Results 71 to 80 of about 3,398 (180)

Hypertrophic Cardiomyopathy as a Key Feature of MRAS‐Related Noonan Syndrome: New Case and Comprehensive Literature Review

Prenatal Diagnosis, Volume 46, Issue 4, Page 581-588, April 2026.
ABSTRACT Noonan syndrome (NS) is a rare multisystemic condition among the RASopathy group, characterized by a broad phenotypic spectrum and genetic variability. It results from pathogenic variants in genes regulating the RAS/MAPK pathway, affecting cell proliferation and differentiation.
Romain Martineau, Constance Wells, Florent Fuchs, Sophie Collardeau‐Frachon, Valentin Ruault, Sophie Colomb, Jean‐Michel Faure, Caroline Bartholmot, Marie Vincenti, Benjamin Ganne, Marjolaine Willems   +10 more
wiley   +1 more source

A Clinical Guidance for the Management of Patients With Hepatoid Adenocarcinoma and A Case Series

Cancer Medicine, Volume 15, Issue 2, February 2026.
ABSTRACT Hepatoid adenocarcinoma (HAC) is a rare extrahepatic tumor of non‐germ cell origin that morphologically resembles hepatocellular carcinoma (HCC). HAC has a propensity to metastasize to the liver and therefore may be mistaken for HCC. There is a lack of standardized treatment protocols, and further studies are needed to evaluate the benefit of ...
Christina Liava, Sudhakar Venkatesh, Michael S. Torbenson, Patrick S. Kamath, Moira Hilscher   +4 more
wiley   +1 more source

Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health

Clinical Genetics, Volume 109, Issue 2, Page 266-276, February 2026.
In 325 exomes of South Brazilian Mennonites, we identified 23 pathogenic variants (P) and 27 likely P, with founder effects identified for 96% of P, whose frequencies differed from non‐Finnish Europeans, Amish, and Brazilian populations. ABSTRACT The Mennonite population has a unique history of 500 years of genetic isolation shaped by at least three ...
Luiza Beatriz Mayer de Lima, Eduardo Delabio Auer, Isabela Dall’Oglio Bucco, Valéria Bumiller‐Bini Hoch, Priscila Ianzen dos Santos, Fabiana L. Lopes, Alan Shuldiner, Emilton Lima Júnior, Angelica Beate Winter Boldt   +8 more
wiley   +1 more source

Functional alterations due to amino acid changes and evolutionary comparative analysis of ARPKD and ADPKD genes

Genomics Data, 2016
A targeted customized sequencing of genes implicated in autosomal recessive polycystic kidney disease (ARPKD) phenotype was performed to identify candidate variants using the Ion torrent PGM next-generation sequencing.
Burhan M. Edrees, Mohammad Athar, Zainularifeen Abduljaleel, Faisal A Al-Allaf, Mohiuddin M. Taher, Wajahatullah Khan, Abdellatif Bouazzaoui, Naffaa Al-Harbi, Ramzia Safar, Howaida Al-Edressi, Khawala Alansary, Abulkareem Anazi, Naji Altayeb, Muawia A. Ahmed   +13 more
doaj   +1 more source

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

Clinical Genetics, Volume 109, Issue 1, Page 136-140, January 2026.
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

Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles [PDF]

, 2020
\ua9 2020, The Author(s).Background: PKHD1 is the main genetic cause of autosomal recessive polycystic kidney disease (ARPKD), a hereditary hepato-renal fibrocystic disorder which is the most important cause of end-stage renal disease during early ...
Srivastava S, Sayer JA, Dewhurst RM, Molinari E   +3 more
core   +2 more sources

Clinicopathological features and genetic variations in patients with polycystic liver disease [PDF]

精准医学杂志
Objective To investigate the clinicopathological features and gene mutation characteristics of patients with polycystic liver disease (PLD). Methods A retrospective analysis was performed for the clinical data of 12 PLD patients who attended Department ...
ZHOU Xueyan, WANG Ye, XING Rui, LI Yixian, HAN Xinyi, ZHAO Peng
doaj   +1 more source

Prolonged Survival With Homozygous Deletion of Exon 9 in Perlman Syndrome: A Case Report

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Perlman syndrome is a rare autosomal recessive overgrowth disorder characterized by macrosomia, nephromegaly, renal dysplasia, and characteristic facial features. It has both similarities and differences to other more common overgrowth syndromes. Pathogenic homozygosity is extremely rare in nonconsanguineous relationships.
Esther Levy, Leighton Elliott, Michal A. Miller, Mackenzie Kramer, Balraj Mittal   +4 more
wiley   +1 more source

Emerging roles and mechanisms of miR-206 in human disorders: a comprehensive review

Cancer Cell International, 2022
As a member of the miR-1 family, miR-206 is located between IL-17 and PKHD1 genes in human. This miRNA has been shown to be involved in the pathogenic processes in a variety of human disorders including cancers, amyotrophic lateral sclerosis, Alzheimer’s
Sheyda Khalilian, Seyedeh Zahra Hosseini Imani, Soudeh Ghafouri-Fard   +2 more
doaj   +1 more source

A proposed classification for standardized reporting of liver disease in children with autosomal recessive polycystic kidney disease

JPGN Reports, Volume 7, Issue 3, Page 477-478, August 2026.
Kavya Kurkal, Girish L. Gupte
wiley   +1 more source