PMC Articles for MedGen (Select 1852264) - PMC

Select item 74653291.

Autism-associated variants of neuroligin 4X impair synaptogenic activity by various molecular mechanisms

Takafumi Yumoto, Misaki Kimura, Ryota Nagatomo, Tsukika Sato, Shun Utsunomiya, Natsue Aoki, Motoji Kitaura, Koji Takahashi, Hiroshi Takemoto, Hirotaka Watanabe, Hideyuki Okano, Fumiaki Yoshida, Yosuke Nao, Taisuke Tomita

Mol Autism. 2020; 11: 68. Published online 2020 Sep 1. doi: 10.1186/s13229-020-00373-y

PMCID:: PMC7465329

Abstract Article PDF–3.4M

Select item 70341282.

Late diagnosis of Lesch–Nyhan disease complicated with end-stage renal disease and tophi burst: a case report

Cahyani Gita Ambarsari, Daffodilone Cahyadi, Lenny Sari, Oryza Satria, Felly Sahli, Thyrza Laudamy Darmadi, Agustina Kadaristiana

Ren Fail. 2020; 42(1): 113–121. Published online 2020 Jan 27. doi: 10.1080/0886022X.2020.1713805

PMCID:: PMC7034128

Abstract Article PDF–2.3M

Select item 68374513.

Oxidative stress in Rett syndrome: Natural history, genotype, and variants

Silvia Leoncini, Claudio De Felice, Cinzia Signorini, Alessandra Pecorelli, Thierry Durand, Giuseppe Valacchi, Lucia Ciccoli, Joussef Hayek

Redox Rep. 2011; 16(4): 145–153. Published online 2013 Jul 19. doi: 10.1179/1351000211Y.0000000004

PMCID:: PMC6837451

Abstract Article PDF–353K

Select item 58565124.

Grip and slip of L1-CAM on adhesive substrates direct growth cone haptotaxis

Kouki Abe, Hiroko Katsuno, Michinori Toriyama, Kentarou Baba, Tomoyuki Mori, Toshio Hakoshima, Yonehiro Kanemura, Rikiya Watanabe, Naoyuki Inagaki

Proc Natl Acad Sci U S A. 2018 Mar 13; 115(11): 2764–2769. Published online 2018 Feb 26. doi: 10.1073/pnas.1711667115

PMCID:: PMC5856512

Abstract Article PDF–1.5M

Select item 48331925.

Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Detelina Grozeva, Keren Carss, Olivera Spasic‐Boskovic, Maria‐Isabel Tejada, Jozef Gecz, Marie Shaw, Mark Corbett, Eric Haan, Elizabeth Thompson, Kathryn Friend, Zaamin Hussain, Anna Hackett, Michael Field, Alessandra Renieri, Roger Stevenson, Charles Schwartz, James A.B. Floyd, Jamie Bentham, Catherine Cosgrove, Bernard Keavney, Shoumo Bhattacharya, Italian X‐linked Mental Retardation Project, UK10K Consortium, GOLD Consortium, Matthew Hurles, F. Lucy Raymond

Hum Mutat. 2015 Dec; 36(12): 1197–1204. Published online 2015 Sep 30. doi: 10.1002/humu.22901

PMCID:: PMC4833192

Abstract Article PDF–230K

Select item 46822326.

MECP2 duplication syndrome in a Chinese family

Qingping Zhang, Ying Zhao, Yanling Yang, Xinhua Bao

BMC Med Genet. 2015; 16: 112. Published online 2015 Dec 16. doi: 10.1186/s12881-015-0264-0

PMCID:: PMC4682232

Abstract Article PDF–1.4M

Select item 44460517.

Differentiation of multipotent neural stem cells derived from Rett syndrome patients is biased toward the astrocytic lineage

Tomoko Andoh-Noda, Wado Akamatsu, Kunio Miyake, Takuya Matsumoto, Ryo Yamaguchi, Tsukasa Sanosaka, Yohei Okada, Tetsuro Kobayashi, Manabu Ohyama, Kinichi Nakashima, Hiroshi Kurosawa, Takeo Kubota, Hideyuki Okano

Mol Brain. 2015; 8: 31. Published online 2015 May 27. doi: 10.1186/s13041-015-0121-2

PMCID:: PMC4446051

Abstract Article PDF–3.6M

Select item 42148648.

Inborn errors of copper metabolism

STEPHEN G. KALER

Handb Clin Neurol. Author manuscript; available in PMC 2014 Oct 30.

Published in final edited form as: Handb Clin Neurol. 2013; 113: 1745–1754. doi: 10.1016/B978-0-444-59565-2.00045-9

PMCID:: PMC4214864

Abstract Article PDF–574K

Select item 37115289.

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia

F E Abidi, L Holloway, C A Moore, D D Weaver, R J Simensen, R E Stevenson, R C Rogers, C E Schwartz

J Med Genet. Author manuscript; available in PMC 2013 Jul 15.

Published in final edited form as: J Med Genet. 2008 Dec; 45(12): 787–793. Published online 2008 Aug 12. doi: 10.1136/jmg.2008.058990

PMCID:: PMC3711528

Abstract Article PDF–1.9M

Select item 332222710.

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz

Am J Hum Genet. 2012 Apr 6; 90(4): 579–590. doi: 10.1016/j.ajhg.2012.02.018

PMCID:: PMC3322227

Abstract Article PDF–585K

Select item 302981611.

Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes

Takashi Matsukawa, Muriel Asheuer, Yuji Takahashi, Jun Goto, Yasuyuki Suzuki, Nobuyuki Shimozawa, Hiroki Takano, Osamu Onodera, Masatoyo Nishizawa, Patrick Aubourg, Shoji Tsuji

Neurogenetics. 2011; 12(1): 41–50. Published online 2010 Jul 27. doi: 10.1007/s10048-010-0253-6

PMCID:: PMC3029816

Abstract Article PDF–327K

Select item 173503612.

Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation

A Lossi, F Laugier-Anfossi, D Depetris, J Gecz, A Gedeon, F Kooy, C Schwartz, M Mattei, M Croquette, L Villard

J Med Genet. 2002 Feb; 39(2): 113–117. doi: 10.1136/jmg.39.2.113

PMCID:: PMC1735036

Summary PDF–169K

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