| scholarly article | Q13442814 |
| P2093 | author name string | Paula Grigorescu-Sido | |
| Simona Bucerzan | |||
| Cecilia Lazea | |||
| Carmen Asavoaie | |||
| Andrea Kulcsar | |||
| Diana Miclea | |||
| P2860 | cites work | Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome | Q43091832 |
| Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders | Q47547338 | ||
| A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion | Q50444259 | ||
| Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. | Q50602799 | ||
| KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria | Q51907902 | ||
| The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype | Q51937294 | ||
| Clinical and genetic aspects of KBG syndrome. | Q53861877 | ||
| KBG syndrome. | Q55284091 | ||
| Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome | Q56700374 | ||
| UniProt: a worldwide hub of protein knowledge | Q58611634 | ||
| Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome | Q62937758 | ||
| RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature | Q90827677 | ||
| Novel Mutations and Unreported Clinical Features in KBG Syndrome | Q92698671 | ||
| Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia | Q24316230 | ||
| A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3 | Q24539096 | ||
| Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators | Q28265665 | ||
| An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant Yoda | Q28588584 | ||
| Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. | Q33387075 | ||
| Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases | Q33441135 | ||
| The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies | Q33960880 | ||
| A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome | Q34116657 | ||
| Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome | Q35248496 | ||
| Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations | Q35959667 | ||
| Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis | Q37044367 | ||
| ANKRD11 gene deletion in a 17-year-old male | Q37616719 | ||
| Ankrd11 is a chromatin regulator involved in autism that is essential for neural development | Q38301892 | ||
| Updated Clinical Guidelines for Diagnosing Fetal Alcohol Spectrum Disorders. | Q38910289 | ||
| Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome | Q38938740 | ||
| Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms | Q43058062 | ||
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P921 | main subject | intellectual disability | Q183560 |
| disability affecting intellectual abilities | Q3317827 | ||
| P304 | page(s) | 390 | |
| P577 | publication date | 2020-07-15 | |
| P1433 | published in | Frontiers in pediatrics | Q27725038 |
| P1476 | title | 16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature | |
| P478 | volume | 8 |
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