Results 51 to 60 of about 10,092 (250)

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Glioblastoma multiforme misdiagnosed as squint: A case report

Journal of Family Medicine and Primary Care, 2020
Glioblastoma multiforme (GBM) is a high-grade tumor of the brain that arises from the supporting cells of neurons (astrocytes and oligodendrocytes) within the brain.
Fahad Khan, Saad Khan, Sarwat Masud, Nazish Masud   +3 more
doaj   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Two Dimensional Position Correction Algorithm for High-Squint Synthetic Aperture Radar in Wavenumber Domain Algorithm

Remote Sensing
In the traditional high squint angle ω−k imaging algorithm, the impact of a high squint angle on azimuth and range positioning is not considered but does include two aspects: the azimuth position shift caused by a high squint angle and the impact of ...
Shuai Wang, Chen Song, Bingnan Wang, Jie Chen, Lixia Yang, Zhixiang Huang   +5 more
doaj   +1 more source

Rotman lens-based two-tier hybrid beamforming for wideband mmWave MIMO-OFDM system with beam squint

EURASIP Journal on Wireless Communications and Networking, 2018
In this paper, we study the hybrid beamforming for the wideband mmWave multiuser MIMO-OFDM system. We characterize the frequency-dependent beam angle problem, i.e., beam squint effect. Firstly, we extend the mmWave channel model from the Saleh-Valenzuela
Bin Liu, Hongbo Zhu
doaj   +1 more source

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

From Confusion to Clarity: A Multi‐Stage Process Framework for Understanding Consumer Confusion

Journal of Consumer Behaviour, EarlyView.
ABSTRACT This paper reconceptualizes consumer confusion as a multi‐stage temporal process rather than a static outcome, addressing theoretical fragmentation in existing antecedent‐consequence models. By integrating cognitive appraisal, contextual amplification, and adaptive coping within a unified framework, we explain how confusion unfolds rather than
Fatih Celik, Erdogan Koc
wiley   +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

Beyond Skin and Eyes: The Medical and Social Burden of Oculocutaneous Albinism in Africa: A Narrative Review

JEADV Clinical Practice, EarlyView.
ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni, Niccolò Capurro, Alessandro Svizzero, Valeria Brazzelli   +3 more
wiley   +1 more source