Results 51 to 60 of about 14,255 (146)

Rare GNAO1 Variant Presenting with Deep Brain Stimulation‐Responsive Jaw‐Opening Dystonia

Movement Disorders Clinical Practice, EarlyView.
Fabian Maass, Saskia Biskup, Vesna Malinova, Christiane Weinrich, Christoph van Riesen   +4 more
wiley   +1 more source

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

Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies

Clinical Genetics, Volume 107, Issue 6, Page 600-611, June 2025.
This study provides clinical practice guidelines to streamline genetic testing for inherited retinal dystrophies (IRDs), underscoring the critical role of molecular diagnosis in enhancing patient care. These recommendations aim to elevate diagnostic accuracy, guide therapeutic decisions, and ultimately improve patient outcomes, marking a significant ...
João Pedro Marques, Célia Azevedo Soares, Ana Luísa Carvalho, Sérgio Estrela‐Silva, Luísa Coutinho Santos, Lina Ramos, Eduardo Silva   +6 more
wiley   +1 more source

Nonrecurrent Triplication of 5q21.3q23.3: A Case Report and Review of the Literature

American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.
ABSTRACT Triplications involving 5q21.3q23.3 are rare, and a phenotype has not been established. Here, we present a 4‐month‐old male with dysmorphic facial features and congenital cardiac malformation. Chromosomal microarray identified a pathogenic triplication of 5q21.3q23.3 with chromosome analysis showing the extra 5q material inserted into 16q ...
Jacob A. Ginter, Sarah Beaudry, Natalya Guseva, Jaime Nagy, Aaron A. Stence, Alpa Sidhu   +5 more
wiley   +1 more source

Paediatric Hypotrichosis: A Clinical and Algorithmic Approach to Diagnosis

Australasian Journal of Dermatology, Volume 66, Issue 3, Page e109-e119, May 2025.
ABSTRACT Paediatric hypotrichosis is the clinical feature of paucity of hair arising congenitally or in early life with the presentation being that of the child whose hair is growing insufficiently. It is a hallmark finding of a diverse group of genodermatoses and sporadic disorders, presenting as either an isolated symptom or in association with ...
Neda So, Leona Yip, David Orchard
wiley   +1 more source

Epileptic spasms and RNA analysis in a new case of Kabuki syndrome type 2

Epilepsia, EarlyView.
Flavia Privitera, Camilla Meossi, Filippo Maria Santorelli, Emanuele Bartolini   +3 more
wiley   +1 more source

OMIM, Online Mendelian Inheritance in Man

, 2004
Peter Suber
openalex   +1 more source

Sodium-Glucose Transporter 2: Untangling the Mingled Yarn of Genetic and Pharmacologic Inhibition. [PDF]

Kidney360
Gulati A.
europepmc   +1 more source

Coexistence of T-Cell Lymphoblastic Lymphoma and Ichthyosis Vulgaris: A Case Report. [PDF]

Case Rep Oncol Med
Kamış ŞÇ, Yağcı B.
europepmc   +1 more source

Coexistence of congenital lacrimal gland agenesis and congenital aniridia: Case report. [PDF]

Am J Ophthalmol Case Rep
Alzaben KA, Alshuhayb BS, Alsulaiman SM, Alenazi M, Alkhayyal MA.   +4 more
europepmc   +1 more source