about
Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in velo-cardio-facial syndromeIsolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndromeIdentification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndromeCharacterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11Microduplication and triplication of 22q11.2: a highly variable syndrome.Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.Genomic disorders on 22q11Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locusAbraham's children in the genome era: major Jewish diaspora populations comprise distinct genetic clusters with shared Middle Eastern AncestryComparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organizationA Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic FamilyA common molecular basis for rearrangement disorders on chromosome 22q11Meiotic pachytene arrest in MLH1-deficient miceTBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndromeMammalian TBX1 preferentially binds and regulates downstream targets via a tandem T-site repeatThe 22q11 deletion syndrome candidate gene Tbx1 determines thyroid size and positioningA Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesisTissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients.Mesodermal Tbx1 is required for patterning the proximal mandible in miceSuppression of neural fate and control of inner ear morphogenesis by Tbx1Characterization of the past and current duplication activities in the human 22q11.2 regionDual embryonic origin of the mammalian otic vesicle forming the inner ear.A 200-kb region of human chromosome 22q11.2 confers antipsychotic-responsive behavioral abnormalities in mice.Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in miceIdentification of putative retinoic acid target genes downstream of mesenchymal Tbx1 during inner ear developmentConditional and constitutive expression of a Tbx1-GFP fusion protein in mice.Traffic of genetic information between segmental duplications flanking the typical 22q11.2 deletion in velo-cardio-facial syndrome/DiGeorge syndrome.Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome.Tbx1 and Brn4 regulate retinoic acid metabolic genes during cochlear morphogenesis.A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients.Tbx1 is required autonomously for cell survival and fate in the pharyngeal core mesoderm to form the muscles of mastication.Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.AT-rich palindromes mediate the constitutional t(11;22) translocation.Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.Association between autism spectrum disorder in individuals with velocardiofacial (22q11.2 deletion) syndrome and PRODH and COMT genotypesCleft palate, retrognathia and congenital heart disease in velo-cardio-facial syndrome: a phenotype correlation study.Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.
P50
Q22004150-DF2166EF-CA9E-4E04-937E-880B5FD278A9Q24311578-89429110-D543-41E9-80AB-E56A01FCA51FQ24314358-D8AAF902-2AC8-450B-838B-C5EE85DE0450Q24317602-ADFDAE9A-BC35-4B8A-8247-20DA082FEB8CQ24322620-C27BAB20-484C-4FDF-9E68-AA6A4FBE2880Q24531527-7534A4AD-5BCD-449D-856D-BD0B4C420F6BQ24540203-A0F57852-0CC5-4C67-8C4D-8DB438D47B01Q24563977-CF4AFA0A-22B0-41AA-9CD0-AACB73EA94A4Q24621642-7E3A91B9-599F-4EBD-A0E5-1E4C4323D409Q24632067-65C69CCB-9DFF-4EA6-926E-0A9EA0124CCFQ24646077-8ED4E924-9C87-477F-B2B2-A8487CE0F9EFQ28116585-4072B87B-C973-49D2-AFCC-5546E9096A46Q28137663-D6A3AD88-84C2-477D-BD01-251E4DCEE025Q28510650-A407A82A-008A-4B78-8855-D1D754FB3549Q28512803-F1942DED-16A2-4CF0-9B88-BC6F45291C67Q28538459-60B050E7-B5ED-4AB4-96D8-1A9803049557Q28587464-1227411A-EF1E-48D6-98C1-55935B5C4EECQ28589314-8AB947B1-6BFC-4CAC-93F8-464E75B6D40DQ28592076-39EE5C86-1F06-4FFE-8F80-DDEACD4A1BE0Q28592838-CED4DB19-D97A-4C7E-A746-A2E46AC16409Q28593065-EAD3AFEF-B68B-408B-AFF9-0D53E410F2B2Q28742657-D71A082A-9683-4ED9-8B76-9AD79FCBDDDBQ29395212-943D1A98-E7E7-4AD4-BFF3-04AE4C89B9F8Q30476572-2F17B71C-B976-4676-AA03-7620ED7740E8Q30479118-D666B941-0397-46C2-8CAA-70F7CE2D29C4Q30505432-831A257F-889B-4F08-AA1B-249DAB397F9EQ31126889-3C7F0A3A-319B-49D1-910B-A418ABA2DFE2Q33226015-578D60F2-970D-4495-A5B2-2F7F03982E72Q33293046-8242B2B7-13EF-4956-8FB1-00663D1A037EQ33455008-618EF181-A40B-4FB6-AC5C-722ADC2657C1Q33903341-35B69463-05E1-4643-99A4-04F64ACA9000Q33920705-6B3E73BC-103A-4610-90C6-6357426E6074Q33992163-23E6AE06-D5A1-44C2-99CA-C6436EF22A7BQ34043814-C722F3BD-15CA-4CA0-AF2E-F4C247B39928Q34389097-2A02392F-934E-45B0-A2CF-944D75B3A3BEQ34680591-79212356-B7C0-49A3-B474-DCE299939ED6Q34823932-117373FA-EF7C-4FED-8327-9C2BF431BD00Q35182065-FCE54D2B-8273-41C3-B1B5-92282B401B51Q35388414-253AD5B1-30AE-4B08-A92A-F073140B3528Q35698928-D54257F4-90A9-4A50-9885-732DEAEE2615
P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Bernice E Morrow
@es
Bernice E. Morrow
@en
Bernice E. Morrow
@nl
Bernice E. Morrow
@sl
type
label
Bernice E Morrow
@es
Bernice E. Morrow
@en
Bernice E. Morrow
@nl
Bernice E. Morrow
@sl
prefLabel
Bernice E Morrow
@es
Bernice E. Morrow
@en
Bernice E. Morrow
@nl
Bernice E. Morrow
@sl
P106
P1153
7006985262
P21
P31
P496
0000-0002-8076-4726
P569
2000-01-01T00:00:00Z