PMC Articles for MedGen (Select 479834) - PMC

Select item 55369531.

22q11.2q13 Duplication Including SOX10 causes Sex-reversal and Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome and Hirschsprung Disease

Nadia Falah, Jennifer E. Posey, Willa Thorson, Paul Benke, Mustafa Tekin, Brocha Tarshish, James R Lupski, Tamar Harel

Am J Med Genet A. Author manuscript; available in PMC 2018 Apr 1.

Published in final edited form as: Am J Med Genet A. 2017 Apr; 173(4): 1066–1070. doi: 10.1002/ajmg.a.38109

PMCID:: PMC5536953

Article PDF–392K

Select item 82289112.

A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy

Nozomu Matsuda, Koushi Ootsuki, Shunsuke Kobayashi, Ayaka Nemoto, Hitoshi Kubo, Shin-ichi Usami, Kazuaki Kanani

BMC Neurol. 2021; 21: 243. Published online 2021 Jun 25. doi: 10.1186/s12883-021-02256-y

PMCID:: PMC8228911

Article PDF–1.6M

Select item 78695013.

Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report

Safoura Zardadi, Sima Rayat, Maryam Hassani Doabsari, Aliagha Alishiri, Mohammad Keramatipour, Zeynab Javanfekr Shahri, Saeid Morovvati

BMC Pediatr. 2021; 21: 70. Published online 2021 Feb 8. doi: 10.1186/s12887-021-02521-6

PMCID:: PMC7869501

Article PDF–1.3M

Select item 61698304.

Combination of exome sequencing and immune testing confirms Aicardi–Goutières syndrome type 5 in a challenging pediatric neurology case

Gloria T. Haskell, Mari Mori, Cynthia Powell, Timothy J. Amrhein, Gillian I. Rice, Lauren Bailey, Natasha Strande, Karen E. Weck, James P. Evans, Jonathan S. Berg, Priya Kishnani

Cold Spring Harb Mol Case Stud. 2018 Oct; 4(5): a002758. doi: 10.1101/mcs.a002758

PMCID:: PMC6169830

Article PDF–2.8M

Select item 43054685.

Disrupted SOX10 function causes spongiform neurodegeneration in gray tremor mice

Sarah R. Anderson, Inyoul Lee, Christine Ebeling, Dennis A. Stephenson, Kelsey M. Schweitzer, David Baxter, Tara M. Moon, Sarah LaPierre, Benjamin Jaques, Derek Silvius, Michael Wegner, Leroy E. Hood, George Carlson, Teresa M. Gunn

Mamm Genome. Author manuscript; available in PMC 2016 Feb 1.

Published in final edited form as: Mamm Genome. 2015 Feb; 26(0): 80–93. Published online 2014 Nov 16. doi: 10.1007/s00335-014-9548-5

PMCID:: PMC4305468

Article PDF–1.7M

Select item 33819856.

High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease

Birdal Bilir, Zuhal Yapici, Cengiz Yalcinkaya, Ibrahim Baris, Claudia M. B. Carvalho, Magdalena Bartnik, Burcak Ozes, Mefkure Eraksoy, James R. Lupski, Esra Battaloglu

Clin Genet. Author manuscript; available in PMC 2014 Jan 1.

Published in final edited form as: Clin Genet. 2013 Jan; 83(1): 66–72. Published online 2012 Feb 20. doi: 10.1111/j.1399-0004.2012.01846.x

PMCID:: PMC3381985

Article PDF–589K

Select item 25264277.

Identification of Proteolipid Protein 1 Gene Duplication by Multiplex Ligation-Dependent Probe Amplification: First Report of Genetically Confirmed Family of Pelizaeus-Merzbacher Disease in Korea

Sei Joo Kim, Joon Shik Yoon, Hye Jin Baek, Sang Il Suh, Sook Young Bae, Hyun-Jung Cho, Chang-Seok Ki

J Korean Med Sci. 2008 Apr; 23(2): 328–331. Published online 2008 Apr 20. doi: 10.3346/jkms.2008.23.2.328

PMCID:: PMC2526427

Article PDF–264K

Select item 22763408.

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

Nadege Bondurand, Florence Dastot-Le Moal, Laure Stanchina, Nathalie Collot, Viviane Baral, Sandrine Marlin, Tania Attie-Bitach, Irina Giurgea, Laurent Skopinski, William Reardon, Annick Toutain, Pierre Sarda, Anis Echaieb, Marilyn Lackmy-Port-Lis, Renaud Touraine, Jeanne Amiel, Michel Goossens, Veronique Pingault

Am J Hum Genet. 2007 Dec; 81(6): 1169–1185. Published online 2007 Oct 22. doi: 10.1086/522090

PMCID:: PMC2276340

Article PDF–666K

Select item 77560689.

Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis

Supranee Thongpradit, Natini Jinawath, Asif Javed, Laran T. Jensen, Issarapa Chunsuwan, Kitiwan Rojnueangnit, Thipwimol Tim-Aroon, Krisna Lertsukprasert, Meng-Shin Shiao, Nongnuch Sirachainan, Duangrurdee Wattanasirichaigoon

Front Genet. 2020; 11: 589784. Published online 2020 Dec 9. doi: 10.3389/fgene.2020.589784

PMCID:: PMC7756068

Article PDF–6.6M

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