Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.
about
t(11;22)(q23;q11.2) In acute myeloid leukemia of infant twins fuses MLL with hCDCrel, a cell division cycle gene in the genomic region of deletion in DiGeorge and velocardiofacial syndromesRNA helicase A is essential for normal gastrulationA mouse model of Rubinstein-Taybi syndrome: defective long-term memory is ameliorated by inhibitors of phosphodiesterase 4Modeling congenital disease and inborn errors of development in Drosophila melanogasterRole of nucleosome remodeling in neurodevelopmental and intellectual disability disordersRubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and managementFrom Learning to Memory: What Flies Can Tell Us about Intellectual Disability TreatmentUltra-Rare Syndromes: The Example of Rubinstein-Taybi SyndromeSurgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case reportGenetic background of supernumerary teethGeneral Anesthesia Causes Epigenetic Histone Modulation of c-Fos and Brain-derived Neurotrophic Factor, Target Genes Important for Neuronal Development in the Immature Rat Hippocampus.Prefrontal consolidation supports the attainment of fear memory accuracyThalidomide embryopathy: a model for the study of congenital incomitant horizontal strabismus.Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literatureRubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.Monozygotic twins discordant for rubinstein-taybi syndromeRubinstein-Taybi syndromeSubmicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population.Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients.Transgenic mice expressing a truncated form of CREB-binding protein (CBP) exhibit deficits in hippocampal synaptic plasticity and memory storage.Presenilin controls CBP levels in the adult Drosophila central nervous system.Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutationsInsights into synaptic function from mouse models of human cognitive disorders.CBP is required for environmental enrichment-induced neurogenesis and cognitive enhancement.Perioperative management of a patient of Rubinstein-Taybi syndrome with ovarian cyst for laparotomy.Conformational control of the binding of the transactivation domain of the MLL protein and c-Myb to the KIX domain of CREBThe role of histone acetylation in memory formation and cognitive impairments.High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysisCrebinostat: a novel cognitive enhancer that inhibits histone deacetylase activity and modulates chromatin-mediated neuroplasticity.A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutationExon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia.Autosomal deletion syndrome 46,XX,18p-: a new case report with absence of IgA in serum.Landscape of transcriptional deregulations in the preeclamptic placenta.Experience-dependent epigenetic modifications in the central nervous system.Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.Keloids: an unwanted spontaneity in rubinstein-taybi syndromeWhole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.
P2860
Q24641962-DC71B291-FFDE-442C-8F78-6524C5F2317BQ24653518-7DBF32B4-29C8-41B0-85C5-74D0F1E2F10EQ24683143-A251AFCB-BB6E-4DD2-8DEA-E7384DA38CBFQ26765017-7542658F-1038-434B-9A38-99D6BCD20A2FQ26829360-7613DA70-C1C9-4B44-A0F5-2A08AD759BCAQ26863410-52DD4BA6-72D4-4AD4-82B4-AE8844BF907EQ27020947-76721A86-7502-4199-902A-22DACFB5F5D1Q28080220-CDE188E7-8266-4C96-BC07-5C3CE91ED02FQ28081257-1CDAEDAD-FBE3-4EFB-AFBB-0C8EADB2D8DAQ28087006-E5E59E97-1226-4783-9F7E-97CEB86AAA49Q30277072-0FC1DEFD-81C8-4129-9503-AC0737971EB9Q30405868-029DD306-2052-4A66-AAEB-05BEFD676133Q30502697-D00A425D-14D7-4518-8A02-15F70789A5F8Q30577877-E34B989E-BCA4-42FC-B6D8-40E62FD5FF05Q33260914-715D9619-3611-4A3D-9056-D8A809BCC2D4Q33668882-DAD09584-5F31-4BD7-BC88-1398A05D15BAQ33675859-E998D301-1ABA-4614-876C-5AB979E5B3D8Q33678528-8471254D-02CE-43E9-92F5-35AA7CEA7316Q33683139-07D48FA6-889A-4388-9139-DF549D1ADC0DQ33736104-2206B2A4-29A3-4A6A-ABB4-41BCD714AB68Q33778517-343A72B0-D838-48DD-854F-66CBB8C17A30Q33864543-550001FB-ED0F-47CA-803D-B61B3C70382AQ33891976-B2AE6C25-BE2E-4260-BEFC-4A4AE3C789E6Q33964940-515E7D7C-4BF9-473B-A9EF-6F2B2CA4226BQ34028180-ABEC0697-E446-4CE1-B0FD-C6C018F404E3Q34124194-AC0902B0-8A9B-4A3F-9393-25055CC13C44Q34205849-F9DE823B-14EF-40C3-9935-6D746E5F9A22Q34279114-D7E7CA8B-2872-46B1-8EF9-C37037308B43Q34329236-EFFDBF8D-75A6-4673-B5A0-AE1F32C0188AQ34329880-BD26BBE4-C9D9-4DC7-85D7-76307271E888Q34363020-F268B82D-2B76-47AA-B7D1-58C86F167EFBQ34576234-A113A1EE-E88E-47F9-80C4-C70F2842A9E9Q34596078-A104A3E8-9C15-484C-BEB1-C452744ABEA9Q34633994-53985A66-A60B-47E9-8118-67688A5A6AC4Q34778717-82BF3D9A-44AE-4D9E-AC73-248912E0DA76Q34954649-3EC23CC8-3ED1-4082-A256-E6D9C0753D46Q35194477-F1B0FFFA-082A-49C2-A9E1-1CA2C631AC74Q35194510-459F5F96-1343-4AAB-AE59-DD5B9AE65934Q35215267-0E0BCC6D-EB04-42F1-86C4-57F23F78BF2EQ35381318-71ACB6C1-96A7-469F-93D0-A1D451027532
P2860
Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.
description
1963 nî lūn-bûn
@nan
1963 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1963 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1963年の論文
@ja
1963年論文
@yue
1963年論文
@zh-hant
1963年論文
@zh-hk
1963年論文
@zh-mo
1963年論文
@zh-tw
1963年论文
@wuu
name
Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.
@ast
Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.
@en
type
label
Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.
@ast
Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.
@en
prefLabel
Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.
@ast
Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.
@en
P1476
Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.
@en
P2093
RUBINSTEIN JH
P304
P577
1963-06-01T00:00:00Z