PMC Articles for MedGen (Select 1675017) - PMC

Select item 108953821.

Novel hemizygous single‐nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss

Ryan J. German, Blake Vuocolo, Liesbeth Vossaert, Nichole Owen, Richard A. Lewis, Lisa Saba, The Texome Project, Michael F. Wangler, Sandesh Nagamani

Mol Genet Genomic Med. 2024 Feb; 12(2): e2404. Published online 2024 Feb 26. doi: 10.1002/mgg3.2404

PMCID:: PMC10895382

Article PDF–1.7M

Select item 104659662.

USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids

Carla Sanjurjo-Soriano, Carla Jimenez-Medina, Nejla Erkilic, Luisina Cappellino, Arnaud Lefevre, Kerstin Nagel-Wolfrum, Uwe Wolfrum, Erwin Van Wijk, Anne-Françoise Roux, Isabelle Meunier, Vasiliki Kalatzis

HGG Adv. 2023 Oct 12; 4(4): 100229. Published online 2023 Aug 7. doi: 10.1016/j.xhgg.2023.100229

PMCID:: PMC10465966

Article PDF–6.9M

Select item 94079833.

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

Article PDF–788K

Select item 90555534.

Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort

Vasily M. Smirnov, Marco Nassisi, Saddek Mohand-Saïd, Crystel Bonnet, Anne Aubois, Céline Devisme, Thilissa Dib, Christina Zeitz, Natalie Loundon, Sandrine Marlin, Christine Petit, Bahram Bodaghi, José-Alain Sahel, Isabelle Audo

Invest Ophthalmol Vis Sci. 2022 Apr; 63(4): 25. Published online 2022 Apr 28. doi: 10.1167/iovs.63.4.25

PMCID:: PMC9055553

Article PDF–9.1M

Select item 90350005.

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

Article PDF–1.9M

Select item 81076376.

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

Article PDF–3.0M

Select item 74607497.

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

Article PDF–674K

Select item 68989308.

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

Article PDF–8.5M

Select item 55180939.

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

Article PDF–705K

Select item 463085210.

A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report

Elizabeth E. Norgett, Anthony Yii, Katherine G. Blake-Palmer, Mostafa Sharifian, Louise E. Allen, Abdolhamid Najafi, Ariana Kariminejad, Fiona E. Karet Frankl

BMC Med Genet. 2015; 16: 38. Published online 2015 Jun 13. doi: 10.1186/s12881-015-0182-1

PMCID:: PMC4630852

Article PDF–984K

Select item 447548611.

Alström Syndrome: Mutation spectrum of ALMS1

Jan D. Marshall, Jean Muller, Gayle B. Collin, Gabriella Milan, Stephen F. Kingsmore, Darrell Dinwiddie, Emily G. Farrow, Neil A. Miller, Francesca Favaretto, Pietro Maffei, Hélène Dollfus, Roberto Vettor, Jürgen K. Naggert

Hum Mutat. Author manuscript; available in PMC 2016 Jul 1.

Published in final edited form as: Hum Mutat. 2015 Jul; 36(7): 660–668. Published online 2015 May 18. doi: 10.1002/humu.22796

PMCID:: PMC4475486

Article PDF–532K

Select item 377457212.

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

Article PDF–1.2M

Select item 312316413.

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.

Isabelle Audo, Kinga Bujakowska, Saddek Mohand-Saïd, Sophie Tronche, Marie-Elise Lancelot, Aline Antonio, Aurore Germain, Christine Lonjou, Wassila Carpentier, José-Alain Sahel, Shomi Bhattacharya, Christina Zeitz

Mol Vis. 2011; 17: 1598–1606. Published online 2011 Jun 15.

PMCID:: PMC3123164

Article PDF–708K

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