Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

Autor: Johan Vande Walle, Paul Coucke, Sophie Walraedt, Frauke Coppieters, Elfride De Baere, Hester Y. Kroes, Luis Nunes, Françoise Meire, Valerie Meersschaut, Nicole Van Regemorter, Thomy de Ravel, Ingele Casteels, Hilde Van Esch, Heidi Hoeben, Bart P. Leroy, Lieve Standaert, Sally Hooghe, Sarah De Jaegere, Aušra Matulevičienė

Publikováno v: Human Mutation
Human Mutation, Wiley, 2010, 31 (10), ⟨10.1002/humu.21336⟩
Human mutation, 31 (10
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP

Leber Congenital Amaurosis (LCA), the most severe inherited retinal dystrophy, is genetically heterogeneous, with 14 genes accounting for 70% of patients. Here, 91 LCA probands underwent LCA chip analysis and subsequent sequencing of 6 genes (CEP290,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60fc062a553b7207fbb1d2e4ff75b080
https://doi.org/10.1002/humu.21336

Comparison of different methods to assess fistula flow

Autor: Heidi Hoeben, Sunny Eloot, Raymond Vanholder, Annemieke Dhondt

Publikováno v: Blood purification. 30(2)

Background: We compared three access flow (AF) monitoring techniques: blood dilution using ultrasound (US), blood temperature monitoring (BTM), and online clearance monitoring (OCM), and investigated the impact of dialyzer blood flow (QB), measuremen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::443e084ca68fc109bb70dffdc6dc78a2
https://pubmed.ncbi.nlm.nih.gov/20628244

Hemodynamics in patients with intradialytic hypotension treated with cool dialysate or midodrine

Autor: Heidi Hoeben, Rex L. Mahnensmith, Ali K. Abu-Alfa, Mark A. Perazella

Publikováno v: American journal of kidney diseases : the official journal of the National Kidney Foundation. 39(1)

Cool dialysate and midodrine have been used successfully to treat intradialytic hypotension (IDH) in the end-stage renal disease population. However, the exact mechanisms by which these interventions improve hemodynamic stability are not well known.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfa7614a5af3e8a6bb4eb1916d94d600
https://pubmed.ncbi.nlm.nih.gov/11774108

Acute Renal Failure in the Elderly

Autor: Norbert Lameire, Anke Nelde, Heidi Hoeben, Raymond Vanholder

Publikováno v: Nephrology and Geriatrics Integrated ISBN: 9789401057950

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f0ac00047498df675ecf385c4766112c
https://doi.org/10.1007/978-94-011-4088-1_10

Contents Vol. 23, 2003

Autor: Robert F. Reilly, Vikas Chander, John E. Aruny, Marek Kuzniewski, Devinder Singh, Anna Szumera, R. Sam, Tevfik Ecder, Roland Dyck, Kun-Ling Ma, Bi-Cheng Liu, Tomokatsu Saijyo, Asahi Sakai, Ali K. Abu-Alfa, Hiroyasu Ishikawa, Ute Hoffmann, Robert W. Schrier, Koenraad Bouman, Jing Sun, M. Castro, Hariprasad S. Trivedi, I. Hristea, Yuri Tanaka, Mary Rose Stang, Kanwaljit Chopra, Andrzej Breborowicz, Dina Polosukhina, Kimberly K. McFann, Yasunori Takahashi, Tatsuo Hosoya, Leonard Tan, A.A. Pegoraro, Qi Chen, Helena Klomp, Masaaki Nakayama, Rainer H. Straub, Masayuki Fukazawa, Kurinji Singaravelu, Dimitrios G. Oreopoulos, Tilman B. Drüeke, M.V. Pavan, Nobuhiko Joki, Manfred Marx, Frank Schweda, G. Dunea, Sharon M. Moe, Aled O. Phillips, Hiroki Hase, J.A.L. Arruda, Michael Fischereder, Masato Nakamura, Ryoichi Nakamura, J.B. Lopes de Faria, Bernhard K. Krämer, B. Ghini, Yoji Inishi, Michael M.H. Pang, M.S. Shaykh, Babu J. Padanilam, Heidi Hoeben, A.K. Singh, Maciej Bręborowicz, Miwako Numata, Xiong-Zhong Ruan, V. Khalili, Yoshihiko Imamura, Mary V. Raynolds, Krzysztof Okoń, Mark A. Perazella, Bernhard Lang

Publikováno v: American Journal of Nephrology. 23:483-484

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c3dbe003d7decb82ecc8021c0adf2848
https://doi.org/10.1159/000074949