Birth prevalence of achondroplasia: A systematic literature review and meta‐analysis

Autor: Rosa van Hoorn, Renée Shediac, Pamela K. Foreman, Femke van Kessel, Judith van den Bosch, Sarah Landis

Publikováno v: American Journal of Medical Genetics. Part a

Achondroplasia is a genetic disorder that results in disproportionate short stature. The true prevalence of achondroplasia is unknown as estimates vary widely. This systematic literature review and meta‐analysis was conducted to better estimate wor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d22e282151ac91001f6e4f1826a7b49f
https://doi.org/10.1002/ajmg.a.61787

Clinical Profile and Treatment in Hypereosinophilic Syndrome Variants: A Pragmatic Review

Autor: Gema Requena, Judith van den Bosch, Praveen Akuthota, Anna Kovalszki, Jonathan Steinfeld, Namhee Kwon, Melissa K. Van Dyke

Publikováno v: The journal of allergy and clinical immunology. In practice. 10(8)

Hypereosinophilic syndrome (HES) is a group of rare hematologic disorders leading to eosinophil-driven tissue damage and dysfunction. Better understanding of HES variants may facilitate improved patient management.To describe disease characteristics,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0abfa6ed6e75b8208c96a49d8a71c45e
https://pubmed.ncbi.nlm.nih.gov/35470096

Epidemiology - renal outcomes

Autor: Neil R. Powe, Bolesław Rutkowski, Serpil Muge Deger, Mitsuru Yanai, Arun Ashok, Chie Saito, Noha A. Osman, Merike Luman, Masahiro Hagiwara, Giulia Ubaldi, Natalie Ebert, Keita Kamei, Marian Klinger, Ingi Elsayed, Rajiv Saran, Rene Clavero, Vasil Cholakov, Dragana Juric, Annie Rein-Weston, Merel van Diepen, Paloma Gallar, Margareta Fištrek, Olivier Moranne, Vesna Gerasimovska, Moniek C.M. de Goeij, Tanushree Banerjee, Hillary Morgan, Sebastjan Bevc, Turgay Arinsoy, Akira Hiwatashi, Anca Tilea, Ewa Król, Richard J. Silverwood, Keigyo Yoh, Zbigniew Gaciong, Amanda B. Greer, Shahed Ahmed, Marcora Mandreoli, Cristina Di Giogia, Shouichi Fujimoto, Yukiko Hasuike, Laurence Lutteri, Dino Gibertoni, Kyrill S. Rogacev, Bojan Jelaković, Gunnar H. Heine, Ahad A. Abdalla, Alan G. Jardine, Joichi Usui, Ailish Hannigan, Biljana Gerasimovska Kitanovska, Rachel Hilton, Mariusz Kusztal, Ronald D. Perrone, Dunja Rogic, Hideaki Yoshida, Isao Kubota, Austin G. Stack, Olimpia Ortega, Rebecca Cheng, Sandra Karanović, Nieves Vasquez, Zbigniew Heleniak, Toshiki Moriyama, Joanna Rymaszewska, Jason C. Cole, Dario Tedesco, Ahmet B. Ozbay, Syuichi Tsuruoka, Ivana Vuković Lela, Yasuo Ohashi, Hanna Wiatr, A. Tilea, Peter Rutherford, Etienne Cavalier, Leszek Tylicki, Mohamed M. NasrAllah, Ana Lucić Vrdoljak, Ami Nagasawa, Marcin Rutkowski, Manuel Macía, Hala S El-Wakil, Tomasz Szychliński, Beatriz Tapia, Lukasz Zdrojewski, Mohalab Adam, Mary Pierce, Abdelhafeez Fadl, Sreelatha Melemadathil, Yuji Sato, Takahiro Kuragano, Sue Siddall, Ana Jarque, Antonios Douros, Kazuhiro Matsuyama, Kunihiro Yamagata, Elizabeth Hedgeman, Sususmu Takahashi, Kazuyoshi Okada, Antonio Santoro, Kürşad Öneç, Julie Hinostroza, Jean-Marie Krzesinski, Hirayasu Kai, Joachim Jankowski, Hanna Augustyniak-Bartosik, Mattia Monti, Sunny Sallam, Stevka Bogdanovska, Naveed Sattar, Aniana Oliet, Liam F. Casserly, Arif Khwaja, Noeleen Ryan, Mirjana Fuček, Yasuyuki Nagasawa, Giovanni Tripepi, Fabio Olmeda, D Steffick, Adam M. Zawada, Magdalena Pryczkowska, P. Kotanko, Vedran Premuzic, Orod Osanlou, Kazuhisa Takeuchi, N. Levin, Tomasz Gołębiowski, Ewa Bartosińska, Gavin Taylor-Stokes, S.W. Han, Jennifer Sayers, Tomasz Zdrojewski, Mario Hair, Paola Rucci, Viatcheslav Rakov, Ewa Trafidlo, Anna Schulz, Mark S. MacGregor, Fredrik Uhlin, Lea Katalinić, Judith Van Den Bosch, Katarzyna Madziarska, Tawfik Ghabrah, Frances Mortimer, Tadeusz Jȩdrzejczyk, Ana Vigil, Pierre Delanaye, David Goldsmith, Samar Abd ElHafeez, Hiroko Sato, Moustafa Nawar, Charles J. Ferro, Issei Kurahashi, Arlene B. Chapman, F. Finkelstein, Lisa Burnapp, Carlos Bermudez, Ante Cvitkovic, Magdalena Cieplińska, Antonio Lupo, Kazuko Suzuki, Vera Jankowski, G. Eisele, Nilka Rios-Burrows, Margaret Kiser, Ivana Vuković-Lela, Mona M. Abdel-Gawad, Ulver Derici, Caroline O. S. Savage, Holly B. Krasa, Desmond Williams, Elke Schaeffner, Mario Laganović, Mehmet Akif Ozturk, Galina Severova Andreevska, Anders Fernström, Maki Shinzawa, Danilo Fliser, Michihiro Hosojima, Suk-Hee Yu, Gabriela Cobo, Enrique Tevar, Magdalena Krajewska, Hakan Nacak, Jung-ho Shin, Glenn Blake, Christopher Sibley-Allen, Noha Awad, Dorothea Nitsch, Hanna Kotlowska, Nina Hojs, Masaki Hara, Bogdan Wyrzykowski, Eman El Bassuoni, Thomas Archer, Vera Krane, Reneta Koycheva, Hiromi Rakugi, R. Sands, A. Stack, Atif A Khalil, Olga Jakob, Friedo W. Dekker, Rosen Iliev, Radovan Hojs, Simone Warren, Samir H. Asaad, Shona Methven, Patrizia Bernich, Takeshi Nakanishi, Olivier Bruyère, Diana Kuh, Jose Antonio Martin, Su Hyun Kim, J. Carlos Herrero, Gianluigi Zaza, Naoki Morito, Kosuke Kudo, Robert Ekart, Ahmed G. Adam, Ken Tsuchiya, Minoru Ando, Kazunobu Ichikawa, Kosaku Nitta, Isabel Rodríguez, Margarit Penev, Aleksandar Sikole, Hala ElWakil, Beng So, B. Gillespie, Ron D. Hays, Yoshitaka Isaka, R. Saran, Wacław Weyde, Ivo Fridolin, Marcus Richards, Jivko Andreev, Piotr Bandosz, Ryouhei Yamamoto, Dorothee Oberdhan, Frank Schiepe, Koichi Asahi, Kazuhiko Tsuruya, Rebecca Hardy, Nieves del Castillo, Osama El Minshawy, Akihiko Saito, Zahira M. Gad, Tatiana Aldunate, Zivka Dika, Carmen Mon, Elena Sestigiani, Reinhold Kreutz, Kunitoshi Iseki, Milagros Ortiz, Jelena Kos, Tetyana Chernenko, Tsuneo Konta, Tsuyoshi Watanabe, Bogdan Solnica, Jana Holmar, Carmine Zoccali, Sukru Sindel, Kei Nagai, Steven E. Marx, Walter Zidek, Thakshyanee Bhuvanakrishna, Galip Guz, Maria Luisa Mendez, Sarah Seiler, Abdelmageed Hamza, Hoang T. Nguyen

Publikováno v: Nephrology Dialysis Transplantation. 28:i140-i154

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::32f7a2efda9069cae3108e11540f6627
https://doi.org/10.1093/ndt/gft109