FLCN-Mutated Tumors in Smith-Magenis Syndrome: A Case Report of FLCN-Associated Pathogenesis.

Sleep disorders in children with Smith-Magenis Syndrome - a neurodevelopmental disorder with sleep-wake-rhythm-dysfunction - recommendations for pediatricians.

Behavioral Phenotype and Neuropsychological Profile of an Adult With Smith-Magenis Syndrome due to a Previously Unreported RAI1 Mutation: A Case Report.

A Clinical Practice Example of Smith-Magenis Syndrome in the Neuropediatric Clinic: Etiology, Clinical Presentation, Diagnostics and Therapeutic Approaches-A Case Report.

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Empowering through structured boundaries: an integral model for fostering balanced eating and nutritional well-being.

17q12 Recurrent Deletion Syndrome in Childhood.

Sexual Health and Transition Needs in an Adolescent Girl With Attention-deficit Hyperactivity Disorder and Smith-magenis Syndrome.

Clinical, Sleep, and Chronobiological Characteristics of Children with Smith-Magenis Syndrome Under Treatment for Sleep Disorders.

Growth Standards for Children With Smith-Magenis Syndrome (SMS).

A case of nephroblastoma with inferior vena cava invasion arising in a patient with Smith-Magenis syndrome.

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

Sleep disorder assessment in children and adolescents with neurodevelopmental disorders.

Molecular and developmental deficits in Smith-Magenis syndrome human stem cell-derived cortical neural models.

Cochliomyia hominivorax aural myiasis in a 7-year-old traveler.

Retinoic Acid Induced 1 and Smith-Magenis Syndrome: From Genetics to Biology and Possible Therapeutic Strategies.

Weight Management in a Patient With Smith-Magenis Syndrome: The Role of GLP-1 Receptor Agonists.

Retinoic Acid-Induced 1 Gene and Neuropsychiatric Diseases: A Systematic Review.

Morphologic and immunophenotypic characterization of conventional FLCN-mutated tumors (FMT) compared to a series of 8 non-conventional FMT.

Deletion of RAI1 noncoding exons 1-2 causes Smith-Magenis syndrome.

Generation and characterization of the CSSi021-A (15665) human induced pluripotent stem cell line from a Smith-Magenis syndrome patient with a heterozygous RAI1 mutation.

Protocol MelatoSom-Kids-PTSD: sleep disturbances in children and adolescents with post-traumatic stress disorder (PTSD) - a randomized double-blind placebo-controlled trial to investigate the efficacy of paediatric prolonged-release melatonin.

Deletion of 17p in cancers: Guilt by (p53) association.

A rare case of pancreatic mucinous cystic neoplasm in a pediatric patient.

Smith-Magenis syndrome with Dandy-Walker malformation in a 2-year-old girl: A case report.

Circadian Regulation in Diurnal Mammals: Neural Mechanisms and Implications in Translational Research.

Sugar-coated Sleep: Raising Dental Red Flags in Smith-Magenis Syndrome.

Chronic Hypercapnic Respiratory Failure in a Patient With Smith-Magenis Syndrome: A Case Report.

Whole Exome Sequencing of a Multiplex Family of Indian Origin Identifies Variants in the RAI1 and FLII Genes within the 17p11.2 Region in Siblings with Autism and Smith Magenis Syndrome.

Real-World Outcomes of Upfront Autologous Hematopoietic Stem Cell Transplantation in Patients With Newly Diagnosed Multiple Myeloma With Deletion 17p.

Analysis of Voice Quality in Children With Smith-Magenis Syndrome.

Novel RAI1:c.2736delC Variant in Smith-Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis.

Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region.

Dystonia: A novel sign of the Smith-Magenis syndrome - A three-case report.

Prenatal diagnosis of monozygotic twins with phenotypic differences in chromosome 17q12 deletion syndrome.

Overlapping hearing and communication profiles for the deletion and the RAI1 variant form of Smith-Magenis Syndrome (SMS).

Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome.

Case Report: A Case of a Patient with Smith-Magenis Syndrome and Early-Onset Parkinson's Disease.

Blind to the perils of pursuing food: Behaviors of individuals with Smith-Magenis Syndrome.

Investigation of setmelanotide, an MC4R agonist, for obesity in individuals with Smith-Magenis syndrome.

CRISPR-based genome editing of a diurnal rodent, Nile grass rat (Arvicanthis niloticus).

Insomnia in children affected by autism spectrum disorder: The role of melatonin in treatment.

Association of behavioural and social-communicative profiles in children with 16p11.2 copy number variants: a multi-site study.

Exploring an objective measure of overactivity in children with rare genetic syndromes.

Identification of Smith-Magenis syndrome cases through an experimental evaluation of machine learning methods.

Physiotherapy intervention in Smith-Magenis syndrome: A case report based on exercise therapy for postural control and balance.

Seizure as First Manifestation of Hemolytic Uremic Syndrome with Bacteremia due to Shiga Toxin-Producing Escherichia coli.

Rab11a Controls Cell Shape via C9orf72 Protein: Possible Relationships to Frontotemporal Dementia/Amyotrophic Lateral Sclerosis (FTDALS) Type 1.

Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort.

Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.

Speech, Language, Hearing, and Otopathology Results From the International Smith-Magenis Syndrome Patient Registry.

Comparative analyses of the Smith-Magenis syndrome protein RAI1 in mice and common marmoset monkeys.

Artificial Intelligence Procedure for the Screening of Genetic Syndromes Based on Voice Characteristics.

Melatonin in Neurodevelopmental Disorders: A Critical Literature Review.

Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.

Smith-Magenis syndrome protein RAI1 regulates body weight homeostasis through hypothalamic BDNF-producing neurons and neurotrophin downstream signalling.

The developmental trajectory of sleep in children with Smith-Magenis syndrome compared to typically developing peers: a 3-year follow-up study.

Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review.

A case of Smith-Magenis syndrome with skin manifestations caused by a novel locus mutation in the RAI1 gene.

Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant.

Psychiatric and neurological manifestations in adults with Smith-Magenis syndrome: A scoping review.

Cerebral Venous Thrombosis in a Patient With Smith-Magenis Syndrome.

A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.

Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.

rAAV-CRISPRa therapy corrects Rai1 haploinsufficiency and rescues selective disease features in Smith-Magenis syndrome mice.

A de novo mutation (p.S1419F) of Retinoic acid induced 1 is responsible for a patient with Smith-Magenis syndrome exhibiting schizophrenia.

Loss of Rai1 enhances hippocampal excitability and epileptogenesis in mouse models of Smith-Magenis syndrome.

[Genetic diagnosis of a case of Smith-Magenis syndrome due to a rare small-scale deletion].

Mosaic RAI1 variant in a Smith-Magenis syndrome patient with total anomalous pulmonary venous return.

A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele.

Direct assessment of overnight parent-child proximity in children with behavioral insomnia: Extending models of operant and classical conditioning.

Sleep disturbances and behavior in Smith-Magenis syndrome.

Relationships between food-related behaviors, obesity, and medication use in individuals with Smith-Magenis syndrome.

Smith-magenis syndrome: A rare case report.

[Clinical characteristics and genetic analysis of a neonate with Smith-Magenis syndrome].

Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation.

Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.

[A case of Smith-Magenis syndrome].

Management of Attention Deficits and Behavioral Dyscontrol With an Evening-Dosed Methylphenidate Formulation in Smith-Magenis Syndrome.

Children with neurodevelopmental disorders: how do they sleep?

Caregivers' experience of sleep management in Smith-Magenis syndrome: a mixed-methods study.

Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith-Magenis and Potocki-Lupski Syndromes in Fetuses.

Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes.

[Sleep disturbance associated with Smith-Magenis syndrome].

Potocki-Lupski Syndrome Dup17p11.2 in a Girl with Hypotonia and Early Behavioural Disturbances.

Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith-Magenis syndrome: protocol for a series of N-of-1 trials.

Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings.

Temporal dissection of Rai1 function reveals brain-derived neurotrophic factor as a potential therapeutic target for Smith-Magenis syndrome.

Tasimelteon safely and effectively improves sleep in Smith-Magenis syndrome: a double-blind randomized trial followed by an open-label extension.

Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith-Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling.

Acoustic Analysis of Phonation in Children With Smith-Magenis Syndrome.

Possible underreporting of pathogenic variants in RAI1 causing Smith-Magenis syndrome.

Insight into del17p low-frequency subclones in chronic lymphocytic leukaemia (CLL): data from the Australasian Leukaemia and Lymphoma Group (ALLG)/CLL Australian Research Consortium (CLLARC) CLL5 trial.

BACs-on-Beads Assay for the Prenatal Diagnosis of Microdeletion and Microduplication Syndromes.

Smith-Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature.

Birt-Hogg-Dubé symptoms in Smith-Magenis syndrome include pediatric-onset pneumothorax.

Sleep disorders in rare genetic syndromes: a meta-analysis of prevalence and profile.

Hidradenitis suppurativa and chromosomal abnormalities: a case report and systematic review of the literature.

Effect of the use of an iPad on the attention span of a child with Smith Magenis Syndrome: A single case study.

Endogenous melatonin and sleep in individuals with Rare Genetic Neurodevelopmental Disorders (RGND): A systematic review.

Autistic traits and mental health in women with the fragile-X premutation: maternal status versus genetic risk.

Sleep Coaching for Sleep Inversion in Smith-Magenis Syndrome.

Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.

Treatment of relapsed chronic lymphocytic leukemia after venetoclax.

First-trimester cystic hygroma and neurodevelopmental disorders: The association to remember.

Adrenocorticotropic Hormone Therapy Improved Spasms and Sleep Disturbance in Smith-Magenis Syndrome: A Case Report.

Outcomes of multiple myeloma patients with del 17p undergoing autologous stem cell transplantation.

Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD.

[Current diagnosis and treatment of chronic lymphocytic leukaemia].

RAI1 Regulates Activity-Dependent Nascent Transcription and Synaptic Scaling.

Prenatal diagnosis of BACs-on-Beads assay in 1520 cases from Fujian Province, China.

Smith-Magenis Syndrome: Clues in the Clinic.

RAB39B's role in membrane traffic, autophagy, and associated neuropathology.

Monoclonal gammopathy and serum immunoglobulin levels as prognostic factors in chronic lymphocytic leukaemia.

Microfibril-associated glycoprotein 4 (Mfap4) regulates haematopoiesis in zebrafish.

C9orf72-associated SMCR8 protein binds in the ubiquitin pathway and with proteins linked with neurological disease.

Prenatal diagnosis and neonatal phenotype of a de novo microdeletion of 17p11.2p12 associated with Smith-Magenis syndrome and external genital defects.

Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.

Monosomal karyotype and chromosome 17p loss or TP53 mutations in decitabine-treated patients with acute myeloid leukemia.

Management of Sleep Disturbances Associated with Smith-Magenis Syndrome.

Do microdeletions lead to immune deficiency?

Treatment algorithm for Japanese patients with chronic lymphocytic leukemia in the era of novel targeted therapies.

Genomic analysis of multiple myeloma using targeted capture sequencing in the Japanese cohort.

A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations.

Whole genome analysis identifies the association of TP53 genomic deletions with lower survival in Stage III colorectal cancer.

Treatment strategy in a patient showing borderline features between plasmablastic lymphoma and plasmablastic myeloma harboring a 17p deletion.

Comparison of real-world treatment patterns in chronic lymphocytic leukemia management before and after availability of ibrutinib in the province of British Columbia, Canada.

Age-related changes in behavioural and emotional problems in Smith-Magenis syndrome measured with the Developmental Behavior Checklist.

C9orf72 and smcr8 mutant mice reveal MTORC1 activation due to impaired lysosomal degradation and exocytosis.

Sleep disorders in children with Angelman and Smith-Magenis syndromes: The assessment of potential causes of disrupted settling and night time waking.

Sleep in children with Smith-Magenis syndrome: a case-control actigraphy study.

TP53 mutations and relevance of expression of TP53 pathway genes in paediatric acute myeloid leukaemia.

Apical-Basal Polarity Signaling Components, Lgl1 and aPKCs, Control Glutamatergic Synapse Number and Function.

Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B.

Hidradenitis Suppurativa in a Patient with Smith-Magenis Syndrome: A Case Report.

Case of Smith-Magenis Syndrome.

Development of a prognostic model for overall survival in multiple myeloma using the Connect® MM Patient Registry.

Objective measures of sleep disturbances in children with Potocki-Lupski syndrome.

Smith-Magenis Syndrome: Molecular Basis of a Genetic-Driven Melatonin Circadian Secretion Disorder.

[Genetic diagnosis of a child with Smith-Magenis syndrome].

Malignant teratoma of the thyroid: A difficult diagnosis by fine-needle aspiration.

Pediatric Prolonged-Release Melatonin for Sleep in Children with Autism Spectrum Disorder: Impact on Child Behavior and Caregiver's Quality of Life.

Parental experiences with behavioural problems in Smith-Magenis syndrome: The need for syndrome-specific competence.

Molecular basis for phenotypic similarity of genetic disorders.

SurVIndel: improving CNV calling from high-throughput sequencing data through statistical testing.

Intricate Regulation of Phosphoenolpyruvate Carboxykinase (PEPCK) Isoforms in Normal Physiology and Disease.

Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor.

Genomic data in prognostic models-what is lost in translation? The case of deletion 17p and mutant TP53 in chronic lymphocytic leukaemia.

Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.

[The sleep in children with neurodevelopmental disorders].

A distinctive DNA methylation pattern in insufficient sleep.

SMCR8 negatively regulates AKT and MTORC1 signaling to modulate lysosome biogenesis and tissue homeostasis.

Twenty-four-hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith-Magenis syndrome, a neurodevelopmental disorder.

An interaction-based model for neuropsychiatric features of copy-number variants.

Behavior and sleep disturbance in Smith-Magenis syndrome.

Selecting Frontline Therapy for CLL in 2018.

Using a Functional Analysis Followed by Differential Reinforcement and Extinction to Reduce Challenging Behaviors in Children With Smith-Magenis Syndrome.

Prenatal Diagnosis of BACs-on-Beads Assay in 3647 Cases of Amniotic Fluid Cells.

Prognostic and therapeutic stratification in CLL: focus on 17p deletion and p53 mutation.

Haploinsufficiency of NCOR1 associated with autism spectrum disorder, scoliosis, and abnormal palatogenesis.

The phase 3 DUO trial: duvelisib vs ofatumumab in relapsed and refractory CLL/SLL.

Early adolescent Rai1 reactivation reverses transcriptional and social interaction deficits in a mouse model of Smith-Magenis syndrome.

Cost-effectiveness of ibrutinib as first-line therapy for chronic lymphocytic leukemia in older adults without deletion 17p.

Comprehensive Safety Analysis of Venetoclax Monotherapy for Patients with Relapsed/Refractory Chronic Lymphocytic Leukemia.

Evaluation of 230 patients with relapsed/refractory deletion 17p chronic lymphocytic leukaemia treated with ibrutinib from 3 clinical trials.

A large interstitial 11q deletion with isolated mild intellectual disability: review of the literature for genotype-phenotype correlation.

Application of an improved targeted next generation sequencing method to diagnose non‑syndromic mental retardation in one step: A case report.

A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.

Overview of Social Cognitive Dysfunctions in Rare Developmental Syndromes With Psychiatric Phenotype.

An Update on Common Chromosome Microdeletion and Microduplication Syndromes.

Venetoclax for Patients With Chronic Lymphocytic Leukemia With 17p Deletion: Results From the Full Population of a Phase II Pivotal Trial.

An estimation of the prevalence of genomic disorders using chromosomal microarray data.

Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith-Magenis syndrome.

A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex.

Cumulative experience and long term follow-up of pentostatin-based chemoimmunotherapy trials for patients with chronic lymphocytic leukemia.

Optimal management of the young patient CLL patient.

Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients.

The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison.

Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome.

Functional analysis and treatment of problem behavior related to mands for rearrangement.

Next Generation Sequencing and Genome-Wide Genotyping Identify the Genetic Causes of Intellectual Disability in Ten Consanguineous Families from Jordan.

Application of the BACs-on-Beads™ assay for rapid prenatal detection application of BoBs™ for PND of aneuploidies and microdeletions.

Safety profiles of novel agent therapies in CLL.

How should we sequence and combine novel therapies in CLL?

RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.

Efficacy and Safety of Pediatric Prolonged-Release Melatonin for Insomnia in Children With Autism Spectrum Disorder.

Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men.

[Application of chromosomal microarray analysis for fetuses with ventricular septal defects].

[Phenotypic and genetic analysis of a child carrying a 17q11.2 microdeletion].

Sleep Disorders in Childhood Neurogenetic Disorders.

RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome.

Chronic lymphocytic leukemia: 2017 update on diagnosis, risk stratification, and treatment.

[Social cognition in children with neurogenetic syndromes: A literature review].

[Clinical Features and Response to Treatment in Newly Diagnosed Multiple Myeloma Patients with Deletion 17P].

Treatment of Del17p and/or aberrant TP53 chronic lymphocytic leukemia in the era of novel therapies.

Rai1 frees mice from the repression of active wake behaviors by light.