Results 31 to 40 of about 54,673 (271)

Tooth agenesis review

, 2012
Background: Tooth agenesis means absence or incomplete development of tooth. It is a common human anomaly, which according to Online Mendelian Inheritance in Man database affects approximately 20% of the population.
L. Gábrlíková
core   +1 more source

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer, Britt‐Marie Anderlid, Lena Jacobson, Daniel Martín Muñoz, Erik Björck   +4 more
wiley   +1 more source

The Varieties of Ignorance: Imaging of Congenital Variants of Pancreas and Its Ductal System—A Pictorial Review

Indian Journal of Radiology and Imaging
Congenital variants of the pancreas are being increasingly detected with the widespread use of modern imaging techniques. The underlying embryologic aberration predicts the final appearance of pancreatic development.
Shaurya Sharma, Binit Sureka, Taruna Yadav, Ananya Panda, Pushpinder Singh Khera   +4 more
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Solid pseudopapillary tumor associated with agenesis of the dorsal pancreas: a case report

Brazilian Journal of Oncology, 2021
Solid pseudopapillary tumors (SPTs) of the pancreas are rare tumors with low potential for malignancy, uncertain lineage, and favorable prognosis in most cases. The SPT has an excellent prognosis, and the standard treatment is surgical resection.
Daniel Paulino Santana, Diogo Viana Abreu, Edmilson Celso Santos, Bruno de Lima Rodrigues, Anna Carolina D’Ascenção Maia, Marcos Campos Wanderley Reis   +5 more
doaj   +1 more source

Ontogeny of murine bony semicircular canal form

The Anatomical Record, EarlyView.
Abstract The labyrinthine geometry and functional anatomy of the semicircular canals have intrigued scientists for decades, and there has been considerable interest in understanding how these complex structures grow and develop with evidence emerging from human studies that size maturation occurs exceptionally early by comparison with other systems ...
Marcela Cárdenas‐Serna, Nathan Jeffery   +1 more
wiley   +1 more source

Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics

British Journal of Clinical Pharmacology, EarlyView.
Abstract This review focuses on the development of radiopharmaceutical imaging agents and radioligand therapeutics for paediatric use. Nuclear medicine plays an important role in the diagnosis and treatment of various childhood conditions, including cancers, infections and brain disorders.
Justin L. Hay, Amandine Manon, Hunter Stephens, S. Y. Amy Cheung, Bart de Keizer, Erik T. te Beek   +5 more
wiley   +1 more source

A rare case of agenesis of dorsal pancreas

National Journal of Clinical Anatomy, 2012
Agenesis of dorsal bud of the pancreas is an extremely rare congenital anomaly which results in absence of neck, body and tail of the adult pancreas. It may be associated with number of clinical features like diabetes mellitus, abdominal pain and chronic
Devi D Jansirani, S Shiva deep, S Deepak Barathi   +2 more
doaj   +1 more source

Agenesis of the right lung in an adult woman: A case report

Clinical Case Reports, 2023
Key Clinical Message Pulmonary agenesis is a rare congenital abnormality. Patients with hemithorax white‐out on x‐rays should be treated with caution, especially in resource‐limited countries where chest CT and bronchofibroscopy are not available to ...
Elias Gonçalves, Ofélia Sachicola, Bartolomeu Estanislau, Francisca Quifica, Humberto Morais, Margarete Arrais   +5 more
doaj   +1 more source

Tooth Agenesis and Associated Tooth Developmental Anomalies

, 2014
Aim of study: Tooth agenesis means absence or incomplete development of tooth. It is the most common developmental dental anomaly in man. The prevalence of agenesis in permanent dentition (excluding third molars) in common population oscillates between 2.
E. Kaplová, L. Kramerová, K. Langová, P. Krejčí   +3 more
core   +1 more source