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Items: 1 to 20 of 283

1.
A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism
Antonietta Lombardo, Lorenzo Sinibaldi, Silvia Genovese, Giorgia Catino, Valerio Mei, Daniele Pompili, Ester Sallicandro, Roberto Falasca, Maria Teresa Liambo, Maria Vittoria Faggiano, Maria Cristina Roberti, Maddalena Di Donato, Anna Vitelli, Serena Russo, Rosalinda Giannini, Alessia Micalizzi, Nicola Pietrafusa, Maria Cristina Digilio, Antonio Novelli, Lucia Fusco, Viola Alesi
Int J Mol Sci. 2024 Jul; 25(13): 6912. Published online 2024 Jun 24. doi: 10.3390/ijms25136912
PMCID:
PMC11241409
AbstractArticlePDF–3.8M
2.
Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry
Alberto Lopez-de la Rosa, Juan J. Telleria, Manuel Posada de la Paz, Isabel M. Hermosilla-Gimeno, Miren Agurtzane Rivas, Raúl Gilabert, Rosa M. Coco-Martín
Orphanet J Rare Dis. 2024; 19: 234. Published online 2024 Jun 13. doi: 10.1186/s13023-024-03242-6
PMCID:
PMC11170770
AbstractArticlePDF–1.8M
3.
FOXJ1 Variants Causing Primary Ciliary Dyskinesia with Hydrocephalus: A Case Report from Japan
Masashi Ito, Kozo Morimoto, Takashi Ohfuji, Akiko Miyabayashi, Keiko Wakabayashi, Hiroyuki Yamada, Minako Hijikata, Naoto Keicho
Intern Med. 2024 May 15; 63(10): 1433–1437. Published online 2023 Oct 6. doi: 10.2169/internalmedicine.2565-23
PMCID:
PMC11157330
AbstractArticlePDF–1.3M
4.
X-linked Alport syndrome presenting in mother and son with the same unique histopathological features
Nicolas A. D. Bergeron, Alexandre P. Garneau, Mathieu Rousseau-Gagnon, Julie Riopel, Paul Isenring
J Nephrol. 2024; 37(3): 769–772. Published online 2024 Apr 26. doi: 10.1007/s40620-024-01942-7
PMCID:
PMC11150303
AbstractArticlePDF–934K
5.
Human Genome and Diseases:¶Dyskeratosis congenita
A. Marrone, P. J. Mason
Cell Mol Life Sci. 2003 Mar; 60(3): 507–517. doi: 10.1007/s000180300042
PMCID:
PMC11138805
AbstractArticlePDF–351K
6.
Metformin Induces MeCP2 in the Hippocampus of Male Mice with Sex-Specific and Brain-Region-Dependent Molecular Impact
Khatereh Saei Arezoumand, Chris-Tiann Roberts, Mojgan Rastegar
Biomolecules. 2024 Apr; 14(4): 505. Published online 2024 Apr 21. doi: 10.3390/biom14040505
PMCID:
PMC11048179
AbstractArticlePDF–3.7M
7.
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
AbstractArticlePDF–1.8M
8.
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
AbstractArticlePDF–751K
9.
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
AbstractArticlePDF–1.0M
10.
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
AbstractArticlePDF–1.7M
11.
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
AbstractArticlePDF–1.2M
12.
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
AbstractArticlePDF–590K
13.
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
AbstractArticlePDF–4.6M
14.
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
AbstractArticlePDF–435K
15.
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
AbstractArticlePDF–207K
16.
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
AbstractArticlePDF–848K
17.
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
AbstractArticlePDF–3.0M
18.
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
AbstractArticlePDF–2.4M
19.
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
AbstractArticlePDF–1.3M
20.
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
AbstractArticlePDF–1.1M

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