Results 31 to 40 of about 8,209 (195)

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Septo-optic dysplasia (case report)

Indian Journal of Ophthalmology, 1991
Septo optic dysplasia is a rare developmental anomaly involving bilateral optic nerve hypoplasia, midline anomalies of the brain and hypothalamo-pituitary dysfunction.
Nayak Venkatesh, Bhat K
doaj  

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

Statistical shape modeling of the human inner ear through micro‐computed tomography imaging

The Anatomical Record, EarlyView.
In this study, 54 cadaveric temporal bone specimens underwent high‐resolution micro‐CT imaging. Images were semi‐automatically segmented and converted to 3D surface mesh models for morphological measurement and analysis. Statistical shape models were created for the inner ear, cochlea, and vestibular system, as well as for sex‐ and side‐based subgroups.
Carmine Spedaliere, Alexandra Vaupotic, Jaehyun Hwang, Khalil Husein, Mustafa Hafidh, Kyle Rioux, S. Alireza Rohani, Sumit K. Agrawal, Hanif M. Ladak   +8 more
wiley   +1 more source

Genetic causes of optic nerve hypoplasia [PDF]

Journal of Medical Genetics, 2017
Optic nerve hypoplasia (ONH) is the most common congenital optic nerve anomaly and a leading cause of blindness in the USA. Although most cases of ONH occur as isolated cases within their respective families, the advancement in molecular diagnostic technology has made us realise that a substantial fraction of cases has identifiable genetic causes ...
Chen, Chun-An, Yin, Jiani, Lewis, Richard Alan, Schaaf, Christian P.   +3 more
openaire   +3 more sources

Developmental Morphometry of the Paranasal Sinuses in Subjects Aged 1–25 Years: A Computed Tomography Study

Clinical Anatomy, EarlyView.
ABSTRACT The present study aimed to evaluate the developmental morphometry of the paranasal sinuses using computed tomography (CT) in subjects aged 1–25 years and to characterize age‐related changes in sinus dimensions, volume, and surface area throughout childhood, adolescence, and young adulthood.
Ceyda Şevval Çetin, Aslıhan Artaş, Ali Atadağ, Ömer Faruk Cihan, Orhan Beger   +4 more
wiley   +1 more source

Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report

BMC Medical Genetics, 2019
Background Septo-optic dysplasia (SOD), also known as de-Morsier syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain including absence of the septum ...
A. Fernández-Marmiesse, M. S. Pérez-Poyato, A. Fontalba, E. Marco de Lucas, M. T. Martínez, M. J. Cabero Pérez, M. L. Couce   +6 more
doaj   +1 more source

KIF1A‐Mediated Axonal Transport of Netrin‐1 in iPSC‐Derived Human Forebrain Neurons

Cytoskeleton, EarlyView.
ABSTRACT Netrin‐1 is a secreted laminin‐like protein that functions as a guidance cue for axon pathfinding in development. Netrin‐1 also modulates synapse formation in developing neurons and long‐term potentiation in mature neurons. Netrin‐1 is expressed in human neurons; however, its intracellular distribution and trafficking have not been assessed ...
T. Y. Leung, J. Sidhu, A. Hsieh, Y. Ma, J. Liu, M. A. Silverman   +5 more
wiley   +1 more source

Septo-optic dysplasia in an infant

Radiology Case Reports, 2022
Septo-optic dysplasia (SOD) is a rare congenital disorder occurring in only 1 in 10,000 live births. Initially it was described in 1941 by Reeves and further discussed by the French-Swiss neurologist de Morsier (1956) as the disease further addressed his
Ermira Aliu, MD, Juna Musa, MD, MSc, Anusha Parisapogu, MBBS, Erisa Kola, MD, Fjolla Hyseni, MD, Ina Kola, MD, Alejandro Obando Blandón, MD, Pooja Roy, MD, Kampa Prathima, MD, Chandalji Naik Banavath, MD, Pooja Kumbha, MD, Shaik Mashood Tappa, MD, Jasmine Saini, MD, Srikrishnan Pichuthirumalai, MD, Ilir Ahmetgjekaj, Assoc. Prof. Dr   +14 more
doaj   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source