Results 91 to 100 of about 75,040 (259)

Clinical and Molecular Characterization of 46 Patients With Beckwith–Wiedemann Spectrum and Uniparental Disomy of 11p15

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas, Peter Lauffer, Niels Vos, Paola Lombardi, Marcel M. A. M. Mannens, Youp Zegers, Laura J. C. M. van Zutven, Aeilko H. S. Zwinderman, Mieke M. van Haelst, Jet Bliek   +9 more
wiley   +1 more source

Atypical choroidal neovascular membrane

American Journal of Ophthalmology Case Reports
Purpose: To report the course of atypical choroidal neovascularization (CNV) in a middle-aged woman experiencing sudden vision loss. Observations: A middle-aged female presented with sudden onset vision loss.
Kimia Rezaei, Shaden H. Yassin, Henry Ferreyra, Shyamanga Borooah   +3 more
doaj   +1 more source

Number of CNV Lesions, Mean Area CNV, SEM, SD and % Lesion Area Relative to Area at 240 mW Laser Power.

, 2015
Number of CNV Lesions, Mean Area CNV, SEM, SD and % Lesion Area Relative to Area at 240 mW Laser Power.
Lucy Evans (768001), Katherine Tian (768002), Zhongjie Fu (767999), Chi-Hsiu Liu (768000), Ye Sun (95796), Thomas Fredrick (768004), Lois E. H. Smith (102715), Yan Gong (103494), Nicholas Saba (768003), Jie Li (15030), Peyton Morss (768005), Jing Chen (4762)   +11 more
core   +1 more source

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

Topical Application of Cell-Penetrating Peptide Modified Anti-VEGF Drug Alleviated Choroidal Neovascularization in Mice

International Journal of Nanomedicine
Weinan Hu,* Wenting Cai,* Yan Wu, Chengda Ren, Donghui Yu, Tingting Li, Tianyi Shen, Ding Xu, Jing Yu Department of Ophthalmology, Shanghai Tenth People’s Hospital, Tongji University, Shanghai, People’s Republic of China*These authors ...
Hu W, Cai W, Wu Y, Ren C, Yu D, Li T, Shen T, Xu D, Yu J   +8 more
doaj  

An In-depth Review of Cutaneous Necrotizing Venulitis: Clinical and Pathological Perspective

Scripta Score Scientific Medical Journal
Background: Cutaneous Necrotizing Venulitis (CNV) is a complex multisystem disorder primarily affecting small skin vessels, particularly postcapillary venules. Objective: This article aims to discuss about cutaneous necrotizing venulitis (CNV).
Cut Putri Hazlianda, Rima Rahmi Putri Harahap   +1 more
doaj   +1 more source

A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa, Bruna Fagundes Rodrigues Alaite, Vera Lúcia Gil‐da‐Silva‐Lopes, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

CNV-Finder: Streamlining Copy Number Variation Discovery

Motivation Copy Number Variations (CNVs) play pivotal roles in complex disease etiology, often requiring large sample sizes to analyze disease associations.
Nada Al Tassan, Mary B Makarious, Kimberley J Billingsley, Kensuke Daida, Cornelis Blauwendraat, Mike A Nalls, Lara M Lange, Laksh Malik, Sara Bandres-Ciga, Behloul Soundous Malek, Cedric Kouam, Breeana Baker, Yasser Mecheri, Pin-Jui Kung, Lesley Wu, Kristin Levine, Lana Sargeant, Mathew J Koretsky, Miriam Ostrozovicova, Nicole Kuznetsov, Bashayer Al-Mubarak, Soraya Bardien, Yi-Wen Tay, Andrew B Singleton, Hampton L Leonard, Kathryn Step, Maria Teresa Periñan, Raquel Real, Huw R Morris, Kajsa Atterling Brolin, Katherine M Andersh, Samantha Hong, Dan Vitale, Makarious, Mary B., Al-Mubarak, Bashayer, Real, Raquel, Kouam, Cedric, Atterling Brolin, Kajsa, Vitale, Dan, Singleton, Andrew B., Andersh, Katherine M., Bandres-Ciga, Sara, Soundous Malek, Behloul, Nalls, Mike A., Hong, Samantha, Step, Kathryn, Billingsley, Kimberley J., Levine, Kristin, Daida, Kensuke, Periñán, María Teresa, Bardien, Soraya, Kung, Pin-Jui, Al Tassan, Nada, Leonard, Hampton L., Koretsky, Mathew J., Tay, Yi-Wen, Baker, Breeana, Sargeant, Lana, Ostrozovicova, Miriam, Kuznetsov, Nicole, Morris, Huw R., Blauwendraat, Cornelis, Wu, Lesley, Mecheri, Yasser, Malik, Laksh, Lange, Lara M.   +65 more
core   +1 more source

Overview of the distribution of human homologous genes within CNV and non-CNV regions of 8 different species.

, 2013
Overview of the distribution of human homologous genes within CNV and non-CNV regions of 8 different species.
Kyriacos Felekkis (491527), Harsh Dweep (104858), Constantinos Deltas (333799), Konstantinos Voskarides (333789), George D. Georgiou (491526), Norbert Gretz (14081)   +5 more
core   +1 more source

The Role of Glutamatergic and Dopaminergic Genes in Resistant Schizophrenia: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Psychosis is a heterogeneous disorder, with approximately one‐third of patients experiencing treatment resistance, predominantly among individuals diagnosed with Schizophrenia. Treatment‐resistant schizophrenia (TRS) may stem from a distinct biological signature, involving abnormalities in the dopaminergic and glutamatergic systems.
Maria Teresa Moreno‐Calle, Silvia Iñiguez‐Barrio, Maria Aurora Arrue, Leire Erkoreka   +3 more
wiley   +1 more source