Results 61 to 70 of about 12,174 (211)

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2443-2453, November 2026.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Aberrant expression of genes and proteins in pterygium and their implications in the pathogenesis [PDF]

International Journal of Ophthalmology, 2017
Pterygium is a common ocular surface disease induced by a variety of factors. The exact pathogenesis of pterygium remains unclear. Numbers of genes and proteins are discovered in pterygium and they function differently in the occurrence and development ...
Qing-Yang Feng, Zi-Xuan Hu, Xi-Ling Song, Hong-Wei Pan   +3 more
doaj   +1 more source

Overview Pterygium [PDF]

Pterygium is a wing-shaped fibrovascular growth extending from the conjunctiva onto the cornea. This review aims to provide a comprehensive overview of pterygium, including its etiology, clinical presentation, diagnosis, treatment options, and prognosis.
Ilmawati, Ilmawati
core   +1 more source

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita

Clinical Genetics, Volume 110, Issue 5, Page 584-589, November 2026.
We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr, Pierre Moffatt, Lauren Hyer, Sarah Nossov, Noémi Dahan‐Oliel, Frank Rauch   +5 more
wiley   +1 more source

Glucose-6-phosphate-dehydrogenase deficiency as a risk factor in proliferative disorder development [PDF]

, 2009
Glucose-6-phosphate dehydrogenase (G6PD) is an important site of metabolic control in the pentose phosphate pathway (PPP) which provides reducing power (NADPH) and pentose phosphates.
Claudia Abete, Sandra Dessì, Enrico Peiretti, Pierluigi Cocco, Fabrizio Angius, Giacomo Diaz, Maurizio Fossarello, Alessandra Pani, Antonella Mandas, Claudia Norfo   +9 more
core  

Effect of subconjunctival bevacizumab injection before primary pterygium excision: a clinical and immunohistochemical study

Delta Journal of Ophthalmology, 2019
Purpose The aim of this study was to evaluate the effect of preoperative subconjunctival bevacizumab injection on the clinical and immunohistochemical analysis of primary pterygium.
Abd Elmagid M Tag Eldin, Mona M Aly, Marwa A El Kholy   +2 more
doaj   +1 more source

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum

Clinical Genetics, Volume 110, Issue 5, Page 605-615, November 2026.
Pathogenic PORCN variants are compatible with male survival in both mosaic and non‐mosaic states, expanding the FDH/PONGOS spectrum and improving diagnosis and genetic counseling. ABSTRACT Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X‐linked dominant disorder historically considered lethal in males, with milder ...
Lucía Miranda‐Alcaraz, Simone Carbonera, Mónica Mora‐Gómez, Natalia Gallego‐Zazo, Inmaculada Guillén, Elena Padilla, Gaia Visani, Alessia Asaro, Valeria Vásquez‐Amell, Mario Cazalla, Manuel Rodríguez‐Canó, Cristina Silván, Pedro Arias, Juan Andrés Jiménez‐Estrada, Tomás Valle, Alejandro Cruz‐Utrilla, Pilar Escribano‐Subías, Nuria Ochoa Parra, María Jesús del Cerro Marín, Julián Nevado, Spanish PAH Consortium, Pablo Lapunzina, Fabio Sirchia, Jair Tenorio‐Castano   +23 more
wiley   +1 more source

Sun Safety Knowledge, Attitudes, and Practices Among Farmers in Ede‐Oballa, Nigeria

Health Science Reports, Volume 9, Issue 10, October 2026.
ABSTRACT Background Excessive exposure to ultraviolet (UV) radiation of the sun poses significant health risks to outdoor workers. Farmers are particularly vulnerable, yet their knowledge and practices regarding sun protection are underreported in low‐resource settings.
Ukah Cynthia Chinonso, Majani Edward
wiley   +1 more source

Effect of pterygium excision on pterygium induced astigmatism.

Indian Journal of Ophthalmology, 2003
Pterygium is known to affect refractive astigmatism, which can have a significant impact on vision. This study was undertaken to evaluate the effect of pterygium excision on refractive astigmatism.
Maheshwari Sejal
doaj  

Hyaluronan in Ocular Surface Health and Disease: From Biological Mechanisms to Therapeutic Applications

Proteoglycan Research, Volume 4, Issue 4, October 2026.
ABSTRACT Hyaluronan (HA) is an ubiquitous non‐sulfated glycosaminoglycan with unique physicochemical and biological properties that underpin its essential roles in tissue homeostasis, repair, and diseases. First identified in the vitreous humor of the eye, HA has a long‐standing history in ophthalmology as a key component of ophthalmic visco‐surgical ...
Sudhir Verma, Mohammed Salman, Eduardo Cilli, Vivien Coulson‐Thomas   +3 more
wiley   +1 more source