Results 311 to 320 of about 117,699 (379)

Phenotypical Characterization of Gastroenterological and Metabolic Manifestations in Patients With Williams–Beuren Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Gastrointestinal (GI) symptoms are common in patients with Williams–Beuren syndrome (WBS), but their prevalence and possible causes are not yet fully known. This study assessed GI symptoms' prevalence and their possible origin by performing a predefined set of tests in adult WBS patients.
Maria Francesca Bedeschi, Annarita Baldassarri, Roberta Villa, Federico Tanzi, Simona Salera, Vincenza Lombardo, Alessandro Draghi, Nicole Piazza O'Sed, Giovanni Casazza, Maurizio Vecchi, Mirella Fraquelli   +10 more
wiley   +1 more source

Lung transplant referral for individuals with cystic fibrosis: Cystic Fibrosis Foundation consensus guidelines [PDF]

, 2019
CF Lung Transplant Referral Guidelines Committee,, Dunitz, Jordan M, Faro, Albert, Gray, Alice L, Hempstead, Sarah E, Lucy, Amy, McKone, Edward F, Pilewski, Joseph M, Ramos, Kathleen J, Rosenbluth, Daniel B, Smith, Patrick J, Tallarico, Erin   +11 more
core   +1 more source

MTSS2 ‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni, Francesca Romana Lepri, Sarah Cetola, Maria Lisa Dentici, Federico Vigevano, Antonio Novelli, Nicola Specchio, Marina Trivisano, Maria Cristina Digilio   +12 more
wiley   +1 more source

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source

Expanding the Phenotypic Spectrum of HNRNPU‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT HNRNPU‐related neurodevelopmental disorder (HNRNPU‐NDD) is caused by pathogenic and likely pathogenic variants in HNRNPU. With increasing accessibility to advanced genetic investigations, children presenting with developmental delay and intellectual disability will often undergo genomic testing; hence, the number of patients found to be ...
A. K. O. Hodgson, L. Baxandall, D. Aiyedun, A. Li, P. Y. B. Au, J. M. Bain, M. A. Gillentine, H. Goel, A. D. Kline, C. L. Ricupero, R. Sánchez‐Carpintero, E. P. Seward, R. Sidlow, S. A. Wilson, M. Balasubramanian   +14 more
wiley   +1 more source

Advancements in Ambient Ionisation Mass Spectrometry in 2024: An Annual Review

Analytical Science Advances, Volume 6, Issue 1, June 2025.
ABSTRACT The introduction of ambient ionisation mass spectrometry (AIMS) is among the most important developments in analytical chemistry in recent years. Enabling the direct analysis of samples in their native state with neither sample preparation nor chromatographic separation provides chemical characterisation in a matter of seconds.
Alisha Henderson, Liam M. Heaney, Stephanie Rankin‐Turner   +2 more
wiley   +1 more source

A Case Study of Liver After Kidney Transplantation: Addressing Polycystic Diseases With Tailored Surgical and Postoperative Approaches

Clinical Case Reports, Volume 13, Issue 6, June 2025.
ABSTRACT Polycystic liver disease is a hereditary disease, which is characterized by the presence of multiple cysts within the liver. In this case, we report a patient with multiple cysts in the kidneys and liver, who underwent kidney transplantation in 2019 and then liver transplantation 4 years later.
Chengjun Sun, Yang Du, Ming Han, Shaojun Shi, Linwei Wu   +4 more
wiley   +1 more source

CEP162: A critical regulator of ciliary transition zone assembly and its implications in ciliopathies

Journal of Cell Communication and Signaling, Volume 19, Issue 2, June 2025.
Abstract CEP162, a 162‐kDa centrosome protein, is a crucial centrosomal adapter, mediating cell differentiation and polarization. CEP162 maintains mitosis by dynamically stabilizing microtubules. CEP162 promotes the transition zone (TZ) assembly in the basal body through interaction with CEP131, CEP290, and axoneme microtubules as well as the distal ...
Jun Yin, Jialian Bai, Xiaochong He, Wenjuan He, Hongming Miao, Mengjie Zhang, Zhongying Yu, Bing Ni   +7 more
wiley   +1 more source

Reliability of radiomic analysis on multiparametric MRI for patients affected by autosomal dominant polycystic kidney disease. [PDF]

Sci Rep
Lussana F, Lanzarone E, Villa G, Mastropietro A, Caroli A, Scalco E.   +5 more
europepmc   +1 more source

The diagnostic challenges of medullary thyroid carcinoma: A practical guide for cytopathologists

Cancer Cytopathology, Volume 133, Issue 6, June 2025.
Abstract Medullary thyroid carcinoma (MTC) is a rare but potentially aggressive neuroendocrine tumor arising from the thyroid C cells (parafollicular cells) that produce calcitonin, representing 1%–3% of thyroid malignancies but contributing to up to 15% of thyroid cancer‐related deaths.
Marc P. Pusztaszeri, Zahra Maleki
wiley   +1 more source