TALKING ABOUT DOWN SYNDROME
TIPS FOR DISCUSSING DS
ECONOMY THREATENS GENETIC COUNSELING EDUCATION
A3243G MUTANT LOAD NOT HELPFUL IN MELAS
KCNJ3 GENE APPEARS UNRELATED TO AUTISTIC SPECTRUM DISORDER
H6 FAMILY HOMEOBOX GENE DELETIONS MIGHT CAUSE INNER EAR PROBLEMS
Laminopathies, Other Progeroid Disorders, and Aging: Common Pathogenic Themes and Possible Treatments
Ovarian Failure and Dilated Cardiomyopathy Due to a Novel Lamin Mutation
The Phenotype of Persons Having Mosaicism for Trisomy 21/Down Syndrome Reflects the Percentage of Trisomic Cells Present in Different Tissues
Longitudinal Changes of mtDNA A3243G Mutation Load and Level of Functioning in MELAS
Mapping of Partially Overlapping de novo Deletions Across An Autism Susceptibility Region ( AUTS5 ) in Two Unrelated Individuals Affected by Developmental Delays With Communication Impairment
A Patient With Early Onset Huntington Disease and Severe Cerebellar Atrophy
Quality of Life and Psychological Distress in Hypertrophic Cardiomyopathy Mutation Carriers: A Cross-Sectional Cohort Study
Prosaposin Deficiency and Saposin B Deficiency (Activator-Deficient Metachromatic Leukodystrophy): Report on Two Patients Detected by Analysis of Urinary Sphingolipids and Carrying Novel PSAP Gene Mutations
The c.940G Variant of the Microcephalin ( MCPH1 ) Gene Is Not Associated With Microcephaly or Mental Retardation
Fragile X Screening: Attitudes of Genetic Health Professionals
A Novel Genetic Syndrome Characterized by Pediatric Cataract, Dysmorphism, Ectodermal Features, and Developmental Delay in an Indigenous Australian Family
Epidemiology of Acephalus/Acardius Monozygotic Twins: New Insights Into an Epigenetic Causal Hypothesis
Genetic Heterogeneity in Two Consanguineous Families Segregating Early Onset Retinal Degeneration: The Pitfalls of Homozygosity Mapping
The Missense Mutation G12D in Connexin30.3 Can Cause Both Erythrokeratodermia Variabilis of Mendes da Costa and Progressive Symmetric Erythrokeratodermia of Gottron
Allelic Heterogeneity in Inbred Populations: The Saudi Experience With Alström Syndrome as an Illustrative Example
Caloric Restriction in Alström Syndrome Prevents Hyperinsulinemia
Molecular (SNP) Analyses of Overlapping Hemizygous Deletions of 10q25.3 to 10qter in Four Patients: Evidence for HMX2 and HMX3 as Candidate Genes in Hearing and Vestibular Function
Connexin Mutations in Brazilian Patients With Skin Disorders With or Without Hearing Loss
New Evidence for the Correlation of the p.G130V Mutation in the GJB2 Gene and Syndromic Hearing Loss With Palmoplantar Keratoderma
A de novo GJB2 (Connexin 26) Mutation, R75W, in a Chinese Pedigree With Hearing Loss and Palmoplantar Keratoderma
Gardner-Silengo-Wachtel or Genito-Palato-Cadiac Syndrome With Associated Autosomal Aneuploidy
An Unusual Presentation of Ehlers–Danlos Syndrome Vascular Type With Deep Vein Thrombosis: A Case for Multidisciplinary Management
Two Distinctive Classic Genetic Syndromes, 22q11.2 Deletion Syndrome and Angelman Syndrome, Occurring Within the Same Family
2q31.2q32.3 Deletion Syndrome: Report of an Adult Patient
A Novel Syndrome With Psychiatric Features and Review of Malformation Syndromes With Psychiatric Disorders
A Novel Mutation in the X-Linked Cyclin-Dependent Kinase-Like 5 ( CDKL5 ) Gene Associated With a Severe Rett Phenotype
Body Fat Excess and Stimulated Growth Hormone Levels in Adult Patients With Prader–Willi Syndrome
An Intergenerational Contraction of a Fully Penetrant Huntington Disease Allele to a Reduced Penetrance Allele: Interpretation of Results and Significance for Risk Assessment and Genetic Counseling
Multiple Joint Dislocations: An Additional Skeletal Finding in Lowry–Wood Syndrome?
Postnatal Testicular Regression Mircopenis and Microcephaly: Conformation of a New Syndrome?
Autosomal Dominant Inheritance in a Large Family With Focal Facial Dermal Dysplasia (Brauer–Setleis Syndrome)
Molecular Cytogenetic Characterization of an Interstitial De Novo 13q Deletion in a 3-Month-Old With Severe Pediatric Gastroesophageal Reflux
A Patient With Baller–Gerold Syndrome and Midline NK/T Lymphoma
Xq13.2q21.1 Duplication Encompassing the ATRX Gene in a Man With Mental Retardation, Minor Facial and Genital Anomalies, Short Stature and Broad Thorax
Familial Upper Eyelid Coloboma With Ipsilateral Anterior Hairline Abnormality: Two New Reports of MOTA Syndrome
HDR Syndrome: A Novel “de novo” Mutation in GATA3 Gene
Germinal Mosaicism of GATA3 in a Family With HDR Syndrome
Polyhydramnios, Fetal Overgrowth, and Macrocephaly: Prenatal Ultrasound Findings of Costello Syndrome
Prenatal Diagnosis of Costello Syndrome Using 3D Ultrasonography Amniocentesis Confirmation of the Rare HRAS Mutation G12D
Cone-Rod Dystrophy, Growth Hormone Deficiency and Spondyloepiphyseal Dysplasia: Report of a New Case Without Nephronophtisis
Inverted Duplication of 1q32.1 to 1q44 Characterized by Array CGH and Review of Distal 1q Partial Trisomy
LAPS Syndrome and Myhre Syndrome: Two Disorders or One?
Isolated Familial Posterior Earlobe Indentations
GAPO Syndrome With the Novel Features of Pulmonary Hypertension, Ankyloglossia, and Prognathism
RNF135 Mutations Are Not Present in Patients With Sotos Syndrome-Like Features
Homozygous Structural Rearrangement 16p13: A Mechanism of Tumorigenesis in Sporadic Renal Angiomyolipoma?
Somatic Mosaicism for the SALL1 Mutation p.Ser371X in Full-Blown Townes–Brocks Syndrome With Duane Anomaly
A ZRS Duplication Causes Syndactyly Type IV With Tibial Hypoplasia
Interventions to Improve Patient Education Regarding Multifactorial Genetic Conditions: A Systematic Review
DAVENPORT'S DREAM: 21ST CENTURY REFLECTIONS ON HEREDITY AND EUGENICS
Obesity Syndrome, MOMES Caused by Deletion–Duplication (4q35.1 del and 5p14.3 dup)