Related references
Note: Only part of the references are listed.Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review
Ciara Hanly et al.
CLINICAL GENETICS (2021)
Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review
Rosaria Nardello et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2021)
ANKRD11 variants: KBG syndrome and beyond
Ilaria Parenti et al.
CLINICAL GENETICS (2021)
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders
Francisco Martinez-Granero et al.
NPJ GENOMIC MEDICINE (2021)
Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3
Anna Kutkowska-Kazmierczak et al.
GENES (2021)
DYSMORPHIC features and adult short stature: possible clinical markers of KBG syndrome
Davide Mattei et al.
ITALIAN JOURNAL OF PEDIATRICS (2021)
KBG syndrome: Common and uncommon clinical features based on 31 new patients
Maria Gnazzo et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2020)
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease
Miriam S. Reuter et al.
GENETICS IN MEDICINE (2020)
KBG syndrome in two patients from Egypt
Inas S. M. Sayed et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2020)
Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome
Francesco Cucco et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2020)
PET/MRI Radiomics in Patients With Brain Metastases
Philipp Lohmann et al.
FRONTIERS IN NEUROLOGY (2020)
Heavy Metal Stress-Associated Proteins in Rice and Arabidopsis: Genome-Wide Identification, Phylogenetics, Duplication, and Expression Profiles Analysis
Jiaming Li et al.
FRONTIERS IN GENETICS (2020)
A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features
Orazio Palumbo et al.
GENES (2020)
16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature
Simona Bucerzan et al.
FRONTIERS IN PEDIATRICS (2020)
Exploring the behavioral and cognitive phenotype of KBG syndrome
Linde C. M. van Dongen et al.
GENES BRAIN AND BEHAVIOR (2019)
KBG syndrome presenting with brachydactyly type E
Renata Libianto et al.
BONE (2019)
Copy number variation is highly correlated with differential gene expression: a pan-cancer study
Xin Shao et al.
BMC MEDICAL GENETICS (2019)
Novel Mutations and Unreported Clinical Features in KBG Syndrome
Emanuela Scarano et al.
MOLECULAR SYNDROMOLOGY (2019)
KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer predisposition?
Astrid Behnert et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
ANKRD11 associated with intellectual disability and autism regulates dendrite differentiation via the BDNF/TrkB signaling pathway
Minhan Ka et al.
NEUROBIOLOGY OF DISEASE (2018)
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11
Margherita Lucia De Bernardi et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases
Francesca Novara et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature
Pier Marco Bianchi et al.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2017)
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome
Satoko Miyatake et al.
JOURNAL OF HUMAN GENETICS (2017)
Prevalence and architecture of de novo mutations in developmental disorders
Jeremy F. McRae et al.
NATURE (2017)
Ethical imperatives of timely access to orphan drugs: is possible to reconcile economic incentives and patients' health needs?
R. Rodriguez-Monguio et al.
ORPHANET JOURNAL OF RARE DISEASES (2017)
A splice-site variant in ANKRD11 associated with classical KBG syndrome
Karen J. Low et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
KBG syndrome: An Australian experience
Natalia Murray et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
KBG syndrome: 16q24.3 microdeletion in an Indian patient
Priyanka Srivastava et al.
CLINICAL DYSMORPHOLOGY (2017)
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype
I. Parenti et al.
CLINICAL GENETICS (2016)
Clinical and Genetic Aspects of KBG Syndrome
Karen Low et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
Clinical and Molecular Findings in 39 Patients with KBG Syndrome Caused by Deletion or Mutation of ANKRD11
Alice Goldenberg et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
KBG syndrome involving a single-nucleotide duplication in ANKRD11
Robert Kleyner et al.
COLD SPRING HARBOR MOLECULAR CASE STUDIES (2016)
Ankrd11 Is a Chromatin Regulator Involved in Autism that Is Essential for Neural Development
Denis Gallagher et al.
DEVELOPMENTAL CELL (2015)
A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion
Hyo Jeong Kim et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2015)
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
Charlotte W. Ockeloen et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome
Katherina Walz et al.
HUMAN GENETICS (2015)
A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome
Ji-Hun Lim et al.
ANNALS OF LABORATORY MEDICINE (2014)
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome
Mohamed Khalifa et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
A De Novo Deletion at 16q24.3 Involving ANKRD11 in a Japanese Patient With KBG Syndrome
Satoko Miyatake et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome
S. Spengler et al.
MOLECULAR SYNDROMOLOGY (2013)
Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome
Stephanie Sacharow et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms
Mala Isrie et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia
Asli Sirmaci et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
ANKRD11 gene deletion in a 17-year-old male
Erin L. Youngs et al.
CLINICAL DYSMORPHOLOGY (2011)
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome
Marjolein H. Willemsen et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
Characterization of transcriptional regulatory domains of ankyrin repeat cofactor-1
Aihua Zhang et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2007)
KBG syndrome: Report of twins, neurological characteristics, and delineation of diagnostic criteria
K. L. Skjei et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)