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Items: 1 to 20 of 24

1.
PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis
Rajech Sharkia, Sahil Jain, Muhammad Mahajnah, Clair Habib, Abdussalam Azem, Wasif Al-Shareef, Abdelnaser Zalan
Genes (Basel) 2023 May; 14(5): 1031. Published online 2023 Apr 30. doi: 10.3390/genes14051031
PMCID:
PMC10217894
AbstractArticlePDF–865K
2.
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease
Richard G Lee, Shanti Balasubramaniam, Maike Stentenbach, Tom Kralj, Tim McCubbin, Benjamin Padman, Janine Smith, Lisa G Riley, Archana Priyadarshi, Liuyu Peng, Madison R Nuske, Richard Webster, Ken Peacock, Philip Roberts, Zornitza Stark, Gabrielle Lemire, Yoko A Ito, Care4Rare Canada Consortium, Kym M Boycott, Michael T Geraghty, Jan Bert van Klinken, Sacha Ferdinandusse, Ying Zhou, Rebecca Walsh, Esteban Marcellin, David R Thorburn, Tony Rosciolli, Janice Fletcher, Oliver Rackham, Frédéric M Vaz, Gavin E Reid, Aleksandra Filipovska
Hum Mol Genet. 2022 Nov 1; 31(21): 3597–3612. Published online 2022 Feb 11. doi: 10.1093/hmg/ddac040
Correction in:
Hum Mol Genet. 2023 Apr 1; 32(7): 1236.
PMCID:
PMC9616573
AbstractArticlePDF–2.4M
3.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
Rauan Kaiyrzhanov, Sami E.M. Mohammed, Reza Maroofian, Ralf A. Husain, Alessia Catania, Alessandra Torraco, Ahmad Alahmad, Marina Dutra-Clarke, Sabine Grønborg, Annapurna Sudarsanam, Julie Vogt, Filippo Arrigoni, Julia Baptista, Shahzad Haider, René G. Feichtinger, Paolo Bernardi, Alessandra Zulian, Mirjana Gusic, Stephanie Efthymiou, Renkui Bai, Farah Bibi, Alejandro Horga, Julian A. Martinez-Agosto, Amanda Lam, Andreea Manole, Diego-Perez Rodriguez, Romina Durigon, Angela Pyle, Buthaina Albash, Carlo Dionisi-Vici, David Murphy, Diego Martinelli, Enrico Bugiardini, Katrina Allis, Costanza Lamperti, Siegfried Reipert, Lotte Risom, Lucia Laugwitz, Michela Di Nottia, Robert McFarland, Laura Vilarinho, Michael Hanna, Holger Prokisch, Johannes A. Mayr, Enrico Silvio Bertini, Daniele Ghezzi, Elsebet Østergaard, Saskia B. Wortmann, Rosalba Carrozzo, Tobias B. Haack, Robert W. Taylor, Antonella Spinazzola, Karin Nowikovsky, Henry Houlden
Am J Hum Genet. 2022 Sep 1; 109(9): 1692–1712. Published online 2022 Sep 1. doi: 10.1016/j.ajhg.2022.07.007
PMCID:
PMC9502063
AbstractArticlePDF–3.8M
4.
Hearing Loss in Malignant Infantile Osteopetrosis: A Case-Based Review
Elise De Cuyper, Céline De Cuyper, Leen Willems, Jan Casselman, Ingeborg Dhooge, Helen Van Hoecke
J Int Adv Otol. 2021 Nov; 17(6): 551–558. Published online 2021 Nov 1. doi: 10.5152/iao.2021.21266
PMCID:
PMC8975393
AbstractArticlePDF–5.4M
5.
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
Irit Hochberg, Leigh A.M. Demain, Julie Richer, Kyle Thompson, Jill E. Urquhart, Alessandro Rea, Waheeda Pagarkar, Agustí Rodríguez-Palmero, Agatha Schlüter, Edgard Verdura, Aurora Pujol, Pilar Quijada-Fraile, Albert Amberger, Andrea J. Deutschmann, Sandra Demetz, Meredith Gillespie, Inna A. Belyantseva, Hugh J. McMillan, Melanie Barzik, Glenda M. Beaman, Reeya Motha, Kah Ying Ng, James O’Sullivan, Simon G. Williams, Sanjeev S. Bhaskar, Isabella R. Lawrence, Emma M. Jenkinson, Jessica L. Zambonin, Zeev Blumenfeld, Sergey Yalonetsky, Stephanie Oerum, Walter Rossmanith, Genomics England Research Consortium, Wyatt W. Yue, Johannes Zschocke, Kevin J. Munro, Brendan J. Battersby, Thomas B. Friedman, Robert W. Taylor, Raymond T. O’Keefe, William G. Newman
Am J Hum Genet. 2021 Nov 4; 108(11): 2195–2204. Published online 2021 Oct 28. doi: 10.1016/j.ajhg.2021.10.002
PMCID:
PMC8595931
AbstractArticlePDF–1.3M
6.
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation
Jodie Ouahed, Judith R Kelsen, Waldo A Spessott, Kameron Kooshesh, Maria L Sanmillan, Noor Dawany, Kathleen E Sullivan, Kathryn E Hamilton, Voytek Slowik, Sergey Nejentsev, João Farela Neves, Helena Flores, Wendy K Chung, Ashley Wilson, Kwame Anyane-Yeboa, Karen Wou, Preti Jain, Michael Field, Sophia Tollefson, Maiah H Dent, Dalin Li, Takeo Naito, Dermot P B McGovern, Andrew C Kwong, Faith Taliaferro, Jose Ordovas-Montanes, Bruce H Horwitz, Daniel Kotlarz, Christoph Klein, Jonathan Evans, Jill Dorsey, Neil Warner, Abdul Elkadri, Aleixo M Muise, Jeffrey Goldsmith, Benjamin Thompson, Karin R Engelhardt, Andrew J Cant, Sophie Hambleton, Andrew Barclay, Agnes Toth-Petroczy, Dana Vuzman, Nikkola Carmichael, Corneliu Bodea, Christopher A Cassa, Marcella Devoto, Richard L Maas, Edward M Behrens, Claudio G Giraudo, Scott B Snapper
J Crohns Colitis. 2021 Nov; 15(11): 1908–1919. Published online 2021 Apr 23. doi: 10.1093/ecco-jcc/jjab077
PMCID:
PMC8575043
AbstractArticlePDF–8.3M
7.
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review
Mateusz Biela, Malgorzata Rydzanicz, Krystyna Szymanska, Karolina Pieniawska‐Smiech, Aleksandra Lewandowicz‐Uszynska, Joanna Chruszcz, Lucyna Benben, Malgorzata Kuzior‐Plawiak, Pawel Szyld, Aleksandra Jakubiak, Leszek Szenborn, Rafal Ploski, Robert Smigiel
Mol Genet Genomic Med. 2021 Sep; 9(9): e1772. Published online 2021 Aug 2. doi: 10.1002/mgg3.1772
PMCID:
PMC8457706
AbstractArticlePDF–775K
8.
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness
Francesca Nardecchia, Agnese De Giorgi, Flavia Palombo, Claudio Fiorini, Anna M. De Negri, Valerio Carelli, Leonardo Caporali, Vincenzo Leuzzi
Ann Clin Transl Neurol. 2021 Jan; 8(1): 247–251. Published online 2020 Dec 7. doi: 10.1002/acn3.51232
PMCID:
PMC7818083
AbstractArticlePDF–679K
9.
A novel mutation in the ubiquinol-cytochrome c reductase synthesis-like gene associated with complex III deficiency and Björnstad syndrome: A case report
Xuncan Liu, Yanfeng Zhang, Jianmin Liang, Si Yang, Chen Chen
Medicine (Baltimore) 2020 Oct 30; 99(44): e23026. Published online 2020 Oct 30. doi: 10.1097/MD.0000000000023026
PMCID:
PMC7598881
AbstractArticlePDF–386K
10.
Expansion of the genetic landscape of ERLIN2‐related disorders
Siddharth Srivastava, Angelica D’Amore, Julie S. Cohen, Lindsay C. Swanson, Ivana Ricca, Antonella Pini, Ali Fatemi, Darius Ebrahimi‐Fakhari, Filippo M. Santorelli
Ann Clin Transl Neurol. 2020 Apr; 7(4): 573–578. Published online 2020 Mar 8. doi: 10.1002/acn3.51007
PMCID:
PMC7187699
AbstractArticlePDF–1.2M
11.
Characterization of the renal phenotype in RMND1‐related mitochondrial disease
Brian J. Shayota, Nhon T. Le, Nasim Bekheirnia, Jill A. Rosenfeld, Amy C. Goldstein, Michael Moritz, Dennis W. Bartholomew, Matthew T. Pastore, Fan Xia, Christine Eng, Yaping Yang, Dolores J. Lamb, Fernando Scaglia, Michael C. Braun, Mir Reza Bekheirnia
Mol Genet Genomic Med. 2019 Dec; 7(12): e973. Published online 2019 Sep 30. doi: 10.1002/mgg3.973
PMCID:
PMC6900359
AbstractArticlePDF–586K
12.
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes
Margaret A. Gustafson, Elizabeth M. McCormick, Lalith Perera, Matthew J. Longley, Renkui Bai, Jianping Kong, Matthew Dulik, Lishuang Shen, Amy C. Goldstein, Shana E. McCormack, Benjamin L. Laskin, Bart P. Leroy, Xilma R. Ortiz-Gonzalez, Meredith G. Ellington, William C. Copeland, Marni J. Falk
PLoS One. 2019; 14(9): e0221829. Published online 2019 Sep 3. doi: 10.1371/journal.pone.0221829
PMCID:
PMC6719858
AbstractArticlePDF–2.9M
13.
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders
María Domínguez-Ruiz, Alberto García-Martínez, Marc Corral-Juan, Ángel I. Pérez-Álvarez, Ana M. Plasencia, Manuela Villamar, Miguel A. Moreno-Pelayo, Antoni Matilla-Dueñas, Manuel Menéndez-González, Ignacio del Castillo
J Transl Med. 2019; 17: 290. Published online 2019 Aug 28. doi: 10.1186/s12967-019-2041-x
PMCID:
PMC6712801
AbstractArticlePDF–1.6M
14.
Hearing loss in children with congenital cytomegalovirus infection: an 11-year retrospective study based on laboratory database of a tertiary paediatric hospital
S. PALMA, M.F. ROVERSI, M. BETTINI, S. MAZZONI, P. PIETROSEMOLI, L. LUCACCIONI, A. BERARDI, E. GENOVESE
Acta Otorhinolaryngol Ital. 2019 Feb; 39(1): 40–45. doi: 10.14639/0392-100X-2020
PMCID:
PMC6444162
AbstractArticlePDF–269K
15.
Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review
Martina Finetti, Alessia Omenetti, Silvia Federici, Roberta Caorsi, Marco Gattorno
Orphanet J Rare Dis. 2016; 11: 167. Published online 2016 Dec 7. doi: 10.1186/s13023-016-0542-8
PMCID:
PMC5142346
AbstractArticlePDF–1.7M
16.
Rare case of Alstrom syndrome with empty sella and interfamilial presence of Bardet-Biedl phenotype
D Catrinoiu, C.M. Mihai, L Tuta, R Stoicescu, A Simpetru
J Med Life. 2009 Jan-Mar; 2(1): 98–103.
PMCID:
PMC5051489
AbstractArticlePDF–126K
17.
De Novo CIAS1 Mutations, Cytokine Activation, and Evidence for Genetic Heterogeneity in Patients With Neonatal-Onset Multisystem Inflammatory Disease (NOMID): A New Member of the Expanding Family of Pyrin-Associated Autoinflammatory Diseases
Ivona Aksentijevich, Miroslawa Nowak, Mustapha Mallah, Jae Jin Chae, Wendy T. Watford, Sigrun R. Hofmann, Leonard Stein, Ricardo Russo, Donald Goldsmith, Peter Dent, Helene F. Rosenberg, Frances Austin, Elaine F. Remmers, James E. Balow, Jr., Sergio Rosenzweig, Hirsh Komarow, Nitza G. Shoham, Geryl Wood, Janet Jones, Nadira Mangra, Hector Carrero, Barbara S. Adams, Terry L. Moore, Kenneth Schikler, Hal Hoffman, Daniel J. Lovell, Robert Lipnick, Karyl Barron, John J O’Shea, Daniel L. Kastner, Raphaela Goldbach-Mansky
Arthritis Rheum. Author manuscript; available in PMC 2015 Sep 1.
Published in final edited form as: Arthritis Rheum. 2002 Dec; 46(12): 3340–3348. doi: 10.1002/art.10688
PMCID:
PMC4556432
AbstractArticlePDF–1.0M
18.
The genotypic and phenotypic spectrum of PIGA deficiency
Maja Tarailo-Graovac, Graham Sinclair, Sylvia Stockler-Ipsiroglu, Margot Van Allen, Jacob Rozmus, Casper Shyr, Roberta Biancheri, Tracey Oh, Bryan Sayson, Mirafe Lafek, Colin J Ross, Wendy P Robinson, Wyeth W Wasserman, Andrea Rossi, Clara DM van Karnebeek
Orphanet J Rare Dis. 2015; 10: 23. Published online 2015 Feb 27. doi: 10.1186/s13023-015-0243-8
PMCID:
PMC4348372
AbstractArticlePDF–1.7M
19.
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features
Hiroyuki Morino, Sarah B. Pierce, Yukiko Matsuda, Tom Walsh, Ryosuke Ohsawa, Marta Newby, Keiko Hiraki-Kamon, Masahito Kuramochi, Ming K. Lee, Rachel E. Klevit, Alan Martin, Hirofumi Maruyama, Mary-Claire King, Hideshi Kawakami
Neurology. 2014 Nov 25; 83(22): 2054–2061. doi: 10.1212/WNL.0000000000001036
PMCID:
PMC4248451
AbstractArticlePDF–834K
20.
Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency
Daniel S Lieber, Steven G Hershman, Nancy G Slate, Sarah E Calvo, Katherine B Sims, Jeremy D Schmahmann, Vamsi K Mootha
BMC Med Genet. 2014; 15: 30. Published online 2014 Mar 6. doi: 10.1186/1471-2350-15-30
PMCID:
PMC4015298
AbstractArticlePDF–1.9M

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