Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Shelley Towner"'
Autor:
Natascia Malerba, Shelley Towner, Katherine Keating, Gabriella Maria Squeo, William Wilson, Giuseppe Merla
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Homozygous and compound heterozygous pathogenic variants in GNB5 have been recently associated with a spectrum of clinical presentations varying from a severe multisystem form of the disorder including intellectual disability, early infantile develop
Externí odkaz:
https://doaj.org/article/878ee75f77c8468b80dcfef5a763b454
Autor:
William G. Wilson, Arif B. Ekici, Helen Cox, Bernt Popp, Shagufta Khan, Bettina Behring, Moritz Hebebrand, Regina Trollmann, André Reis, Theresa Penger, Steffen Uebe, Cornelia Kraus, Joachim Woelfle, Mandy Krumbiegel, Georgia Vasileiou, Shelley Towner, Elisabeth Bosch
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism.
Context CPE encodes carboxypeptidase E, an enzyme that converts proneuropeptides and propeptide hormones to bioactive forms. It is widely expressed in the endocrine and central nervous system. To date, 4 individuals from 2 families with core clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eeb8d04d2563be5f9553065bca7cbe27
https://doi.org/10.1210/clinem/dgab592
https://doi.org/10.1210/clinem/dgab592
Autor:
Amy McTague, Siddharth Srivastava, Tamison Jewett, Ali Al-Beshri, Constance Smith-Hicks, Shelagh Joss, Jennifer A. Sullivan, Sarju G. Mehta, Koenraad Devriendt, Pascal Joset, Laurence Faivre, Emma Kivuva, William G. Wilson, Gunnar Houge, Naama Orenstein, Yana Hoorne, Vickie L. Hannig, Malou Heijligers, Bart Loeys, Vandana Shashi, Katrina Prescott, Iris Verbinnen, Annick Toutain, Lauren M. Baldwin, Stephen P. Fulton, Katharina Steindl, Anne Marie Childs, Anna Chassevent, Shelley Towner, Cornelia Daumer-Haas, Oded Wechsberg, Alison Male, Hannah F. Johnson, Wendy K. Chung, Anita Rauch, Anna Ruiz, Isabelle Maystadt, Sara Reynhout, Sébastien Moutton, Yvette van Ierland, Veerle Janssens, Frédéric Laumonnier, Martina Baethmann, Lisa Lenaerts, Vani Jain, Vinod Varghese, Suzanne M. Koudijs, Elisabeth Gabau, Frédérique Bonnet-Brilhault, Rizwan Hamid, Susan E. Holder, Barbara Plecko
Publikováno v:
Genetics in Medicine, 23(2), 352-362. Nature Publishing Group
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in Medicine, 23(2), 352-362. Lippincott Williams & Wilkins
Genetics in Medicine, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in medicine
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in Medicine, 23(2), 352-362. Lippincott Williams & Wilkins
Genetics in Medicine, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in medicine
PURPOSE: Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A) dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA, and more rarely in PPP2R1A. Here, we aimed to better understand the latter by cha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1563bdcdf43463d5995297a78f9c2f2
https://ddd.uab.cat/record/238621
https://ddd.uab.cat/record/238621
Autor:
Bobby P. C. Koeleman, Volker Mall, Wen-Hann Tan, Rachel Slaugh, Ralitza H. Gavrilova, Yue Si, Shelley Towner, Aditi Gupta, Emily Bryant, Yasemin Dincer, Matias Wagner, Michael Zech, Sakshi Singh, Koen L.I. van Gassen, Jorge L. Granadillo, Rhonda E. Schnur, Nicole P. Safina, Ashley N. Sigafoos, Eric W. Klee, Jennifer B. Humberson, Eva H. Brilstra, Sunita N. Misra, Tracy Brandt, Juliane Winkelmann, Francisca Millan, Sarah R Green, Kendra Engleman, Karl J. Clark, G. Bradley Schaefer
Publikováno v:
Genetics in Medicine
Genet. Med. 22, 1413–1417 (2020)
Genet. Med. 22, 1413–1417 (2020)
Purpose: This study characterizes the clinical and genetic features of nine unrelated patients with de novo variants in the NR4A2 gene. Methods: Variants were identified and de novo origins were confirmed through trio exome sequencing in all but one
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a040824e9082d38f1a1cf93d370953f
https://mediatum.ub.tum.de/doc/1546889/document.pdf
https://mediatum.ub.tum.de/doc/1546889/document.pdf
Autor:
Giuseppe Merla, William G. Wilson, Gabriella Maria Squeo, Katherine Keating, Natascia Malerba, Shelley Towner
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Frontiers in Genetics
Frontiers in Genetics
Homozygous and compound heterozygous pathogenic variants in GNB5 have been recently associated with a spectrum of clinical presentations varying from a severe multisystem form of the disorder including intellectual disability, early infantile develop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47eeec925cc802e5ae9a192fada4729d
https://www.frontiersin.org/article/10.3389/fgene.2018.00626/full
https://www.frontiersin.org/article/10.3389/fgene.2018.00626/full