If not Angelman, what is it? a review of Angelman-like syndromes

Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype

(2013) Duccio Maria Cordelli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

RASA1Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

(2013) Nicole Revencu et al.   HUMAN MUTATION

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

(2013) Alex R. Paciorkowski et al.   NEUROGENETICS

Neurologic Manifestations of Angelman Syndrome

(2013) Ronald L. Thibert et al.   PEDIATRIC NEUROLOGY

 -Thalassemia, Mental Retardation, and Myelodysplastic Syndrome

(2013) R. J. Gibbons   Cold Spring Harbor Perspectives in Medicine

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

(2013) Latha Soorya et al.   Molecular Autism

Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome

(2012) Giuseppe Marangi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The behavioral phenotype of Mowat-Wilson syndrome

(2012) Elizabeth Evans et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome

(2012) Jos I.M. Egger et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion

(2012) Kimberly A. Aldinger et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

NovelSLC9A6mutations in two families with Christianson syndrome

(2012) A Riess et al.   CLINICAL GENETICS

Development, cognition, and behaviour in Pitt-Hopkins syndrome

(2012) INGRID D C VAN BALKOM et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Epilepsy in Rett syndrome, andCDKL5- andFOXG1-gene-related encephalopathies

(2012) Renzo Guerrini et al.   EPILEPSIA

Electroclinical pattern in MECP2 duplication syndrome: Eight new reported cases and review of literature

(2012) Aglaia Vignoli et al.   EPILEPSIA

Analysis of EEG patterns and genotypes in patients with Angelman syndrome

(2012) Martina Vendrame et al.   EPILEPSY & BEHAVIOR

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

(2012) Stephanie Fehr et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

(2012) E.K. Bijlsma et al.   European Journal of Medical Genetics

A homozygous missense mutation inHERC2associated with global developmental delay and autism spectrum disorder

(2012) Erik G. Puffenberger et al.   HUMAN MUTATION

Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency

(2012) Maria Zulfiqar et al.   JOURNAL OF MAGNETIC RESONANCE IMAGING

Mutation of HERC2 causes developmental delay with Angelman-like features

(2012) Gaurav V Harlalka et al.   JOURNAL OF MEDICAL GENETICS

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

(2012) Marcella Zollino et al.   NATURE GENETICS

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

(2012) David A Koolen et al.   NATURE GENETICS

Refining the phenotype associated with MEF2C point mutations

(2012) Thierry Bienvenu et al.   NEUROGENETICS

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

(2011) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome

(2011) Daphne Lehalle et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Na+/H+ exchanger isoform 6 (NHE6/SLC9A6) is involved in clathrin-dependent endocytosis of transferrin

(2011) Lou Xinhan et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations

(2011) Mathieu Milh et al.   EPILEPSIA

Novel features in the evolution of adenylosuccinate lyase deficiency

(2011) Belén Pérez-Dueñas et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature

(2011) Agnieszka Jurecka et al.   EUROPEAN JOURNAL OF PEDIATRICS

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

(2011) Sandra Whalen et al.   HUMAN MUTATION

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

(2011) F. Kortum et al.   JOURNAL OF MEDICAL GENETICS

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)

(2011) S. M. Sarasua et al.   JOURNAL OF MEDICAL GENETICS

Relationship between aberrant brain connectivity and clinical features in Angelman Syndrome: A new method using tract based spatial statistics of DTI color-coded orientation maps

(2011) Vijay N. Tiwari et al.   NEUROIMAGE

22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH

(2010) S.U. Dhar et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Angelman syndrome: Mutations influence features in early childhood

(2010) Wen-Hann Tan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Natural history of Christianson syndrome

(2010) Richard J. Schroer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

TheMECP2duplication syndrome

(2010) Melissa B. Ramocki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rett syndrome: Revised diagnostic criteria and nomenclature

(2010) Jeffrey L. Neul et al.   ANNALS OF NEUROLOGY

Organellar Na+/H+Exchangers: Novel Players in Organelle pH Regulation and Their Emerging Functions

(2010) Ryuichi Ohgaki et al.   BIOCHEMISTRY

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

(2010) Simon C Ramsden et al.   BMC Medical Genetics

A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition

(2010) James Y. Garbern et al.   BRAIN

Cutaneous features in 17q21.31 deletion syndrome

(2010) Emma Burkitt Wright et al.   CLINICAL DYSMORPHOLOGY

‘Puppet’ Children A Report on Three Cases

(2010) Harry Angelman   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Alterations in white matter pathways in Angelman syndrome

(2010) SARIKA U PETERS et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

(2010) Christèle Dubourg et al.   European Journal of Medical Genetics

Clinical and genetic aspects of Angelman syndrome

(2010) Charles A Williams et al.   GENETICS IN MEDICINE

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

(2010) Markus Zweier et al.   HUMAN MUTATION

Behavioral and Cerebellar Transmission Deficits in Mice Lacking the Autism-Linked Gene Islet Brain-2

(2010) J. Giza et al.   JOURNAL OF NEUROSCIENCE

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

(2010) L. Deprez et al.   NEUROLOGY

Adenylosuccinate Lyase Deficiency in the United Kingdom Pediatric Population: First Three Cases

(2010) Claire T. Lundy et al.   PEDIATRIC NEUROLOGY

Mowat-Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature

(2009) L. Garavelli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Epilepsy in Angelman syndrome: A questionnaire-based assessment of the natural history and current treatment options

(2009) Ronald L. Thibert et al.   EPILEPSIA

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

(2009) Bregje WM van Bon et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment and seizures

(2009) Stephen R Williams et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutational, functional, and expression studies of theTCF4gene in Pitt-Hopkins syndrome

(2009) Lo��c de Pontual et al.   HUMAN MUTATION

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

(2009) T Kleefstra et al.   JOURNAL OF MEDICAL GENETICS

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

(2008) Gregor D. Gilfillan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TCF4Deletions in Pitt-Hopkins Syndrome

(2008) Irina Giurgea et al.   HUMAN MUTATION

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

(2008) S Jaillard et al.   JOURNAL OF MEDICAL GENETICS