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Ana I. Alvarez Retuerto et al.
HUMAN MOLECULAR GENETICS (2008)
Autism and metabolic diseases
Barbara Manzi et al.
JOURNAL OF CHILD NEUROLOGY (2008)
Deletion 2q37: An identifiable clinical syndrome with mental retardation and autism
Cinzia Galasso et al.
JOURNAL OF CHILD NEUROLOGY (2008)
Characterization of autism in young children with tuberous sclerosis complex
Shafali S. Jeste et al.
JOURNAL OF CHILD NEUROLOGY (2008)
Neuropsychiatric disorders in males with Duchenne muscular dystrophy: Frequency rate of attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder, and obsessive-compulsive disorder
Joseph G. M. Hendriksen et al.
JOURNAL OF CHILD NEUROLOGY (2008)
A case report of monozygotic twins with Smith-Magenis syndrome
Matthew Hicks et al.
JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS (2008)
Prader-Willi phenotype caused by paternal deficiency for the HBII-85C/D box small nucleolar RNA cluster
Trilochan Sahoo et al.
NATURE GENETICS (2008)
Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis
Dan Ehninger et al.
NATURE MEDICINE (2008)
Advances in autism genetics: on the threshold of a new neurobiology
Brett S. Abrahams et al.
NATURE REVIEWS GENETICS (2008)
Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis
John J. Bissler et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Danon disease:: An unusual presentation of autism
Prinyarat Burusnukul et al.
PEDIATRIC NEUROLOGY (2008)
Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood
Anne Philippe et al.
PEDIATRICS (2008)
Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome
Sergey V. Voronov et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Leber congenital amaurosis: Genes, proteins and disease mechanisms
Anneke I. den Hollander et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2008)
Autism: The role of cholesterol in treatment
Alka Aneja et al.
INTERNATIONAL REVIEW OF PSYCHIATRY (2008)
Diagnostic stability in very young children with autism spectrum disorders
Jamie M. Kleinman et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2008)
Cognitive and psychological profile of males with Becker muscular dystrophy
Helen K. Young et al.
JOURNAL OF CHILD NEUROLOGY (2008)
Is the prevalence of Klinefelter syndrome increasing?
Joan K. Morris et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
Defining the social phenotype in Williams syndrome:: A model for linking gene, the brain, and behavior
Anna Jarvinen-Pasley et al.
DEVELOPMENT AND PSYCHOPATHOLOGY (2008)
Autism Profiles of Males With Fragile X Syndrome
Susan W. Harris et al.
AMERICAN JOURNAL ON MENTAL RETARDATION (2008)
Social behavior and autism traits in a sex chromosomal disorder: Klinefelter (47XXY) syndrome
Sophie van Rijn et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2008)
X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits
L. Kent et al.
JOURNAL OF MEDICAL GENETICS (2008)
Case report: Autistic disorder in Kabuki syndrome
Burcu Akin Sari et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2008)
Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes
Dag H. Yasui et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Contribution of SHANK3 mutations to autism spectrum disorder
Rainald Moessner et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Comparing phenotypes in patients with idiopathic autism to patients with velocardiofacial syndrome (22q11 DS) with and without autism
Wendy R. Kates et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
22q13.3 deletion syndrome: A recognizable malformation syndrome associated with marked speech and language delay
Kristina Cusmano-Ozog et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2007)
Chromosome 2q37 deletion: Clinical and molecular aspects
Rena E. Falk et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2007)
Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly
Joseph D. Buxbaum et al.
BMC MEDICAL GENETICS (2007)
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome
Pascale Saugier-Veber et al.
HUMAN MUTATION (2007)
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease
Ute Hehr et al.
NEUROGENETICS (2007)
Social approach and autistic behavior in children with fragile X syndrome
Jane E. Roberts et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2007)
Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion)
Kevin M. Antshel et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2007)
Clinical characterization of the HOXA1 syndrome BSAS variant
T. M. Bosley et al.
NEUROLOGY (2007)
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
Patrick S. Tarpey et al.
NATURE GENETICS (2007)
Autism with facial port-wine stain:: A new syndrome?
Harry T. Chugani et al.
PEDIATRIC NEUROLOGY (2007)
Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients
Giovanni Battista Ferrero et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2007)
Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes
Maria Teresa Bonati et al.
NEUROGENETICS (2007)
Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes
Weimin Bi et al.
HUMAN MOLECULAR GENETICS (2007)
Rethinking the nature of genetic vulnerability to autistic spectrum disorders
David H. Skuse
TRENDS IN GENETICS (2007)
Prevalence of pervasive developmental disorder in Down's syndrome
Rosane Lowenthal et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2007)
The tuberous sclerosis complex proteins - a GRIPP on cognition and neurodevelopment
Petrus J. de Vries et al.
TRENDS IN MOLECULAR MEDICINE (2007)
The original Lujan syndrome family has a novel missense mutation (p. N1007S) in the MED12 gene
Charles E. Schwartz et al.
JOURNAL OF MEDICAL GENETICS (2007)
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region
Jonathan S. Berg et al.
GENETICS IN MEDICINE (2007)
Leber's congenital amaurosis:: is there an autistic component?
E. Fazzi et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2007)
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly
Joseph D. Buxbaum et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2007)
Genomic imprinting and the expression of affect in Angelman syndrome: what's in the smile?
Chris Oliver et al.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY (2007)
Strong association of de novo copy number mutations with autism
Jonathan Sebat et al.
SCIENCE (2007)
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype
Lorraine Potocki et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome
J. M. van Hagen et al.
NEUROBIOLOGY OF DISEASE (2007)
Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1
E. Rajcan-Separovic et al.
JOURNAL OF MEDICAL GENETICS (2007)
Autism spectrum disorder and underlying brain mechanism in the oculoauriculovertebral spectrum
Maria Johansson et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2007)
Autism spectrum phenotype in males and females with fragile x full mutation and premutation
Sally Clifford et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2007)
Increasing knowledge of PTEN germline mutations:: Two additional patients with autism and macrocephaly
Gail E. Herman et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders
Amber Hogart et al.
HUMAN MOLECULAR GENETICS (2007)
Social interaction behaviors discriminate young children with autism and Williams syndrome
Alan J. Lincoln et al.
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY (2007)
GABA(A) receptor alpha5 subunit as a candidate gene for autism and bipolar disorder - A proposed endophenotype with parent-of-origin and gain-of-function features, with or without oculocutaneous albinism
Robert Delong
AUTISM (2007)
Autism spectrum disorders: developmental disconnection syndromes
Daniel H. Geschwind et al.
CURRENT OPINION IN NEUROBIOLOGY (2007)
The psychopathologies of children and adolescents with tuberous sclerosis complex (TSC) - A postal survey of UK families
Petrus J. de Vries et al.
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY (2007)
Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-Segment elevation, short QT intervals, and sudden cardiac death
Charles Antzelevitch et al.
CIRCULATION (2007)
Ts65Dn, a mouse model of Down syndrome, exhibits increased GABAB-induced potassium current
Tyler K. Best et al.
JOURNAL OF NEUROPHYSIOLOGY (2007)
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
Christelle M. Durand et al.
NATURE GENETICS (2007)
Autistic disorder and 22q11.2 duplication
Nahit Motavalli Mukaddes et al.
WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY (2007)
The genetics of autistic disorders and its clinical relevance: a review of the literature
C. M. Freitag
MOLECULAR PSYCHIATRY (2007)
Childhood autism and associated comorbidities
Dimitrios I. Zafeiriou et al.
BRAIN & DEVELOPMENT (2007)
The behavioural phenotype of Cornelia de Lange Syndrome: a study of 56 individuals
E. Basile et al.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH (2007)
Psychopathology in the Lujan-Fryns syndrome:: Report of two patients and review
Ivan Lerma-Carrillo et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Model syndromes for investigating social cognitive and affective neuroscience: a comparison of autism and Williams syndrome
Helen Tager-Flusberg et al.
SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE (2006)
Autism-lessons from the X chromosome
Elysa J. Marco et al.
SOCIAL COGNITIVE AND AFFECTIVE NEUROSCIENCE (2006)
A genetic variant that disrupts MET transcription is associated with autism
Daniel B. Campbell et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Phenotypic and genetic overlap between autistic traits at the extremes of the general population
Angelica Ronald et al.
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY (2006)
The tuberous sclerosis complex
Peter B. Crino et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation
Loredana Boccone et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
CHARGE syndrome
Kim D. Blake et al.
ORPHANET JOURNAL OF RARE DISEASES (2006)
Abnormalities of cholesterol metabolism in autism spectrum disorders
Elaine Tierney et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2006)
The 22q11.2 deletion in children: High rate of autistic disorders and early onset of psychotic symptoms
Jacob A. S. Vorstman et al.
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY (2006)
ETR-3 represses tau exons 2/3 inclusion, a splicing event abnormally enhanced in myotonic dystrophy type I
Olivier Leroy et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2006)
Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP
Deborah D. Hatton et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients
H. L. Archer et al.
JOURNAL OF MEDICAL GENETICS (2006)
CACNA1H mutations in autism spectrum disorders
Igor Splawski et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Neuropsychiatric findings of Mobius sequence - a review
W. Briegel
CLINICAL GENETICS (2006)
Mapping corpus callosum deficits in autism: An index of aberrant cortical connectivity
Christine N. Vidal et al.
BIOLOGICAL PSYCHIATRY (2006)
Neurocutaneous syndrome with mental delay, autism, blockage in intracellular vescicular trafficking and melanosome defects
S. Buoni et al.
EUROPEAN JOURNAL OF NEUROLOGY (2006)
The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome
Darryn M. Sikora et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
A case of partial trisomy of chromosome 8p associated with autism
Katerina Papanikolaou et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2006)
DYRKIA BAC transgenic mice show altered synaptic plasticity with learning and memory defects
Kyoung-Jin Ahn et al.
NEUROBIOLOGY OF DISEASE (2006)
Genetic heterogeneity between the three components of the autism spectrum:: A twin study
Angelica Ronald et al.
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY (2006)
High levels of Alzheimer beta-amyloid precursor protein (APP) in children with severely autistic behavior and aggression
Deborah K. Sokol et al.
JOURNAL OF CHILD NEUROLOGY (2006)
Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations
T. Sahoo et al.
JOURNAL OF MEDICAL GENETICS (2006)
Pervasive developmental disorders in Prader-Willi syndrome: The Leuven experience in 59 subjects and controls
MJ Descheemaeker et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
A threshold requirement for Gbx2 levels in hindbrain development
ST Waters et al.
DEVELOPMENT (2006)
Alpha thalassaemia-mental retardation, X linked
Richard Gibbons
ORPHANET JOURNAL OF RARE DISEASES (2006)
Adaptive and maladaptive behavior in children with Smith-Magenis syndrome
Staci C. Martin et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2006)
Temporal lobe anatomy and psychiatric symptoms in velocardiofacial syndrome (22q11.2 deletion syndrome)
WR Kates et al.
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY (2006)
Genotype-phenotype correlation in Costello syndrome:: HRAS mutation analysis in 43 cases
B Kerr et al.
JOURNAL OF MEDICAL GENETICS (2006)
Survey of behaviour problems in children with neuromuscular diseases
Joanne Darke et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2006)
CHARGE syndrome:: the phenotypic spectrum of mutations in the CHD7 gene
MCJ Jongmans et al.
JOURNAL OF MEDICAL GENETICS (2006)
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
KA Strauss et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers
S Chocholska et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
A long-term population-based clinical and morbidity profile of Angelman syndrome in Western Australia: 1953-2003
AK Thomson et al.
DISABILITY AND REHABILITATION (2006)
Phenotypic spectrum of charge syndrome with CHD7 mutations
M Aramaki et al.
JOURNAL OF PEDIATRICS (2006)
Rapamycin causes regression of astrocytomas in tuberous sclerosis complex
DN Franz et al.
ANNALS OF NEUROLOGY (2006)
Abnormal expression of the G-protein-activated inwardly rectifying potassium channel 2 (GIRK2) in hippocampus, frontal cortex, and substantia nigra of Ts65Dn mouse: A model of Down syndrome
C Harashima et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2006)
Oromotor and communication findings in Joubert syndrome: Further evidence of multisystem apraxia
Barbara A. Braddock et al.
JOURNAL OF CHILD NEUROLOGY (2006)
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation
SR Lalani et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Autism spectrum disorders and underlying brain pathology in CHARGE association
M Johansson et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2006)
Tuberous sclerosis complex: clinical features, diagnosis, and prevalence within Northern Ireland
Lisa A. Devlin et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2006)
Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism
JAS Vorstman et al.
MOLECULAR PSYCHIATRY (2006)
Septo-optic dysplasia complex: A heterogeneous malformation syndrome
A Polizzi et al.
PEDIATRIC NEUROLOGY (2006)
Clinical practice in Turner syndrome
CH Gravholt
NATURE CLINICAL PRACTICE ENDOCRINOLOGY & METABOLISM (2005)
Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways
DJ Kwiatkowski et al.
HUMAN MOLECULAR GENETICS (2005)
The nature and frequency of cognitive deficits in children with neurofibromatosis type 1
SL Hyman et al.
NEUROLOGY (2005)
Association of Duchenne muscular dystrophy with autism spectrum disorder
JY Wu et al.
JOURNAL OF CHILD NEUROLOGY (2005)
Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype
KM Milner et al.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY (2005)
Recent advances in fragile X: a model for autism and neurodegeneration
RJ Hagerman et al.
CURRENT OPINION IN PSYCHIATRY (2005)
The genetic relationship between individual differences in social and nonsocial behaviours characteristic of autism
A Ronald et al.
DEVELOPMENTAL SCIENCE (2005)
Prolonged epileptiform discharges induced by altered group I metabotropic glutamate receptor-mediated synaptic responses in hippocampal slices of a fragile X mouse model
SC Chuang et al.
JOURNAL OF NEUROSCIENCE (2005)
Molecular and phenotypic characterization of ring chromosome 22
AR Jeffries et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Fragile X syndrome
A Terracciano et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2005)
Risk of tumorigenesis in overgrowth syndromes: A comprehensive review
P Lapunzina
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2005)
Genotype-phenotype associations in Sotos syndrome:: An analysis of 266 individuals with NSD1 aberrations
K Tatton-Brown et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome
SE Fine et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2005)
Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex
S Goh et al.
NEUROLOGY (2005)
Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene
TH Wassink et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2005)
3q29 Microdeletion syndrome: Clinical and molecular characterization of a new syndrome
L Willatt et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
The NF1 tumor suppressor critically regulates TSC2 and mTOR
CM Johannessen et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Outcome at 7 years of children diagnosed with autism at age 2: predictive validity of assessments conducted at 2 and 3 years of age and pattern of symptom change over time
T Charman et al.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY (2005)
Down syndrome and comorbid autism-spectrum disorder: Characterization using the aberrant behavior checklist
GT Capone et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth
M Cecconi et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression
K Makedonski et al.
HUMAN MOLECULAR GENETICS (2005)
Shank expression is sufficient to induce functional dendritic spine synapses in aspiny neurons
G Roussignol et al.
JOURNAL OF NEUROSCIENCE (2005)
Neuroanatomic observations of the brain in autism: a review and future directions
ML Bauman et al.
INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE (2005)
Autism associated with conditions characterized by developmental errors in early embryogenesis:: a mini review
MT Miller et al.
INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE (2005)
Three autism candidate genes: a synthesis of human genetic analysis with other disciplines
CW Bartlett et al.
INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE (2005)
The yield of laboratory investigations in children with infantile autism
B Kosinovsky et al.
JOURNAL OF NEURAL TRANSMISSION (2005)
A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH
C Harvard et al.
CLINICAL GENETICS (2005)
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations
MG Butler et al.
JOURNAL OF MEDICAL GENETICS (2005)
Behavioral profiles and symptoms of autism in CHARGE syndrome: Preliminary Canadian epidemiological data
IM Smith et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
CHARGE association in Sweden:: Malformations and functional deficits
K Strömland et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Homologous pairing of 15q11-13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples
KN Thatcher et al.
HUMAN MOLECULAR GENETICS (2005)
Autistic-like behavior in CHARGE syndrome
TS Hartshorne et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Behavioural characteristics and autistic features in individuals with Cohen Syndrome
P Howlin et al.
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY (2005)
Role of cholesterol in ligand binding and G-protein coupling of serotonin1A receptors solubilized from bovine hippocampus
A Chattopadhyay et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2005)
Epigenetic overlap in autism-spectrum neurodevelopmental disorders:: MECP2 deficiency causes reduced expression of UBE3A and GABRB3
RC Samaco et al.
HUMAN MOLECULAR GENETICS (2005)
14q32.3 deletion syndrome with autism
JL Merritt et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Cardiovascular anomalies in children and young adults with Ullrich-Turner syndrome -: The erlangen experience
TMK Völkl et al.
CLINICAL CARDIOLOGY (2005)
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study
SJ Moore et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
A genetic study of autism in Costa Rica: multiple variables affecting IQ scores observed in a preliminary sample of autistic cases
L. Alison McInnes et al.
BMC PSYCHIATRY (2005)
Cytogenetic abnormalities and fragile-X syndrome in autism spectrum disorder
KS Reddy
BMC MEDICAL GENETICS (2005)
Behavioural, academic and neuropsychological profile of normally gifted Neurofibromatosis type 1 children
MJ Descheemaeker et al.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH (2005)
The fragile-X premutation: A maturing perspective
PJ Hagerman et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Associated medical disorders and disabilities in children with autistic disorder - A population-based study
M Kielinen et al.
AUTISM (2004)
Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2)
K Walz et al.
HUMAN MOLECULAR GENETICS (2004)
Prader-Willi syndrome - A study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders
MWM Veltman et al.
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY (2004)
Behavioral aspects of pediatric epilepsy syndromes
FMC Besag
EPILEPSY & BEHAVIOR (2004)
Partitioning of the serotonin transporter into lipid microdomains modulates transport of serotonin
F Magnani et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Long-term depression is reduced in cerebellar Purkinje cells of dystrophin-deficient mdx mice
JL Anderson et al.
BRAIN RESEARCH (2004)
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
LELM Vissers et al.
NATURE GENETICS (2004)
Autism spectrum disorder in fragile X syndrome: Communication, social interaction, and specific behaviors
WE Kaufmann et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Less white matter concentration in autism: 2D voxel-based morphometry
MK Chung et al.
NEUROIMAGE (2004)
High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage
NJ Wang et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Terminal 22q deletion syndrome: A newly recognized cause of speech and language disability in the autism spectrum
MA Manning et al.
PEDIATRICS (2004)
Joubert syndrome: review and report of seven new cases
S Kumandas et al.
EUROPEAN JOURNAL OF NEUROLOGY (2004)
Cortical activation and synchronization during sentence comprehension in high-functioning autism: evidence of underconnectivity
MA Just et al.
BRAIN (2004)
Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons
H Jiang et al.
HUMAN MOLECULAR GENETICS (2004)
The human serotonin receptor 213: coding region polymorphisms and association with vulnerability to illegal drug abuse
ZC Lin et al.
PHARMACOGENETICS (2004)
Characterizing the musical phenotype in individuals with Williams Syndrome
DJ Levitin et al.
CHILD NEUROPSYCHOLOGY (2004)
Cohen syndrome in the Ohio Amish
MJ Falk et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese population
T Marui et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2004)
A linkage disequilibrium map of the 1-Mb 15q12 GABAA receptor subunit cluster and association to autism
JL McCauley et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2004)
Histone deacetylase 4 controls chondrocyte hypertrophy during skeletogenesis
RB Vega et al.
CELL (2004)
Chromosome 2q terminal deletion: Report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals
KA Casas et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
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