Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

(2018) Gabrielle Olley et al.   NATURE GENETICS

Self-injurious behavior

(2018) Sylvia Huisman et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Heterozygous truncation mutations of theSMC1Agene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

(2017) Joseph D. Symonds et al.   EPILEPSIA

Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance

(2017) Donna Reid et al.   Journal of Neurodevelopmental Disorders

European Society for Paediatric Gastroenterology, Hepatology and Nutrition Guidelines for the Evaluation and Treatment of Gastrointestinal and Nutritional Complications in Children With Neurological Impairment

(2017) Claudio Romano et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Nipbl Interacts with Zfp609 and the Integrator Complex to Regulate Cortical Neuron Migration

(2017) Debbie L.C. van den Berg et al.   NEURON

Improving hospital care of patients with intellectual and developmental disabilities

(2017) Sarah H. Ailey et al.   Disability and Health Journal

Successful Growth Hormone Therapy in Cornelia de Lange Syndrome

(2017) Michael de Graaf et al.   Journal of Clinical Research in Pediatric Endocrinology

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

(2016) Patricia Fergelot et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses

(2016) Kathleen January et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Attitudes about the use of internet support groups and the impact among parents of children with Cornelia de Lange syndrome

(2016) Cara N. Cacioppo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Characterization of limb differences in children with Cornelia de Lange Syndrome

(2016) Devanshi Mehta et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome

(2016) Anna Cereda et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients

(2016) Milena Mariani et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment

(2016) Tamanna R. Roshan Lal et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series

(2016) Alessandra Moretto et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Sleep disorders in Cornelia de Lange syndrome

(2016) Elena Zambrelli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

A novelRAD21variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature

(2016) M.I. Boyle et al.   CLINICAL GENETICS

De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum

(2016) S. Jansen et al.   CLINICAL GENETICS

A series of 38 novel germline and somatic mutations ofNIPBLin Cornelia de Lange syndrome

(2016) M. Nizon et al.   CLINICAL GENETICS

Expanding the clinical spectrum of the ‘HDAC8-phenotype’ - implications for molecular diagnostics, counseling and risk prediction

(2016) I. Parenti et al.   CLINICAL GENETICS

Gene regulation and chromatin organization: relevance of cohesin mutations to human disease

(2016) Erwan Watrin et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Toe walking

(2016) Joseph J. Ruzbarsky et al.   CURRENT OPINION IN PEDIATRICS

Behaviour in Cornelia de Lange syndrome: a systematic review

(2016) Paul A Mulder et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency

(2016) Chloé Saunier et al.   HUMAN MUTATION

Improvement in hearing loss over time in Cornelia de Lange syndrome

(2016) Kevin C. Janek et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?

(2015) Valeria Cavalleri et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Contrasting age related changes in autism spectrum disorder phenomenology in Cornelia de Lange, Fragile X, and Cri du Chat syndromes: Results from a 2.5 year follow-up

(2015) Lisa Cochran et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype

(2015) I. Parenti et al.   CLINICAL GENETICS

Building treasures for rare disorders

(2015) Melanie Baas et al.   European Journal of Medical Genetics

Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction

(2015) Elena Bonora et al.   GASTROENTEROLOGY

De NovoHeterozygous Mutations inSMC3Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

(2015) María Concepción Gil-Rodríguez et al.   HUMAN MUTATION

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

(2015) Bo Yuan et al.   JOURNAL OF CLINICAL INVESTIGATION

Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome

(2015) Hayley Crawford et al.   Journal of Neurodevelopmental Disorders

Sigmoid Volvulus: An Underestimated Cause of Intestinal Obstruction in Cornelia de Lange Syndrome

(2015) Pauline Clermidi et al.   JOURNAL OF PEDIATRICS

Severe complication of catatonia in a young patient with Hashimoto's encephalopathy comorbid with Cornelia de Lange syndrome

(2015) Yen-Wen Chen et al.   KAOHSIUNG JOURNAL OF MEDICAL SCIENCES

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

(2015) Kosuke Izumi et al.   NATURE GENETICS

Clinical Practice Guideline (Update): Adult Sinusitis

(2015) Richard M. Rosenfeld et al.   OTOLARYNGOLOGY-HEAD AND NECK SURGERY

Neuroimaging features of Cornelia de Lange syndrome

(2015) Matthew T. Whitehead et al.   PEDIATRIC RADIOLOGY

Autism traits in children and adolescents with Cornelia de Lange syndrome

(2014) Siddharth Srivastava et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cervical spine malformation in cornelia de lange syndrome: A report of three patients

(2014) Laura Rachele Bettini et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): Preliminary results

(2014) Paola Francesca Ajmone et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Phenotype and genotype in Nicolaides-Baraitser syndrome

(2014) Sérgio B. Sousa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Epileptic features in Cornelia de Lange syndrome: Case report and literature review

(2014) Elena Pavlidis et al.   BRAIN & DEVELOPMENT

Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation

(2014) Carolina Baquero-Montoya et al.   European Journal of Medical Genetics

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

(2014) Frank J. Kaiser et al.   HUMAN MOLECULAR GENETICS

Otolaryngological presentations of Cornelia de Lange syndrome

(2014) Jane Hamilton et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Audiological findings, genotype and clinical severity score in Cornelia de Lange syndrome

(2014) Paola Marchisio et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome

(2014) Lei Feng et al.   JOURNAL OF HUMAN GENETICS

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

(2014) Morad Ansari et al.   JOURNAL OF MEDICAL GENETICS

Menstrual and Reproductive Issues in Adolescents With Physical and Developmental Disabilities

(2014) Elisabeth H. Quint   OBSTETRICS AND GYNECOLOGY

Clinical Consensus Statement

(2014) Scott E. Brietzke et al.   OTOLARYNGOLOGY-HEAD AND NECK SURGERY

Unpredictable drug reaction in a child with Cornelia de Lange syndrome

(2014) Marija Stevic et al.   International Journal of Clinical Pharmacy

Exome sequencing identifies a novelEP300frame shift mutation in a patient with features that overlap cornelia de lange syndrome

(2013) Susan A. Woods et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Super-Enhancers in the Control of Cell Identity and Disease

(2013) Denes Hnisz et al.   CELL

British Society of Gastroenterology guidelines on the diagnosis and management of Barrett's oesophagus

(2013) Rebecca C Fitzgerald et al.   GUT

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

(2013) Gijs W.E. Santen et al.   HUMAN MUTATION

High rate of mosaicism in individuals with Cornelia de Lange syndrome

(2013) Sylvia A Huisman et al.   JOURNAL OF MEDICAL GENETICS

Immunologic Features of Cornelia de Lange Syndrome

(2013) S. Jyonouchi et al.   PEDIATRICS

Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally

(2013) M. A. Dempsey et al.   PRENATAL DIAGNOSIS

Epilepsy in patients with Cornelia de Lange syndrome: A clinical series

(2013) Alberto Verrotti et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

RAD21 Mutations Cause a Human Cohesinopathy

(2012) Matthew A. Deardorff et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies

(2012) Dinah M. Clark et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome

(2012) Mariko Nakanishi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A new report of Cornelia de Lange syndrome associated with split hand and feet

(2012) Chiara Barboni et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Germline mosaicism in Cornelia de Lange syndrome

(2012) Thomas P. Slavin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

(2012) Silvia Russo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Insomnia in Cornelia de Lange Syndrome

(2012) Roy Rajan et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Characteristics of autism spectrum disorder in Cornelia de Lange syndrome

(2012) Jo Moss et al.   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

X-exome sequencing identifies aHDAC8variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

(2012) Magdalena Harakalova et al.   JOURNAL OF MEDICAL GENETICS

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

(2012) Matthew A. Deardorff et al.   NATURE

Long-term maintenance treatment with omeprazole in children with healed erosive oesophagitis: a prospective study

(2011) E. Hassall et al.   ALIMENTARY PHARMACOLOGY & THERAPEUTICS

Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature

(2011) Samantha A. Schrier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cornelia de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism ofNIPBLgene mutation

(2011) Jan Weichert et al.   Journal of Maternal-Fetal & Neonatal Medicine

Restricted and repetitive behaviors in autism spectrum disorders: A review of research in the last decade.

(2011) Susan R. Leekam et al.   PSYCHOLOGICAL BULLETIN

Barrett’s esophagus and Cornelia de Lange Syndrome

(2010) Francesco Macchini et al.   ACTA PAEDIATRICA

The incidence of thrombocytopenia in children with Cornelia de Lange syndrome

(2010) Michele P. Lambert et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cornelia de Lange syndrome: Extending the physical and psychological phenotype

(2010) Chris Oliver et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Sensory processing and stereotypical and repetitive behaviour in children with autism and intellectual disability

(2010) Annette V. Joosten et al.   Australian Occupational Therapy Journal

Cornelia de Lange Syndrome: A Case Report of a Brazilian Boy

(2010) Ana C. Scarpelli et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

Cornelia de Lange syndrome associated with thoracic meningocele

(2010) Mehmet Mutlu et al.   CLINICAL DYSMORPHOLOGY

The de Lange syndrome. Report of 15 cases

(2010) Giorgio Filippi   CLINICAL GENETICS

Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation

(2010) Shinichi Hosokawa et al.   CONGENITAL ANOMALIES

A Study of Six Cases of de Lange Amsterdam Dwarf Syndrome, with Special Attention to Voice, Speech and Language Characteristics

(2010) William I. Fraser et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL

(2010) Magdalena Ratajska et al.   European Journal of Medical Genetics

Characterization of sleep disturbance in Cornelia de Lange Syndrome

(2010) Rose C. Stavinoha et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Disability Perspectives on Health Care Planning and Decision-Making

(2010) Gary L. Stein et al.   JOURNAL OF PALLIATIVE MEDICINE

Mediator and cohesin connect gene expression and chromatin architecture

(2010) Michael H. Kagey et al.   NATURE

Randomized Comparison of Augmented and Nonaugmented Language Interventions for Toddlers With Developmental Delays and Their Parents

(2010) MaryAnn Romski et al.   JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH

Randomized, Single-Blind, Controlled Trial of a Specialist Behavior Therapy Team for Challenging Behavior in Adults With Intellectual Disabilities

(2009) Angela Hassiotis et al.   AMERICAN JOURNAL OF PSYCHIATRY

Lack of Efficacy of Citalopram in Children With Autism Spectrum Disorders and High Levels of Repetitive Behavior

(2009) Bryan H. King et al.   ARCHIVES OF GENERAL PSYCHIATRY

Motor stereotypies in children with autism and other developmental disorders

(2009) SYLVIE GOLDMAN et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Letters to the Editor

(2009)   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

Dental Findings in Cornelia De Lange Syndrome

(2009) Aslihan Soyal Toker et al.   YONSEI MEDICAL JOURNAL

Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome

(2008) Paola Marchisio et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A