Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Margaret F Lippincott"'
Autor:
Margaret F. Lippincott, Wanxue Xu, Abigail A. Smith, Xinyu Miao, Agathe Lafont, Omar Shennib, Gordon J. Farley, Riwa Sabbagh, Angela Delaney, Maria Stamou, Lacey Plummer, Kathryn Salnikov, Neoklis A. Georgopoulos, Veronica Mericq, Richard Quinton, Frederic Tran Mau-Them, Sophie Nambot, Asma Hamad, Helen Brittain, Rebecca S. Tooze, Eduardo Calpena, Andrew O.M. Wilkie, Marjolaine Willems, William F. Crowley, Ravikumar Balasubramanian, Nathalie Lamarche-Vane, Erica E. Davis, Stephanie B. Seminara
Publikováno v:
Genetics in Medicine. 24:2501-2515
The study aimed to identify novel genes for idiopathic hypogonadotropic hypogonadism (IHH).A cohort of 1387 probands with IHH underwent exome sequencing and de novo, familial, and cohort-wide investigations. Functional studies were performed on 2 p19
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a3cce5412ed78cc1a00576d2114ea97
https://doi.org/10.1016/j.gim.2022.08.025
https://doi.org/10.1016/j.gim.2022.08.025
Autor:
Maria I Stamou, Harrison Brand, Mei Wang, Isaac Wong, Margaret F Lippincott, Lacey Plummer, William F Crowley, Michael Talkowski, Stephanie Seminara, Ravikumar Balasubramanian
Publikováno v:
J Clin Endocrinol Metab
Context The genetic architecture of isolated hypogonadotropic hypogonadism (IHH) has not been completely defined. Objective To determine the role of copy number variants (CNVs) in IHH pathogenicity and define their phenotypic spectrum. Methods Exome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f62478648df97a27f88e9b70c39a0c2
https://pubmed.ncbi.nlm.nih.gov/35727719
https://pubmed.ncbi.nlm.nih.gov/35727719
Autor:
Trevor Cole, Rajae Talbi, Margaret F. Lippincott, E. Terasawa, Yee-Ming Chan, Natalie D. Shaw, Janet E. Hall, Chrysanthi Fergani, Susan E. Stewart, S. Leon, I. S. Farooqi, Christopher M. Jones, Wiebke Arlt, Stephanie B. Seminara, Víctor M. Navarro
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 104:4304-4318
Context Kisspeptin–neurokinin B (NKB)–dynorphin neurons are critical regulators of the hypothalamic–pituitary–gonadal axis. NKB and dynorphin are hypothesized to influence the frequency of GnRH pulses, whereas kisspeptin is hypothesized to be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0da6f79f837043bf11abca8619947d39
https://doi.org/10.1210/jc.2019-00146
https://doi.org/10.1210/jc.2019-00146
Autor:
Avinash Ramu, Ole Mors, Cecilia M. Lindgren, Scott D. Gordon, Harold Snieder, Kuang Lin, Jenny C Censin, Dale R. Nyholt, Maarja Lepamets, Samantha Laber, Andres Salumets, Siyang Liu, Ana Luiza Gonçalves Soares, Stefan Johansson, Nicholas G. Martin, Jodie N. Painter, Xin Jin, Christiana Kartsonaki, Viktorija Kukushkina, Christian M. Becker, Zhengming Chen, Andrew P. Morris, Preben Bo Mortensen, Rasmus Nielsen, Robin G Walters, Sarah E. Medland, Øyvind Helgeland, Chia-Yen Chen, Julius Juodakis, Stephanie B. Seminara, Benjamin M. Neale, Marianne Andersen, Penelope A. Lind, Ingrid Granne, Donald F. Conrad, Reedik Mägi, Jonas Bybjerg-Grauholm, Margaret F. Lippincott, Jonas Bacelis, Debbie A Lawlor, Anders D. Børglum, Pål R. Njølstad, Ling Yang, Andres Metspalu, Triin Laisk, Bo Jacobsson, Krina T. Zondervan, Liming Li, Grant W. Montgomery, Thomas Werge, David M. Hougaard, J Southcombe, Merete Nordentoft, Iona Y Millwood, Teresa Ferreira
Publikováno v:
Laisk, T, Soares, A L G, Ferreira, T, Painter, J N, Censin, J C, Laber, S, Bacelis, J, Chen, C-Y, Lepamets, M, Lin, K, Liu, S, Millwood, I Y, Ramu, A, Southcombe, J, Andersen, M S, Yang, L, Becker, C M, Børglum, A D, Gordon, S D, Bybjerg-Grauholm, J, Helgeland, Ø, Hougaard, D M, Jin, X, Johansson, S, Juodakis, J, Kartsonaki, C, Kukushkina, V, Lind, P A, Metspalu, A, Montgomery, G W, Morris, A P, Mors, O, Mortensen, P B, Njølstad, P R, Nordentoft, M, Nyholt, D R, Lippincott, M, Seminara, S, Salumets, A, Snieder, H, Zondervan, K, Werge, T, Chen, Z, Conrad, D F, Jacobsson, B, Li, L, Martin, N G, Neale, B M, Nielsen, R, Walters, R G, Granne, I, Medland, S E, Mägi, R, Lawlor, D A & Lindgren, C M 2020, ' The genetic architecture of sporadic and multiple consecutive miscarriage ', Nature Communications, vol. 11, 5980 (2020) . https://doi.org/10.1038/s41467-020-19742-5
Laisk, T, Soares, A L G, Ferreira, T, Painter, J N, Censin, J C, Laber, S, Bacelis, J, Chen, C, Lepamets, M, Lin, K, Liu, S, Millwood, I Y, Ramu, A, Southcombe, J, Andersen, M S, Yang, L, Becker, C M, Børglum, A D, Gordon, S D, Bybjerg-grauholm, J, Helgeland, Ø, Hougaard, D M, Jin, X, Johansson, S, Juodakis, J, Kartsonaki, C, Kukushkina, V, Lind, P A, Metspalu, A, Montgomery, G W, Morris, A P, Mors, O, Mortensen, P B, Njølstad, P R, Nordentoft, M, Nyholt, D R, Lippincott, M, Seminara, S, Salumets, A, Snieder, H, Zondervan, K, Werge, T, Chen, Z, Conrad, D F, Jacobsson, B, Li, L, Martin, N G, Neale, B M, Nielsen, R, Walters, R G, Granne, I, Medland, S E, Mägi, R, Lawlor, D A & Lindgren, C M 2020, ' The genetic architecture of sporadic and multiple consecutive miscarriage ', Nature Communications, vol. 11, no. 1, 5980 . https://doi.org/10.1038/s41467-020-19742-5
Nature communications, vol 11, iss 1
Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Laisk, T, Soares, A L G, Ferreira, T, Painter, J N, Censin, J C, Laber, S, Bacelis, J, Chen, C Y, Lepamets, M, Lin, K, Liu, S, Millwood, I Y, Ramu, A, Southcombe, J, Andersen, M S, Yang, L, Becker, C M, Børglum, A D, Gordon, S D, Bybjerg-Grauholm, J, Helgeland, Ø, Hougaard, D M, Jin, X, Johansson, S, Juodakis, J, Kartsonaki, C, Kukushkina, V, Lind, P A, Metspalu, A, Montgomery, G W, Morris, A P, Mors, O, Mortensen, P B, Njølstad, P R, Nordentoft, M, Nyholt, D R, Lippincott, M, Seminara, S, Salumets, A, Snieder, H, Zondervan, K, Werge, T, Chen, Z, Conrad, D F, Jacobsson, B, Li, L, Martin, N G, Neale, B M, Nielsen, R, Walters, R G, Granne, I, Medland, S E, Mägi, R, Lawlor, D A & Lindgren, C M 2020, ' The genetic architecture of sporadic and multiple consecutive miscarriage ', Nature Communications, vol. 11, 5980 . https://doi.org/10.1038/s41467-020-19742-5
Nature Communications, 11(1):5980. Nature Publishing Group
Laisk, T, Soares, A L G, Ferreira, T, Painter, J N, Censin, J C, Laber, S, Bacelis, J, Chen, C-Y, Lepamets, M, Lin, K, Liu, S, Millwood, I Y, Ramu, A, Southcombe, J, Andersen, M S, Yang, L, Becker, C M, Børglum, A D, Gordon, S D, Bybjerg-Grauholm, J, Helgeland, Ø, Hougaard, D M, Jin, X, Johansson, S, Juodakis, J, Kartsonaki, C, Kukushkina, V, Lind, P A, Metspalu, A, Montgomery, G W, Morris, A P, Mors, O, Mortensen, P B, Njølstad, P R, Nordentoft, M, Nyholt, D R, Lippincott, M, Seminara, S, Salumets, A, Snieder, H, Zondervan, K, Werge, T, Chen, Z, Conrad, D F, Jacobsson, B, Li, L, Martin, N G, Neale, B M, Nielsen, R, Walters, R G, Granne, I, Medland, S E, Mägi, R, Lawlor, D A & Lindgren, C M 2020, ' The genetic architecture of sporadic and multiple consecutive miscarriage ', Nature Communications, vol. 11, 5980 . https://doi.org/10.1038/s41467-020-19742-5
Laisk, T, Soares, A L G, Ferreira, T, Painter, J N, Censin, J C, Laber, S, Bacelis, J, Chen, C Y, Lepamets, M, Lin, K, Liu, S, Millwood, I Y, Ramu, A, Southcombe, J, Andersen, M S, Yang, L, Becker, C M, Børglum, A D, Gordon, S D, Bybjerg-Grauholm, J, Helgeland, Ø, Hougaard, D M, Jin, X, Johansson, S, Juodakis, J, Kartsonaki, C, Kukushkina, V, Lind, P A, Metspalu, A, Montgomery, G W, Morris, A P, Mors, O, Mortensen, P B, Njølstad, P R, Nordentoft, M, Nyholt, D R, Lippincott, M, Seminara, S, Salumets, A, Snieder, H, Zondervan, K, Werge, T, Chen, Z, Conrad, D F, Jacobsson, B, Li, L, Martin, N G, Neale, B M, Nielsen, R, Walters, R G, Granne, I, Medland, S E, Mägi, R, Lawlor, D A & Lindgren, C M 2020, ' The genetic architecture of sporadic and multiple consecutive miscarriage ', Nature Communications, vol. 11, no. 1, 5980 . https://doi.org/10.1038/s41467-020-19742-5
Laisk, T, Soares, A L G, Ferreira, T, Painter, J N, Censin, J C, Laber, S, Bacelis, J, Chen, C, Lepamets, M, Lin, K, Liu, S, Millwood, I Y, Ramu, A, Southcombe, J, Andersen, M S, Yang, L, Becker, C M, Børglum, A D, Gordon, S D, Bybjerg-grauholm, J, Helgeland, Ø, Hougaard, D M, Jin, X, Johansson, S, Juodakis, J, Kartsonaki, C, Kukushkina, V, Lind, P A, Metspalu, A, Montgomery, G W, Morris, A P, Mors, O, Mortensen, P B, Njølstad, P R, Nordentoft, M, Nyholt, D R, Lippincott, M, Seminara, S, Salumets, A, Snieder, H, Zondervan, K, Werge, T, Chen, Z, Conrad, D F, Jacobsson, B, Li, L, Martin, N G, Neale, B M, Nielsen, R, Walters, R G, Granne, I, Medland, S E, Mägi, R, Lawlor, D A & Lindgren, C M 2020, ' The genetic architecture of sporadic and multiple consecutive miscarriage ', Nature Communications, vol. 11, no. 1, 5980 . https://doi.org/10.1038/s41467-020-19742-5
Nature communications, vol 11, iss 1
Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Laisk, T, Soares, A L G, Ferreira, T, Painter, J N, Censin, J C, Laber, S, Bacelis, J, Chen, C Y, Lepamets, M, Lin, K, Liu, S, Millwood, I Y, Ramu, A, Southcombe, J, Andersen, M S, Yang, L, Becker, C M, Børglum, A D, Gordon, S D, Bybjerg-Grauholm, J, Helgeland, Ø, Hougaard, D M, Jin, X, Johansson, S, Juodakis, J, Kartsonaki, C, Kukushkina, V, Lind, P A, Metspalu, A, Montgomery, G W, Morris, A P, Mors, O, Mortensen, P B, Njølstad, P R, Nordentoft, M, Nyholt, D R, Lippincott, M, Seminara, S, Salumets, A, Snieder, H, Zondervan, K, Werge, T, Chen, Z, Conrad, D F, Jacobsson, B, Li, L, Martin, N G, Neale, B M, Nielsen, R, Walters, R G, Granne, I, Medland, S E, Mägi, R, Lawlor, D A & Lindgren, C M 2020, ' The genetic architecture of sporadic and multiple consecutive miscarriage ', Nature Communications, vol. 11, 5980 . https://doi.org/10.1038/s41467-020-19742-5
Nature Communications, 11(1):5980. Nature Publishing Group
Laisk, T, Soares, A L G, Ferreira, T, Painter, J N, Censin, J C, Laber, S, Bacelis, J, Chen, C-Y, Lepamets, M, Lin, K, Liu, S, Millwood, I Y, Ramu, A, Southcombe, J, Andersen, M S, Yang, L, Becker, C M, Børglum, A D, Gordon, S D, Bybjerg-Grauholm, J, Helgeland, Ø, Hougaard, D M, Jin, X, Johansson, S, Juodakis, J, Kartsonaki, C, Kukushkina, V, Lind, P A, Metspalu, A, Montgomery, G W, Morris, A P, Mors, O, Mortensen, P B, Njølstad, P R, Nordentoft, M, Nyholt, D R, Lippincott, M, Seminara, S, Salumets, A, Snieder, H, Zondervan, K, Werge, T, Chen, Z, Conrad, D F, Jacobsson, B, Li, L, Martin, N G, Neale, B M, Nielsen, R, Walters, R G, Granne, I, Medland, S E, Mägi, R, Lawlor, D A & Lindgren, C M 2020, ' The genetic architecture of sporadic and multiple consecutive miscarriage ', Nature Communications, vol. 11, 5980 . https://doi.org/10.1038/s41467-020-19742-5
Laisk, T, Soares, A L G, Ferreira, T, Painter, J N, Censin, J C, Laber, S, Bacelis, J, Chen, C Y, Lepamets, M, Lin, K, Liu, S, Millwood, I Y, Ramu, A, Southcombe, J, Andersen, M S, Yang, L, Becker, C M, Børglum, A D, Gordon, S D, Bybjerg-Grauholm, J, Helgeland, Ø, Hougaard, D M, Jin, X, Johansson, S, Juodakis, J, Kartsonaki, C, Kukushkina, V, Lind, P A, Metspalu, A, Montgomery, G W, Morris, A P, Mors, O, Mortensen, P B, Njølstad, P R, Nordentoft, M, Nyholt, D R, Lippincott, M, Seminara, S, Salumets, A, Snieder, H, Zondervan, K, Werge, T, Chen, Z, Conrad, D F, Jacobsson, B, Li, L, Martin, N G, Neale, B M, Nielsen, R, Walters, R G, Granne, I, Medland, S E, Mägi, R, Lawlor, D A & Lindgren, C M 2020, ' The genetic architecture of sporadic and multiple consecutive miscarriage ', Nature Communications, vol. 11, no. 1, 5980 . https://doi.org/10.1038/s41467-020-19742-5
Miscarriage is a common, complex trait affecting ~15% of clinically confirmed pregnancies. Here we present the results of large-scale genetic association analyses with 69,054 cases from five different ancestries for sporadic miscarriage, 750 cases of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fd0c1f7e71d89e6ec11573a8c6f6722
https://hdl.handle.net/1983/5c050641-41a7-4147-905c-81baa299f2d4
https://hdl.handle.net/1983/5c050641-41a7-4147-905c-81baa299f2d4
Autor:
Stephanie B. Seminara, Neil Smith, Margaret F. Lippincott, Lacey Plummer, Margaret G. Au, Andrew A. Dwyer, Ravikumar Balasubramanian
Publikováno v:
J Genet Couns
Patients often have difficulty understanding genetic test reports. Technical language and jargon can impede comprehension and limit patients using results to act on findings. One potential way to improve patient understanding of genetic test reports
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c240cf86c68f5c29755ffa7508796826
https://pubmed.ncbi.nlm.nih.gov/33098367
https://pubmed.ncbi.nlm.nih.gov/33098367
Autor:
Stephanie B. Seminara, Stephanie A. Roberts, Yee-Ming Chan, Jill L. Brodsky, Margaret F. Lippincott, Abhinash Srivatsa, Priscila Sales Barroso, Hector Granados, Courtney Nagel Sandler, Cielo Alleyn
Publikováno v:
Journal of the Endocrine Society
Background: The management of youth presenting with delayed puberty is challenging because it can be difficult to predict which children will eventually progress through puberty and which children will not. We have previously shown that exogenous adm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d444542dc083b923f4567ac5b901d205
http://europepmc.org/articles/PMC7208816
http://europepmc.org/articles/PMC7208816
Autor:
Stephanie A. Roberts, Jill L. Brodsky, Courtney Sandler, Margaret F. Lippincott, Abhinash Srivatsa, Priscila Sales Barroso, Cielo Alleyn, Yee-Ming Chan, Hector Granados, Stephanie B. Seminara
Publikováno v:
J Clin Endocrinol Metab
Context The management of youth with delayed puberty is hampered by difficulty in predicting who will eventually progress through puberty and who will fail to attain adult reproductive endocrine function. The neuropeptide kisspeptin, which stimulates
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43c12e27672d5a6aa5438f851d545b68
https://europepmc.org/articles/PMC7282711/
https://europepmc.org/articles/PMC7282711/
Publikováno v:
Journal of the Endocrine Society
Context Individuals with idiopathic hypogonadotropic hypogonadism (IHH), even those with evidence of some hypothalamic reproductive endocrine activity, fail to complete puberty and fail to respond to physiologic doses of kisspeptin. Objective This ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fb529c013a376cb1d4749cc35941342
https://doi.org/10.1210/js.2018-00183
https://doi.org/10.1210/js.2018-00183
Autor:
Lacey Plummer, Muhammad Shahab, Paulina M. Merino, Addie Davies, Margaret F. Lippincott, Yee-Ming Chan, Stephanie B. Seminara, Verónica Mericq
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 103:1273-1276
Context Hypothalamic kisspeptin signaling plays a critical role in the initiation and maintenance of reproductive function. Biallelic mutations in the coding sequence of KISS1R (GPR54) have been identified in patients with idiopathic hypogonadotropic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::130e9b6b93fca4e6c9b599c6608b30ea
https://doi.org/10.1210/jc.2017-02636
https://doi.org/10.1210/jc.2017-02636
Publikováno v:
J Am Acad Dermatol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6486d026ff752224025482b274af5bc
https://pubmed.ncbi.nlm.nih.gov/32444272
https://pubmed.ncbi.nlm.nih.gov/32444272