Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Lauren Mohnach"'
Autor:
DSD-TRN Endocrine & Genetics Working Groups, Courtney Finlayson, Catherine Keegan, Lauren Mohnach, Phyllis Speiser, Deepa Mathew, Meilan Rutter, Tara Schafer-Kalkhoff, Alicia Diaz-Thomas, J Whitehead
Publikováno v:
Journal of the Endocrine Society. 6:A617-A618
Objectives The 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) enzyme, expressed in the testes, converts androstenedione to testosterone. Deficiency of 17βHSD3 causes a 46,XY difference of sex development (DSD). Until recently, just 12 cases of
Publikováno v:
Endocrine
PURPOSE: To define, benchmark, and publicize elements of quality care (i.e., “good practices”) for pediatric patients with disorders/differences of sex development (DSD). METHODS: Principles of quality care were identified by literature review; c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::877e1006ac8fdce8f84ac327862493ce
https://europepmc.org/articles/PMC8325784/
https://europepmc.org/articles/PMC8325784/
Autor:
Emmanuèle C. Délot, Jeanette C. Papp, David E. Sandberg, Eric Vilain, Michelle Fox, Wayne Grody, Hane Lee, Catherine Keegan, Linda Ramsdell, Janet Green, Hayk Barseghyan, Naghmeh Dorrani, Lauren Mohnach, Margaret A. Pearson, Jullianne Diaz, Eyby Leon, Robert J. Hopkin, Jodie Johnson, Howard Saal, Ina Amarillo, Margaret Adam
Publikováno v:
Endocrinology and Metabolism Clinics of North America. 46:519-537
Although many next-generation sequencing platforms are being created around the world, implementation is facing multiple hurdles. A strong hurdle to the full adherence of clinical teams to the Disorders of Sex Development Translational Research Netwo
Autor:
Hayk Barseghyan, Lauren Mohnach, Andrea Granados, Catherine E. Keegan, Elisabeth H. Quint, Eric Vilain, Ming Chen, Harry Ostrer, Veronica I. Alaniz
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 175:253-259
Investigation of disorders of sex development (DSD) has resulted in the discovery of multiple sex-determining genes. MAP3K1 encodes a signal transduction regulator in the sex determination pathway and is emerging as one of the more common genes respo
Autor:
Lauren Mohnach, John M. Park, Margarett Shnorhavorian, Patricia Y. Fechner, Linda Ramsdell, Ming Chen, Catherine E. Keegan, Elizabeth McCauley, Margaret P. Adam, Heather M. Byers, Anne Marie E. Amies Oelschlager, David E. Sandberg, Inas H. Thomas
Publikováno v:
Journal of Urology. 200:685-687
Sex assignment at birth remains one of the most clinically challenging and controversial topics in 46,XY disorders of sexual development (DSD). This is particularly challenging in deficiency of 5-alpha reductase type 2 given that external genitalia a
Publikováno v:
Case Reports in Perinatal Medicine. 8
Background A discrepancy between the fetal karyotype and the appearance of genitalia on ultrasound can be a diagnostic challenge. In these cases, it is difficult to shorten the extensive list of differential diagnoses without information on internal
Autor:
Sainan Wei, Elisabeth H. Quint, Lauren E. Hipp, Inas H. Thomas, Lauren Mohnach, David E. Sandberg, Catherine E. Keegan, Maha E. Elhassan
Publikováno v:
American Journal of Medical Genetics Part A. 170:233-238
Carriers of isodicentric Y (idicY) mosaicism exhibit a wide range of clinical features, including short stature, gonadal abnormalities, and external genital anomalies. However, the phenotypic spectrum for individuals carrying an idicY and a 46, XX ce
Autor:
David E. Sandberg, Lauren Mohnach, Aimee M. Rolston, Emmanuèle Délot, Eric Vilain, Melissa Gardner, Catherine E. Keegan, Kathleen van Leeuwen
Following the principles of care recommended in the 2006 Consensus Statement on Disorders of Sex Development (DSD), along with input from representatives of peer support and advocacy groups, this study surveyed DSD clinical management practices at he
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1deafa6511bb33bf572e86f7bd709b0f
https://europepmc.org/articles/PMC5479330/
https://europepmc.org/articles/PMC5479330/
Autor:
Andrea Granados, Ming Chen, Lauren Mohnach, Veronica I. Alaniz, Catherine E. Keegan, Elisabeth H. Quint
Publikováno v:
Journal of Pediatric and Adolescent Gynecology. 28:e71-e72
Autor:
Lauren Mohnach, Richard J. Auchus, David E. Sandberg, Veronica I. Alaniz, Catherine E. Keegan, Elisabeth H. Quint
Publikováno v:
Journal of Pediatric and Adolescent Gynecology. 29:170