Results 51 to 60 of about 34,384 (251)

Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano, Vito Romano, Alejandra Daruich, Giulio Ferrari, Matthieu Robert, Francesco Semeraro, Neil Lagali, Dominique Bremond‐Gignac, the ANIRIDIA‐NET Clinical Guidelines Working Group, Miriam Barbany, Claus Cursiefen, Stefano Ferrari, Francisco Figueiredo, Christina Grupcheva, Jesper Hjortdal, Elke Kreps, Erlend Landsend, Laura Mauring, Hilde Pedersen, Nora Szentmáry, Bogumil Wowra, the Aniridia‐Europa and Geniris Working Group, Sophie Valleix, Juan Álvarez de Toledo, James Lauderdale, Tor Paaske Utheim, Paolo Rama   +26 more
wiley   +1 more source

The human brain arterial circle variants and integrated classification of individual-typological variability

Сеченовский вестник, 2018
Objective. The variability of the design of the arterial circle of the human brain (ACHB) has been studied.Materials and methods. The systematization was carried out and the original classification of the variants of ACHB was compiled.
V. N. Nikolenko, A. V. Pavlov, V. E. Timofeev, S. R. Zherebyatyeva, S. M. Timofeeva   +4 more
doaj   +1 more source

Permanent or Transient Congenital Hypothyroidism: A Diagnostic Dilemma

Acta Paediatrica, EarlyView.
ABSTRACT Aim Distinguishing between transient congenital hypothyroidism (TCH) and permanent congenital hypothyroidism (PCH) remains clinically challenging and is typically deferred until the age of 2–3 years, to minimise the potential risk of adverse neurodevelopmental effects due to treatment cessation.
Niki Dermitzaki, Anastasios Serbis, Maria Baltogianni, Foteini Balomenou, Vasileios Giapros   +4 more
wiley   +1 more source

Prolonged bone marrow aplasias in patients with acute leukemias after chemotherapy

Терапевтический архив, 2010
Aim. To analyze the causes of prolonged hematopoietic tissue aplasias in patients with acute leukemias (AL) after chemotherapy courses. Materials and methods.
N V Gaidamaka, E N Parovichnikova, L E Zavalishina, T Ts Garmayeva, T V Gaponova, V V Troitskaya, O S Pokrovskaya, D S Tikhomirov, E E Khodunova, D S Maryin, I B Kaplanskaya, E N Ustinova, E A Mikhailova, V G Isayev, E O Gribanova, V G Savchenko   +15 more
doaj  

Unilateral Pulmonary Aplasia with Dextroposition of Heart: A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2018
‘Pulmonary Aplasia’ is a rare condition where there is absence of unilateral or bilateral lung tissue with a rudimentary bronchus which separates it from the similar looking ‘Pulmonary Agenesis’.
Sanjib Kumar Das, Ipsita Acharya, Jayashree Mohanty, Sasmita Parida, Basanta Manjari Swain   +4 more
doaj   +1 more source

A Prenatal Case of Focal Dermal Hypoplasia With Split Hand/Foot Malformation, Lack of Characteristic Skin Findings, Renal Agenesis, and Coloboma Due To a Novel PORCN Variant. [PDF]

Prenat Diagn
Prenatal Diagnosis, Volume 45, Issue 11, Page 1515-1518, October 2025.
Jackson M, Suchet I, Langdon K, Chadha R, Yu W, Chan ES, Thomas MA.   +6 more
europepmc   +2 more sources

Complete Müllerian agenesis, renal agenesis, and renal ectopia: MURCS association – A rare cause of primary amenorrhea

Apollo Medicine, 2019
Müllerian duct aplasia–renal agenesis–cervicothoracic somite dysplasia (MURCS) association is a rare and unusual constellation of nonrandom findings that include Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. The agenesis of
Reddy Ravikanth, Pooja Majumdar
doaj   +1 more source

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

Further Exploring the TRRAP Genotype–Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies

Clinical Genetics, EarlyView.
We report on the clinical characteristics of three new patients with pathogenic TRRAP variants expanding the syndrome's phenotype. In order to investigate the TRRAP potential involvement in skeletal development, osteoclastogenesis in Patient 1 was evaluated and TRRAP expression in osteoclasts and osteoblasts were analyzed.
Chiara Minotti, Sara Terreri, Andrea Del Fattore, Francesca Romana Lepri, Rosario Ruta, Maria Iascone, Laura Pezzoli, Maria Lisa Dentici, Antonio Novelli, Michelina Armando, Daniela Longo, Giuseppe Novelli, Domenico Barbuti, Andrea Bartuli, Ugo Cavallari, Ludovico Graziani, Maria Cristina Digilio, Lorenzo Sinibaldi   +17 more
wiley   +1 more source

Síndrome de TAR y estado de heterocigosis para anemia falciforme

Salud Uninorte, 2004
Presentación de un paciente con el cuadro clínico del síndrome de TAR, quien presenta además un estado de heterocigosis para anemia falciforme. El síndrome de TAR, descrito por primera vez en 1959 por Shaw y Oliver, es un trastorno genético no común ...
Pilar Garavito, Carlos Silvera, C.M. Fernández Ponce   +2 more
doaj