Results 281 to 290 of about 552,750 (375)

A Rare Coexisting Presentation of Autosomal Dominant Polycystic Kidney Disease With Rapid Deterioration of Renal Function and Neurofibromatosis Type 1. [PDF]

Cureus
Noishiki H, Yamauchi H, Komaki K, Kusaba T, Tamagaki K.   +4 more
europepmc   +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

Zinner syndrome: report of a case and whole exome sequencing. [PDF]

Basic Clin Androl
He J, Wei C, Huang Y, Xu F, Wang M, Chen Z.   +5 more
europepmc   +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

Autosomal Dominant Polycystic Kidney Disease-Related Multifocal Renal Cell Carcinoma: A Narrative Iconographic Review. [PDF]

Int J Mol Sci
Sergi CM, Guerra L, Hager J.
europepmc   +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

Choline in Pediatric Nutrition: Assessing Formula, Fortifiers and Supplements Across Age Groups and Clinical Indications. [PDF]

Nutrients
Bernhard W, Shunova A, Graepler-Mainka U, Hilberath J, Wiechers C, Poets CF, Franz AR.   +6 more
europepmc   +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

Misdiagnosis and analysis of clinical characteristics in patients with giant cystic pheochromocytoma/paraganglioma. [PDF]

Discov Oncol
Zhang Y, Zhou B.
europepmc   +1 more source

Second 'pop-off' of fetal giant urinoma: case report and review. [PDF]

BMC Pregnancy Childbirth
Qi X, Pang H, Wang L, Tan Y, Luo H.
europepmc   +1 more source