A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects
about
MAP'ing CNS development and cognition: an ERKsome process22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and ReviewDetailed analysis of 22q11.2 with a high density MLPA probe setA method for accurate detection of genomic microdeletions using real-time quantitative PCR.Molecular determinants of neural crest migrationMouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest developmentDeletion of ERK2 mitogen-activated protein kinase identifies its key roles in cortical neurogenesis and cognitive function.A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and reviewAtypical 22q11.2 deletion in a patient with DGS/VCFS spectrumMolecular mechanisms and diagnosis of chromosome 22q11.2 rearrangementsDelineating Rearrangements in Single Yeast Artificial Chromosomes by Quantitative DNA Fiber Mapping.Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) familiesPrenatal diagnosis of the 22q11.2 deletion syndrome.Constitutional growth delay pattern of growth in velo-cardio-facial syndrome: longitudinal follow up and final height of two casesMonogenic and chromosomal causes of isolated speech and language impairment.Mapping the deletion endpoints in individuals with 22q11.2 deletion syndrome by droplet digital PCR22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndromeBehavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications.When half is not enough: gene expression and dosage in the 22q11 deletion syndrome.Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndromeIdentification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report.Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system.Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.Phenotypic variability of distal 22q11.2 copy number abnormalities
P2860
Q24621710-8EFF089A-74EF-4993-9B14-D1348BFA9E4DQ24629063-BECCE22D-17C6-46A7-A368-48E8D74979A9Q24648626-95467C7D-2A38-4796-BA85-0F5116BF4925Q25257530-18B021CB-B2E7-4B91-9F42-C6A722889892Q28190878-42749203-8F0F-4169-8A75-4D5763843724Q28508306-875CB1E7-2ADD-4290-BD65-BCCC2D4ADF59Q30629384-984E73AC-5448-4B15-AA55-789EB1711966Q33458936-09067CBA-3043-4308-BAB9-AF001729BA4CQ33608610-1C92A8A9-33BF-4225-A670-984AE68B1B55Q33608641-26D8405D-3805-4811-9169-3F570DB50AA8Q33870690-2AEFD749-EEAF-4890-BDC9-E54FC8F0C197Q34146317-1342488E-ACC3-40A3-A8EA-5DD3FA2282B5Q34242714-3C445E52-7642-43DA-BFF9-D60B9B952C17Q34422985-9D0BDBDB-2B60-4424-89D9-A704EE5DDB56Q34483411-A8C2D509-0B62-4199-A918-86B5F1DD69C1Q34650701-7D804620-8277-416C-AF6F-78AD7B155499Q34733853-AAF4CBDE-70D9-4CC3-A3FB-99B19FB926B5Q35115385-F9352FAB-D9C6-4BEB-B74B-2246A3BE91B4Q35907753-E38D1032-0DCF-4CC8-B9B8-36F91ACD81B5Q36914294-03D8AD48-4943-43F5-9DB1-A1EA5048F0E2Q37108404-6CF7569F-7DF7-4896-881F-30B1F7FD91BBQ37147137-73BCE4DA-109B-41C5-8582-A79AF2B3234DQ39068495-68EEC58A-8C0D-487E-A6E4-1BAC8FC9813AQ41760688-7739D6F7-308A-4349-872A-24678847DE2EQ42217484-6532021F-298A-4715-A6E3-02AFB93DD6A0Q46732735-3F1EE602-CC6B-4741-9BF1-93C469361F9FQ54531000-415642ED-5C9F-4B95-938E-9F9C6EB26CBAQ56232663-117043E2-2C5A-4C42-8B71-25ADECC6D243
P2860
A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects
description
1999 nî lūn-bûn
@nan
1999 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
A 22q11.2 deletion that exclud ...... uncal and craniofacial defects
@ast
A 22q11.2 deletion that exclud ...... uncal and craniofacial defects
@en
A 22q11.2 deletion that exclud ...... uncal and craniofacial defects
@nl
type
label
A 22q11.2 deletion that exclud ...... uncal and craniofacial defects
@ast
A 22q11.2 deletion that exclud ...... uncal and craniofacial defects
@en
A 22q11.2 deletion that exclud ...... uncal and craniofacial defects
@nl
prefLabel
A 22q11.2 deletion that exclud ...... uncal and craniofacial defects
@ast
A 22q11.2 deletion that exclud ...... uncal and craniofacial defects
@en
A 22q11.2 deletion that exclud ...... uncal and craniofacial defects
@nl
P2093
P356
P1476
A 22q11.2 deletion that exclud ...... uncal and craniofacial defects
@en
P2093
B S Emanuel
E H Zackai
J M McGrath
S C Saitta
T H Shaikh
P356
10.1086/302514
P407
P577
1999-08-01T00:00:00Z