Results 101 to 110 of about 12,592,373 (135)

Central Nervous System Tumors in Xeroderma Pigmentosum: Five Cases and Review of the Literature

Movement Disorders, Volume 41, Issue 9, Page 2523-2528, September 2026.
Abstract Background Xeroderma pigmentosum (XP) is a rare autosomal recessive DNA‐repair disorder characterized by extreme ultraviolet radiation (UVR) sensitivity, markedly increased cutaneous malignancy risk, and progressive neurological disease in approximately one‐third of patients.
Farrah S. Bakr, Huseyin Arisoy, Alan R. Lehmann, Paola Giunti, Hiva Fassihi   +4 more
wiley   +1 more source

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long‐Read Sequencing and RNA Analysis

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
Long‐read sequencing phased multiple VPS41 variants and established the biallelic configuration in a patient with autosomal recessive spinocerebellar ataxia 29. Transcript analysis revealed distinct allele‐specific splicing abnormalities, while the patient also showed clinical features beyond the typical phenotype.
Natsuki Nakamura, Yosuke Nishio, Hiromi Nyuzuki, Ai Fukushima, Masaki Miura, Yu Kobayashi, Risako Ishioka, Kotaro Tsukada, Yasuyoshi Oka, Koyo Tsujikawa, Hironobu Morinaga, Mie Inaba, Jun Tohyama, Yuka Nakazawa, Takeshi Ikeuchi, Takeshi Ono, Shinji Saitoh, Tomoo Ogi   +17 more
wiley   +1 more source

A new gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p

, 1997
: Autosomal recessive non-syndromic hearing loss (ARNSHL) is the most common form of prelingual inherited hearing impairment. A small consanguineous family with this disorder was ascertained through the Institute of Basic Medical Sciences in Madras ...
Scott, D.A., Lovett, M., Srikumari Srisailpathy, C.R., Ramesh, A., Zbar, R.I.S., Wayne, S., Srisailapathy, C.R.S., Smith, R.J.H., Bell, A., Ashley, J., Sheffield, V.C., van Hauwe, P., Van Camp, Guy, Chen, A.   +13 more
core  

Autosomal Recessive Non-Syndromic Hearing Loss: A Case Report with a Novel TRIOBP Gene Variant

Case Reports in Clinical Practice
In the present case report, we have found a novel variant for TRIOBP in a patient with congenital hearing loss. The patient is an 8-year-old female with hearing loss, the first child of consanguineous parents.
Shweta Jangam, Manju Kurup, Preeti Arora, Shruti Jawale, Prashant Duraphe, Sanjay Gupte   +5 more
doaj   +1 more source

Mutation Spectrum and Novel Rare Variants in a Han Chinese Hearing Loss Cohort Using a Tiered Sequencing Strategy

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
In a Han Chinese hearing‐loss cohort from Southwest China, a tiered strategy combining targeted hotspot screening and whole‐exome sequencing established molecular diagnoses in 25 patients, including one involving a CDH23 truncating variant not previously reported in Han Chinese patients with hearing loss, and identified a candidate SLC12A2 variant ...
Yu Zhang, Shimei Yuan, Yafang Wan, Tian Li, Lanlan Xu, Wei Yang, Changchun Niu   +6 more
wiley   +1 more source

Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease‐Causing Variants in TCOF1 and POLR1D

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
Targeted next‐generation sequencing of South African patients with suspected Treacher Collins syndrome identified pathogenic variants in six cases, including multiple novel TCOF1 and POLR1D variants. These findings expand the African mutational spectrum and support panel‐based testing to improve diagnosis and genetic counselling in resource‐limited ...
Patracia Nevondwe, Maria Mudau, Heather Seymour, Robyn Kerr, Zané Lombard, Amanda Krause, Nadia Carstens   +6 more
wiley   +1 more source

Compound Heterozygous PCDH15 Variants Associated With Cone‐Rod Dystrophy in a Chinese Pedigree

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
This study represents the first report suggesting a genotype–phenotype relationship between PCDH15 genetic variants and isolated retinal manifestations absent auditory impairment or syndromic features, thereby providing preliminary evidence that may broaden the mutational spectrum associated with this gene.
Lei Zhang, Qianfeng Wang, Haiyan Wang, Wei Jia, Bowen Zhang, Ru Wang, Wei Qiang, Shuwei Bai   +7 more
wiley   +1 more source

Prenatal Spectrum of COL2A1‐Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports

Prenatal Diagnosis, Volume 46, Issue 10, Page 1637-1647, September 2026.
ABSTRACT Objective To review the published literature on prenatal findings of COL2A1‐related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center. Method A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings ...
López‐Rodríguez Larissa, León‐Madero Luis Felipe, Jiménez‐Chaidez Salvador, Gallardo‐Gaona Juan Manuel, Rodríguez‐Sibaja María Jose, Castañeda‐de‐la‐Fuente Angelica, Del Castillo‐Reyes Katia Alejandra, Yañez‐Felix Ana Lucia, Morales‐Dominguez Valeria, Borboa‐Olivares Héctor Jesús, Sevilla‐Montoya Rosalba   +10 more
wiley   +1 more source

مطالعه‌ی لوکوس 3DFNB وابسته به ناشنوایی غیر سندرمیک اتوزومال مغلوب در جمعیتی از ناشنوایان ایرانی با روش آنالیز پیوستگی ژنتیکی

مجله دانشکده پزشکی اصفهان, 2014
مقدمه: ناشنوایی یک اختلال شایع می‌باشد که به طور معمول، هتروژنی ژنتیکی را در جمعیت‌های انسانی نشان می‌دهد. بروز ناشنوایی مادرزادی به میزان 1 در هر 500 تولد محاسبه شده است که حدود 70 درصد این موارد به عوامل ژنتیکی نسبت داده می‌شوند. نقص ژنتیکی ناشنوایی به
Somayeh Reiisi, Mohammad Hossein Sanati, Mohammad Amin Tabatabaiefar, Hamid Reza Pourjafari, Zarrin Minuchehr, Afsaneh Shavarzi, Mitra Ataie, Mahbobeh Kasiri, Morteza Hashemzadeh Chaleshtori   +8 more
doaj  

Expanding Spectrum of FIG4‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations

Clinical Genetics, Volume 110, Issue 3, Page 363-368, September 2026.
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley   +1 more source