Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Jodi D Hoffman"'
Autor:
Dina Zielinski, Barak Markus, Mona Sheikh, Melissa Gymrek, Clement Chu, Marta Zaks, Balaji Srinivasan, Jodi D Hoffman, Dror Aizenbud, Yaniv Erlich
Publikováno v:
PLoS ONE, Vol 9, Iss 5, p e96788 (2014)
Hemifacial microsomia (HFM) is the second most common facial anomaly after cleft lip and palate. The phenotype is highly variable and most cases are sporadic. We investigated the disorder in a large pedigree with five affected individuals spanning ei
Externí odkaz:
https://doaj.org/article/3962f316f8ce4b5fb35f0fb513947cd5
Publikováno v:
Journal of Clinical and Translational Endocrinology Case Reports, Vol 7, Iss , Pp 5-7 (2018)
Objective: To review a case of differences of sexual differentiation (DSD) in an adult female patient and highlight the potential challenges and complexity in diagnosing and managing these conditions. Methods: We review a case of a 21-year-old 46, XY
Externí odkaz:
https://doaj.org/article/37e2b8f8bec346fdb68f1bc8be0231bc
Autor:
Brad Angle, Rotem Ben-Shachar, Gabriel A. Lazarin, Allison L. Goetsch, Katherine Johansen Taber, Jeanine Schulze, Jodi D. Hoffman, Aishwarya Arjunan, Jennifer Tarpinian, Pilar L. Magoulas, Richard Dineen, Raul Torres, Holly Bellerose, Andrea M. Lewis, Jessica A Bucher, Robert Nathan Slotnick, Kelly Bontempo, Brittany N. Simpson
Publikováno v:
Prenatal Diagnosis
BackgroundSeverity is an important factor for inclusion of diseases on expanded carrier screening (ECS) panels. Here, we applied a validated algorithm that objectively classifies diseases into severity categories to 176 genes on a clinically availabl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18426e3fabdbc18c0008742a00fc518b
http://europepmc.org/articles/PMC7540025
http://europepmc.org/articles/PMC7540025
Autor:
Janey L. Wiggs, Inderneel Sahai, Eric D. Gaier, Brian McGeeney, Crandall E. Peeler, Jodi D. Hoffman
Publikováno v:
Ophthalmic Genet
PURPOSE: To describe and distinguish clinical phenotypes with the overlapping feature of optic atrophy caused by distinct mutations in the same gene, OPA3. We report 3 affected siblings in a consanguineous family harboring a novel OPA3 mutation causi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f06693f3ca63157f03ffe46cec826d8d
https://doi.org/10.1080/13816810.2019.1711428
https://doi.org/10.1080/13816810.2019.1711428
Publikováno v:
European Heart Journal: Case Reports
Background While left-sided congenital heart defects have been well described in females with Turner syndrome (45, X), the literature is scarce regarding arrhythmias in this patient population. Case summary A full-term neonate referred to cardiology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d76f1bec293f4585fab5b01548af2c7
https://doi.org/10.1093/ehjcr/ytab160
https://doi.org/10.1093/ehjcr/ytab160
Publikováno v:
MedEdPORTAL, Vol 15 (2020)
MedEdPORTAL : the Journal of Teaching and Learning Resources
MedEdPORTAL : the Journal of Teaching and Learning Resources
Introduction Advances in genomic medicine contribute to increased demand for clinical genetics services and require physicians to understand the interprofessional practice of this field. Medical students receive a foundation in genetics during precli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccefd348ef55e26d7545e41abb17a8be
http://www.mededportal.org/doi/10.15766/mep_2374-8265.10869
http://www.mededportal.org/doi/10.15766/mep_2374-8265.10869
Autor:
James O'Leary, Robert G. Best, Lynn Wein Bush, David Flannery, Joshua L. Deignan, Reed E. Pyeritz, David T. Miller, Jodi D. Hoffman, Ingrid A. Holm, Leslie Manace Brenman, Karen L. David
Publikováno v:
Genetics in Medicine. 21:769-771
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d4db96b336ebc03290fa71d07e99cad7
https://doi.org/10.1038/s41436-018-0391-z
https://doi.org/10.1038/s41436-018-0391-z
Publikováno v:
Clin Genet
The Ehlers-Danlos syndromes (EDS) and associated hypermobility spectrum disorders (HSD) are a heterogenous group of connective tissue disorders associated with significant morbidity. The urogenital aspects of these disorders are understudied and ther
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::631373984fff5f0b1756fab04aa42c26
https://pubmed.ncbi.nlm.nih.gov/31420870
https://pubmed.ncbi.nlm.nih.gov/31420870
Publikováno v:
Clinical Dysmorphology. 24:128-131
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5dcb0fcbc02f85492c09d65e874fe73
https://doi.org/10.1097/mcd.0000000000000084
https://doi.org/10.1097/mcd.0000000000000084