Results 291 to 300 of about 60,870 (331)

PIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect

Clinical Genetics, EarlyView.
Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam, Clarisse Delvallée, Bénédicte Gérard, Elodie Javey, Pascal Kessler, Valérie Pelletier, Jean‐Baptiste Lamouche, Nicolas Le May, Jean Muller, Hélène Dollfus   +9 more
wiley   +1 more source

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity

Clinical Genetics, EarlyView.
A novel case is herein described to expand the genetic and clinical spectrum of WDR91 and characterize a previously unrecognized autosomal recessive neurodevelopmental disorder. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development.
Nikolaos M. Marinakis, Afrodite Kampouraki, Danai Veltra, Faidon‐Nikolaos Tilemis, Maria Vasilopoulou, Aikaterini Dokou, Elissavet Georgiadou, Euthalia Karavergou, Maria Christolouka, Alexis Alexopoulos, Dimitra Kirillidi, Maria Goudesidou, Konstantina Kosma, Christalena Sofocleous, Periklis Makrythanasis   +14 more
wiley   +1 more source

Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype

Clinical Genetics, EarlyView.
Accurately diagnosing Beckwith–Wiedemann syndrome (BWS) in twins with discordant phenotypes is essential for personalized oncological monitoring and management. It is advisable to test both twins, even without phenotypic expression, and incorporate prenatal factors like assisted reproduction technologies and twin pregnancies into the diagnostic BWS ...
Iacopo Bellani, Valentina Trevisan, Germana Viscogliosi, Maria Grazia Pomponi, Pietro Chiurazzi, Alessandro Mussa, Giuseppe Zampino, Maurizio Genuardi, Chiara Leoni   +8 more
wiley   +1 more source

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology

Clinical Genetics, EarlyView.
The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Fiona Leduc, Clémence Vanlerberghe, Fabienne Escande, Perrine Brunelle, Florence Petit, Anne Dieux   +5 more
wiley   +1 more source

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Vascular Anomalies

The Journal of Hand Surgery, 2018
Vascular anomalies encompass a wide variety of clinical conditions involving the vasculature. Over the past several decades, the terminology has changed as our understanding of these conditions has improved. A well-accepted classification scheme has evolved with constant additions, updates, and revisions.
Amir H, Taghinia, Joseph, Upton
openaire   +3 more sources

CONGENITAL VASCULAR ANOMALIES [PDF]

Journal of the American Medical Association, 1951
Congenital vascular anomalies involving relatively superficial sites present wide variations in clinical manifestations. These lesions include the commonly observed capillary or cavernous hemangiomas of the infant and unusual abnormalities of the adult which offer difficult but stimulating problems in their evaluation.
June C. Shafer, Acors William Thompson
openaire   +2 more sources

Colorectal Vascular Anomalies

European Journal of Pediatric Surgery, 2020
AbstractVascular anomalies represent a diverse group of tumors and malformations. Those involving the colon and rectum can greatly impact patients' quality of life. Proper workup to ensure the correct diagnosis can vary and may include endoscopic and radiographic studies.
Anna M. McGuire, Belinda H. Dickie
openaire   +2 more sources

Congenital vascular anomalies [PDF]

Current Treatment Options in Cardiovascular Medicine, 2004
Congenital vascular anomalies are rare. The cardiovascular specialist should nevertheless be aware of the more common types of vascular anomalies and understand the implications for patient treatment and the likelihood of associated morbidity. The presentation of congenital arteriovenous malformations can range from asymptomatic or cosmetic lesions, to
Leslie D. Cunningham, Louis L. Nguyen, Edwin C. Gravereaux   +2 more
openaire   +2 more sources

Visceral Vascular Anomalies

Gastrointestinal Endoscopy Clinics of North America, 2001
Gastrointestinal endoscopy is an essential modality often used for initial diagnostic assessment and staging of visceral vascular anomalies, especially when bleeding is the presenting symptom. Some lesions have a pathognomonic appearance on endoscopy.
Steven J. Fishman, Victor L. Fox, Victor L. Fox   +2 more
openaire   +3 more sources

Vascular Anomalies in Pediatrics

Surgical Clinics of North America, 2012
Vascular tumors consist of lesions secondary to endothelial hyperplasia, incorporating both hemangiomas and less common pediatric vascular tumors. Vascular malformations arise by dysmorphogenesis and exhibit normal endothelial cell turnover. Some anomalies may incorporate multiple areas of the vascular tree.
R. Dawn Fevurly, Steven J. Fishman
openaire   +3 more sources