logo
GENE THERAPY AWAITS APPROVAL IN EUROPE
RASOPATHY DIAGNOSIS ADVANCES
IN THIS ISSUE
Special Section. Syndrome-Specific Growth Charts
Growth Charts of Down Syndrome in Egypt: A Study of 434 Children 0–36 Months of Age
Growth Charts of Turkish Children With Down Syndrome
Syndrome-Specific Growth Charts for 22q11.2 Deletion Syndrome in Caucasian Children
Growth Charts for 22q11 Deletion Syndrome
Growth in Chilean Infants With Chromosome 22q11 Microdeletion Syndrome
Growth Curves of Egyptian Patients With Turner Syndrome
Normative Growth Charts for Individuals With Costello Syndrome
Growth Standards of Patients With Noonan and Noonan-Like Syndromes With Mutations in the RAS/MAPK Pathway
Growth Charts for Individuals with Smith–Lemli–Opitz Syndrome
Anthropometric Measurements in Egyptian Patients With Osteogenesis Imperfecta
Growth in Individuals With Majewski Osteodysplastic Primordial Dwarfism Type II Caused by Pericentrin Mutations
The Barth Syndrome Registry: Distinguishing Disease Characteristics and Growth Data From a Longitudinal Study
Meier–Gorlin Syndrome: Growth and Secondary Sexual Development of a Microcephalic Primordial Dwarfism Disorder
Development and Implementation of Electronic Growth Charts for Infants With Prader–Willi Syndrome
Three Unrelated Patients With Congenital Anterior Pituitary Aplasia and a Characteristic Physical and Neuropsychological Phenotype: A New Syndrome?
Aphonia, Microstomia, Deafness, Retinal Dystrophy, Duplicated Halluces and Intellectual Disability
Disease-Specific Databases: Why We Need Them and Some Recommendations From the Human Variome Project Meeting, May 28, 2011
2q24 Deletions: Further Characterization of Clinical Findings and Their Relation to the SCN Cluster
Apolipoprotein E Genotype and Neurological Disease Onset in Niemann–Pick Disease, Type C1
Overt Cleft Palate Phenotype and TBX1 Genotype Correlations in Velo-Cardio-Facial/Digeorge/22q11.2 Deletion Syndrome Patients
A Homozygous IER3IP1 Mutation Causes Microcephaly With Simplified Gyral Pattern, Epilepsy, and Permanent Neonatal Diabetes Syndrome (MEDS)
Central Nervous System Malformations and Deformations In FGFR2 -Related Craniosynostosis
Opposing Phenotypes in Mice With Smith–Magenis Deletion and Potocki–Lupski Duplication Syndromes Suggest Gene Dosage Effects on Fluid Consumption Behavior
Heterogeneous Growth Patterns in Carriers of Chromosome 7p12.2 Imbalances Affecting GRB10
Analysis of The WISP3 Gene in Indian Families With Progressive Pseudorheumatoid Dysplasia
Brain Arteriovenous Malformations Associated With Hereditary Hemorrhagic Telangiectasia: Gene–Phenotype Correlations
Death Rates in the U.S. Due to Krabbe Disease and Related Leukodystrophy and Lysosomal Storage Diseases
Polymorphic Haplotypes of CRELD1 Differentially Predispose Down Syndrome and Euploids Individuals to Atrioventricular Septal Defect
A Homozygous Balanced Reciprocal Translocation Suggests LINC00237 as a Candidate Gene for MOMO (Macrosomia, Obesity, Macrocephaly, and Ocular Abnormalities) Syndrome
Macrocephaly, Obesity, Mental (Intellectual) Disability, and Ocular Abnormalities: Alternative Definition and Further Delineation of MOMO Syndrome
A Rare Association of Fibromuscular Dysplasia, Renal Agenesis, Renal Arteriovenous Fistulae, and Vertebral Anomalies: Expanding the V in VACTERL Association
Risk for Ingestion of Toxic Substances in Children With Prader–Willi Syndrome
Nevus Vascularis Mixtus (Cutaneous Vascular Twin Nevi) Associated with Intracranial Vascular Malformation of the Dyke–Davidoff–Masson Type in Two Patients
An Inherited LMNA Gene Mutation in Atypical Progeria Syndrome
Unstable Transmission of a Familial Complex Chromosome Rearrangement
Grange Syndrome: An Identifiable Cause of Stroke in Young Adults
Atypical Findings in Three Patients with Pai Syndrome and Literature Review
Insertional Translocation of 15q25-q26 into 11p13 and Duplication at 8p23.1 Characterized by High Resolution Arrays in a Boy With Congenital Malformations and Aniridia
Marked Variability in the Radiographic Features of Cartilage-Hair Hypoplasia: Case Report and Review of the Literature
WDR35 Mutation in Siblings With Sensenbrenner Syndrome: A Ciliopathy With Variable Phenotype
12q14 Microdeletion Associated With HMGA2 Gene Disruption and Growth Restriction
Incidental Finding of Alpha-Methylacyl-CoA Racemase Deficiency in a Patient With Oculocutaneous Albinism Type 4
Re-Assigned Diagnosis of D4ST1-Deficient Ehlers-Danlos Syndrome (Adducted Thumb-Clubfoot Syndrome) After Initial Diagnosis of Marden-Walker Syndrome
Growth Retardation, Intellectual Disability, Facial Anomalies, Cataract, Thoracic Hypoplasia, and Skeletal Abnormalities: A Novel Phenotype
Osteopathia Striata With Cranial Sclerosis and Developmental Delay in a Male With a Mosaic Deletion in Chromosome Region Xq11.2
A New Report of Cornelia de Lange Syndrome Associated With Split Hand and Feet
Sleep-Disordered Breathing in Beckwith–Wiedemann Syndrome: Three Patients
Haploinsufficiency of STK11 and Neighboring Genes Cause a Contiguous Gene Syndrome Including Peutz–Jeghers Phenotype
Additional Case of an Uncommon 22q11.2 Reciprocal Rearrangement in a Phenotypically Normal Mother of Children With 22q11.2 Deletion and 22q11.2 Duplication Syndromes
Recurrence of Osteogenesis Imperfecta Due to Maternal Mosaicism of a Novel COL1A1 Mutation
GPSM2 Mutations in Chudley–McCullough Syndrome
MGAT2-CDG (CDG-IIa) and Dysmorphism
MGAT2-CDG (CDG-IIa) and Dysmorphism
The Signature of Craniofacial Deformation in Fibrodysplasia Ossificans Progressiva
The Complex Craniofacial Signature of Fibrodysplasia Ossificans Progressiva: Whose Handwriting Is It?