Results 61 to 70 of about 18,317 (239)

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients

Clinical Genetics, EarlyView.
This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut, Umut Altunoglu, Şahin Avcı, Tuğba Kalaycı, Ayça Dilruba Aslanger, Volkan Karaman, Zehra Oya Uyguner, Hülya Kayserili   +7 more
wiley   +1 more source

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases

Clinical Genetics, EarlyView.
We report a 2‐year‐old male with clinical features of Takenouchi‐Kosaki syndrome, bilateral colobomas, and a de novo, likely pathogenic missense variant in CDC42. Supportive evidence includes a Cdc42 conditional knock‐out mouse model with colobomas.
Diana Brightman, Nawaal Shinwari, Aleksey Porollo, Eniolami O. Dosunmu, Ehsan Ullah, Bin Guan, Robert B. Hufnagel, Brian P. Brooks, Delphine Blain, Sabine Fuhrmann, Brittany Simpson, Anne M. Slavotinek   +11 more
wiley   +1 more source

Clinical and Neurodevelopmental Characteristics of Paralogous Gain‐of‐Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803

Clinical Genetics, EarlyView.
Key features of paralogous GRIA2 and GRIA3 gain‐of‐function variants. ABSTRACT GRIA‐related disorders arise from disease‐causing variants in GRIA1, GRIA2, GRIA3, or GRIA4 that encode α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazole propionic acid (AMPA)‐type glutamate receptors (AMPARs).
Emilie Sjøstrøm, Dorota Studniarczyk, Xinyao Dou, Rebekka S. Dahl, Vincent Cruz, Heng Wang, Sandra Mercier, Wallid Deb, Thomas Besnard, Jennifer Friedman, Miriam Essid, Sana Karoui, Lamia Ben Jemaa, Thouraya Benyounes, Gaetan Lesca, Davide Tonduti, Maria Iascone, Simona Orcesi, Melanie Fradin, Christèle Dubourg, Silvia Napuri, Stuart G. Cull‐Candy, Ian D. Coombs, Mark Farrant, Allan Bayat   +24 more
wiley   +1 more source

Clinical and Molecular Characterization of Xia–Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort

Clinical Genetics, EarlyView.
We present a clinical and molecular characterization of 16 Brazilian individuals with Xia–Gibbs syndrome, identifying 12 novel AHDC1 variants and four phenotypes not previously associated. Our findings support existing genotype–phenotype associations and suggest a new relation, expanding the known phenotypic and genetic spectrum of the syndrome ...
Maísa Ganz Sanchez Sennes, Laura Machado Lara Carvalho, Matheus Augusto Araújo Castro, Giovana Manilli Toccoli, Sofia de Oliveira Farias, Davi Mendes Campo Fialho, Eny Maria Goloni Bertollo, Erika Cristina Pavarino, Larissa Sampaio de Athayde, Cecilia Barbosa Buck, Maria Betânia Pereira Toralles, Maria Isabel Melaragno, Mariluce Riegel‐Giugliani, Gustavo Marquezani Spolador, Paulo Alberto Otto, Caroline Brandão Piai, Fernando Kok, Ceres Schmitz Cechella, Carla Rosenberg, Juan Clinton Llerena, Débora Romeo Bertola, Salmo Raskin, Chong Ae Kim, Ana Cristina Victorino Krepischi   +23 more
wiley   +1 more source

A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly

Clinical Genetics, EarlyView.
Summary of clinical and molecular findings in patients with biallelic variants in PDCD6IP.
Alfonso Manuel D'Alessio, Annalaura Torella, Manuela Morleo, Vincenzo Nigro, TUDP Study Group, Nicola Brunetti‐Pierri   +5 more
wiley   +1 more source

Gaucher disease, state of the art and perspectives

Journal of Internal Medicine, EarlyView.
Abstract Knowledge about Gaucher disease (GD), considered a model for rare diseases, has considerably increased since its discovery. The pathophysiology of this lysosomal disorder is better known, and specific therapies that can control many aspects of the disease have been developed, particularly for the most common form, Type 1 GD.
Fabrice Camou, Marc G. Berger
wiley   +1 more source

Does Topical Proparacaine Improve Postoperative Comfort After Strabismus Surgery?

Clinical Ophthalmology, 2019
Robert W Arnold,1 Aleah N Bond2 1Pediatric Ophthalmology and Strabismus, Alaska Children’s EYE & Strabismus, Anchorage, AK 99508, USA; 2Department of Anesthesiology, Wake Forest Baptist Medical Center, Winston-Salem, NC 27101, USACorrespondence:
Arnold RW, Bond AN
doaj  

The oculocardiag reflex during strabismus surgery [PDF]

, 1964
George T Moonie, Donald L Rees, Denzil Elton   +2 more
openalex   +1 more source

Accommodative behaviour and retinal defocus of children during prolonged viewing of electronic devices while wearing dual‐focus myopia control soft contact lenses

Ophthalmic and Physiological Optics, EarlyView.
Abstract Purpose Chronic hyperopic defocus from inadequate accommodation during near tasks may be associated with axial eye growth. This study examined accommodative behaviour and retinal defocus in myopic and emmetropic children after 1 h of continuous electronic device use.
Neeraj K. Singh, Pete Kollbaum
wiley   +1 more source

Factors associated with strabismus after cataract extraction and primary intraocular lens implantation in congenital cataracts

International Journal of Ophthalmology, 2014
AIM: To evaluate factors associated with the development of strabismus after cataract extraction and primary intraocular lens implantation.METHODS: The medical records of 122 patients, aged 1.5mo to 9y, who had undergone cataract extraction with primary ...
Soo Jung Lee, Wan-Soo Kim
doaj   +1 more source