| scholarly article | Q13442814 |
| P50 | author | John A. Butman | Q37369294 |
| Kenneth H Kraemer | Q55234073 | ||
| Sikandar G Khan | Q56650547 | ||
| P2093 | author name string | Paul S Meltzer | |
| Sarah L Anzick | |||
| Christopher Zalewski | |||
| Gary Stone | |||
| Andrew J Griffith | |||
| Takahiro Ueda | |||
| Carmen C Brewer | |||
| Deborah Tamura | |||
| John J Digiovanna | |||
| Xiaohui Tan | |||
| David Busch | |||
| Daniel Wattendorf | |||
| P2860 | cites work | Two genetic hits (more or less) to cancer | Q22251289 |
| Familial DiGeorge syndrome and associated partial monosomy of chromosome 22 | Q71259725 | ||
| Repair of UV light-induced DNA damage and risk of cutaneous malignant melanoma | Q73014437 | ||
| A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22) | Q73894567 | ||
| Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males | Q74592036 | ||
| Involvement of a palindromic chromosome 22-specific low-copy repeat in a constitutional t(X; 22)(q27;q11) | Q78513387 | ||
| Characterization of a cryptic 3.3 Mb deletion in a patient with a "balanced t(15;22) translocation" using high density oligo array CGH and gene expression arrays | Q80510578 | ||
| The ARFul truth about melanoma susceptibility genes | Q81801948 | ||
| Loss of p14(ARF) confers resistance to heat shock- and oxidative stress-mediated cell death by upregulating β-catenin | Q84409503 | ||
| Role of TBX1 in human del22q11.2 syndrome | Q24298685 | ||
| The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation | Q24337819 | ||
| Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden | Q24675242 | ||
| Chromosomal translocations and palindromic AT-rich repeats | Q27024347 | ||
| Hearing loss and otitis media in velo-cardio-facial syndrome | Q28143779 | ||
| Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis | Q28145709 | ||
| T-box genes in human disorders | Q28187755 | ||
| The INK4a/ARF network in tumour suppression | Q28190064 | ||
| Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice | Q28204189 | ||
| DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1 | Q28204282 | ||
| A cell cycle regulator potentially involved in genesis of many tumor types | Q28251933 | ||
| Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11 | Q28255966 | ||
| Cooperative function of Tbx1 and Brn4 in the periotic mesenchyme is necessary for cochlea formation | Q28506318 | ||
| Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage | Q28585095 | ||
| TBX1 is required for inner ear morphogenesis | Q28587238 | ||
| ARF functions as a melanoma tumor suppressor by inducing p53-independent senescence | Q28591778 | ||
| Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients | Q28592076 | ||
| Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas. | Q30487052 | ||
| The position of t(11;22)(q23;q11) constitutional translocation breakpoint is conserved among its carriers | Q30700635 | ||
| A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies | Q33277820 | ||
| Phylogenomic analysis by chromosome sorting and painting | Q33352133 | ||
| Tbx1 and Brn4 regulate retinoic acid metabolic genes during cochlear morphogenesis | Q33455008 | ||
| Velo-cardio-facial syndrome: 30 Years of study | Q33585486 | ||
| The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence | Q33587107 | ||
| A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2 | Q33638175 | ||
| Beta-catenin deficiency causes DiGeorge syndrome-like phenotypes through regulation of Tbx1. | Q33714238 | ||
| Duplications on human chromosome 22 reveal a novel Ret Finger Protein-like gene family with sense and endogenous antisense transcripts | Q33875918 | ||
| The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats | Q33904580 | ||
| A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21) | Q34050961 | ||
| The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function | Q34290755 | ||
| p14ARF activates a Tip60-dependent and p53-independent ATM/ATR/CHK pathway in response to genotoxic stress | Q34717991 | ||
| A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. | Q35195482 | ||
| Precise localization of NF1 to 17q11.2 by balanced translocation | Q35247332 | ||
| Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients | Q35388414 | ||
| Frequent p16-independent inactivation of p14ARF in human melanoma | Q35541602 | ||
| Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair. | Q35605167 | ||
| Shining a light on xeroderma pigmentosum | Q35757364 | ||
| Velo-cardio-facial syndrome: the pediatric otolaryngologist's perspective | Q36311316 | ||
| p53-Dependent and -independent functions of the Arf tumor suppressor | Q36547718 | ||
| Spectral karyotyping analysis of human and mouse chromosomes | Q36634489 | ||
| Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene | Q36694090 | ||
| Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development | Q36808855 | ||
| The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions | Q36848235 | ||
| Genetic Determinants of Cutaneous Melanoma Predisposition | Q37137000 | ||
| The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma | Q37306830 | ||
| ARF stimulates XPC to trigger nucleotide excision repair by regulating the repressor complex of E2F4. | Q37360067 | ||
| Unfavorable prognosis of CRTC1-MAML2 positive mucoepidermoid tumors with CDKN2A deletions | Q37439401 | ||
| 22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development | Q37669766 | ||
| The ARF tumor suppressor: structure, functions and status in cancer | Q37765233 | ||
| p14ARF expression increases dihydrofolate reductase degradation and paradoxically results in resistance to folate antagonists in cells with nonfunctional p53. | Q40543773 | ||
| A melanoma-associated germline mutation in exon 1beta inactivates p14ARF. | Q40778590 | ||
| Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus | Q41089481 | ||
| Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms | Q42217484 | ||
| Molecular cloning of a translocation breakpoint hotspot in 22q11. | Q42907947 | ||
| A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family | Q44810003 | ||
| Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays | Q47730682 | ||
| Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22). | Q47851233 | ||
| The t(8;21) fusion protein, AML1 ETO, specifically represses the transcription of the p14(ARF) tumor suppressor in acute myeloid leukemia | Q50335773 | ||
| Audiological findings in patients with microdeletion 22q11 (di George/velocardiofacial syndrome). | Q50495548 | ||
| Temporal bone pathology in DiGeorge's syndrome. | Q50588100 | ||
| Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation. | Q52003015 | ||
| Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations. | Q52568551 | ||
| A mutation hotspot at the p14ARF splice site. | Q52857972 | ||
| Germline mutation of ARF in a melanoma kindred | Q57266793 | ||
| Impaired Processing of DNA Photoproducts and Ultraviolet Hypermutability With Loss of p16INK4a or p19ARF | Q57277051 | ||
| Mutations in theINK4a/ARFMelanoma Susceptibility Locus Functionally Impair p14ARF | Q58024946 | ||
| Long AT-rich palindromes and the constitutional t(11;22) breakpoint | Q64387987 | ||
| P433 | issue | 9 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | deafness | Q12133 |
| P304 | page(s) | 1250-1259 | |
| P577 | publication date | 2013-06-03 | |
| P1433 | published in | Human Mutation | Q5937269 |
| P1476 | title | Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency | |
| P478 | volume | 34 |
| Q37133659 | A Point Mutation in DNA Polymerase β (POLB) Gene Is Associated with Increased Progesterone Receptor (PR) Expression and Intraperitoneal Metastasis in Gastric Cancer |
| Q33915581 | Analysis of the t(3;8) of hereditary renal cell carcinoma: a palindrome-mediated translocation |
| Q34785511 | Clinical significance of a point mutation in DNA polymerase beta (POLB) gene in gastric cancer |
| Q92480700 | Dynamically decreased miR-671-5p expression is associated with oncogenic transformation and radiochemoresistance in breast cancer |
| Q35933524 | Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype |
| Q26741394 | Palindrome-Mediated Translocations in Humans: A New Mechanistic Model for Gross Chromosomal Rearrangements |
| Q35000253 | miR-638 mediated regulation of BRCA1 affects DNA repair and sensitivity to UV and cisplatin in triple-negative breast cancer |
| Q36729390 | miR-671-5p inhibits epithelial-to-mesenchymal transition by downregulating FOXM1 expression in breast cancer |
Search more.