Ovarian Hormones Moderate Systolic Hypertension in Female Eln Haploinsufficient Mice.

Modeling Williams syndrome from a neurodevelopmental perspective: recent advances, model-based translational insights and future directions.

Unaltered empathy-related behaviors in Williams-Beuren syndrome mouse models.

De Novo 3q27.1 Microdeletion Refines the Critical Region and Implicates PSMD2 Haploinsufficiency in Growth and Neurodevelopmental Abnormalities.

Endocrine stimulation in men with non-obstructive azoospermia and low serum testosterone prior to micro-TESE: hormonal response as a predictor of sperm retrieval.

Right-Sided Aortic Arch Presenting as Chronic Cough in a 50-Year-Old Patient With DiGeorge Syndrome: A Report of a Rare Case.

Delineating the trajectory of adult chronic diseases and healthcare use for 22q11.2 microdeletion in a general population context.

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

Genetic Mapping of the 22q11.2 Deletion Syndrome (DiGeorge Syndrome) Microdeletion Types Revealed Novel Candidate Breakpoints.

Adaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant.

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

Prenatal Diagnosis and Genotype-Phenotype Correlation in 8q21.11 Microdeletion Syndrome: A Case Report.

From Thymic Hypoplasia to Immune Reconstitution: An Immunological Review of DiGeorge Syndrome.

Clinical features and management of 16q24.3 microdeletion KBG syndrome: literature review.

Clinical Presentation and Molecular Characteristics of Kabuki Syndrome With Congenital Hyperinsulinism: A Retrospective Study.

Clinical and genetic characterization of patients with Digeorge syndrome: a single-center, first report from Sudan.

Zooming into rearranged genome: applying pipeline of cytological, genomic, and transcriptomic methods for structural variant interpretation.

[Genetic analysis of a fetus with 12q14 microdeletion syndrome].

Characterizing Secondary Velopharyngeal Surgery in Children With Cleft Palate at an Academic Center.

[Van Wyk-Grombach syndrome as a result of late diagnosis of autoimmune thyroiditis (ait) in a patient with chromosome 22 deletion syndrome. Description of the clinical case and a brief review of the literature].

Hypomagnesemia as a primary clue for the diagnosis of 17q12 deletion syndrome associated with spinal syringomyelia: a case report.

Methylation profile characteristics in the H19/IGF2:IG-DMR revealed by long-read sequencing analysis in patients with Beckwith-Wiedemann syndrome having defects in the OCT4/SOX2 binding site.

Congenital disorder of deglycosylation 2. Report of a novel MAN2C1 pathogenic variant and additional phenotypic implications.

A Patient With Intellectual Disability, Agenesis of Corpus Callosum, and Congenital Heart Disease Associated With Chromosome 10p11.2 Microdeletion.

[Prenatal ultrasound manifestations and postnatal follow-up of fetuses with 22q11.2 microdeletion syndrome].

Early rebalancing of neuroinflammatory cascades lastingly rescues prefrontal deficits in a 22q11.2ds model.

Genetic Analysis of Prenatal Renal Abnormalities in 17q12 Microdeletion Syndrome.

Simultaneous occurrence of bilateral retroperitoneal neuroblastoma and bifocal malignant mixed germ cell tumor in a pediatric patient with 16p11.2 microdeletion syndrome: a case report.

UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial Gestalt.

46,XY DSD with Partial Gonadal Dysgenesis and Growth Failure in a Patient with 3q27.1 Microdeletion: Candidate Gene Curation After Exhaustive Literature Review.

Genetic counselors' perspectives on the expanded use of non-invasive prenatal testing.

Efficacy of Dravet Syndrome Treatments in a Subset of Individuals with 2q24.3 Deletion: A-5 Patient Case Series.

Sex-determining Region of Y-gene Translocation and 46,XX Testicular Disorders of Sex Development: Cytogenetic and Molecular Insights into Male Infertility.

Prenatal ultrasound diagnoses fetal amniotic band syndrome causing fetal gastroschisis: A case report.

Suppressive Genetic Interactions Between Haploinsufficient Mitochondrial Genes Encoded in the 22q11.2 Microdeletion Locus Define Brain and Cardiac Phenotypes.

Management of hypoparathyroidism during pregnancy following late maternal diagnosis of DiGeorge syndrome: a case report.

[Distal 18q deletion syndrome (18q-) in a pediatric patient].

Hidden in Plain Sight: A Rare 7q Deletion Masquerading as a Common Aneuploidy on Prenatal Ultrasound.

Prenatally Diagnosed 7q11.23 Copy Number Variations: A Retrospective Case Series.

Sertoli cells-only syndrome: current clinical approaches and ongoing research trends.

Joint hypermobility as a manifestation of neonatal Sotos syndrome.

Endothelial defects unveil cardiovascular phenotype in iPSC-based disease modelling across three generations of a DiGeorge syndrome family.

Case Report: Synergistic effects of an ASXL3 mutation and a 15q11.2 BP1-BP2 microdeletion in a severe neurodevelopmental phenotype.

Systematic Review on Genetic Variants in Children With Cerebral Palsy.

In-depth profile analysis and developmental trends in Wechsler performance among individuals with Williams syndrome.

Heterozygous loss of OSR2 can cause radioulnar synostosis with ancillary skeletal manifestations.

Resting Energy Expenditure in Adults With Williams Syndrome: Comparative Accuracy of Predictive Equations.

Two Unrelated Witteveen-Kolk Syndrome Patients Presenting with Unusual Clinical Features: Dual Diagnosis and Atypical Rare Manifestation.

Genetic etiology and pregnancy outcomes of abnormal fluid accumulation in fetus: A retrospective cohort study.

Novel variants associated with premature ovarian insufficiency in Russian adolescents.

Prefrontal parvalbumin neurons as a target for enhancing cognition in non-pathological and 22q11.2 microdeletion syndrome mice.

Comparative analysis of clinical phenotypes and genetic characteristics in MEF2C-associated neurodevelopmental disorders.

Clinical application of preimplantation genetic testing for pathogenic microdeletion and microduplication based on an effective and convenient sequencing platform.

From DGCR8 expression analysis to diseased pathways in 22q11.2 deletion syndrome.

Revealing Monogenic Diabetes: Clinical and Genetic Features of Pediatric MODY Cases in Türkiye: Single Center Experience.

Charting Brain Structure in 22q11.2 Deletion Syndrome with Clinical Neuroimaging.

Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.

Rare co-existence of 15q26 deletion syndrome and lymphangioleiomyomatosis: diagnostic and therapeutic challenge.

Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectives.

Microdeletion and microduplication syndromes, including recurrent rearrangements at 16p11.2 and 22q11.21, are enriched in unexplained male infertility.

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review.

The importance of intrafamilial cognitive phenotyping by the case of 22q11.2 deletion, 15q11.2 deletion, and families with inherited copy number variants of unknown significance.

Nephrocalcinosis in a Child with Sotos Syndrome: A Case Report of Contiguous Gene Syndrome Encompassing NSD1 and SLC34A1 Genes.

A Case Report: Identification of a Pathogenic Microdeletion at Chromosome 21q21.3q22.13 Using Whole-Exome Sequencing and CNV Analysis in a Moroccan Child with Global Developmental Delay.

Otofaciocervical Syndrome and Its Overlap with Branchiootorenal Spectrum: An Integrated Literature Analysis of EYA1-Related Disorders, Including a Novel Case with an 8q13.2q13.3 Deletion.

A Del(5Ncf1-Fkbp6) mouse model of Williams syndrome shows coronary, aortic, and cerebral vascular abnormalities with behavioral deficits.

The role of autoantibodies in the neuropsychiatric manifestations of 22q11 deletion syndrome.

A rare case of de novo 20p12.3 microdeletion syndrome in a nine-year-old female: case report and literature review.

The Whsc2/NelfA -dependent transcription complex is required for postnatal cardiac development and heart function.

Genotype-phenotype correlations in 9q34.3 microdeletion syndrome: a study of 35 Mainland Chinese patients.

The spectrum of cytogenetics and clinical profile in Robertsonian translocations: An experience of two decades from tertiary referral center in India.

Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes.

Chromosomal Microarray Analysis as a Diagnostic Tool in Congenital Heart Diseases.

Exploring the diversity of 1p36 microdeletion syndrome in patients diagnosed in adulthood.

Can cell-free fetal DNA screening be utilized for the assessment of chromosomal abnormalities in fetuses with mildly increased nuchal translucency?

Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans.

Mexican Patients With Suspected 22q11.2 Deletion Syndrome: Clinical Characterization and Molecular Findings by Fluorescence In Situ Hybridization and Multiplex Ligation-Dependent Probe Amplification.

Comprehensive prenatal and postnatal analysis of 22q11.2 microdeletion syndrome: a single-center study.

Metabolic Dysfunction-Associated Steatotic Liver Disease in a Patient with Phelan-McDermid Syndrome.

Chromosomal Roadblocks in Male Fertility: Mechanisms, Risk Factors and Syndromes.

Brain Monoamine Deficits in the CD Mouse Model of Williams-Beuren Syndrome.

Progressive hypergonadotropic hypogonadism in an adolescent with 22q11.2 deletion syndrome.

A Case Report: Co-Occurrence of TNRC6B Gene Variant and Xq28 Microdeletion Syndrome With Comprehensive Literature Review.

7p21.1 Microdeletion Encompassing the ACTB Gene in a Japanese Child: Longitudinal Clinical and Neuroimaging Findings.

Optical mapping in Black genomes: Distinct LCR22 structures and 22q11.2 deletion syndrome mechanisms.

Prenatal diagnosis of 15q13.3 deletion and duplication syndrome: what do we tell the prospective parents?

Genetic analyses using chromosomal microarray and exome sequencing in fetuses and women with Müllerian duct anomalies.

Genotype-Phenotype Correlation and Psychiatric Manifestations in a Case of Phelan-McDermid Syndrome With 22q13.33 Deletion.

Ophthalmic features of 218 children with Williams syndrome in china: A single-center retrospective study.

Performance of Prenatal Cell-Free DNA Screening for Foetal Chromosome Aneuploidies and Microdeletion/Microduplication Syndromes: A Retrospective Study of 64,482 Consecutive Cases From a Prenatal Diagnosis Centre in China.

Detection of chromosomal and gene abnormality with karyotyping, chromosomal microarray analysis and trio-based whole exome sequencing in pregnancies with fetal growth restriction: implications for precise prenatal diagnosis.

DIP2C Deficiency Leads to Abnormal Sphingolipid Metabolism in Mice.

Wiedemann-Steiner syndrome: description of genetic profiles and clinical phenotypes of 10 Korean pediatric patients.

Recurrent structural variation and recent turnover at the 17q21.31 locus in humans and great apes.

Transition services in 22q11 deletion syndrome: Hit or miss.

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

Clinical application of CNV-seq for diagnosing abnormal brain development in children.

Chronic granulomatous herpes simplex encephalitis in a child with digeorge syndrome- expanding the spectrum of herpes-associated neurological disease.

MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.

Genomic Insights into Short Stature in Children Born Small for Gestational Age: A Korean Multicenter Exome Study.

A family case of a rare Xq28 duplication.

Dysfunction of cortical GABAergic projection neurons as a major hallmark in a model of neuropsychiatric syndrome.

Ductal stenting for hypoplastic left heart syndrome with right aortic arch associated with 20q11.2 microdeletion syndrome.

Clinical phenotype and genetic analysis of a family with 17q12 microdeletion syndrome.

Simultaneous Le Fort III and Le Fort I Osteotomies for Rare Midfacial Hypoplasia in a Patient with 15q11.2 Microdeletion-A Multidisciplinary Approach.

The deficiency of DIP2C leads to congenital heart defects in patients with 10p15.3 microdeletion syndrome.

A case of Dravet syndrome with a novel SCN1A gross deletion involving the promoter region.

Computational model of alpha 7 nicotinic acetylcholine receptor in thalamic reticular nucleus neurons and their involvement in network states.

Prenatal Rare 16q24.1 Deletion Between Genomics and Epigenetics: A Review.

The Role of MLPA in Detecting Syndromic Submicroscopic Copy Number Variations in Normal QF-PCR Miscarriage Specimens.

Altered Behavior and Neuronal Activity with Paternal Snord116 Deletion.

Human ectodermal organoids reveal the cellular origin of DiGeorge Syndrome.

Hypertrophic cardiomyopathy occurred after successful surgical correction of supravalvular aortic stenosis: a case report of Williams-Beuren syndrome.

Structural variation, selection, and diversification of the NPIP gene family from the human pangenome.

Early-Onset 15q11.2 Microdeletion Syndrome in a Six-Year-Old Child: A Case Report of Refractory Epilepsy, Autism, and Multisystem Manifestations.

Evaluating the relationship between caregiver depression, social support, and children's internalizing and externalizing symptoms in families affected by 22q11.2 deletion syndrome.

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

Junctional Epidermolysis Bullosa Caused by a Hemiallelic Nonsense Mutation in LAMA3 Revealed by 18q11.2 Microdeletion.

Integrated Genomic Approach: A Five Exon Intragenic Deletion in UNC80 Combines With a Novel Splice Variant to Cause IHPRF2 Syndrome in an Italian Family.

Prenatal diagnosis and genetic counseling of a case with trisomy 20 mosaicism and mixed-type maternal UPD20.

Investigating the relationship between sleep disturbances and psychopathology In children and adolescents with microdeletion of 22q11 chromosome: an exploratory study.

Loss of miR-9-2 Causes Cerebral Hemorrhage and Hydrocephalus by Widespread Disruption of Cell-Type-Specific Neurodevelopmental Gene Networks.

Chromosome 1p31.1 Deletion: A Case With Developmental Delay, Hypotonia, Cryptorchidism, Abnormal Oral Frenulum, and Feet Deformity.

49, XXXYY: Parental Origin, Occurrence, and Clinical Phenotypes.

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

Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches.

A 261 kb deletion spanning three genes is causing Rubinstein-Taybi syndrome type 1 in a 6-year-old boy belonging to Kashmir valley, India.

Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing.

Complex strabismus in a patient with KBG syndrome with 16q24.3 microdeletion.

[Cardiofaciocutaneous syndrome caused by microdeletion of chromosome 19p13.3: a case report and literature review].

Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review.

Health Supervision for Children With 22q11.2 Deletion Syndrome: Clinical Report.

Expression of marker genes to assess the spermatogenic capacity in patients with idiopathic non-obstructive azoospermia.

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.

Male infertility and its ties to next generation sequencing as a new forward path to definite diagnoses.

Male sex reversal syndrome: a disorder of sexual differentiation (DSD) with infertility.

Diagnostic contribution of conventional and molecular karyotyping in congenital diaphragmatic hernia related copy number variations.

Telangiectasia in the Distribution of the Superior Vena Cava: A Novel Dermatological Manifestation of 22q11.2 Deletion Syndrome.

EARLYBIRD: catching the earliest changes of the bone and intervertebral discs in children at increased risk for scoliosis development with MRI - study protocol of a prospective observational cohort study.

A novel NR2F1-associated microdeletion underlying Bosch-Boonstra-Schaaf optic atrophy syndrome.

Phenotypic Heterogeneity of 16p11.2 Microdeletion Syndrome: 5 Case Reports.

Prevalence, spermatozoa, hormonal, and genetic evaluation of rare mosaic klinefelter syndrome patients in southern China.

17q12 Microdeletion Syndrome Initially Presenting with Tremor in Maturity-Onset Diabetes of the Young.

Dissecting the Phenotypic Spectrum and Complexity of Movement Disorders in 22q11.2 Deletion Syndrome.

[Clinical and genetic investigation of 4 children with microdeletion KBG syndrome].

Epileptic seizures and EEG findings in 3p deletion syndrome involving SLC6A1.

Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort.

Long-Read Whole-Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly.

A Patient with a Small Deletion Affecting Only Exon 1-Intron 1 of the NXF5 Gene: Potential Evidence Supporting Its Role in Neurodevelopmental Disorders.

A Novel Frameshift Variant and a Partial EHMT1 Microdeletion in Kleefstra Syndrome 1 Patients Resulting in Variable Phenotypic Severity and Literature Review.

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.

Putative Predictive Value of Etiological and Clinical Factors on Sperm Retrieval Outcomes in Non-Obstructive Azoospermia Using Micro-TESE: A Retrospective Study.

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

Analysis of clinical audiological characteristics in children with Williams syndrome in China.

A new association between Kleefstra syndrome and Panayiotopoulos epilepsy.

Deep clinical and genetic analysis of 17p13.3 region: 38 pediatric patients diagnosed using next-generation sequencing and literature review.

A 19q13 microdeletion syndrome presenting with punding, frangophilia, hypermetamorphosis, frontal lobe and vermal hypoplasia, with depression misdiagnosed as schizophrenia, treated with mirtazapine.

A de novo microdeletion of 3q27.1-3q27.2 causing fetal growth retardation: a case report and literature review.

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.

[Xp21 contiguous gene deletion syndrome].

A non-fasting marker of metabolic syndrome in a high-risk population.

Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of 300 Indian Patients.

Prenatal Diagnosis and Clinical Phenotypic Heterogeneity of 22q11.2 Microdeletion Syndrome Based on a Single Center Retrospective Study.

Chromosome defects and male factor infertility.

Variant pubertal development in Prader-Willi syndrome: early and slow progression of pubarche with normal age at gonadarche.

Thirteen cases support the clinical significance of imprinting center 1 (IC1) microdeletions in Beckwith-Wiedemann syndrome.

Augmented hippocampal up-regulation of immune modulators following a peripheral immune challenge in a hemizygous mouse model of the 15q13.3 microdeletion.

Uncovering a Diagnosis Through Reanalysis of UBA2 Variants in a Patient with Syndactyly, Polydactyly, and Aplasia Cutis Congenita: A Short Report and a Review of the Literature.

Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome.

New Insights into Chromosomal Regions 15p11.2-15q11.2 by Studying Submicroscopic Variations Using Molecular Cytogenetics.

Prenatal screening for genetic disorders: updated guidelines, proposed counseling, a holistic approach for primary health care providers in developing countries.

Prenatal diagnosis of imprinted associated chromosome abnormalities identified by noninvasive prenatal testing (NIPT).

Retrospective study on NIPT or NIPT plus combined with ultrasound in screening fetal chromosomal abnormalities.

The selection of Y chromosome microdeletion detection methods based on seminal analysis results: a comparison of high-throughput sequencing and fluorescence quantitative polymerase chain reaction (qPCR) applications.

Prenatal diagnosis and molecular cytogenetic analyses of a rare 15q21.3 and 16p11.2 microduplication family.

Genetics of male infertility.

Classification of Brain Magnetic Resonance Imaging Abnormalities and Spectrum of Neurological Findings in a Cohort with Copy Number Variation-Related Disorders.

Congenital heart disease presentations in the 15q11.2 microdeletion syndrome.

Genetic diversity and regulatory features of human-specific NOTCH2NL duplications.

Rubinstein-Taybi syndrome with ganglioneuroblastoma: a case report and literature review.

Genetic anomalies in infertile Egyptian men and their impact on sperm retrieval rates and intracytoplasmic sperm injection outcome: A retrospective cohort study.

Prenatal diagnosis and genetic counseling of a Chinese family with inherited multiple chromosomal microduplications.

DGCR8 haploinsufficiency leads to primate-specific RNA dysregulation and pluripotency defects.

Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations.

Clinical phenotypic spectrum of NRXN1 microdeletions and their association with epilepsy: A systematic review and meta-analysis.

Investigation of 22q11.2 Deletion Syndrome in the first Moroccan Pediatric Patients series.

Unraveling Hematological Anomalies in DiGeorge Syndrome: A Retrospective Study of Thrombocytopenia and Mean Platelet Volume.

Highlighting cardiovascular manifestations of kleefstra syndrome: literature review and clinical insights.

Chromosomal Microarray in Children Born Small for Gestational Age - Single Center Experience.

Genetic counseling of prenatally detected familial 15q13.2q13.3 microdeletion encompassing CHRNA7 and OTUD7A with asymptomatic carriers in the family.

Prenatal diagnosis of a de novo 17q25.3 microdeletion encompassing RAC3 and CSNK1D in a fetus associated with partial agenesis of the corpus callosum, small brain volume, micrognathia and total anomalous pulmonary venous return.

Case report: The smallest 9p21.3 microdeletion involving CDKN2A but not CDKN2B causes multiple plexiform neurofibromas.

Towards a genetics of semantics? False memories and semantic memory organization in Williams syndrome.

N -Acetylcysteine for Nonsuicidal Self-Injurious Behavior in 3 Adults With Williams Syndrome : A Case Series.

16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome.

Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.

Clinical and Molecular Genetic Analyses of a Girl With Isolated Nephrogenic Diabetes Insipidus due to Contiguous Gene Deletion Involving AVPR2 and L1CAM.

Fetal bilateral hyperechogenic kidneys: Prenatal progression and long-term postnatal outcome.

Unmasking a Recessive Allele by a Rare Interstitial Deletion at 10q26.13q26.2: Prenatal Diagnosis of MMP21 -Related Disorder and Further Refine INSYN2A Involvement in the Postnatal Cognitive Phenotype.