Results 61 to 70 of about 65,918 (263)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Off-center presentation of ocular myasthenia

Kerala Journal of Ophthalmology, 2022
Myasthenia gravis is an autoimmune condition with varied presentations. In this, we report a 70 years old diabetic male who came complaining of diplopia.
Mary A Stephen, P Jayasri, P J Harigaravelu   +2 more
doaj   +1 more source

Loss of Twist1 leads to disruption of ciliary length, endocytic vesicle dynamics, and cell–cell junctions during neural tube formation

Developmental Dynamics, EarlyView.
Abstract Background Endocytosis constitutes a fundamental cellular process governing development through coordinated regulation of plasma membrane remodeling and ciliogenesis, processes essential for cell shape changes and tissue development. Although Twist1 null embryos display complete cranial neural tube (NT) closure defects and conditional knockout
Derrick Thomas, Brittany M. Hufft‐Martinez, Zarna Lalwani, Vi Pham, Mary Elmeniawi, An J. Tran, Jianming Xu, Irfan Saadi, Walid D. Fakhouri   +8 more
wiley   +1 more source

Comportamiento de las ptosis palpebral en el servicio de oculoplastia: Año 2001 Behavior of palpebral ptosis in the oculoplasty service: Year 2001

Revista Cubana de Oftalmología, 2002
Se estudiaron 93 pacientes que acudieron a consulta en el año 2001 y se les realizó examen oftalmológico completo y específico de la ptosis. El 40,86 % se encontraba entre los 15 años o menos.
Marta Herrera Soto, Carlos González Rodríguez, Nereyda Martínez Suárez, Carmen Padilla González   +3 more
doaj  

Fetal-derived trophoblast use the apoptotic cytokine tumor necrosis factor-alpha-related apoptosis-inducing ligand to induce smooth muscle cell death. [PDF]

, 2007
Remodeling of the uterine spiral arteries during pregnancy transforms them from high to low resistance vessels that lack vasoconstrictive properties. This process is essential to meet the demand for increased blood flow imposed by the growing fetus. Loss
Aplin, JD, Baker, PN, Cartwright, JE, Freeman, A, Harris, LK, Keogh, RJ, Whitley, GS   +6 more
core   +1 more source

Turner syndrome and associated problems in turkish children: A multicenter study [PDF]

, 2015
Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls.
Abacı, A., Abalı, S., Adal, E., Akın, L., Akıncı, A., Akyürek, N., Andıran, N., Anık, A., Atabek, M.E., Ataş, A., Aydın, B.K., Açıkel, C., Baş, F., Baş, S., Baş, V.N., Bereket, A., Binay, Ç., Bolu, S., Bondy, C., Bulan, K., Büyükinan, M., Can, H.D., Cinaz, P., Darcan, Ş., Darendeliler, F., Demir, K., Demirbilek, H., Demirel, F., Doğan, D., Doğan, M., Döneray, H., Dündar, B., Eklioğlu, B.S., Emeksiz, H.C., Ercan, O., Eren, E., Ersoy, B., Evliyaoğlu, O., Fidancı, K., Gökşen, D., Gül, D., Gürbüz, F., Hatun, Ş., Kaba, S., Kara, C., Karagüzel, G., Keskin, M., Kızılay, D., Orbak, Z., Pirgon, Ö., Polat, A., Poyrazoğlu, Ş., Sarı, E., Sağlam, H., Tarım, Ö., Tepe, D., Topaloğlu, A.K., Turan, S., Yeşilkaya, E., Yüksel, B., Çakır, E.D., Çatlı, G., Çelik, N., Çizmecioğlu, F., Ökten, A., Önal, H., Özbek, M.N., Özen, S., Özgen, T., Özhan, Bayram, Özkan, B., Ünüvar, T., Şen, Y., Şimşek, E.   +73 more
core   +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

Tarsal switch using an anterior approach to correct severe ptosis

Archives of Plastic Surgery, 2018
Background To present the outcomes of the tarsal switch procedure using an anterior approach to correct severe ptosis with poor levator muscle function (
Roberta Lilian Fernandes de Sousa Meneghim, Lucieni Barbarini Ferraz, Alicia Galindo-Ferreiro, Rajiv Khandekar, Hortensia Sanchez-Tocino, Silvana Schellini   +5 more
doaj   +1 more source

Comparative study between local and general anesthesia in the management of sever blepharoptosis by use of straight needle threading technique as frontalis suspension [PDF]

The Medical Journal of Basrah University, 2017
Aim: is to compare between the outcome and complications in the use of local and general anesthesia in the management of sever blepharoptosis by use of straight needle threading technique and silk suture as a frontalis suspension.
Amer S. Al Mansory
doaj   +1 more source

Cluster headache in Greece: an observational clinical and demographic study of 302 patients. [PDF]

, 2016
BackgroundCluster headache (CH) is considered the most excruciating primary headache syndrome; although much less prevalent than migraine, it is not rare as it affects more than 1/1000 people.
Rapoport, Alan M, Vikelis, Michail
core   +1 more source