Results 81 to 90 of about 12,028 (292)

Microrobotic Catheterization of the Ophthalmic Artery for Targeted Treatment of Retinoblastoma

Advanced Intelligent Systems, EarlyView.
A microrobotic platform is presented that allows teleoperated and autonomous navigation of flow‐driven magnetic microcatheters, MagFlow, into the ophthalmic artery for superselective intra‐arterial infusion of chemotherapy to treat retinoblastoma. Extensive benchtop validations with patient‐derived biomimetic phantoms under optical and fluoroscopic ...
Artur Banach, Mehdi Krichen, Julian Raub, Christina Stathopoulos, Bruno Bartolini, Mahmut Selman Sakar   +5 more
wiley   +1 more source

Study of the ocular findings in Stevens-Johnson syndrome patients from a tertiary ophthalmologic center [PDF]

, 2009
PURPOSE: To evaluate the epidemiology, possible etiologic factors, complications and treatment of a group of patients with ocular complications secondary to Stevens-Johnson syndrome.
Cunha, Marcelo, Franca, Marciel Dourado, Freitas, Denise de, Gomes, José Álvaro Pereira, Lima, Jane Palma Galrão   +4 more
core   +3 more sources

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

American Journal of Medical Genetics Part A, EarlyView.
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

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Comparative analysis of delivery of primary eye care in three European countries [PDF]

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Jahn, Rebecca, Thomas, Dominik, Walendzik, Anke, Wasem, Jürgen, Weegen, Lennart   +4 more
core  

Interference microscopy delineates cellular proliferations on flat mounted internal limiting membrane specimens. [PDF]

, 2009
Aim: To demonstrate that interference microscopy of flat mounted internal limiting membrane specimens clearly delineates cellular proliferations at the vitreomacular interface.
Gandorfer, Arnd, Haritoglou, Christos, Kampik, Anselm, Scheler, R., Schumann, Ricarda   +4 more
core   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Estudio comparativo de 2 técnicas quirúrgicas para la cirugía del pterigión primario Comparative study of 2 surgical techniques for the operation of primary Pterygium

Revista Cubana de Oftalmología, 2000
Realizamos un estudio comparativo de 2 técnicas quirúrgicas para la cirugía del Pterigión Primario. Nuestra muestra estuvo conformada por 100 pacientes portadores del Pterigión Primario Grado II, que fueron enviados a una consulta creada al efecto, según
Leonor R Díaz Alfonso, Elvira Machado Héctor, Hernán García Álvarez, Juan Alegre Núñez   +3 more
doaj  

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Influence of silicone oil tamponade after vitrectomy on intraocular pressure [Tamponada silikonskim uljem i njezin utjecaj na vrijednosti intraokularnog tlaka] [PDF]

, 2013
The aim of this prospective study was to determine the possible influence of the silicone oil tamponade after vitrectomy on the early intraocular pressure (IOP) elevation, which is a major risk factor for developing secondary glaucoma in patients with ...
Barać, Josip, Biuk, Dubravka, Matić, Mate, Matić, Suzana, Popović Suić, Smiljka, Vinković, Maja   +5 more
core