| Q57199452 | A CGH study of 27 patients with CHARGE association |
| Q64241286 | A Study on Pattern of Retinal Detachment in Patients with Choroidal Coloboma and Its Outcome after Surgery at a Tertiary Eye Hospital in Nepal |
| Q44912445 | A candidate gene for choanal atresia in alpaca |
| Q46987689 | A cluster of choanal atresia |
| Q50585154 | A developmental approach to sensory disabilities in early childhood. |
| Q91754990 | A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients |
| Q52654021 | A new expert consultation system in deaf-blind syndromes. |
| Q81539529 | A newborn with complete heart block and structural cardiac defects |
| Q47844332 | A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome. |
| Q39933166 | A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome |
| Q43626405 | A recognizable syndrome within CHARGE association: Hall-Hittner syndrome |
| Q57467839 | ALS and CHARGE syndrome: a clinical and genetic study |
| Q83104233 | Abnormal basiocciput development in CHARGE syndrome |
| Q50483978 | Aetiology of hearing loss and other related factors versus language outcome after cochlear implantation in children. |
| Q92332103 | An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry |
| Q55307797 | An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome. |
| Q42361530 | Anomalous Origin of the Left Common Carotid Artery from the Main Pulmonary Artery: A Rare Association in an Infant with CHARGE Syndrome |
| Q53746120 | Anophthalmos and first branchial arch defects. |
| Q55076940 | Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. |
| Q50304990 | Autism spectrum disorders and underlying brain pathology in CHARGE association |
| Q34123480 | Autism with ophthalmologic malformations: the plot thickens. |
| Q33596514 | Balanced t(6;8)(6p8p;6q8q) and the CHARGE association |
| Q78568852 | Bilateral congenital choanal atresia |
| Q33903396 | 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 |
| Q86556123 | CHARGE Association |
| Q42532037 | CHARGE Syndrome |
| Q89494047 | CHARGE Syndrome Associated with Angle Closure despite High Myopia: A Case Report with Structural Suggestion |
| Q50425734 | CHARGE and Kabuki syndromes: a phenotypic and molecular link |
| Q53811539 | CHARGE and esophageal atresia |
| Q52138601 | CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11). |
| Q41739886 | CHARGE association: an update and review for the primary pediatrician |
| Q21203036 | CHARGE syndrome |
| Q35762931 | CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon |
| Q39538273 | CHARGE syndrome with tetralogy of Fallot: report of a case |
| Q43744358 | CHARGE syndrome. Part I. External ear anomalies |
| Q50577416 | CHARGE syndrome. Part II. Hearing loss. |
| Q34404983 | CHARGE syndrome: a review |
| Q34463345 | CHARGE syndrome: a review of the immunological aspects |
| Q24297162 | CHARGE syndrome: an update |
| Q24309120 | CHARGE syndrome: report of 47 cases and review |
| Q24322458 | CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene |
| Q46054331 | CHARGEd with neural crest defects. |
| Q37406443 | CHD7 and retinoic acid signaling cooperate to regulate neural stem cell and inner ear development in mouse models of CHARGE syndrome |
| Q34023574 | CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome |
| Q34200505 | CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia |
| Q100635976 | CHD7 promotes neural progenitor differentiation in embryonic stem cells via altered chromatin accessibility and nascent gene expression |
| Q24311335 | CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome |
| Q41157667 | CHOANAL ARTRESIA. |
| Q50449946 | CT diagnosis of temporal bone anomalies and cochlear implant surgery in CHARGE association |
| Q38625619 | Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients. |
| Q52163355 | Charge association and infantile hypertrophic pyloric stenosis. |
| Q68461508 | Charge association vs. velo-cardio-facial syndrome |
| Q50436418 | Choanal atresia an institutional review |
| Q44557675 | Choanal atresia and associated anomalies: the CHARGE association |
| Q69642572 | Choanal atresia and deafness |
| Q70110825 | Choanal atresia and its associated anomalies. Further support for the CHARGE Association |
| Q43568403 | Choanal atresia in a cat. |
| Q39474973 | Choanal atresia: treatment trends in 47 patients over 33 years |
| Q44553922 | Choroid-retinal coloboma and unusual facial features in a 16-year-old girl |
| Q36436834 | Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders |
| Q26822979 | Chromodomain helicase DNA-binding proteins in stem cells and human developmental diseases |
| Q34315784 | Clinical diagnosis by whole-genome sequencing of a prenatal sample |
| Q88286386 | Clival Malformations in CHARGE Syndrome |
| Q30411460 | Cochlear Implants in Children Diagnosed with CHARGE Syndrome |
| Q46373545 | Cochlear implantation in children with "CHARGE syndrome": surgical options and outcomes |
| Q89414341 | Cochlear implantation in children with CHARGE syndrome: a report of eight cases |
| Q50429236 | Cochlear nerve deficiency in children with CHARGE syndrome |
| Q92709444 | Comprehensive analysis of syndromic hearing loss patients in Japan |
| Q69642562 | Computed tomography in the evaluation of choanal atresia |
| Q43147036 | Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins |
| Q52091463 | Congenital anomalies in patients with choanal atresia: CHARGE-association. |
| Q36852335 | Congenital diaphragmatic hernia in CHARGE syndrome |
| Q36390461 | Congenital hearing impairment |
| Q51669945 | Congenital heart disease in CHARGE association. |
| Q67580385 | Congenital nasal stenosis in newborn infants |
| Q46218427 | Congenital nystagmus: A clinical perspective in infancy |
| Q42128235 | Congenital right bochdalek hernia presenting as emergency in old age: a case report |
| Q33629222 | Conservative management of bilateral choanal atresia? Bilateral choanal atresia diagnosed in a 5-year-old girl |
| Q57998183 | Contribution of fetal MRI to the diagnosis of inner ear abnormalities: report of two cases |
| Q50463975 | Coronal clival cleft in CHARGE syndrome |
| Q37643279 | Crossed nonfused renal ectopia with variant blood vessels: a rare congenital renal anomaly |
| Q38239082 | Deafblindness: a review of the literature. |
| Q34162228 | Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions |
| Q33751230 | Deletion of the Chd6 exon 12 affects motor coordination |
| Q36959882 | Developmental abnormalities of the optic nerve and chiasm |
| Q60852037 | Developmental processes regulate craniofacial variation in disease and evolution |
| Q37358729 | Different CHD chromatin remodelers are required for expression of distinct gene sets and specific stages during development of Dictyostelium discoideum. |
| Q36848686 | Discoordinate pharyngolaryngomalacia |
| Q41671959 | Disorganization in mice and humans and its relation to sporadic birth defects |
| Q24300432 | Disruptive CHD8 mutations define a subtype of autism early in development |
| Q48248088 | Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome. |
| Q34361068 | Diverse functions for the semaphorin receptor PlexinD1 in development and disease. |
| Q48615123 | Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate |
| Q37965165 | Drug discovery toward antagonists of methyl-lysine binding proteins |
| Q35771993 | ENT management of a child with CHARGE association |
| Q36261756 | Early oral sensory experiences and feeding development in children with CHARGE syndrome: a report of five cases |
| Q41446190 | Emergency management of bilateral choanal atresia in the newborn by the endoscopic endonasal approach: a clinical record and review of literature |
| Q37733060 | Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome |
| Q72593224 | Endoscopic fenestration of choanal atresia |
| Q51111895 | Endoscopic transeptal surgery for choanal atresia with a stentless folded-over-flap technique. |
| Q33818427 | Endoscopic versus traditional approaches to choanal atresia |
| Q34463003 | Epigenetic Developmental Disorders: CHARGE syndrome, a case study |
| Q41811985 | Epistatic interactions between Chd7 and Fgf8 during cerebellar development: Implications for CHARGE syndrome. |
| Q37241839 | Esophageal atresia and tracheo-esophageal fistula associated with coarctation of the aorta, CHARGE association, and DiGeorge syndrome: a case report and literature review |
| Q52117160 | Exclusion of PITX2 mutations as a major cause of CHARGE association. |
| Q50313396 | Executive function in CHARGE syndrome |
| Q46811860 | Expert System in Deaf-Blind Syndromes |
| Q52167355 | Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome. |
| Q37760516 | Facial clefts and associated limb anomalies: description of three cases and a review of the literature. |
| Q28238410 | Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability |
| Q33679844 | Features of DiGeorge syndrome and CHARGE association in five patients |
| Q79917358 | Feeding difficulties in children with CHARGE syndrome: prevalence, risk factors, and prognosis |
| Q28512381 | Function of the retinoic acid receptors (RARs) during development: (I) Craniofacial and skeletal abnormalities in RAR double mutants |
| Q24313346 | Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations |
| Q47233062 | Genetic analysis of CHARGE syndrome identifies overlapping molecular biology |
| Q47867211 | Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up. |
| Q35064244 | Genetic diseases pediatrics |
| Q89595747 | Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes |
| Q37150865 | Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns |
| Q41910875 | Glidescope Video Laryngoscope Use for Tracheal Intubation in a Patient with CHARGE Syndrome |
| Q35262344 | Growth failure and pituitary function in CHARGE and VATER associations |
| Q90168932 | Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach |
| Q39433688 | Head and Neck MRI Findings in CHARGE Syndrome |
| Q48617798 | Hearing-impaired autistic children |
| Q61798282 | High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism |
| Q48218918 | High-resolution in utero 3D MR imaging of inner ear microstructures in fetal sheep. |
| Q44693328 | Hyper-IgM syndrome with CHARGE association |
| Q50591186 | Hypopituitarism and the CHARGE association. |
| Q36294690 | Identification of disease genes by whole genome CGH arrays |
| Q57752831 | Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study |
| Q36257777 | Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study |
| Q33723295 | Immune deficiency in CHARGE association |
| Q41300576 | Immunodeficiency as a component of recognizable syndromes |
| Q47827508 | Immunodeficiency in CHARGE syndrome. |
| Q24336900 | Immunological abnormalities in CHARGE syndrome |
| Q37217278 | Incidence and management of airway problems in the CHARGE Association |
| Q47555415 | Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report |
| Q33592393 | Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome |
| Q36053726 | Is urorectal septum malformation sequence a variant of the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association? Report of a case and a review of the literature |
| Q42117030 | Juvenile Muscular Atrophy of a Unilateral Upper Extremity (Hirayama Disease) in a Patient with CHARGE Syndrome |
| Q90512980 | Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms |
| Q38078017 | Kallmann syndrome in women: from genes to diagnosis and treatment |
| Q41628947 | Limb anomalies in the CHARGE association. |
| Q69716324 | Long-term results after surgical repair of incomplete endocardial cushion defects |
| Q74301528 | Malakoplakia of the colon in an infant with severe combined immunodeficiency (SCID) and charge association |
| Q40050653 | Maternal residential air pollution and placental imprinted gene expression |
| Q39677931 | Megarbane syndrome |
| Q71262336 | Microphthalmos associated with esophageal atresia |
| Q92088632 | Modified transcanal cochlear implantation in CHARGE syndrome: A case report |
| Q28260716 | Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions |
| Q24634411 | Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome |
| Q40509076 | Molecular genetic approaches to the study of human craniofacial dysmorphologies. |
| Q36693337 | Molecular pathogenesis of Kallmann's syndrome. |
| Q28587098 | Multiple mutations in mouse Chd7 provide models for CHARGE syndrome |
| Q34314263 | Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. |
| Q28263190 | Mutation update on the CHD7 gene involved in CHARGE syndrome |
| Q24300737 | Mutations in a new member of the chromodomain gene family cause CHARGE syndrome |
| Q34405763 | Mutations in the CHD7 gene: the experience of a commercial laboratory |
| Q28370487 | Neural crest-derived defects in experimental esophageal atresia |
| Q47564393 | New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries. |
| Q77537941 | New mental retardation syndrome associated with ocular colobomas, cleft palate, and genital, skeletal, and craniofacial abnormalities |
| Q28280378 | New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene |
| Q34091257 | Ocular colobomata |
| Q38198857 | Ocular findings in CHARGE syndrome. Six case reports and a review |
| Q34676800 | Oesophageal atresia and associated anomalies |
| Q51959361 | Olfactory anomalies in CHARGE syndrome: imaging findings of a potential major diagnostic criterion. |
| Q35628487 | Operation for gastro-oesophageal reflux associated with severe mental retardation |
| Q27304810 | Otitis media in a new mouse model for CHARGE syndrome with a deletion in the Chd7 gene |
| Q39474518 | Otologic management in children with the CHARGE association |
| Q49087432 | Otological manifestations of CHARGE association |
| Q50356452 | Outcomes of cochlear implantation in children with CHARGE syndrome |
| Q37158688 | Outcomes of long-term audiological rehabilitation in charge syndrome. |
| Q43101638 | Parenting Stress in CHARGE Syndrome and the Relationship with Child Characteristics. |
| Q37877427 | Pediatric sensorineural hearing loss, part 2: syndromic and acquired causes |
| Q38238157 | Perspectives in Pediatric Pathology, Chapter 14. Natural History of Undescended Testes |
| Q43845364 | Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome |
| Q30490992 | Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. |
| Q43449045 | Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome |
| Q50550682 | Prevalence and aetiology of congenitally deafblind people in Denmark. |
| Q85106505 | Prevalence of Genetic Testing in CHARGE Syndrome |
| Q38447374 | Psychomotor and cognitive impairments of children with CHARGE syndrome: common and variable features |
| Q64990526 | Quantitative brain morphological analysis in CHARGE syndrome. |
| Q38041622 | RDDR: a dysmorphology diagnostic network for newborns in central Italy. |
| Q41810719 | Radial aplasia and chromosome 22q11 deletion |
| Q38865589 | Radiologic and Audiologic Findings in the Temporal Bone of Patients with CHARGE Syndrome |
| Q41126905 | Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species |
| Q35447566 | Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome). |
| Q43753436 | Renal coloboma syndrome |
| Q37886657 | Renal coloboma syndrome. |
| Q47387884 | Reproductive endocrine phenotypes relating to CHD7 mutations in humans |
| Q38291699 | Rescue of neural crest-derived phenotypes in a zebrafish CHARGE model by Sox10 downregulation |
| Q71247652 | Retinal disorders of childhood |
| Q24678401 | Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants |
| Q37845429 | Role of rare cases in deciphering the mechanisms of congenital anomalies: CHARGE syndrome research |
| Q55461042 | Secondary glioblastoma multiform in a patient with CHARGE syndrome and prior radiation therapy for medulloblastoma. |
| Q39598678 | Selected eye defects of special importance in pediatrics |
| Q24540535 | Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation |
| Q68966264 | Spectrum of congenital heart disease in CHARGE association |
| Q41373833 | Spontaneous postnatal growth is reduced in children with CHARGE syndrome |
| Q34328503 | Study of smell and reproductive organs in a mouse model for CHARGE syndrome. |
| Q48396530 | Successful airway management with use of a laryngeal mask airway in a patient with CHARGE syndrome. |
| Q24234377 | Surgery for choanal atresia |
| Q24203683 | Surgery for congenital choanal atresia |
| Q39793700 | Surgery of choanal atresia in infants and children: historical notes and updated review |
| Q30441181 | Symmetrical Chorioretinal Colobomata with Craniovertebral Junction Anomalies in CHARGE Syndrome - A Case Report with Review of Literature |
| Q35621987 | Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities |
| Q99404861 | T-Cell Immunodeficiencies With Congenital Alterations of Thymic Development: Genes Implicated and Differential Immunological and Clinical Features |
| Q50503064 | Temporal bone CT findings in the CHARGE association. |
| Q24675763 | Temporal bone computed tomography findings in bilateral sensorineural hearing loss |
| Q51956826 | Temporal bone histopathology in CHARGE association. |
| Q46818523 | The Approach to an Expert Consultation System in Deaf-Blind Syndromes |
| Q41665866 | The CHARGE association and athyreosis |
| Q34056999 | The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes |
| Q48394674 | The challenge of upper airway obstruction in pediatric intensive care |
| Q33969998 | The co-existence of CHARGE and myelodysplastic syndrome in a child |
| Q42965110 | The electroretinogram |
| Q51546966 | The endoscopic transseptal approach for choanal atresia repair. |
| Q33648152 | The eye in the CHARGE association |
| Q91782878 | The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration |
| Q24517962 | The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies |
| Q26827974 | The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome |
| Q34649133 | The role of genetics in the establishment and maintenance of the epigenome. |
| Q32060962 | Three malformation complexes related to neural crest development |
| Q21558669 | Thymus Transplantation |
| Q37109357 | Thymus transplantation in complete DiGeorge anomaly |
| Q84977732 | Tissue‐limited mosaicism for monosomy 13 |
| Q42325883 | Tracheoesophageal fistula with esophageal atresia with absent external ear: a unusual association |
| Q41499021 | Transnasal endoscopic management of choanal atresia |
| Q41149431 | UNILATERAL CHOANAL ATRESIA: A Case Report |
| Q82829421 | Unilateral agenesis of the internal carotid artery in CHARGE syndrome |
| Q67766707 | Unilateral choanal atresia |
| Q43807372 | Unilateral rhinorrhea and nasal obstruction in an adult. |
| Q35550537 | Unique phenotype in a patient with CHARGE syndrome |
| Q38437571 | Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes |
| Q37165341 | Update on the morning glory disc anomaly |
| Q43816676 | Use of an expert model to test diagnostic criteria in CHARGE syndrome |
| Q73254754 | Using birth defects epidemiology to take CHARGE. Coloboma, Heart defect, choanal Atresia, Retardation, Genital, Ear anomaly |
| Q52223065 | Variable phenotypes in velocardiofacial syndrome with chromosomal deletion. |
| Q36113695 | Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss |
| Q42369167 | Versatile Roles of the Chromatin Remodeler CHD7 during Brain Development and Disease. |
| Q50510681 | Vestibular abnormalities in charge association. |
| Q50509619 | Vestibular areflexia as a cause of delayed motor skill development in children with the CHARGE association. |
| Q40486899 | Visual function in Children with Developmental Disabilities |
| Q50491083 | What syndrome is this? CHIME syndrome. |
| Q92486343 | What's retinoic acid got to do with it? Retinoic acid regulation of the neural crest in craniofacial and ocular development |
| Q38840545 | When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome |
| Q35626502 | White sponge naevus and ocular coloboma |
| Q35625004 | Who's in CHARGE? Multidisciplinary management of patients with CHARGE association |
| Q36282251 | Williams Syndrome Transcription Factor is critical for neural crest cell function in Xenopus laevis |
| Q47396418 | X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations. |