Hornstein–Birt–Hogg–Dubé Syndrome: A Renaming and Reconsideration † ‡
Primary Osteoporosis Without Features of OI in Children and Adolescents: Clinical and Genetic Characteristics †
Apparent Transmission Distortion of a Pericentric Chromosome One Inversion in a Large Multi-Generation Pedigree †
Quality of Life in Patients With Hereditary Hemorrhagic Telangiectasia in Norway: A Population Based Study †
Rare Copy Number Variants in Isolated Sporadic and Syndromic Atrioventricular Septal Defects †
Characterization of Six Novel Patients With MECP2 Duplications Due to Unbalanced Rearrangements of the X Chromosome †
The Incidence of Hypoplasia of the Corpus Callosum in Patients With dup (X)(q28) Involving MECP2 Is Associated With the Location of Distal Breakpoints †
Hypertension in FMR1 Premutation Males With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) † ‡
Informed Consent for Whole Genome Sequencing: A Qualitative Analysis of Participant Expectations and Perceptions of Risks, Benefits, and Harms †
Salivary Gland Pathology as a New Finding in Treacher Collins Syndrome † ‡
Aging in Prader–Willi Syndrome: Twelve Persons Over the Age of 50 Years †
Ambiguous Genitalia: What Prenatal Genetic Testing Is Practical? †
Extracellular Matrix and Platelet Function in Patients With Musculocontractural Ehlers–Danlos Syndrome Caused by Mutations in the CHST14 Gene † ‡
Women's Knowledge, Attitudes, and Beliefs About Down Syndrome: A Qualitative Research Study †
Candidate Locus Analysis for PHACE Syndrome † ‡
The Face Signature of Fibrodysplasia Ossificans Progressiva †
Variability in Expression of a Familial 2.79 Mb Microdeletion in Chromosome14q22.1–22.2 †
Brain Abnormalities in Patients With Beckwith–Wiedemann Syndrome † ‡
Delineation of the Interstitial 6q25 Microdeletion Syndrome: Refinement of the Critical Causative Region †
Simplified Gyral Pattern With Cerebellar Hypoplasia in Sedaghatian Type Spondylometaphyseal Dysplasia: A Clinical Report and Review of the Literature †
Extensive Abdominal Lipomatosis in a Patient With Noonan/LEOPARD Syndrome (Noonan Syndrome–Multiple Lentigines) †
Noonan Syndrome Due to a SHOC2 Mutation Presenting With Fetal Distress and Fatal Hypertrophic Cardiomyopathy in a Premature Infant † ‡
A Rasopathy Phenotype With Severe Congenital Hypertrophic Obstructive Cardiomyopathy Associated With a PTPN11 Mutation and a Novel Variant in SOS1 †
A Co-Occurrence of Osteogenesis Imperfecta Type VI and Cystinosis †
14q13.1-21.1 Deletion Encompassing the HPE8 Locus in an Adolescent With Intellectual Disability and Bilateral Microphthalmia, But Without Holoprosencephaly †
Wiedemann–Rautenstrauch Syndrome: Report of a Variant Case †
Typical Renal-Coloboma Syndrome Phenotype in a Patient With a Submicroscopic Deletion of the PAX2 Gene †
Familial Distal Monosomy 3p26.3-pter With Trisomy 4q32.2-qter, Presenting With Progressive Ataxia, Intellectual Disability, and Dysmorphic Features †
Long-Term Survival With Diaphanospondylodysostosis (DSD): Survival to 5 Years and Further Phenotypic Characteristics †
Novel Clinical Findings in a Case of Postnatally Diagnosed Trisomy 12 Mosaicism †
Expanding the Phenotypic and Mutational Spectrum in Microcephalic Osteodysplastic Primordial Dwarfism Type I †
Familial Xp22.33-Xp22.12 Deletion Delineated by Chromosomal Microarray Analysis Causes Proportionate Short Stature † ‡
Confirmation of the Zechi-Ceide Syndrome †
Asymmetric Polymicrogyria and Periventricular Nodular Heterotopia Due to Mutation in ARX † ‡
Growth Hormone Secretion and its Effect on Height in Pediatric Patients With Different Genotypes of Prader–Willi Syndrome †
Germline Mosaicism in Cornelia de Lange Syndrome † ‡
A Girl With Two Syndromes: Turner Syndrome and Costello Syndrome. A Case History †
FG Syndrome: The FGS2 Locus Revisited †
De Novo Duplication and Deletions at 7q in a Three-Generation Family † ‡
Complex 9p Rearrangement in an XY Patient With Ambiguous Genitalia and Features of Both 9p Duplication and Deletion †
Risk of Cancer in Relatives of Children Born With Isolated Cleft Lip and Palate †
The Idic(15) Syndrome: Expanding the Phenotype † ‡
Discordant Monozygotic Twins for Macrocephaly-Capillary Malformation †
Deletion of Filamin A in Two Female Patients With Periventricular Nodular Heterotopia †
Book Review: DEVELOPMENTAL BIOLOGY Ed 9 by SF, Gilbert MA, Sunderland Sinauer Associates. ISBN: 978-0-87893-384-6†
Clarification of Intellectual Abilities in Patients With GLI2 Mutations Cited by Kevelam et al., 2012 Am J Med Genet Part A †
Mutations of SMAD4 Account for both LAPS and Myhre Syndromes † ‡