Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t(2;16)(q36.3;p13.3).
about
A diverse family of proteins containing tumor necrosis factor receptor-associated factor domainsA mouse model of Rubinstein-Taybi syndrome: defective long-term memory is ameliorated by inhibitors of phosphodiesterase 4t(10;16)(q22;p13) and MORF-CREBBP fusion is a recurrent event in acute myeloid leukemiaTranscriptional/epigenetic regulator CBP/p300 in tumorigenesis: structural and functional versatility in target recognition.Further peer review failures.Drosophila Eye Model to Study Neuroprotective Role of CREB Binding Protein (CBP) in Alzheimer's Disease.Neurogenetic dissection of conditioned behavior: evolution by analogy or homology?First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.Structure and chemistry of the p300/CBP and Rtt109 histone acetyltransferases: implications for histone acetyltransferase evolution and functionFrom Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.Rubinstein-taybi syndrome: a female patient with a de novo reciprocal translocation t(2; 16)(q36.3; p13.3) and dysgranulopoiesis.
P2860
Q24291050-B96EEC3E-ADDE-4634-AF96-DB1D4D2061CEQ24683143-438F0508-6AD2-4B98-9A6A-23E758CF6C38Q28180941-6BF1DE78-9B39-473D-83F7-461155807B71Q34035076-0D494975-34AF-49FF-8A0F-B3A846492C04Q35232458-FF1A3C23-7E2C-4CEB-9469-843FEF10420DQ35772931-B3863F75-F5A6-4034-9C00-D7AA94113946Q35809380-5E96AA1A-2C12-4F2F-AC29-CFD47B48D137Q36222591-86EE06B1-C1BC-49F1-A672-BC79BC3CD844Q37290564-458335D4-D056-4890-8A89-BEAFCFB851D5Q40408740-5BC188CB-6F5D-4999-9D67-48D8604B31F8Q42924905-45C48E49-6BD6-4FA1-8ED1-A3C113C5675B
P2860
Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t(2;16)(q36.3;p13.3).
description
2000 nî lūn-bûn
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name
Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t
@nl
Rubinstein-Taybi syndrome caus ...... location t(2;16)(q36.3;p13.3).
@en
type
label
Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t
@nl
Rubinstein-Taybi syndrome caus ...... location t(2;16)(q36.3;p13.3).
@en
prefLabel
Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t
@nl
Rubinstein-Taybi syndrome caus ...... location t(2;16)(q36.3;p13.3).
@en
P2093
P2860
P1476
Rubinstein-Taybi syndrome caus ...... location t(2;16)(q36.3;p13.3).
@en
P2093
D J Peters
H G Dauwerse
J C Dorsman
M H Breuning
R C Hennekam
P2860
P356
10.1002/(SICI)1096-8628(20000501)92:1<47::AID-AJMG8>3.0.CO;2-H
P577
2000-05-01T00:00:00Z