Results 101 to 110 of about 2,206,324 (288)

Joubert Syndrome Presenting With Oculomotor Apraxia and Motor Developmental Delay: A Case Report From a Neuro-Ophthalmology Clinic in Saudi Arabia

Cureus, 2022
Joubert syndrome is an autosomal recessive genetic disorder that was first described in 1969. It can present with neonatal respiratory distress, ocular motility abnormalities, developmental delays, and other congenital cerebellar malformations.
Rahaf A Mandura, Nawal A Arishi
semanticscholar   +1 more source

Genetic diseases with impaired central respiratory control

The EuroBiotech Journal, 2017
Respiration is controlled by the complex orchestration of central nervous system centers, peripheral chemoreceptors and muscles of respiration and is shaped by complex ontogenetic factors.
Rosso Lourdes M. Del, Ferri Raffaele
doaj   +1 more source

Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina:insights into X-linked Retinitis Pigmentosa and associated ciliopathies [PDF]

, 2008
Mutations in the cilia-centrosomal protein Retinitis Pigmentosa GTPase Regulator (RPGR) are a frequent cause of retinal degeneration. The RPGR gene undergoes complex alternative splicing and encodes multiple protein isoforms. To elucidate the function of
Akimoto, Anand Swaroop, Baala, Babak Behnam, Badano, Ben Margolis, Besharse, Bird, Boylan, Brancati, Breuer, Buraczynska, Cai, Chang, den Hollander, Deretic, Doxsey, Ferreira, Fishman, Fishman, Fleischman, Follit, Fujita, Fujita, Gieser, Han, Haycraft, Hemant Khanna, Hong, Hong, Hong, Hong, Hong, Hong, Hunter, Iannaccone, Jay, Kapranov, Khanna, Kim, Kirschner, Koenekoop, Linari, Liu, Liu, Low, Lu, Lu, Mavlyutov, Mears, Meindl, Melamud, Moore, Moritz, Neidhardt, Otto, Perrault, Renault, Roepman, Roepman, Rosenbaum, Rosenbaum, Sayer, Schwahn, Sharon, Shirley He, Shu, Shu, Singla, Sunil K. Parapuram, Toby W. Hurd, Tsvetkov, Valente, van Dorp, Vervoort, Vervoort, Wright, Yan, Young, Zhang, Zito   +80 more
core   +1 more source

Flower scent, pollinators, and effects of proximity between plants on fruit set of the rare, threatened, and endemic Daphne rodriguezii

Plant Species Biology, Volume 40, Issue 2, Page 136-147, March 2025.
The study investigated the volatile organic compounds profile of Daphne rodriguezii's floral aroma, a rare and threatened endemic species. Moths were identified as the main pollinators due to their evening and night activity. From a conservationist methodological perspective, plant proximity needs to be considered in this species.
Carles Cardona, Pere Ferriol, Leonardo Llorens   +2 more
wiley   +1 more source

A case report of joubert syndrome in adult presenting with seizures [PDF]

, 2014
Joubert syndrome (JS) is rare autosomal recessive condition characterized by hypotonia, ataxia, psychomotor delay, and variable occurrence of oculomotor apraxia and neonatal breathing abnormalitie,intellectual disability, and specific mid-hindbrain ...
Nayaib Hashmi, Ramla, ul Kiram, Umm
core   +1 more source

Ataxia in children: early recognition and clinical evaluation [PDF]

, 2017
Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele, Lubrano, Riccardo, Pavone, Piero, Pavone, Vito, Praticò, Andrea D., Rizzo, Renata, Ruggieri, Martino   +6 more
core   +1 more source

Human asthenozoospermia: Update on genetic causes, patient management, and clinical strategies

Andrology, EarlyView.
Abstract Background In mammals, sperm fertilization potential relies on efficient progression within the female genital tract to reach and fertilize the oocyte. This fundamental property is supported by the flagellum, an evolutionarily conserved organelle, which contains dynein motor proteins that provide the mechanical force for sperm propulsion and ...
Emma Cavarocchi, Maëva Drouault, Joao C. Ribeiro, Violaine Simon, Marjorie Whitfield, Aminata Touré   +5 more
wiley   +1 more source

The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity

Translational Science of Rare Diseases, 2019
Joubert syndrome (JS; MIM PS213300) is a rare, typically autosomal recessive disorder characterized by cerebellar vermis hypoplasia and a distinctive malformation of the cerebellum and brainstem identified as the “molar tooth sign” on brain MRI.
M. Parisi
semanticscholar   +1 more source

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort

Clinical Genetics, EarlyView.
This study analyzes 94 IRD patients from a Turkish cohort using a 141‐gene NGS panel, achieving a 74% diagnostic yield. The identification of 28 novel variants highlights the genetic diversity of IRDs in Türkiye and underscores the value of population‐specific molecular testing.
Şenol Demir, Esra Arslan Ateş, Orkun Sevik, Bengisu Sözer, Tuğba Köse, Özlem Şahin, Ahmet Arman, Bilgen Bilge Geçkinli   +7 more
wiley   +1 more source

Joubert Syndrome Diagnosed at 16+6 Weeks Gestation and Molar Tooth Sign by 3D Modality

Journal of Bahria University Medical and Dental College, 2021
Joubert’s syndrome is a rare genetic disorder. It is an autosomal recessive neuro-developmental disorder involving mid and hind brain. This report describes a fetus at gestational age 16weeks+ 6 days, who presented with characteristic Molar tooth sign ...
Prabha Sinha, Shabnum Sibtain
doaj   +1 more source