome.Neuropsychological profile of Italian children and adolescents with 22q11.2 deletion syndrome with and without intellectual disability.Congenital heart disease and genetic syndromes: new insights into molecular mechanisms.
P2860
Q27024347-7F62AA75-1AE8-4E6B-B157-2B67D7447179Q27687449-A59F6185-CD84-417A-9038-F41B4EB19C77Q28237543-D1DFA507-2001-4107-9B4C-4FFDC0937638Q30450371-66EA293E-BE96-4ADF-B1FD-0752C70C43C7Q33736185-FB8A1409-D34F-4864-BAEF-19F658E9D5A8Q34013822-FE80C741-E1F9-4415-9CD9-80DB07A186D7Q34208328-20166601-39FD-4EFC-A178-5395A1ACD6C6Q34328639-1B86B686-6C9B-4EDB-98D8-356E602C2D5AQ34473652-259B702C-3E60-44A9-9448-EAAD4A2BA64AQ34491810-C3BE8F2C-1399-4D2A-ADED-BA832A88DCEDQ34559423-19AB1A1C-CA5C-44DA-92A8-D97AD42DB278Q35079561-AB9A5538-95FF-4D95-A28D-E93E08316097Q35752792-22F832B8-AE87-4673-9433-FE7300D3958DQ35954644-0F7E8C7C-85DD-464D-9D56-0235D259891CQ36060851-02297E5E-4EF5-4E6E-A9E8-A9D28569F5F3Q36431058-82AE8B2C-C7B1-4AFB-A23F-97402E483945Q36511362-737B1524-FE51-423C-8D03-681619AC171BQ36837814-665E9584-4F1C-43B0-9F24-478AED07BC7CQ36977128-185F85A8-07E1-43F0-B1BF-A7D0CC49FAF2Q37091800-DFD862BF-1774-4DF5-81EF-A28C5FC15632Q37356327-282200A4-E9CD-4399-B20C-DD801A44D636Q37478688-7022CFFA-7ECA-4412-B13C-312D2B876A36Q37563075-CD6EFA69-E542-4CCE-8001-BD5378829837Q38010219-2567BCD2-1348-48C7-9D50-F13276D7822CQ38021444-6363DF64-C172-46BD-94D4-321F220228C4Q38542088-94D71D7A-B828-413C-8487-56B084143C93Q39068495-D1AA77E7-1FEB-4CED-AE66-F2825A65274CQ41455788-34647D17-6C9D-4A40-B1BA-E5174B022018Q41734111-9AC93C56-EE83-48D7-9CEE-1F78682433C3Q41768998-E5493B3C-9263-41A4-ACA6-E7F953552784Q41774584-33CBE80A-D337-4D34-915E-503662E0BF9FQ41909121-C17A1CCC-0F0D-42EB-9008-8753941D6998Q42150104-F8E8887F-D5F7-42EB-ADD4-A60D00C42669Q43743219-A7DBDAFF-18B8-499B-ACD4-74293C23ADD0Q47896727-4774FDCE-31D8-4A2E-BA03-5EB8E6D663B5Q48089516-F3DD4E2B-A954-4F06-A5B2-0D9311BB72F9Q49712030-42D6103E-9736-446A-82A7-D23647988810Q50419917-153288B8-0630-41BA-AB74-C90653C7BD57Q50789313-F701B9C0-77AD-449F-97D7-112601D2FC84Q51835990-43B3A314-B1BE-45A1-89C6-AFB99C23E938
P2860
Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements
description
2008 nî lūn-bûn
@nan
2008 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements
@ast
Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements
@en
type
label
Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements
@ast
Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements
@en
prefLabel
Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements
@ast
Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements
@en
P2860
P356
P1476
Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements
@en
P2093
Beverly S Emanuel
P2860
P356
10.1002/DDRR.3
P577
2008-01-01T00:00:00Z