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Select item 88598651.

Identification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher–Neuhäuser Syndrome

Junyu He, Xin Liu, Liyi Liu, Shaohao Zeng, Shuanghong Shan, Zhihong Liao

Front Genet. 2022; 13: 810537. Published online 2022 Feb 7. doi: 10.3389/fgene.2022.810537

PMCID:: PMC8859865

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Select item 63302412.

Chorioretinal Changes in a Genetically Confirmed Case of Boucher-Neuhäuser Syndrome

Brittany B. DeNaro, Elona Dhrami-Gavazi, David M. Rubaltelli, K. Bailey Freund, Winston Lee, Lawrence A. Yannuzzi, Stephen H. Tsang, Joann J. Kang

Retin Cases Brief Rep. Author manuscript; available in PMC 2022 Mar 1.

Published in final edited form as: Retin Cases Brief Rep. 2021 Mar 1; 15(2): 179–184. doi: 10.1097/ICB.0000000000000769

PMCID:: PMC6330241

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Select item 60596783.

A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher-Neuhäuser syndrome

Ruizhi Zheng, Yaguang Zhao, Jiayu Wu, Yuanmei Wang, Jian-Ling Liu, Zhi-Ling Zhou, Xiao-Tao Zhou, Dan-Na Chen, Wei-Hua Liao, Jia-Da Li

Mol Med Rep. 2018 Jul; 18(1): 261–267. Published online 2018 May 3. doi: 10.3892/mmr.2018.8955

PMCID:: PMC6059678

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Select item 42453594.

Compound heterozygous PNPLA6 mutations cause Boucher–Neuhäuser syndrome with late-onset ataxia

A. Deik, B. Johannes, J. C. Rucker, E. Sánchez, S. E. Brodie, E. Deegan, K. Landy, Y. Kajiwara, S. Scelsa, R. Saunders-Pullman, C. Paisán-Ruiz

J Neurol. Author manuscript; available in PMC 2015 Dec 1.

Published in final edited form as: J Neurol. 2014 Dec; 261(12): 2411–2423. Published online 2014 Sep 30. doi: 10.1007/s00415-014-7516-3

PMCID:: PMC4245359

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Select item 26299175.

Ophthalmologic Findings of Boucher-Neuhäuser Syndrome

Sun Im Yu, Jung Lim Kim, Sul Gee Lee, Hyun Woong Kim, Sang Jin Kim

Korean J Ophthalmol. 2008 Dec; 22(4): 263–267. Published online 2008 Dec 26. doi: 10.3341/kjo.2008.22.4.263

PMCID:: PMC2629917

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Select item 10510656.

Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome.

R Rump, B C Hamel, A J Pinckers, P A van Dop

J Med Genet. 1997 Sep; 34(9): 767–771. doi: 10.1136/jmg.34.9.767

PMCID:: PMC1051065

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Select item 78553297.

Novel variants in PNPLA6 causing syndromic retinal dystrophy

Shijing Wu, Zixi Sun, Tian Zhu, Richard G. Weleber, Paul Yang, Xing Wei, Mark E. Pennesi, Ruifang Sui

Exp Eye Res. Author manuscript; available in PMC 2022 Jan 1.

Published in final edited form as: Exp Eye Res. 2021 Jan; 202: 108327. Published online 2020 Oct 22. doi: 10.1016/j.exer.2020.108327

PMCID:: PMC7855329

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Select item 59700278.

Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias

Hélio Afonso Ghizoni Teive, Carlos Henrique F. Camargo, Mario Teruo Sato, Naoye Shiokawa, Cesar L. Boguszewski, Salmo Raskin, Cassandra Buck, Stephanie B. Seminara, Renato Puppi Munhoz

Cerebellum. Author manuscript; available in PMC 2018 Jun 1.

Published in final edited form as: Cerebellum. 2018 Jun; 17(3): 380–385. doi: 10.1007/s12311-017-0909-y

PMCID:: PMC5970027

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Select item 51896739.

Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies

Mary R. Richards, Lacey Plummer, Yee-Ming Chan, Margaret F. Lippincott, Richard Quinton, Philip Kumanov, Stephanie B. Seminara

J Med Genet. Author manuscript; available in PMC 2018 Jan 1.

Published in final edited form as: J Med Genet. 2017 Jan; 54(1): 19–25. Published online 2016 Aug 10. doi: 10.1136/jmedgenet-2016-104064

PMCID:: PMC5189673

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Select item 389145010.

PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

Matthis Synofzik, Michael A. Gonzalez, Charles Marques Lourenco, Marie Coutelier, Tobias B. Haack, Adriana Rebelo, Didier Hannequin, Tim M. Strom, Holger Prokisch, Christoph Kernstock, Alexandra Durr, Ludger Schöls, Marcos M. Lima-Martínez, Amjad Farooq, Rebecca Schüle, Giovanni Stevanin, Wilson Marques, Jr., Stephan Züchner

Brain. 2014 Jan; 137(1): 69–77. Published online 2013 Dec 18. doi: 10.1093/brain/awt326

PMCID:: PMC3891450

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Select item 977441211.

Nano Modifications of Biochar to Enhance Heavy Metal Adsorption from Wastewaters: A Review

Radha Ahuja, Anu Kalia, Rajeev Sikka, Chaitra P

ACS Omega. 2022 Dec 20; 7(50): 45825–45836. Published online 2022 Dec 9. doi: 10.1021/acsomega.2c05117

PMCID:: PMC9774412

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Select item 893641412.

Using the health belief model to assess racial/ethnic disparities in cancer-related behaviors in an NCI-designated comprehensive cancer center catchment area

Amy K. Otto, Dana Ketcher, Rachael McCormick, Jenna L. Davis, McKenzie R. McIntyre, Yunqi Liao, Maija Reblin, Susan T. Vadaparampil

Cancer Causes Control. Author manuscript; available in PMC 2022 Oct 1.

Published in final edited form as: Cancer Causes Control. 2021 Oct; 32(10): 1085–1094. Published online 2021 Jun 16. doi: 10.1007/s10552-021-01457-7

PMCID:: PMC8936414

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Select item 877081513.

Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature

Lorenzo Nanetti, Daniela Di Bella, Stefania Magri, Mario Fichera, Elisa Sarto, Anna Castaldo, Alessia Mongelli, Silvia Baratta, Silvia Fenu, Marco Moscatelli, Maria Teresa Bonati, Andrea Martinuzzi, Caterina Mariotti, Franco Taroni

Front Neurol. 2021; 12: 793547. Published online 2022 Jan 6. doi: 10.3389/fneur.2021.793547

PMCID:: PMC8770815

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Select item 861849014.

How Income Inequality and Race/Ethnicity Drive Obesity in U.S. Adults: 1999–2016

Hossein Zare, Danielle R. Gilmore, Ciana Creighton, Mojgan Azadi, Darrell J. Gaskin, Roland J. Thorpe, Jr.

Healthcare (Basel) 2021 Nov; 9(11): 1442. Published online 2021 Oct 26. doi: 10.3390/healthcare9111442

PMCID:: PMC8618490

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Select item 629603215.

Factors associated with under-five mortality in Bhutan: an analysis of the Bhutan National Health Survey 2012

Tashi Dendup, Yun Zhao, Deki Dema

BMC Public Health. 2018; 18: 1375. Published online 2018 Dec 17. doi: 10.1186/s12889-018-6308-6

PMCID:: PMC6296032

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Select item 323444716.

Literature based species occurrence data of birds of northeast India

Sujit Narwade, Mohit Kalra, Rajkumar Jagdish, Divya Varier, Sagar Satpute, Noor Khan, Gautam Talukdar, V. B. Mathur, Karthikeyan Vasudevan, Dinesh Singh Pundir, Vishwas Chavan, Rajesh Sood

Zookeys. 2011; (150): 407–417. Published online 2011 Nov 28. doi: 10.3897/zookeys.150.2002

PMCID:: PMC3234447

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Select item 119354517.

Blood-nourishing and Hard-softening Capsule Costs Less in the Management of Osteoarthritic Knee Pain: A Randomized Controlled Trial

Yuelong Cao, Yinyu Shi, Yuxing Zheng, Meiyu Shi, Sing Kai Lo

Evid Based Complement Alternat Med. 2005 Sep; 2(3): 363–368. Published online 2005 Jul 26. doi: 10.1093/ecam/neh104

PMCID:: PMC1193545

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Select item 115011518.

Preparation, characterization and biological properties of biotinylated derivatives of calmodulin.

J W Polli, M L Billingsley

Biochem J. 1991 May 1; 275(Pt 3): 733–743. doi: 10.1042/bj2750733

PMCID:: PMC1150115

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Select item 1068673519.

Subcutaneous Panniculitis-like T-cell Lymphoma Lacking Subcutaneous Tumor Mimicking Adult-onset Still's Disease

Maria Tada, Shion Kachi, Masahiro Onozawa, Yuichiro Fujieda, Shota Yoshida, Yotaro Oki, Kazuro Kamada, Jun Nagai, Satomi Okada, Ryo Kikuchi, Ryo Hisada, Yuta Hasegawa, Hiroyuki Ohigashi, Hideki Goto, Daigo Hashimoto, Shinichi Nakazato, Yoshihiro Matsuno, Takanori Teshima, Tatsuya Atsumi

Intern Med. 2023 Nov 1; 62(21): 3231–3235. Published online 2023 Mar 15. doi: 10.2169/internalmedicine.1419-22