M31 - Novel ‘Agnostic’ Pharmacologic Approach to Polysubstance Overdose

Autor: Miller, Thomas, Bunting, Amanda, Schatman, Michael, Pergolizzi, Joseph, Schweikert, Alfred, Diana, Frank, Colucci, Robert, Cukier, Herm, Motto, Daniel, Lutz, Marty, Gould, Errol, Raffa, Robert

Publikováno v: In Drug and Alcohol Dependence 1 July 2024 260 Supplement

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Recessive DNAH9 Loss-of-Function Mutations Cause Absence of ODAs Type 2 and Only Subtle Respiratory Ciliary Beating Defects

Autor: I.M. Hoeben, Diana Frank, H. Omran, Claudius Werner, L. Jelten, Petra Pennekamp, N. T. Loges, B. Dwornicziak, Rim Hjeij, J. Tebbe, T. Noethe-Menchen, H. Olbrich

Publikováno v: C25. CLINICAL AND TRANSLATIONAL STUDIES IN RARE LUNG DISEASE.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8fb8f2af0deadadc12a6062095d451ec
https://doi.org/10.1164/ajrccm-conference.2019.199.1_meetingabstracts.a7385

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

Autor: Gerard W. Dougherty, Petra Pennekamp, Johanna Raidt, Inga M. Höben, Laura Venditto, Julia Wallmeier, Israel Amirav, Tabea Nöthe-Menchen, Heymut Omran, Diana Frank, Huda Mussaffi, Kaman Wu, Kim G. Nielsen, Niki T. Loges, Maria C. Philipsen, Bernd Dworniczak, Zeineb Bakey, Isabella Aprea, Francesca Santamaria, Miriam Schmidts, Freerk Prenzel, Rim Hjeij, Heike Olbrich

Publikováno v: American Journal of Human Genetics, 102, 973-984
The American Journal of Human Genetics
American Journal of Human Genetics, 102, 5, pp. 973-984

Primary ciliary dyskinesia (PCD) is characterized by chronic airway disease, male infertility, and randomization of the left/right body axis as a result of defects of motile cilia and sperm flagella. We identified loss-of-function mutations in the op

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24fe4619ded7116fdb4a67544b4ea370
https://doi.org/10.1016/j.ajhg.2018.03.025

Mutations in C11ORF70 cause primary ciliary dyskinesia with randomization of left/right body asymmetry due to outer and inner dynein arm defects

Autor: Francesca Santamaria, Gerard W. Dougherty, Niki T. Loges, Tabea Menchen, Petra Pennekamp, Miriam Schmidts, Diana Frank, Laura Venditto, Inga M. Höben, Israel Amirav, Kaman Wu, Rim Hjeij, Maria C. Philipsen, Heymut Omran, Julia Wallmeier, Isabella Aprea, Freerk Prenzel, Kim G. Nielsen, Johanna Raidt, Bernd Dworniczak, Heike Olbrich

Primary ciliary dyskinesia (PCD) is characterized by chronic airway disease, male infertility and randomization of the left/right body axis caused by defects of motile cilia and sperm flagella. We identified loss-of-function mutations in the open rea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fe97d5d80174501bb885d003a57fb55