Results 61 to 70 of about 2,477,262 (230)

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome

European Journal of Human Genetics
Joubert syndrome (JS) is a genetically heterogeneous neurodevelopmental ciliopathy. Despite exome sequencing (ES), several patients remain undiagnosed.
F. D’Abrusco, Valentina Serpieri, Cecilia Maria Taccagni, J. Garau, Luca Cattaneo, Monica Boggioni, S. Gana, R. Battini, Enrico Bertini, G. Zanni, E. Boltshauser, Renato Borgatti, R. Romaniello, S. Signorini, Vincenzo Leuzzi, C. Caputi, F. Manti, S. D'Arrigo, Arianna De Laurentiis, C. Graziano, Johannes R. Lemke, Federica Morelli, D. Petković Ramadža, F. Sirchia, Elisa Giorgio, E. M. Valente   +25 more
semanticscholar   +1 more source

Case report and a brief review: Analysis and challenges of prenatal imaging phenotypes and genotypes in Joubert syndrome

Frontiers in Genetics, 2022
Prenatal imaging phenotypes and genotypes were analyzed in 13 cases prenatally diagnosed with Joubert syndrome (JS), all of which underwent magnetic resonance imaging (MRI), ultrasound, and genetic testing.
Lingling Huang, Xianqi Lu, Jiao Liu, Ling Xu, N. Shang, Li Guo, Yan-Chun OuYang   +6 more
semanticscholar   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Identification of novel genes regulating the development of the palate

Developmental Dynamics, EarlyView.
Abstract Background The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro‐computed tomography (micro‐CT), the IMPC has created and publicly released three‐dimensional image data sets of embryos from these lethal and subviable lines.
Ashwin Bhaskar, Sophie Astrof
wiley   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Clinical and Imaging Profile of Patients with Joubert Syndrome

Journal of Movement Disorders, 2021
Objective Joubert syndrome (JS) is a rare syndrome characterized by ataxia and the molar tooth sign (MTS) on imaging. The present study aims to explore the clinical and radiological features in a cohort of patients with JS.
B. Surisetti, V. Holla, S. Prasad, K. Neeraja, Nitish Kamble, R. Yadav, P. Pal   +6 more
semanticscholar   +1 more source

Long‐Term Efficacy and Safety of Ligelizumab as Re‐Treatment in Patients With Chronic Spontaneous Urticaria

Allergy, EarlyView.
Ligelizumab re‐treatment in CSU patients showed sustained efficacy and tolerability. Over 50% achieved symptom control (UAS7 ≤ 6) by Week 12; benefits maintained through Week 52. No new safety signals observed; aligns with prior PEARL trial outcomes. CSU, chronic spontaneous urticaria; mg, milligram; q4w, every 4 weeks; UAS, urticaria activity score ...
Ana M. Gimenez‐Arnau, Marcus Maurer, Adam Reich, Chia‐Yu Chu, Diana Deleanu, Gordon Sussman, Jorge Sanchez, Knut Brockow, Koremasa Hayama, Michihiro Hide, Mohamed Denguezli, Raisa Meshkova, Roberta F. J. Criado, Sarbjit Saini, Solange Valle, Eva Hua, Pengpeng Wang, Alis Burciu, Isabelle Indermuehle, Vineeth Varanasi, Yolandi Joubert, Thomas Severin, Manmath Patekar   +22 more
wiley   +1 more source

Joubert Plus syndrome in a child with Dandy-Walker malformation and occipital cephalocele: A case report

Radiology Case Reports
Joubert syndrome is a rare congenital cerebral developmental malformation that primarily affects the cerebellum. It is characterized by the absence or underdevelopment of the cerebellar vermis and a malformed brain stem (molar tooth sign) on a transverse
Tsega Hagos Mehari, MD, Bemnet Mengesha Tessema, MD, Redaie Girmay Gebrekidan, MD   +2 more
doaj   +1 more source

Joubert Syndrome with a Rare Finding of Pathological Mandibular Angle Fracture [PDF]

Journal of Krishna Institute of Medical Sciences University, 2021
Joubert Syndrome (JS) is a rare congenital condition first reported by French Neurologist Marie Joubert in 1969 which shows multi-organ manifestations including developmental, neurological, renal, hepatic, ocular and orofacial abnormalities.
Vathsala Patil , Shruthi Acharya , Chandni Proothi , Pratichi Tripathi , Aditi Tamrakar, Ravindranath Vineetha   +5 more
doaj  

High Incidence of CPLANE1-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses

Balkan Medical Journal
Background: The fetal monogenic causes of early pregnancy losses (EPLs) are mainly unknown, with only a few articles on the subject published. In our previous study of EPLs using whole-exome sequencing analysis, we confirmed a genetic diagnosis of ...
G. Bozhinovski, M. Terzikj, Katerina Kubelka-Sabit, D. Plaseska‐Karanfilska   +3 more
semanticscholar   +1 more source