| scholarly article | Q13442814 |
| P2093 | author name string | B S Emanuel | |
| E H Zackai | |||
| D M McDonald-McGinn | |||
| C M A van Ravenswaaij-Arts | |||
| D A Driscoll | |||
| L H Hoefsloot | |||
| S C Saitta | |||
| N Corsten-Janssen | |||
| W S Kerstjens-Frederikse | |||
| K A Dickinson | |||
| R Derks | |||
| P2860 | cites work | Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype | Q24297781 |
| Mutations in a new member of the chromodomain gene family cause CHARGE syndrome | Q24300737 | ||
| Characterization of the CHD family of proteins | Q24317090 | ||
| CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene | Q24322458 | ||
| Immunological abnormalities in CHARGE syndrome | Q24336900 | ||
| CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome | Q24595634 | ||
| VACTERL/VATER Association | Q24600367 | ||
| CHD7 cooperates with PBAF to control multipotent neural crest formation | Q24630725 | ||
| Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome | Q24634411 | ||
| Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome | Q24648502 | ||
| Detailed analysis of 22q11.2 with a high density MLPA probe set | Q24648626 | ||
| Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome | Q24652747 | ||
| Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome | Q24657612 | ||
| Retracted: Tbx1 Regulates the BMP-Smad1 Pathway in a Transcription Independent Manner | Q27863405 | ||
| Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions | Q28260716 | ||
| Mutation update on the CHD7 gene involved in CHARGE syndrome | Q28263190 | ||
| CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome | Q28278211 | ||
| Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome | Q28279734 | ||
| A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features | Q28299520 | ||
| Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) | Q28302240 | ||
| Tbx1 regulates population, proliferation and cell fate determination of otic epithelial cells | Q28509508 | ||
| TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome | Q28512803 | ||
| Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome | Q28513290 | ||
| Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice | Q28586874 | ||
| Multiple mutations in mouse Chd7 provide models for CHARGE syndrome | Q28587098 | ||
| Mesodermal expression of Tbx1 is necessary and sufficient for pharyngeal arch and cardiac outflow tract development | Q28587491 | ||
| Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract | Q28588800 | ||
| Tbx1 expression in pharyngeal epithelia is necessary for pharyngeal arch artery development | Q28589109 | ||
| Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes | Q28594392 | ||
| Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome | Q30425553 | ||
| Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome | Q30460276 | ||
| The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear. | Q30474131 | ||
| Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. | Q30490992 | ||
| CHD7 targets active gene enhancer elements to modulate ES cell-specific gene expression | Q33640298 | ||
| Features of DiGeorge syndrome and CHARGE association in five patients | Q33679844 | ||
| CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features | Q33903396 | ||
| CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis | Q34083664 | ||
| Study of smell and reproductive organs in a mouse model for CHARGE syndrome. | Q34328503 | ||
| Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer | Q35963888 | ||
| Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns | Q37150865 | ||
| CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. | Q37850225 | ||
| Immunological aspects of 22q11.2 deletion syndrome | Q37943798 | ||
| Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues. | Q38304102 | ||
| Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1). | Q41734111 | ||
| CHARGE association: an update and review for the primary pediatrician | Q41739886 | ||
| Radial aplasia and chromosome 22q11 deletion | Q41810719 | ||
| BMPs and FGFs target Notch signalling via jagged 2 to regulate tooth morphogenesis and cytodifferentiation | Q42157352 | ||
| Congenital T cell deficiency in a patient with CHARGE syndrome | Q42585257 | ||
| Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects | Q43075479 | ||
| A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome. | Q47844332 | ||
| Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome. | Q50436378 | ||
| T-cell immunodeficiency in CHARGE syndrome | Q50449128 | ||
| Oculo-auriculo-vertebral spectrum and the CHARGE association: clinical evidence for a common pathogenetic mechanism. | Q50514205 | ||
| Deletion in chromosome region 22q11 in a child with CHARGE association. | Q51992919 | ||
| Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations. | Q52568551 | ||
| Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH. | Q52602652 | ||
| Defects in vestibular sensory epithelia and innervation in mice with loss ofChd7 function: Implications for human CHARGE syndrome | Q62937938 | ||
| Special imaging casebook. CHARGE association-DiGeorge syndrome with congenital short esophagus and single kidney | Q77213356 | ||
| Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS) | Q79972760 | ||
| Updated diagnostic criteria for CHARGE syndrome: a proposal | Q81309335 | ||
| Complete DiGeorge syndrome associated with CHD7 mutation | Q81430425 | ||
| Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism | Q82412177 | ||
| The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome | Q83594329 | ||
| P433 | issue | 5 | |
| P921 | main subject | CHARGE syndrome | Q1023604 |
| P304 | page(s) | 235-245 | |
| P577 | publication date | 2013-05-28 | |
| P1433 | published in | Molecular syndromology | Q26842514 |
| P1476 | title | More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated | |
| P478 | volume | 4 |
| Q30420622 | A novel CHD7 mutation in a Chinese patient with CHARGE syndrome |
| Q39933166 | A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome |
| Q50701627 | Altered Tbx1 gene expression is associated with abnormal oesophageal development in the adriamycin mouse model of oesophageal atresia/tracheo-oesophageal fistula. |
| Q34463345 | CHARGE syndrome: a review of the immunological aspects |
| Q30829917 | CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes |
| Q42364033 | Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports. |
| Q44919513 | Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula |
| Q37408989 | Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome |
| Q41811985 | Epistatic interactions between Chd7 and Fgf8 during cerebellar development: Implications for CHARGE syndrome. |
| Q26786457 | Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome |
| Q47228020 | Guidelines in CHARGE syndrome and the missing link: Cranial imaging. |
| Q34315506 | Inappropriate p53 activation during development induces features of CHARGE syndrome |
| Q26750385 | Involvement of Fibroblast Growth Factors and Their Receptors in Epididymo-Testicular Descent and Maldescent |
| Q90505667 | Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome |
| Q38167633 | Ocular involvement in primary immunodeficiency diseases |
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