Results 81 to 90 of about 11,635 (210)

Familial coexistence of the association: Fabry's syndrome and congenital ptosis

, 1991
The authors undertook a clinical and genetic study in a large family with the aim of identifying the mode of inheritance of Fabry syndrome and congenital ptosis. These two types of pathology were present to varying extents.
Kitsos, G., Psilas, K., Rebapis, I., Darlamitsou, L., Bassioukas, K.   +4 more
core  

Coordinated regulation of PIEZO2 by alternative splicing, post‐translational modification, membrane trafficking and protein partners

The Journal of Physiology, EarlyView.
Abstract figure legend Regulatory mechanisms such as alternative splicing, post‐translational modification, membrane trafficking, and protein interactions control channel gating, membrane abundance, and overall activity of PIEZO2. Proper regulation supports PIEZO2‐dependent proprioceptive, somatosensory, nociceptive, pruriceptive and interoceptive ...
Eunice I. Oribamise, Qinglu Li, Mary G. Garry   +2 more
wiley   +1 more source

Progressively worsening ptosis in a woman: A case report

Clinical Case Reports
Key Clinical Message Filler injections into the upper eyelid may cause levator aponeurosis fibrosis and ptosis. This risk must be considered. When ptosis appears, treatment might be difficult.
Hongqing Zhao, Yuan Ren, Zhanhua Yang, Yuanyuan Wang, Junbo Zhang   +4 more
doaj   +1 more source

Isolated left upper eyelid ptosis with pansinusitis and contralateral otitis media in a 9-year-old boy

American Journal of Ophthalmology Case Reports, 2018
Purpose: Upper eyelid ptosis has different etiologies in children and adults. In children, the common causes include orbital cellulitis, congenital ptosis, Cranial Nerve (CN) III palsy, and Horner's syndrome.
Nathan D. Wilbanks, Oliver R. Filutowski, Michael D. Maldonado, Zeynel A. Karcioglu   +3 more
doaj   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1608-1618, July 2026.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

A Genome-wide Linkage Analysis and Mutation Analysis of Hereditary Congenital Blepharoptosis in a Japanese Family [PDF]

, 2008
Hereditary congenital ptosis (PTOS) is defined as drooping of the upper eyelid without any other accompanying symptoms and distinguished from syndromic blepharoptosis.Two previous linkage analyses assigned a PTOS locus (PTOS1) to 1p32-p34.1 and another ...
Nakano, Motoi, Kondoh, Shinji, Niikawa, Norio, Kishino, Tatsuya, Miwa, Nobutomo, Nakashima, Mitsuko, Yoshiura, Koh-ichiro, Hirano, Akiyoshi   +7 more
core   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Identification of Complex Chromosomal Rearrangement Involving Chromosomes 10, 18, and 19 in a Family Undergoing Prenatal Diagnosis: Case Report

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Complex chromosomal rearrangements (CCRs) are rare chromosomal structural abnormalities that are often difficult to be detected. Chromosome conformation‐based karyotyping (c‐Moka) is an emerging technology designed to analyze the three‐dimensional structure of chromosomes, thereby identifying various types of chromosomal structural variations.
Duo Zhou, Wenchang Lian, Huoniao Wang, Renliang Huang, Jie Deng, Shujing Jiao, Qiaomiao Zhou   +6 more
wiley   +1 more source

Coexistence of Congenital Aniridia and Ptosis in a Patient with Neurofibromatosis Type I: A Case Report

Case Reports in Ophthalmology
Introduction: Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in the NF1 gene on chromosome 17q11.2. The main ocular manifestations include Lisch nodules, optic pathway gliomas, and plexiform neurofibromas, all of ...
Maura Mancini, Paola Palino, Alessandro Calderone, Giovanni W. Oliverio, Pasquale Aragona, Alessandro Meduri   +5 more
doaj   +1 more source

Polymorphic myopathological findings in a 77‐year‐old woman with oculo‐bulbo‐facial and distal weakness

Brain Pathology, EarlyView.
Michele Tosi, Angela Puma, Elena Faedo, Gianmarco Severa, Luisa Villa, Sabrina Sacconi, Edoardo Malfatti   +6 more
wiley   +1 more source