Results 31 to 40 of about 5,402 (155)

Jobert syndrome ‘’ a rare cause of liver dysfunction’’

The Turkish Journal of Gastroenterology, 2019
INTRODUCTION: Joubert syndrome is an autosomal recessive inherited disease with no specific gene mutation. Diagnosis is made by the evaluation of clinical and radiological findings.
Salih Kılıç, Abdullah Mübin Özercan, Mehmet Yalnız, Ibrahim Halil Bahçecioğlu   +3 more
doaj   +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

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

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Broadening horizons: Pathogenesis and therapeutics of renal ciliopathies

Journal of Cell Communication and Signaling, Volume 20, Issue 3, September 2026.
This review elucidates the molecular mechanisms and aberrant signaling pathways in renal ciliopathies, links genetic heterogeneity to clinical phenotypes, and lays a theoretical basis for prenatal diagnosis and novel therapies. Abstract Renal ciliopathies encompass a spectrum of genetic disorders arising from structural or functional impairments of ...
Qiaowei Zhang, Shuwen Xue, Zhi Gao, Panlai Shi, Li Wang, Qi Feng, Xiangdong Kong, Xiaofan Zhu   +7 more
wiley   +1 more source

What Is a Clinically Meaningful Change in Diabetes Distress? Findings for Diabetes Care and Research From the SFDT1 Cohort

Diabetes, Obesity and Metabolism, Volume 28, Issue 9, Page 7905-7915, September 2026.
ABSTRACT Aims Diabetes distress (DD) is common and evolves heterogeneously over time. We aimed to estimate minimal clinically important differences (MCID) for the Problem Areas in Diabetes (PAID) scale and its sub‐dimensions and to identify predictors of worsening over 1 year in people with type 1 diabetes (PwT1D).
Dulce Canha, Jean‐Pierre Riveline, Fatima Kazanlieva, Gloria A. Aguayo, Charline Bour, Bruno Vergès, Pierre‐Yves Benhamou, Michaël Joubert, Fawaz Alzaid, Emmanuel Cosson, Guy Fagherazzi   +10 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

Identification of novel genes regulating the development of the palate

Developmental Dynamics, Volume 255, Issue 8, Page 808-823, August 2026.
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

Signe de àla dent molaire à: aspect caractéristique en IRM du syndrome de Joubert

The Pan African Medical Journal, 2015
Le syndrome de Joubert est une affection génétique rare, de transmission autosomique récessive, caractérisé par une malformation congénitale du tronc cérébral et une agénésie ou une hypoplasie du vermis cérébelleux entraînant des troubles respiratoires ...
Manel Jellouli, Tahar Gargah
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