| Transition to virtual clinic: Experience in a multidisciplinary clinic for Down syndrome |
|
|
|
|
|
|
|
|
|
| Corrigendum Neurocutaneous syndromes in Art and Antiquities. Am J Med Genet C. 2021;187(2):224–234. Doi:10.1002/ajmg.c.31917 |
|
|
|
|
|
|
|
|
|
| Publication schedule for 2021 |
|
|
|
|
|
|
|
|
|
| Cover Image, Volume 187, Number 4, December 2021 |
|
|
|
|
|
|
|
|
|
| Table of Contents, Volume 187, Number 4, December 2021 |
|
|
|
|
|
|
|
|
|
| Parental perceptions of bladder dysfunction in children with symptomatic joint hypermobility |
|
|
|
✓ |
|
|
|
|
|
| Orthopedic considerations and surgical outcomes in Ehlers–Danlos syndromes |
|
|
|
|
|
|
|
|
|
| Initial description and evaluation of EDS ECHO: An international effort to improve care for people with the Ehlers‐Danlos syndromes and hypermobility spectrum disorders |
|
|
|
|
|
|
|
|
|
| Throat and voice problems in<scp>Ehlers–Danlos</scp>syndromes and hypermobility spectrum disorders |
|
|
|
|
|
|
|
|
|
| Urogynaecology and <scp>Ehlers–Danlos</scp> syndrome |
|
|
|
|
|
|
|
|
|
| Respiratory manifestations in the <scp>Ehlers–Danlos</scp> syndromes |
|
|
|
|
|
|
|
|
|
| Updates on the psychological and psychiatric aspects of the Ehlers–Danlos syndromes and hypermobility spectrum disorders |
|
|
|
|
|
|
|
|
|
| Variant connective tissue (joint hypermobility) and dysautonomia are associated with multimorbidity at the intersection between physical and psychological health |
|
|
|
|
|
|
|
|
|
| Pain in the Ehlers–Danlos syndromes: Mechanisms, models, and challenges |
|
|
|
|
|
|
|
|
|
| <scp>Ehlers–Danlos</scp> syndromes, hypermobility spectrum disorders, and associated <scp>co‐morbidities</scp>: Reports from <scp>EDS ECHO</scp> |
|
|
|
|
|
|
|
|
|
| Obstetrics and gynecology in <scp>Ehlers‐Danlos</scp> syndrome: A brief review and update |
|
|
|
|
|
|
|
|
|
| A <scp>case–control</scp> study of respiratory medication and <scp>co‐occurring</scp> gastrointestinal prescription burden among persons with <scp>Ehlers–Danlos</scp> syndromes |
|
|
|
|
|
|
|
|
|
| Dysautonomia in the <scp>Ehlers–Danlos</scp> syndromes and hypermobility spectrum disorders—With a focus on the postural tachycardia syndrome |
|
|
|
|
|
|
|
|
|
| Oral manifestations of <scp>Ehlers‐Danlos</scp> syndromes |
|
|
|
|
|
|
|
|
|
| Neurodevelopmental atypisms in the context of joint hypermobility, hypermobility spectrum disorders, and<scp>Ehlers–Danlos</scp>syndromes |
|
|
|
|
|
|
|
|
|
| Advances in assessment of hypermobility‐related disorders |
|
|
|
|
|
|
|
|
|
| Fascial thickness and stiffness in hypermobile <scp>Ehlers‐Danlos</scp> syndrome |
|
|
|
|
|
|
|
|
|
| Overlap between irritable bowel syndrome and hypermobile<scp>Ehlers–Danlos</scp>syndrome: An unexplored clinical phenotype? |
|
|
|
|
|
|
|
|
|
| The power of patient‐led global collaboration |
|
|
|
|
|
|
|
|
|
| Surgical treatment of abdominal compression syndromes: The significance of hypermobility‐related disorders |
|
|
|
|
|
|
|
|
|
| High rate of dyspareunia and probable vulvodynia in <scp>Ehlers–Danlos</scp> syndromes and hypermobility spectrum disorders: An online survey |
|
|
|
✓ |
|
|
|
|
|
| Mast cell activation disease and immunoglobulin deficiency in patients with hypermobile <scp>Ehlers‐Danlos</scp> syndrome/hypermobility spectrum disorder |
|
|
|
|
|
|
|
|
|
| Some cases of hypermobile <scp>Ehlers–Danlos</scp> syndrome may be rooted in mast cell activation syndrome |
|
|
|
|
|
|
|
|
|
| Table of Contents, Volume 187C, Number 3, September 2021 |
|
|
|
|
|
|
|
|
|
| Cover Image, Volume 187C, Number 3, September 2021 |
|
|
|
|
|
|
|
|
|
| Publication schedule for 2021 |
|
|
|
|
|
|
|
|
|
| Molecular characterization of mucopolysaccharidosis type <scp>IVA</scp> patients in the Andean region of Colombia |
|
|
|
|
|
|
|
|
|
| Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias |
|
|
|
|
|
|
|
|
|
| Patients with<scp>Ehlers–Danlos</scp>syndrome on the diagnostic odyssey: Rethinking complexity and difficulty as a hero's journey |
|
|
|
|
|
|
|
|
|
| Clinical trials for genetic diseases in Latin America |
|
|
|
|
|
|
|
|
|
| Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile |
|
|
|
|
|
|
|
|
|
| Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients |
|
|
|
|
|
|
|
|
|
| Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals |
|
|
|
|
|
✓ |
|
|
European ancestry; non‑European local ancestries; non‑European individuals |
| Publication schedule for 2021 |
|
|
|
|
|
|
|
|
|
| Cover Image, Volume 187, Number 2, June 2021 |
|
|
|
|
|
|
|
|
|
| Table of Contents, Volume 187, Number 2, June 2021 |
|
|
|
|
|
|
|
|
|
| Syndromes and birth defects in art and antiquities: New perspectives on a familiar theme |
|
|
|
|
|
|
|
|
|
| Arachnodactyly represented in art |
|
|
|
|
|
|
|
|
|
| Neurocutaneous syndromes in art and antiquities |
|
|
|
|
|
|
|
|
|
| The discipline of dysmorphology and the beauty of art |
|
|
|
|
|
|
|
|
|
| The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disorders |
|
|
|
|
|
|
|
|
|
| The Clubfoot, Le Pied‐Bot |
|
|
|
|
|
|
|
|
|
| Literature review: Genetic conditions or anomalies in artworks |
|
|
|
|
|
|
|
|
|
| A case of macrosomia and macroglossia, likely Beckwith‐Wiedemann syndrome from 1628 |
|
|
|
|
|
|
|
|
|
| Mythological figures in art and genetics: Current perspectives on cyclopia and chimerism |
|
|
|
|
|
|
|
|
|
| Can a Christ child have Down syndrome? |
|
|
|
|
|
|
|
|
|
| Cross‐cultural representations of conjoined twins |
|
|
|
|
|
|
|
|
|
| The art of Robert J. Gorlin, DDS, MS |
|
|
|
|
|
|
|
|
|
| In search of the earliest images of symmelia in works of art |
|
|
|
|
|
|
|
|
|
| Genetic and congenital disorders in pre‐Hispanic Moche pottery |
|
|
|
|
|
|
|
|
|
| The stories behind the art—Malformations and Hindu mythology |
|
|
|
|
|
|
|
|
|
| Overgrowth in myth and art |
|
|
|
|
|
|
|
|
|
| Tribute to my sister: A new look at the X and O of Turner syndrome |
|
|
|
|
|
|
|
|
|
| The person looking out |
|
|
|
|
|
|
|
|
|
| A painting of the Christ Child with bowed legs: Rickets in the Renaissance |
|
|
|
|
|
|
|
|
|
| The observation of art and the art of observing individuals with physical differences |
|
|
|
|
|
|
✓ |
✓ |
ethnic variations |
| Skeletal dysplasias in art and antiquities: A cultural journey through genes, environment, and chance |
|
|
|
|
|
|
|
|
|
| Reflections on observing faces in art |
|
|
|
|
|
|
|
|
|
| The earliest depictions of a PIK3CA‐Related Overgrowth Spectrum disorder: 17th‐18th century prints of women with severe limb overgrowth |
|
|
|
|
|
|
|
|
|
| Depiction of Hāloa by Solomon Enos |
|
|
|
|
|
|
|
|
|
| Rejecting Gargoylism: Reflections on the term and its relationship to Hurler syndrome |
|
|
|
|
|
|
|
|
|
| The portrayal of people with dwarfism in Chinese art |
|
|
|
|
|
|
|
|
|
| Teaching healthcare professionals to see |
|
|
|
|
|
|
|
|
|
| Northwest Indigenous Art and the Inspiring Spirits |
|
|
|
|
|
|
|
|
|
| From the Luttrell Psalter to the Lobster Boy: Split hand and foot awaken many facets of human nature |
|
|
|
|
|
|
|
|
|
| Asymmetric faces: Symbolic, spiritual, and representative |
|
|
|
|
|
|
|
|
|
| Dutch teratological collections and their artistic portrayals |
|
|
|
|
|
|
|
|
|
| Reflections on Velázquez's “Don Baltasar Carlos with a Dwarf” |
|
|
|
|
|
|
|
|
|
| The Art of M. Michael Cohen, Jr. |
|
|
|
|
|
|
|
|
|
| Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome |
|
|
|
|
|
|
|
|
|
| Genetic testing to restore the human right to identity in post‐dictatorship Argentina: Ethical, legal, and social issues |
|
|
|
|
|
|
|
|
|
| Network‐based analysis using chromosomal microdeletion syndromes as a model |
|
|
|
|
|
|
|
|
|
| Newborn screening in <scp>Latin America</scp>: A brief overview of the state of the art |
|
|
|
|
|
|
|
|
|
| Publication schedule for 2021 |
|
|
|
|
|
|
|
|
|
| Cover Image, Volume 187, Number 1, March 2021 |
|
|
|
|
|
|
|
|
|
| Table of Contents, Volume 187, Number 1, March 2021 |
|
|
|
|
|
|
|
|
|
| Evolving technologies in medical genetics and genomics |
|
|
|
|
|
|
|
|
|
| Leveraging population‐based exome screening to impact clinical care: The evolution of variant assessment in the <scp>Geisinger MyCode</scp> research project |
|
|
|
|
|
|
|
|
|
| Digital peer‐to‐peer information seeking and sharing: Opportunities for education and collaboration in newborn screening |
|
|
|
|
|
|
|
|
|
| <scp>SARS‐CoV</scp>‐2 pandemic in the Brazilian community of rare diseases: A patient reported survey |
|
|
|
|
|
|
|
|
|
| Building an infrastructure to enable delivery of genomic medicine |
|
|
|
|
|
|
|
|
|
| Pediatric medical genetics house call: Telemedicine for the next generation of patients and providers |
|
|
|
|
|
|
|
|
|
| Description and results of birth defects surveillance and follow‐up programs in <scp>Bogotá and Cali, Colombia</scp>, 2002–2019 |
|
|
|
|
|
|
|
|
|