U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 277

1.
A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family
Suyun Chen, Guangbiao Xu, Zhixin Zhao, Juping Du, Bo Shen, Chunping Li
BMC Med Genomics. 2024; 17: 108. Published online 2024 Apr 26. doi: 10.1186/s12920-024-01878-8
PMCID:
PMC11046743
ArticlePDF–1.8M
2.
Clinicopathological Features of Hereditary Nephritis in the Iranian Population: Analysis of a 14-Year Survey in Kidney Biopsies From a Large Referral Center
Amir Emami, Fatemeh Nili, Maryam Sotoudeh Anvari, Samaneh Salarvand, Golnar Seirafi
Arch Iran Med. 2024 Jan; 27(1): 8–14. Published online 2024 Jan 1. doi: 10.34172/aim.2024.02
PMCID:
PMC10915930
ArticlePDF–751K
3.
Tug-of-Peace: Visual Rivalry and Atypical Visual Motion Processing in MECP2 Duplication Syndrome of Autism
Daria Bogatova, Stelios M. Smirnakis, Ganna Palagina
eNeuro. 2024 Jan; 11(1): ENEURO.0102-23.2023. Prepublished online 2023 Nov 8. Published online 2024 Jan 16. doi: 10.1523/ENEURO.0102-23.2023
PMCID:
PMC10792601
ArticlePDF–1.0M
4.
Oculo-facio-cardio-dental (OFCD) syndrome: a case report
Tung Thanh Nguyen, Anh Thai Hoang Truong, Vu Anh Hoang, Duong Van Huynh, Tuan Van Nguyen, Chanh Trung Le, Dung Thi Phuong Dang, Minh Huu Nhat Le
J Med Case Rep. 2024; 18: 18. Published online 2024 Jan 4. doi: 10.1186/s13256-023-04244-x
PMCID:
PMC10765806
ArticlePDF–1.7M
5.
Tetraparesis following thoracic spine surgery in a patient with Klippel–Feil syndrome and ABCB4 mutation: a case report
Michele Da Broi, Aria Nouri, Gildas Patet, Luca Paun, Andrea Bartoli, Granit Molliqaj, Karl Schaller, Enrico Tessitore
J Med Case Rep. 2023; 17: 528. Published online 2023 Dec 23. doi: 10.1186/s13256-023-04263-8
PMCID:
PMC10748435
ArticlePDF–1.2M
6.
Neonatal Kabuki syndrome caused by KMT2D mutation: A case report
Zhang Li, Zou Ning
Medicine (Baltimore) 2023 Dec 15; 102(50): e36681. Published online 2023 Dec 15. doi: 10.1097/MD.0000000000036681
PMCID:
PMC10727567
ArticlePDF–590K
7.
Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India
Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan, Indar Kumar Sharawat, Kavita Srivastava, Nitish Vora, Rahul Badheka, Sumita Danda, Umesh Kalane, Anupriya Kaur, Priyanka Madaan, Sanjiv Mehta, Sandeep Negi, Prateek Kumar Panda, Surekha Rajadhyaksha, Arushi Gahlot Saini, Lokesh Saini, Siddharth Shah, Varunvenkat M. Srinivasan, Renu Suthar, Maya Thomas, Sameer Vyas, Naveen Sankhyan, Jitendra Kumar Sahu
Epilepsia Open. 2023 Dec; 8(4): 1383–1404. Published online 2023 Aug 25. doi: 10.1002/epi4.12811
PMCID:
PMC10690684
ArticlePDF–4.6M
8.
Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome
Michal Levy, Lily Bazak, Noa Lev-El, Rotem Greenberg, Nesia Kropach, Lina Basel-Salmon, Idit Maya
Genes (Basel) 2023 Oct; 14(10): 1854. Published online 2023 Sep 23. doi: 10.3390/genes14101854
PMCID:
PMC10606019
ArticlePDF–435K
9.
REPRODUCTIVE OPHTHALMOLOGY: The Intersection of Inherited Eye Diseases and Reproductive Technologies
JONG G. PARK, CHRISTINE L. XU, ALLISON BOYD, LUSINE AGHAJANOVA, VINIT B. MAHAJAN, EDWARD H. WOOD
Retina. Author manuscript; available in PMC 2023 Oct 23.
Published in final edited form as: Retina. 2022 Nov 1; 42(11): 2025–2030. doi: 10.1097/IAE.0000000000003591
PMCID:
PMC10593127
ArticlePDF–207K
10.
Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice
Constantinos Deltas, Gregory Papagregoriou, Stavroula F. Louka, Apostolos Malatras, Frances Flinter, Daniel P. Gale, Susie Gear, Oliver Gross, Julia Hoefele, Rachel Lennon, Jeffrey H. Miner, Alessandra Renieri, Judy Savige, A. Neil Turner
Genes (Basel) 2023 Sep; 14(9): 1686. Published online 2023 Aug 25. doi: 10.3390/genes14091686
PMCID:
PMC10530214
ArticlePDF–848K
11.
Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation—Case Report and Review of the Literature
Adel Shalata, Marina Bar-Shai, Yarin Hadid, Muhammad Mahroum, Hila Mintz, Zaher Eldin Shalata, Evgeny Radzishevsky, Jacob Genizi, Avraham Lorber, Tamar Ben-Yosef, Liat Yaniv
Genes (Basel) 2023 Aug; 14(8): 1539. Published online 2023 Jul 27. doi: 10.3390/genes14081539
PMCID:
PMC10454823
ArticlePDF–3.0M
12.
Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome
Lei Liang, Haotian Wu, Zeyu Cai, Jianrong Zhao
BMC Med Genomics. 2023; 16: 192. Published online 2023 Aug 18. doi: 10.1186/s12920-023-01623-7
PMCID:
PMC10436629
ArticlePDF–2.4M
13.
Clinical manifestations and MRI features of Danon disease: a case series
Yang Zhang, Ren Zhao, Yushan Yuan, Yongqiang Yu, Bin Liu, Xiaohu Li
BMC Cardiovasc Disord. 2023; 23: 397. Published online 2023 Aug 11. doi: 10.1186/s12872-023-03356-y
PMCID:
PMC10422726
ArticlePDF–1.3M
14.
Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review
Balram Gangaram, W. Patrick Devine, Anne Slavotinek
Eur J Med Genet. Author manuscript; available in PMC 2023 Jul 26.
Published in final edited form as: Eur J Med Genet. 2022 Jun; 65(6): 104496. Published online 2022 Apr 6. doi: 10.1016/j.ejmg.2022.104496
PMCID:
PMC10369588
ArticlePDF–1.1M
15.
Phenotypic variability to medication management: an update on fragile X syndrome
Nasser A. Elhawary, Imad A. AlJahdali, Iman S. Abumansour, Zohor A. Azher, Alaa H. Falemban, Wefaq M. Madani, Wafaa Alosaimi, Ghydda Alghamdi, Ikhlas A. Sindi
Hum Genomics. 2023; 17: 60. Published online 2023 Jul 7. doi: 10.1186/s40246-023-00507-2
PMCID:
PMC10329374
ArticlePDF–1.4M
16.
Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy
Xiuhua L. Bozarth, Jonathan Lopez, He Fang, Jacqueline Lee-Eng, Zhijun Duan, Xinxian Deng
Genes (Basel) 2023 Apr; 14(4): 852. Published online 2023 Mar 31. doi: 10.3390/genes14040852
PMCID:
PMC10138066
ArticlePDF–1.8M
17.
Current and Future Therapeutical Options in Alport Syndrome
Jana Reiterová, Vladimír Tesař
Int J Mol Sci. 2023 Mar; 24(6): 5522. Published online 2023 Mar 14. doi: 10.3390/ijms24065522
PMCID:
PMC10056269
ArticlePDF–617K
18.
Bain type of X-linked Syndromic Mental Retardation in a Male with a Pathogenic Variant in HNRNPH2
Puneeth H Somashekar, Dhanya Lakshmi Narayanan, Sujatha Jagadeesh, Beena Suresh, Reddy D Vaishnavi, Stephanie Bielas, Katta M Girisha, Anju Shukla
Am J Med Genet A. Author manuscript; available in PMC 2023 Mar 29.
Published in final edited form as: Am J Med Genet A. 2020 Jan; 182(1): 183–188. Published online 2019 Oct 31. doi: 10.1002/ajmg.a.61388
PMCID:
PMC10052778
ArticlePDF–228K
19.
Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review
Jianlong Zhuang, Qi Luo, Meihua Xie, Yu’e Chen, Yuying Jiang, Shuhong Zeng, Yuanbai Wang, Yingjun Xie, Chunnuan Chen
Mol Genet Genomic Med. 2023 Mar; 11(3): e2121. Published online 2022 Dec 11. doi: 10.1002/mgg3.2121
PMCID:
PMC10009909
ArticlePDF–1.0M
20.
Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome
Sorina Mihaela Papuc, Alina Erbescu, Adelina Glangher, Ioana Streata, Anca-Lelia Riza, Magdalena Budisteanu, Aurora Arghir
Genes (Basel) 2023 Feb; 14(2): 327. Published online 2023 Jan 27. doi: 10.3390/genes14020327
PMCID:
PMC9957277
ArticlePDF–567K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center