Results 271 to 280 of about 567,471 (395)

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

Clinical Genetics, EarlyView.
This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot, Dima Jouni, Caroline Rooryck, Juliet Taylor, Marine Legendre, Lorelei Charbonnier, Julia Metreau, Emmanuelle Benaloun, Audrey Pinson, Geneviève Quenum, Jérôme Bouligand, Gérard Tachdjian, Philippe Labrune, Lucie Tosca   +13 more
wiley   +1 more source

Na Transport in Autosomal Recessive Polycystic Kidney Disease (ARPKD) Cyst Lining Epithelial Cells

, 2003
Rajeev Rohatgi, Andrew S. Greenberg, Christopher R. Burrow, Patricia D. Wilson, Lisa M. Satlin   +4 more
openalex   +1 more source

Acquired cystic disease of the kidney and renal cell carcinoma [PDF]

, 2007
E. Cohen
openalex   +1 more source

Unusual familial cystic kidney disease: combining fine radiologic and genetic evaluation to solve the case. [PDF]

BMC Nephrol
Bodard S, Nabbout R, Hélénon O, Knebelmann B.   +3 more
europepmc   +1 more source

Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study

Clinical Genetics, EarlyView.
In a multicenter study of 692 patients with kidney disease, a 44‐gene panel achieved a 36% diagnostic yield. The 36% yield was not significantly lower than with larger panels or whole‐exome sequencing. A post hoc machine‐learning model identified key predictors to stratify patients into four risk bins (11%–74% yield), enabling more cost‐effective ...
Silvia Giovanella, Antonio Miguel Poyatos‐Andújar, Maria Mar Aguila Garcia, Almudena Avila‐Fernandez, Ana Bustamante‐Aragonés, Carmen Ayuso, Antonio Percesepe, Davide Martorana, Maria Ferri, Alessandra Terracciano, Laura Massella, Johanna Chester, Francesca Testa, Giulia Ligabue, Marco Ferrarini, Dino Gibertoni, Gaetano Alfano, Elena Tenedini, Lucia Artuso, Marco Marino, Olga Calabrese, Enrico Tagliafico, Riccardo Magistroni   +22 more
wiley   +1 more source

Ablation of Symptomatic Cysts Using Absolute Ethanol in 11 Patients with Autosomal-Dominant Polycystic Kidney Disease

, 2003
Young Rae Lee, Kyu‐Beck Lee
openalex   +1 more source

Determining the Frequency of Acquired Cystic Kidney Disease in End Stage Renal Disease Patients on Hemodialysis at Dialysis Centre of Tertiary Care Hospital. [PDF]

Cureus, 2020
Aleem M, Saleem K, Zafar S, Umer A, Arshad R, Nawaz A.   +5 more
europepmc   +1 more source

IMPROVE 2023: The 2nd International Meeting on Pathway‐Related Obesity: Vision & Evidence

Clinical Obesity, EarlyView.
ABSTRACT A total of 150 clinicians and researchers representing 19 countries came together in person and online to participate in the highly anticipated 2nd International Meeting on Pathway‐Related Obesity: Vision & Evidence (IMPROVE), held on 13–15 December 2023 in Paris, France.
Karine Clément, Erica L. T. van den Akker, Jesús Argente, Phil Beales, Metin Cetiner, Béatrice Dubern, Sadaf Farooqi, Aurélie Gouronc, Peter Kühnen, Johanne Le Beyec, Louis Lebreton, David Meeker, Hermann L. Müller, Jean Muller, Christine Poitou, Patrick Sleiman, Christian Vaisse, Martin Wabitsch, Jacques Young, Hélène Dollfus   +19 more
wiley   +1 more source

Localized cystic kidney disease: a case report unveiling clinical and histopathological challenges. [PDF]

Autops Case Rep
Mendez T, Bahmad HF, Polit F, Carpio N, Gill A, Burke WF, Bhandari A, Poppiti R, Omarzai Y.   +8 more
europepmc   +1 more source

Scalable Matrigel‐Free Suspension Culture for Generating High‐Quality Human Liver Ductal Organoids

Cell Proliferation, EarlyView.
A novel matrigel‐free suspension culture enhances the generation of high‐quality human liver ductal organoids, which shows remarkable efficacy in mice transplantation. ABSTRACT Liver transplantation is currently the sole definitive treatment option for end‐stage liver failure.
Senyi Gong, Kangxin He, Yu Liu, Xingyu Luo, Kamran Ashraf, Jinzhao He, Weifeng Li, Lihua Yang, Touseef Ur Rehman, Mingwei Shen, Qinbiao Yan, Ali Mohsin, Shusen Zheng, Zhe Yang, Meijin Guo   +14 more
wiley   +1 more source