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Items: 15

1.
Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia
Zahra Nouri, Akram Sarmadi, Sina Narrei, Hamidreza Kianersi, Farzan Kianersi, Mohammad Amin Tabatabaiefar
BMC Med Genomics. 2024; 17: 173. Published online 2024 Jul 1. doi: 10.1186/s12920-024-01942-3
PMCID:
PMC11218353
AbstractArticlePDF–2.9M
2.
De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
Xiaoyu Huang, Huiping Li, Shangying Yang, Meijiao Ma, Yuanyuan Lian, Xueli Wu, Xiaolong Qi, Xuhui Wang, Weining Rong, Xunlun Sheng
BMC Med Genomics. 2024; 17: 142. Published online 2024 May 24. doi: 10.1186/s12920-024-01904-9
PMCID:
PMC11127418
AbstractArticlePDF–1.8M
3.
The genetic landscape of inherited retinal dystrophies in Arabs
Lama Jaffal, Hawraa Joumaa, Jinane Noureldine, Malak Banjak, Mariam Ibrahim, Zamzam Mrad, Ali Salami, Said El Shamieh
BMC Med Genomics. 2023; 16: 89. Published online 2023 May 1. doi: 10.1186/s12920-023-01518-7
PMCID:
PMC10150479
AbstractArticlePDF–4.3M
4.
Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review
Joseph Griffith, III, Kareem Sioufi, Laurie Wilbanks, George N. Magrath, Emil A. T. Say, Michael J. Lyons, Meg Wilkes, Gurpur Shashidhar Pai, Mae Millicent Winfrey Peterseim
Genes (Basel) 2022 Aug; 13(8): 1490. Published online 2022 Aug 20. doi: 10.3390/genes13081490
PMCID:
PMC9407983
AbstractArticlePDF–788K
5.
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment
Paulina Bahena, Narsis Daftarian, Reza Maroofian, Paola Linares, Daniel Villalobos, Mehraban Mirrahimi, Aboulfazl Rad, Julia Doll, Michaela A. H. Hofrichter, Asuman Koparir, Tabea Röder, Seungbin Han, Hamideh Sabbaghi, Hamid Ahmadieh, Hassan Behboudi, Cristina Villanueva-Mendoza, Vianney Cortés-Gonzalez, Rocio Zamora-Ortiz, Susanne Kohl, Laura Kuehlewein, Hossein Darvish, Elham Alehabib, Maria de la Luz Arenas-Sordo, Fatemeh Suri, Barbara Vona, Thomas Haaf
Hum Genet. 2022; 141(3-4): 785–803. Published online 2021 Jun 20. doi: 10.1007/s00439-021-02303-1
PMCID:
PMC9035000
AbstractArticlePDF–1.9M
6.
Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series
Jin Kyun Oh, José G. Vargas Del Valle, Jose Ronaldo Lima de Carvalho, Jr, Young Joo Sun, Sarah R. Levi, Joseph Ryu, Jing Yang, Takayuki Nagasaki, Andres Emanuelli, Nailyn Rasool, Rando Allikmets, Janet R. Sparrow, Natalio J. Izquierdo, Jacque L. Duncan, Vinit B. Mahajan, Stephen H. Tsang
Orphanet J Rare Dis. 2022; 17: 146. Published online 2022 Apr 1. doi: 10.1186/s13023-022-02295-9
PMCID:
PMC8973795
AbstractArticlePDF–2.2M
7.
Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature
Oliver Murch, Vani Jain, Andreas Benneche, Kay Metcalfe, Emma Hobson, Katrina Prescott, Kate Chandler, Neeti Ghali, Jenny Carmichael, Nicola C. Foulds, Julie Paulsen, Marie F. Smeland, Siren Berland, Andrew E. Fry
Eur J Hum Genet. 2022 Jan; 30(1): 95–100. Published online 2021 Oct 14. doi: 10.1038/s41431-021-00961-3
PMCID:
PMC8738758
AbstractArticlePDF–671K
8.
Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature
Neringa Jurkute, Priya D. Shanmugarajah, Marios Hadjivassiliou, Jenny Higgs, Miodrag Vojcic, Iain Horrocks, Yann Nadjar, Valerie Touitou, Guy Lenaers, Roy Poh, James Acheson, Anthony G. Robson, F. Lucy Raymond, Mary M. Reilly, Patrick Yu-Wai-Man, Anthony T. Moore, Andrew R. Webster, Gavin Arno, for the Genomics England Research Consortium
Invest Ophthalmol Vis Sci. 2021 May; 62(6): 2. Published online 2021 May 3. doi: 10.1167/iovs.62.6.2
PMCID:
PMC8107637
AbstractArticlePDF–3.0M
9.
A very early diagnosis of Alstrӧm syndrome by next generation sequencing
Leonardo Gatticchi, Jan Miertus, Paolo Enrico Maltese, Simone Bressan, Luca De Antoni, Ludmila Podracká, Lucia Piteková, Vanda Rísová, Mari Mällo, Kaie Jaakson, Kairit Joost, Leonardo Colombo, Matteo Bertelli
BMC Med Genet. 2020; 21: 173. Published online 2020 Sep 1. doi: 10.1186/s12881-020-01110-1
PMCID:
PMC7460749
AbstractArticlePDF–674K
10.
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility
Giulia Ascari, Frank Peelman, Pietro Farinelli, Toon Rosseel, Nina Lambrechts, Kirsten A. Wunderlich, Matias Wagner, Konstantinos Nikopoulos, Pernille Martens, Irina Balikova, Lara Derycke, Gabriële Holtappels, Olga Krysko, Thalia Van Laethem, Sarah De Jaegere, Brecht Guillemyn, Riet De Rycke, Jan De Bleecker, David Creytens, Jo Van Dorpe, Jan Gerris, Claus Bachert, Christiane Neuhofer, Sophie Walraedt, Almut Bischoff, Lotte B. Pedersen, Thomas Klopstock, Carlo Rivolta, Bart P. Leroy, Elfride De Baere, Frauke Coppieters
Hum Mutat. 2020 May; 41(5): 998–1011. Published online 2020 Feb 12. doi: 10.1002/humu.23993
PMCID:
PMC7187288
AbstractArticlePDF–5.6M
11.
A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants
Maria F. Shurygina, Maria A. Parker, Catie L. Schlechter, Rui Chen, Yumei Li, Richard G. Weleber, Paul Yang, Mark E. Pennesi
BMC Ophthalmol. 2019; 19: 246. Published online 2019 Dec 7. doi: 10.1186/s12886-019-1259-y
PMCID:
PMC6898930
AbstractArticlePDF–8.5M
12.
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative
Carla Fuster-García, Gema García-García, Teresa Jaijo, Neus Fornés, Carmen Ayuso, Miguel Fernández-Burriel, Ana Sánchez-De la Morena, Elena Aller, José M. Millán
Sci Rep. 2018; 8: 17113. Published online 2018 Nov 20. doi: 10.1038/s41598-018-35085-0
PMCID:
PMC6244211
AbstractArticlePDF–4.1M
13.
Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome
Lin Yang, Zixiu Li, Mei Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou
BMC Med Genet. 2017; 18: 75. Published online 2017 Jul 19. doi: 10.1186/s12881-017-0418-3
PMCID:
PMC5518093
AbstractArticlePDF–705K
14.
Usher syndrome type 1–associated cadherins shape the photoreceptor outer segment
Cataldo Schietroma, Karine Parain, Amrit Estivalet, Asadollah Aghaie, Jacques Boutet de Monvel, Serge Picaud, José-Alain Sahel, Muriel Perron, Aziz El-Amraoui, Christine Petit
J Cell Biol. 2017 Jun 5; 216(6): 1849–1864. doi: 10.1083/jcb.201612030
PMCID:
PMC5461027
AbstractArticlePDF–3.9M
15.
Novel ALMS1 mutations in Chinese patients with Alström syndrome
Xiaofang Liang, Hui Li, Huajin Li, Fei Xu, Fangtian Dong, Ruifang Sui
Mol Vis. 2013; 19: 1885–1891. Published online 2013 Sep 7.
PMCID:
PMC3774572
AbstractArticlePDF–1.2M

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