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Items: 1 to 20 of 39

1.
AIF translocation into nucleus caused by Aifm1 R450Q mutation: generation and characterization of a mouse model for AUNX1
Tao Shi, Ziyi Chen, Jin Li, Hongyang Wang, Qiuju Wang
Hum Mol Genet. 2024 May 15; 33(10): 905–918. Published online 2024 Mar 6. doi: 10.1093/hmg/ddae010
PMCID:
PMC11070138
ArticlePDF–3.6M
2.
Disease Manifestations and Complications in Dutch X-Linked Hypophosphatemia Patients
A. Bosman, N. M. Appelman-Dijkstra, A. M. Boot, M. H. de Borst, A. C. van de Ven, R. T. de Jongh, A. Bökenkamp, J. P. van den Bergh, B. C. J. van der Eerden, M. C. Zillikens
Calcif Tissue Int. 2024; 114(3): 255–266. Published online 2024 Jan 16. doi: 10.1007/s00223-023-01172-2
PMCID:
PMC10901935
ArticlePDF–698K
3.
Screening copy number variations in 35 unsolved inherited retinal disease families
Xiaozhen Liu, Hehua Dai, Genlin Li, Ruixuan Jia, Xiang Meng, Shicheng Yu, Liping Yang, Jing Hong
Hum Genet. 2024; 143(2): 197–210. Published online 2024 Jan 29. doi: 10.1007/s00439-023-02631-4
PMCID:
PMC10881639
ArticlePDF–9.3M
4.
Impact of X-Linked Hypophosphatemia on Muscle Symptoms
Cecilia Romagnoli, Teresa Iantomasi, Maria Luisa Brandi
Genes (Basel) 2022 Dec; 13(12): 2415. Published online 2022 Dec 19. doi: 10.3390/genes13122415
PMCID:
PMC9778127
ArticlePDF–917K
5.
A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome
David Marx, Arnaud Dupuis, Anita Eckly, Anne Molitor, Jérôme Olagne, Guy Touchard, Sihem Kaaki, Cécile Ory, Anne-Laure Faller, Bénédicte Gérard, Melanie Cotter, Lisa Westerberg, Marton Keszei, Bruno Moulin, Christian Gachet, Sophie Caillard, Seiamak Bahram, Raphaël Carapito
Blood Adv. 2022 Sep 27; 6(18): 5279–5284. Published online 2022 Sep 19. doi: 10.1182/bloodadvances.2021006789
PMCID:
PMC9631694
ArticlePDF–1.3M
6.
Genetic findings of Sanger and nanopore single-molecule sequencing in patients with X-linked hearing loss and incomplete partition type III
Ying Chen, Jiajun Qiu, Yingwei Wu, Huan Jia, Yi Jiang, Mengda Jiang, Zhili Wang, Hai-Bin Sheng, Lingxiang Hu, Zhihua Zhang, Zhaoyan Wang, Yun Li, Zhiwu Huang, Hao Wu
Orphanet J Rare Dis. 2022; 17: 65. Published online 2022 Feb 21. doi: 10.1186/s13023-022-02235-7
PMCID:
PMC8862311
ArticlePDF–1.3M
7.
Maternal mosaicism for a missense variant in the SMS gene that causes Snyder–Robinson syndrome
Mohammad Marhabaie, Scott E. Hickey, Katherine Miller, Olivia Grischow, Kathleen M. Schieffer, Samuel J. Franklin, David M. Gordon, Samantha Choi, Theresa Mihalic Mosher, Peter White, Daniel C. Koboldt, Richard K. Wilson
Cold Spring Harb Mol Case Stud. 2021 Dec; 7(6): a006122. doi: 10.1101/mcs.a006122
PMCID:
PMC8751409
ArticlePDF–1.6M
8.
X-linked Malformation Deafness: Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4
Henrik Smeds, Jeremy Wales, Eva Karltorp, Britt-Marie Anderlid, Cecilia Henricson, Filip Asp, Lena Anmyr, Kristina Lagerstedt-Robinson, Ulrika Löfkvist
Ear Hear. 2022 Jan-Feb; 43(1): 53–69. Published online 2021 Jun 15. doi: 10.1097/AUD.0000000000001073
PMCID:
PMC8694264
ArticlePDF–851K
9.
Study of complex structural variations of X-linked deafness-2 based on single-molecule sequencing
Yi Jiang, Lihua Wu, Shasha Huang, Pidong Li, Bo Gao, Yongyi Yuan, Siwen Zhang, Guoliang Yu, Yong Gao, Hao Wu, Pu Dai
Biosci Rep. 2021 Jun 25; 41(6): BSR20203740. Published online 2021 Jun 10. doi: 10.1042/BSR20203740
PMCID:
PMC8193640
ArticlePDF–1.1M
10.
X-Linked Stapes Gusher: CT Findings in One Patient
Gaurav Kumar, Mauricio Castillo, Craig A. Buchman
AJNR Am J Neuroradiol. 2003 Jun; 24(6): 1130–1132.
PMCID:
PMC8149040
ArticlePDF–154K
11.
Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study
Vera Uliana, Paola Sebastio, Matteo Riva, Diana Carli, Claudio Ruberto, Laura Bianchi, Claudio Graziano, Irene Capelli, Flavio Faletra, Roberto Pillon, Teresa Mattina, Alberto Sensi, Francesco Bonatti, Antonio Percesepe
Mol Genet Genomic Med. 2021 Feb; 9(2): e1576. Published online 2020 Dec 24. doi: 10.1002/mgg3.1576
PMCID:
PMC8077073
ArticlePDF–432K
12.
Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center
Ja Hye Kim, Yena Lee, Yunha Choi, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi
BMC Pediatr. 2021; 21: 108. Published online 2021 Mar 4. doi: 10.1186/s12887-021-02575-6
PMCID:
PMC7931559
ArticlePDF–698K
13.
Long term outcome among females with Alport syndrome from a single pediatric center
Selasie Goka, Lawrence Copelovitch, Daniella Levy Erez
Pediatr Nephrol. Author manuscript; available in PMC 2022 Apr 1.
Published in final edited form as: Pediatr Nephrol. 2021 Apr; 36(4): 945–951. Published online 2020 Oct 13. doi: 10.1007/s00467-020-04748-4
PMCID:
PMC7914153
ArticlePDF–323K
14.
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome
Leonardo Colombo, Paolo E. Maltese, Marco Castori, Said El Shamieh, Christina Zeitz, Isabelle Audo, Alessandra Zulian, Carla Marinelli, Sabrina Benedetti, Alisia Costantini, Simone Bressan, Marcella Percio, Paolo Ferri, Andi Abeshi, Matteo Bertelli, Luca Rossetti
Invest Ophthalmol Vis Sci. 2021 Feb; 62(2): 13. Published online 2021 Feb 12. doi: 10.1167/iovs.62.2.13
PMCID:
PMC7884295
ArticlePDF–1.2M
15.
High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population
Hongyang Wang, Dan Bing, Jin Li, Linyi Xie, Fen Xiong, Lan Lan, Dayong Wang, Jing Guan, Qiuju Wang
Neural Plast. 2020; 2020: 5625768. Published online 2020 Jul 1. doi: 10.1155/2020/5625768
PMCID:
PMC7350177
ArticlePDF–798K
16.
A family case of X-linked Alport syndrome patients with a novel variant in COL4A5
Yasuyo Kashiwagi, Shinji Suzuki, Kazushi Agata, Yasuyuki Morishima, Natsuko Inagaki, Hironao Numabe, Hisashi Kawashima
CEN Case Rep. 2019 May; 8(2): 75–78. Published online 2018 Oct 6. doi: 10.1007/s13730-018-0368-4
PMCID:
PMC6450996
ArticlePDF–1.1M
17.
Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases
Constantia Aristidou, Athina Theodosiou, Mads Bak, Mana M. Mehrjouy, Efthymia Constantinou, Angelos Alexandrou, Ioannis Papaevripidou, Violetta Christophidou-Anastasiadou, Nicos Skordis, Sophia Kitsiou-Tzeli, Niels Tommerup, Carolina Sismani
PLoS One. 2018; 13(10): e0205298. Published online 2018 Oct 5. doi: 10.1371/journal.pone.0205298
PMCID:
PMC6173455
ArticlePDF–1.5M
18.
Whole genome sequencing and 6-year follow-up of a mother and daughter with frontometaphyseal dysplasia associated with keratitis, xerosis, poikiloderma, and acro-osteolysis: A case report
Heng Xie, Li Xue, Wei Hua, Bangsheng Jia, Liang Zhang, Li Li
Medicine (Baltimore) 2018 Jul; 97(28): e11283. Published online 2018 Jul 13. doi: 10.1097/MD.0000000000011283
PMCID:
PMC6076188
ArticlePDF–880K
19.
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients
Rubén Cabanillas, Marta Diñeiro, Guadalupe A. Cifuentes, David Castillo, Patricia C. Pruneda, Rebeca Álvarez, Noelia Sánchez-Durán, Raquel Capín, Ana Plasencia, Mónica Viejo-Díaz, Noelia García-González, Inés Hernando, José L. Llorente, Alfredo Repáraz-Andrade, Cristina Torreira-Banzas, Jordi Rosell, Nancy Govea, Justo Ramón Gómez-Martínez, Faustino Núñez-Batalla, José A. Garrote, Ángel Mazón-Gutiérrez, María Costales, María Isidoro-García, Belén García-Berrocal, Gonzalo R. Ordóñez, Juan Cadiñanos
BMC Med Genomics. 2018; 11: 58. Published online 2018 Jul 9. doi: 10.1186/s12920-018-0375-5
PMCID:
PMC6038346
ArticlePDF–964K
20.
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1
Noriko Miyake, Nicole I. Wolf, Ferdy K. Cayami, Joanna Crawford, Annette Bley, Dorothy Bulas, Alex Conant, Stephen J. Bent, Karen W. Gripp, Andreas Hahn, Sean Humphray, Shihoko Kimura-Ohba, Zoya Kingsbury, Bryan R. Lajoie, Dennis Lal, Dimitra Micha, Amy Pizzino, Richard J. Sinke, Deborah Sival, Irene Stolte-Dijkstra, Andrea Superti-Furga, Nicole Ulrick, Ryan J. Taft, Tsutomu Ogata, Keiichi Ozono, Naomichi Matsumoto, Bernd A. Neubauer, Cas Simons, Adeline Vanderver
Neurogenetics. 2017; 18(4): 185–194. Published online 2017 Aug 26. doi: 10.1007/s10048-017-0520-x
PMCID:
PMC5705759
ArticlePDF–4.2M

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