Results 61 to 70 of about 1,250,329 (187)

Joubert Syndrome in Three Children in A Family: A Case Series [PDF]

, 2013
How to Cite This Article: Akhondian J, Ashrafzadeh F, Beiraghi Toosi M, MOazen N, Mohammadpoor T, Karimi R. Joubert Syndrome in Three Children in a family: A Case Series. Iran J Child Neurol. 2013 Winter: 7(1); 39-42. Joubert  syndrome  (JS)  is  a  rare 
MOHAMMADPOOR, Toktam, MOAZEN, Nasrin, AKHONDIAN, Javad, ASHRAFZADEH, Farah, BEIRAGHI TOOSI, Mehran, KARAMI, Reza   +5 more
core   +1 more source

Pontine Tegmental Cap Dysplasia Presenting With Global Developmental Delay and Vestibulocochlear Nerve Aplasia: A Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT PTCD should be considered in children with developmental delay and sensorineural hearing loss. MRI is crucial for identifying the characteristic dorsal “tegmental cap” and associated hindbrain anomalies. Vestibulocochlear nerve aplasia may explain severe hearing impairment in PTCD.
Khawar Bilal, Muhammad Owais Rao, Syed Muhammed Salman Hassan, Arnella Husenaj Tagani, Naila Nadeem, Sarim Hassan Shahab, Fazal Habib   +6 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

Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene’s pathogenic mechanism

Frontiers in Pediatrics
Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental condition characterized by congenital mid-hindbrain abnormalities and a variety of clinical manifestations. This article describes a case of Joubert syndrome type 21 with microcephaly,
Caichuan Wei, Haiju Zhang, Miaoying Fu, Jingping Ye, Baozhen Yao   +4 more
doaj   +1 more source

Deconstructing Ataxia with Oculomotor Apraxia: Toward a Gene‐Based Classification and a Reappraisal of the Oculomotor Phenotype

Movement Disorders Clinical Practice, EarlyView.
Luiz Eduardo Novis, Flávio Moura Rezende Filho, Anna Maria Gomes, Victor Rebelo Procaci, Orlando Graziani Povoas Barsottini, José Luiz Pedroso   +5 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

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

South African Herbal Teas and Diabetes‐Mediated Mitochondrial Dysfunction: Emerging Evidence and Mechanistic Insights

Journal of Food Science, Volume 91, Issue 8, August 2026.
ABSTRACT Type 2 diabetes mellitus (T2DM) is a central component of the metabolic syndrome (MetS) and is associated with underlying mitochondrial dysfunction. Disruption of mitochondrial homeostasis impairs cellular energy metabolism and contributes to the overproduction of reactive oxygen species (ROS), leading to oxidative stress, chronic inflammation,
Shanika Reddy, Naeem Sheik Abdul, Taskeen Fathima Docrat, Jeanine Marnewick   +3 more
wiley   +1 more source

Joubert Syndrome: A Case Report

, 2018
Joubert syndrome (JS) isa rare autosomal recessive neuro developmental disorder involving cerebellar vermis and brainstem, marked by agenesis of cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing problems and mental retardation.
Mohan Raj Sharma, Gopal Sedain, Amit K Pradhanang, Binod Raj Bhandari, Sushil Krishna Shilpakar, Prakash Kafle   +5 more
core   +1 more source

Coping, Subjective Burden and Mental Health in Family Carers of Dependent Children and Adolescents: A Systematic Review With Meta‐Analysis

Journal of Psychiatric and Mental Health Nursing, Volume 33, Issue 4, Page 573-598, August 2026.
ABSTRACT Introduction Caring for dependent children and adolescents places a substantial emotional and psychological burden on families. Coping strategies may influence the mental health of family carers. Aim To systematically review how coping strategies relate to subjective burden, anxiety, and depressive symptoms in family carers of dependent ...
Juan Carlos Muñoz‐Cruz, Catalina López‐Martínez, Vasiliki Orgeta, Rafael Del‐Pino‐Casado   +3 more
wiley   +1 more source