Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Lynn P. Chorich"'
Autor:
Durkadin Demir Eksi, Yiping Shen, Munire Erman, Lynn P. Chorich, Megan E. Sullivan, Meric Bilekdemir, Elanur Yılmaz, Guven Luleci, Hyung-Goo Kim, Ozgul M. Alper, Lawrence C. Layman
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-8 (2018)
Abstract Background Little is known about the genetic contribution to Müllerian aplasia, better known to patients as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Mutations in two genes (WNT4 and HNF1B) account for a small number of patients, but
Externí odkaz:
https://doaj.org/article/bcbb663442044972bea523c7d3c2c957
Autor:
Soumia Brakta, Zoe A. Hawkins, Nikhil Sahajpal, Natalie Seman, Dina Kira, Lynn P. Chorich, Hyung-Goo Kim, Hongyan Xu, John A. Phillips, Ravindra Kolhe, Lawrence C. Layman
Publikováno v:
Human Genetics. 142:483-494
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f47e5e58a6ab916df2d102968e4c5b25
https://doi.org/10.1007/s00439-023-02522-8
https://doi.org/10.1007/s00439-023-02522-8
Autor:
Lynn P Chorich, Michael P Diamond, Janet E Hall, Kenneth S Korach, Lawrence C Layman, Yin Li, Haitao Liu, Robert A Roman
Publikováno v:
Journal of the Endocrine Society. 6:A677-A678
Introduction Estrogen is vital to human reproduction and acts primarily through two receptors: estrogen receptor alpha (ERα, encoded by ESR1) and estrogen receptor beta (ERβ, encoded by ESR2). Surprisingly, very few human ESR1 pathogenic variants h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2e0007e947bbf754d342bff12a3236f0
https://doi.org/10.1210/jendso/bvac150.1401
https://doi.org/10.1210/jendso/bvac150.1401
Autor:
John A. Capra, Hugh S. Taylor, Sasha Mikhael, Madison Morton, Michael J. Friez, Amy C. Lossie, Lynn P. Chorich, Kerlene Berwick Tam, Souhrid Mukherjee, John A. Phillips, Lawrence C. Layman, Hyung-Goo Kim, James R. Knight, Sonal Dugar
Publikováno v:
Hum Genet
PURPOSE: Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome consists of congenital absence of the uterus and vagina and is often associated with renal, skeletal, cardiac, and auditory defects. The genetic basis is largely unknown except for rare v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::916da3560a481c5b164cb2ceb40c254c
https://pubmed.ncbi.nlm.nih.gov/33469725
https://pubmed.ncbi.nlm.nih.gov/33469725
Autor:
Janet E. Hall, Lynn P. Chorich, Adam B. Burkholder, Michael P. Diamond, Kenneth S. Korach, Sophia Halassy, Kerlene Bertwick Tam, Lawrence C. Layman, Sasha Mikhael
Publikováno v:
Journal of the Endocrine Society
Background: Unexplained or idiopathic infertility comprises approximately 30% of couples who present with infertility. This has led to investigations seeking to determine the cause(s) of this important diagnosis of exclusion. Estrogen’s role in rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90c852440c9055cab81ed05e8f3d5874
http://europepmc.org/articles/PMC7208208
http://europepmc.org/articles/PMC7208208
Autor:
Laurel A. Coons, Hyung-Goo Kim, John A. Katzenellenbogen, Kenneth S. Korach, Lynn P. Chorich, Janet E. Hall, Lawrence C. Layman, Soumia Brakta
Publikováno v:
J Clin Endocrinol Metab
ContextWe previously reported the first female with a causative ESR1 gene variant, who exhibited absent puberty and high estrogens. At age 15 years, she presented with lower abdominal pain, absent breast development, primary amenorrhea, and multicyst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d5205bf2010c2a54643c64a28a805b3
https://europepmc.org/articles/PMC7108680/
https://europepmc.org/articles/PMC7108680/
Autor:
Viji Sundaram, Megan E. Sullivan, Hyung-Goo Kim, J. Graham Theisen, Mary S. Filchak, Lawrence C. Layman, Lynn P. Chorich, James R. Knight
Publikováno v:
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019)
Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019)
Approximately 0.5–1.4% of natal males and 0.2–0.3% of natal females meet DSM-5 criteria for gender dysphoria, with many of these individuals self-describing as transgender men or women. Despite recent improvements both in social acceptance of tra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b590745150d8f112c7d45110cf1fec57
https://doi.org/10.1038/s41598-019-53500-y
https://doi.org/10.1038/s41598-019-53500-y
Autor:
Janet E. Hall, Lynn P. Chorich, Soumia Brakta, Kenneth Korach, Lawrence C. Layman, Laurel Coons, Hyung Goo Kim
Publikováno v:
Journal of the Endocrine Society
We previously reported the first female with a mutation in the ESR1 gene encoding estrogen receptor-α (ER-α), which dramatically reduced estrogen signaling in vitro. She presented at 179/12 years with absent breast development, markedly elevated se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c62160c98646331d4dcbd20bd74b4723
http://europepmc.org/articles/PMC6554796
http://europepmc.org/articles/PMC6554796
SAT-404 Effect of Nsmf Knockout upon Hypothalamic and Pituitary Gene Expression in the Nsmf KO Mouse
Publikováno v:
Journal of the Endocrine Society
Genetic approaches in humans with gonadotropin releasing hormone (GnRH) deficiency causing hypogonadotropic hypogonadism (HH) have been important to understand normal reproduction. NSMF (NMDA receptor synaptonuclear signaling & neuronal migration fac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec1fd80189023d4565b718373fe7738b
https://doi.org/10.1210/js.2019-sat-404
https://doi.org/10.1210/js.2019-sat-404