Results 91 to 100 of about 12,592,373 (135)

Genetic linkage analysis of DFNB40 and DFNB48 loci in families with autosomal recessive non-syndromic hearing loss (ARNSHL) from western provinces of Iran [PDF]

, 2016
Background: Sensorineural hearing loss (SNHL) is the most common sensory disorder and 1 in every 500-1000 newborns is affected. Non-syndromic SNHL accounts for 70% of hereditary hearing loss and 80% of SNHL cases have an autosomal recessive mode of ...
Reiisi, Somayeh., Fattahi, Najmeh., Tabatabaiefar, Mohammad Amin., Pourahmadiyan, Azam., Alipour, Paria., Hashemzadeh-Chaleshtori, Morteza.   +5 more
core   +1 more source

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +1 more source

Study of the association of DFNB3 locus with autosomal recessive non-syndromic hearing loss in iranian deaf population using genetic linkage analysis [PDF]

, 2014
Background: Hearing loss is a common sensory disorder that typically illustrates genetic heterogeneity in human populations. The incidence of congenital hearing loss is estimated at 1 in 500 births of which approximately 70 of cases are attributed to ...
Sanati, Mohammad Hossein., Shavarzi, Afsaneh., Reiisi, Somayeh., PourJafari, Hamid Reza., Tabatabaiefar, Mohammad Amin., Ataiee, Mitra., Minuchehr, Zarrin., Hashemzadeh-Chaleshtori, Morteza., kasiri, mahboobeh.   +8 more
core   +1 more source

The Prevalence of GJB2 Mutation (35delG) in Patients With Non-syndromic Hearing Loss From Northern Iranian Population [PDF]

Caspian Journal of Neurological Sciences
Background: Biallelic mutations in GJB2 are responsible for over half of all autosomal recessive non-syndromic hearing loss (ARNSHL) cases, establishing it as the most critical locus for this disorder globally.
Shadman Nemati, Alireza Sharafshah, Ali Albonaim, Masoumeh Khani, Ali Faghih Habibi, Samin Abed, Parvaneh Keshavarz   +6 more
doaj  

A novel missense pathogenic variant c.9455T > G (p.L3152R) in CDH23 underlies autosomal recessive non-syndromic hearing loss

Egyptian Journal of Medical Human Genetics
Background Hearing loss (HL) is the most common sensory-neural defect worldwide and the second most common disability in Iran. This study aimed to identify the genetic cause of autosomal recessive non-syndromic hearing loss (ARNSHL) in a large Iranian ...
Ladan Sadeghian, Marziyeh Hoseinzadeh, Mohammad reza Pourreza, Saeed Khalili, Najmeh Fattahi, Mohammad Amin Tabatabaiefar   +5 more
doaj   +1 more source

Mitochondrial CLPP in Health and Disease: Mechanisms, Therapeutic Duality and Emerging Opportunities

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
The graphical abstract illustrates the context‐dependent therapeutic modulation of CLPP. Pharmacological CLPP activation has reached clinical application in cancer (black arrow), whereas reduced CLPP activity has shown beneficial effects experimentally in models of primary mitochondrial disease and metabolic syndrome, as well as cancer (grey arrows ...
Lea Isermann, Aleksandra Trifunovic
wiley   +1 more source

Unmasking Mucopolysaccharidosis Type I in a Patient With Wolf–Hirschhorn Syndrome: Diagnostic Overshadowing

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Mucopolysaccharidosis Type I (MPS I) is a rare lysosomal storage disorder caused by α‐l‐iduronidase deficiency, leading to glycosaminoglycan accumulation and multisystem involvement. Wolf–Hirschhorn Syndrome (WHS) is a chromosomal disorder characterized by growth delay, dysmorphism, and developmental impairment.
Karla Cifuentes‐Uribe, Sandrine Girard, Roseline Froissart, Magali Pettazzoni, Nathalie Guffon   +4 more
wiley   +1 more source

Genetics of Non-Syndromic Autosomal Recessive Mental Retardation [PDF]

, 2013
Non-syndromic mental retardation is one of the most serious neurodevelopmental disorders, which has a serious impact not only on the affected individuals and their families but also on the health care system and society. Previously research has been more
Afroze, Bushra, Chaudhry, Bushra
core  

Advances in FGF/FGFR Signaling: Implications for Disease and Therapy

MedComm, Volume 7, Issue 9, September 2026.
The FGF/FGFR signaling is indispensable for the maintenance of physiological homeostasis and governs multiple biological processes, including embryonic development, bone metabolism, angiogenesis, and neurogenesis, whereas aberrant hyperactivation of this pathway drives the progression of malignancies and autoimmune disorders, including inflammatory ...
Miaoyu Song, Xi Liu, Yang Xiao, Yongsheng Li, Huakan Zhao   +4 more
wiley   +1 more source

Molecular diagnosis of non-syndromic hearing loss in seven Iranian families using whole-exome sequencing

BMC Medical Genomics
Background Congenital hearing loss is a common and genetically diverse sensory disorder. Non-syndromic forms are often inherited in an autosomal recessive pattern, with the types and frequencies of clinically relevant variants differing across ...
Fateme Zahedi Abghari, Emran Esmaeilzadeh, Sajjad Biglari, Hossein Ghasemi, Marzieh Mohseni, Narges Shahmohammad, Hamid Reza Khorram Khorshid, Reza Najafipour   +7 more
doaj   +1 more source