Editorial Comment on the Continuing Importance of Single Case Reports
Regarding the Ongoing Discussion About the Reporting of Single Cases
Bipolar Affective Disorder Associated With 11q24.2 Disruption—A Second Report
The PDAC Syndrome (Pulmonary Hypoplasia/Agenesis, Diaphragmatic Hernia/Eventration, Anophthalmia/Microphthalmia, and Cardiac Defect) (Spear Syndrome, Matthew-Wood Syndrome): Report of Eight Cases Including a Living Child and Further Evidence for Autosomal Recessive Inheritance
A Newly Recognized Craniosynostosis Syndrome With Features of Aarskog-Scott and Teebi Syndromes
Cornelia de Lange Syndrome: Clinical Review, Diagnostic and Scoring Systems, and Anticipatory Guidance
INTRODUCTION
OVERVIEW AND NATURAL HISTORY OF CORNELIA DE LANGE SYNDROME
UPDATE ON MOLECULAR STUDIES IN CORNELIA DE LANGE SYNDROME
ROBERTS SYNDROME-SC PHOCOMELIA: CLINICAL AND MOLECULAR FINDINGS
ROLES OF DROSOPHILA NIPPED-B AND SISTER CHROMATID COHESION PROTEINS IN GENE EXPRESSION AND DEVELOPMENT
MULTI-ORGAN SYSTEM DEFECTS IN A MOUSE MODEL OF CORNELIA DE LANGE SYNDROME
SELF-INJURIOUS BEHAVIOR IN CORNELIA DE LANGE AND CRI DU CHAT SYNDROMES: ASSOCIATIONS WITH PERIPHERAL SENSORY NEUROPATHY AND SOCIAL INTERACTIONS
BEHAVIORAL PHENOTYPE OF CORNELIA DE LANGE SYNDROME
UPDATE ON EYE FINDINGS IN CORNELIA DE LANGE SYNDROME
A ZEBRA FISH MODEL FOR CORNELIA DE LANGE SYNDROME
STRUCTURE AND FUNCTION OF THE DROSOPHILA NIPPED-B GENE
CDLS FAMILIES AND FOUNDATION: HISTORICAL OVERVIEW AND DATABASE
MOLECULAR AND CYTOGENETIC STUDIES IN CORNELIA DE LANGE SYNDROME
MOLECULAR INTERACTIONS OF NIPBL IN CORNELIA DE LANGE SYNDROME
IDENTIFICATION OF A DISTINCT PRENATAL PROFILE FOR CORNELIA DE LANGE SYNDROME BASED ON THE REVIEW OF 35 PRENATAL CASES
UPDATE ON FEEDING ISSUES IN INDIVIDUALS WITH CORNELIA DE LANGE SYNDROME
COMMUNICATION CHARACTERISTICS IN THE CORNELIA DE LANGE SYNDROME
OSTEOPOROSIS AND EVIDENCE FOR EARLY AGING IN CORNELIA DE LANGE SYNDROME
Physiologic Noise Obscures Genotype-Phenotype Correlations
Colobomatous Macrophthalmia With Microcornea Syndrome Maps to the 2p23-p16 Region
Comprehensive EMX2 Genotyping of a Large Schizencephaly Case Series
Oculo-Auriculo-Vertebral Spectrum: Associated Anomalies, Functional Deficits and Possible Developmental Risk Factors
Associations of Osseous Abnormalities in Neurofibromatosis 1
dup(8p)/del(8q) Recombinant Chromosome in a Girl With Hepatic Focal Nodular Hyperplasia
Chorea Associated With Antiphospholipid Antibodies in a Patient With Kabuki Syndrome
Fortuitous FISH Diagnosis of an Interstitial Microdeletion (5)(q31.1q31.2) in a Girl Suspected to Present a Cri-Du-Chat Syndrome
Detection of a de novo Interstitial 2q Microdeletion by CGH Microarray Analysis in a Patient With Limb Malformations, Microcephaly and Mental Retardation
Interstitial Deletion of 6q Without Phenotypic Effect
Chromosomal Microarray Analysis (CMA) Detects a Large X Chromosome Deletion Including FMR1 , FMR2 , and IDS in a Female Patient With Mental Retardation
Report of a Child With a Complete de novo 17p Duplication Localized to the Terminal Region of the Long Arm of Chromosome 17
Expanding Spectrum of Congenital Disorder of Glycosylation Ig (CDG-Ig): Sibs With a Unique Skeletal Dysplasia, Hypogammaglobulinemia, Cardiomyopathy, Genital Malformations, and Early Lethality
Hepatic Vascular Malformation in a Patient With Simpson–Golabi–Behmel Syndrome
Fetal and Maternal CYP2E1 Genotypes and the Risk of Nonsyndromic Oral Clefts
DNA Demethylation Reactivation of Imprinted Genes in Cell Lines From Patients With Prader-Willi Syndrome and a Mouse Model
A Triploid Fetus Further Expands Etiological Heterogeneity in Holoprosencephaly-Diencephalic Hamartoblastoma
A New Case of Spondyloenchondrodysplasia With Immune Dysregulation Confirms the Pleiotropic Nature of the Disorder: Comment on “A Syndrome of Immunodeficiency, Autoimmunity, and Spondylometaphyseal Dysplasia” by M.L. Kulkarni, K. Baskar, and P.M. Kulkarni [2006],