Developmental odontogenic cysts with special focus on the occurrence of multiple cysts and syndromic association: a single-centre cross-sectional study from the Czech Republic

Authors: David Szaraz, Albert J. Ksinan, Ctirad Machacek, Petra Borilova Linhartova

Source: Orphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-13 (2025)

Subject Terms: Multiple cysts, Non-syndromic, Syndromic, NBCCS, Odontogenic keratocyst, Dentigerous cyst, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/de1f317470fb4e92b3e363282413e19d

5’tiRNA-35-GlyTCC-3 and 5’tiRNA-33-CysGCA-11 target BMP6, CUL1 and SPR of non-syndromic cleft palate

Authors: Ruimin Liu, Linxiang Zhang, Peinan Hu, Anni Liu, Yixin Zhang, Qian Liu, Jianqing Guo, Dong Han, Haiquan Yue, Baoping Zhang

Source: BMC Oral Health, Vol 25, Iss 1, Pp 1-16 (2025)

Subject Terms: tsRNA, Non-syndromic cleft palate, Microarray analysis, Enrichment analysis, RT-qPCR, Dentistry, RK1-715

File Description: electronic resource

Relation: https://doaj.org/toc/1472-6831

Access URL: https://doaj.org/article/19d13317f187489f8b384d8d367038cd

GTPBP2 in-frame deletion in canine model with non-syndromic progressive retinal atrophy

Authors: Leonardo Murgiano, Jessica K Niggel, Eylem Emek Akyürek, Roberta Sacchetto, Gustavo D. Aguirre

Source: Scientific Reports, Vol 15, Iss 1, Pp 1-15 (2025)

Subject Terms: Animal model, Non-syndromic, Protein domain, Progressive retinal atrophy, Protein function, Phenotype variability, Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/7b555b849b8d4faab1327e91a1db6879

Meta-analysis and systematic review for the genetic basis of cleft lip and palate

Authors: Wafaa Yahia Alghonemy, Mohamed Gaber Ashmawy

Source: Journal of Oral Biology and Craniofacial Research, Vol 15, Iss 1, Pp 146-152 (2025)

Subject Terms: Genetics, Cleft palate, Cleft lip, Non-syndromic cleft, Candidate genes, MTHFR, Dentistry, RK1-715

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221242682400188X; https://doaj.org/toc/2212-4268

Access URL: https://doaj.org/article/d660043387414b618e85db95a0e5e292

THBS1 is a new autosomal recessive non-syndromic hearing impairment gene

Authors: Thashi Bharadwaj, Anushree Acharya, Fati Ullah Khan, Saadullah Khan, Irfan Ullah, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal

Source: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-7 (2024)

Subject Terms: Autosomal recessive non-syndromic hearing impairment, Consanguinity, Exome sequencing, Inner ear, Thrombospondin, THBS1, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/84d50ec2ee0f465c9fe8633c54dbc0e1

A novel frameshift variant in the TMPRSS3 gene causes nonsyndromic hearing loss in a consanguineous family

Authors: Nahid Rezaie, Saeedeh Sadat Ghazanfari, Seyede Mahsa Mousavikia, Nader Mansour Samaei, Morteza Oladnabi, Abdolazim Sarli, Teymoor Khosravi

Source: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-12 (2024)

Subject Terms: TMPRSS3, Autosomal recessive non-syndromic hearing loss, Whole exome sequencing, Novel variant, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/c972b08cabbc40e98fc22fdcdd029e75

Dentoskeletal characteristics of non-syndromic pierre robin sequence and isolated incomplete cleft palate children: a retrospective case control study

Authors: Xiang Zhang, Shuang Yang, Xudong Yang, Zhibo Zhou

Source: Frontiers in Pediatrics, Vol 13 (2025)

Subject Terms: non-syndromic pierre robin sequence, cleft palate, micrognathia, dentoskeletal characteristics, pediatric, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2025.1519266/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/9e0cba59e6974c8d9f89844936f094ef

Identification of novel likely pathogenic variant in CDH23 causing non-syndromic hearing loss, and a novel variant in OTOGL in an extended Iranian family

Authors: Aliasgar Mohammadi, Marziyeh Hoseinzadeh, Sina Narrei, Mohammad Reza Pourreza, Yousof Mohammadi, Mahnaz Norouzi, Ladan Sadeghian, Mohammad Amin Tabatabaiefar

Source: Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-8 (2024)

Subject Terms: Non-syndromic hearing loss, CDH23, OTOGL, Whole exome sequencing, Sanger sequencing, Bioinformatics study, Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2090-2441

Access URL: https://doaj.org/article/b98c4e75825f442c92fc2d8bd2454865

Database-assisted screening of autism spectrum disorder related gene set

Authors: Éva Kereszturi

Source: Molecular Brain, Vol 17, Iss 1, Pp 1-9 (2024)

Subject Terms: Autism spectrum disorder, ASD-related genes, Genetic variation, Syndromic ASD, Non-syndromic ASD, Gene set enrichment analysis, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/1756-6606

Access URL: https://doaj.org/article/3c063ff8463f4f2397d7e3548720e023

What could be the role of genetic tests and machine learning of AXIN2 variant dominance in non-syndromic hypodontia? A case-control study in orthodontically treated patients

Authors: Nora Alhazmi, Ali Alaqla, Bader Almuzzaini, Mohammed Aldrees, Ghaida Alnaqa, Farah Almasoud, Omar Aldibasi, Hala Alshamlan

Source: Progress in Orthodontics, Vol 25, Iss 1, Pp 1-11 (2024)

Subject Terms: Machine learning algorithms, Non-syndromic hypodontia, Single nucleotide polymorphism, AXIN2, PAX9, MSX1, Dentistry, RK1-715

File Description: electronic resource

Relation: https://doaj.org/toc/2196-1042

Access URL: https://doaj.org/article/ec7031a8342549959a11cca4ad3e0dbe

A novel splice-altering TNC variant (c.5247A > T, p.Gly1749Gly) in an Chinese family with autosomal dominant non-syndromic hearing loss

Authors: Min He, Miaomiao Hu, Qiang Zhang, Kai Yao

Source: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-11 (2024)

Subject Terms: Tenascin-C, Novel mutation, Non-syndromic hearing loss, Autosomal dominant, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/eeefdfb0789d408f983b7a0e489f1bf3

Treatment strategy for patient with non-syndromic tooth agenesis: a case report and literature review

Authors: Tianfeng Ouyang, Dong Chen, Zeli Ma, Xin Li, Ge Cao, Lin Lin, Ming Zeng, Ting Chen

Source: BMC Oral Health, Vol 24, Iss 1, Pp 1-7 (2024)

Subject Terms: Non-syndromic tooth agenesis, Ectodysplasin A, Case report, Dentistry, RK1-715

File Description: electronic resource

Relation: https://doaj.org/toc/1472-6831

Access URL: https://doaj.org/article/e227f1d57a4e4110966f746809178041

Triad of Micrognathia, Oligodontia, and Ankyloglossia in a Non-Syndromic Individual: A Case Report with Rare Presentation

Authors: Priti Shukla, Varsha Sharma, Shivesh Acharya, Shruti Singh

Source: Journal of Pharmacy and Bioallied Sciences, Vol 16, Iss Suppl 4, Pp S4117-S4119 (2024)

Subject Terms: ankyloglossia, micrognathia, non-syndromic, oligodontia, orthodontic treatment, triad, Pharmacy and materia medica, RS1-441, Analytical chemistry, QD71-142

File Description: electronic resource

Relation: https://journals.lww.com/10.4103/jpbs.jpbs_593_24; https://doaj.org/toc/0976-4879; https://doaj.org/toc/0975-7406

Access URL: https://doaj.org/article/57a2d062f9ce478fb9bae1ea16d0508c

A morphometric analysis of the cranial base in trigonocephaly

Authors: Barnes, Courtney ^a, Madaree, Anil ^b, Lazarus, Lelika ^{a, ⁎}

Source: In Journal of Cranio-Maxillo-Facial Surgery April 2025 53(4):377-384

Mutation spectrum of GJB2, SLC26A4 and mtDNA12SrRNA genes in non-syndromic hearing loss patients from Gansu, China

Authors: Duan, Shihong, Hou, Yuan, Li, Yong, Guo, Yufen ^⁎

Source: In International Journal of Pediatric Otorhinolaryngology April 2025 191

Dentofacial phenotype of non-syndromic tooth agenesis patients with PAX9 mutation

Authors: DOU Jiaqi, GAO Jie, BIAN Xiaoling, WANG Feng, DAI Qinggang, WU Yiqun

Source: Shanghai Jiaotong Daxue xuebao. Yixue ban, Vol 44, Iss 6, Pp 687-693 (2024)

Subject Terms: paired box gene 9 (pax9), dentofacial deformities, x-ray cephalometrics, non-syndromic tooth agenesis, skeletal angle ⅲ malocclusion, Medicine

File Description: electronic resource

Relation: https://xuebao.shsmu.edu.cn/article/2024/1674-8115/1674-8115-2024-44-6-687.shtml; https://doaj.org/toc/1674-8115

Access URL: https://doaj.org/article/3ce633697c504dbc94dd0bff57f39afe

Genotype-phenotype associations in microtia: a systematic review

Authors: Siti Isya Wahdini, Fina Idamatussilmi, Rachmaniar Pramanasari, Almas Nur Prawoto, Citrawati Dyah Kencono Wungu, Indri Lakhsmi Putri, Gunadi

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-24 (2024)

Subject Terms: Microtia, Syndromic, Non-syndromic, Genotype- phenotype association, TCOF1, SIX2, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/f79a3cf98b764be885ea7b709087fa7a

Organotin exposure and DNA methylation in non-syndromic cleft lip and palate: Integrating findings from case-control studies and animal experiments

Authors: Chen, Yongyan, Cheng, Qianhui, Li, Sainan, Jin, Lei, Li, Zhiwen, Ren, Aiguo, Wang, Linlin ^⁎

Source: In Science of the Total Environment 1 December 2024 954

Novel PTPRQ variants associated with hearing loss in a Chinese family PTPRQ variants in Chinese hearing loss

Authors: Yuan Hou, Yuanzhen Shi, Longyan Liu, Shihong Duan

Source: Frontiers in Genetics, Vol 15 (2024)

Subject Terms: protein tyrosine phosphatase receptor Q, Non-syndromic hearing loss, hereditary disease, PTPRQ, next-generation sequencing, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1399760/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/c1f5e88bfb304a6fbf4f9b6f44ac82f8

Non-syndromic oropharyngeal hamartoma: A case report

Authors: Kanwar Vikrant Singh, Gurpreet Singh, Surabhi Gupta, Paromita Patra

Source: Romanian Medical Journal, Vol 71, Iss 1, Pp 49-54 (2024)

Subject Terms: non-syndromic, oropharyngeal, hamartoma, tissue lesions, tongue, excision, pediatric, Medicine (General), R5-920, Surgery, RD1-811

File Description: electronic resource

Relation: https://rmj.com.ro/articles/2024.1/RMJ_2024_1_Art-09.pdf; https://doaj.org/toc/1220-5478; https://doaj.org/toc/2069-606X

Access URL: https://doaj.org/article/99c595f6e5aa4f56b98712f8e6c077bd