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Items: 1 to 20 of 500

1.
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- the new lacunae: a case report
Nuno Álvaro Silva, Renato Emílio Santos Silva, António Augusto Magalhães
BMC Ophthalmol. 2024; 24: 372. Published online 2024 Aug 26. doi: 10.1186/s12886-024-03627-y
PMCID:
PMC11345952
AbstractArticlePDF–1.0M
2.
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations
Gabriela E Jones, Pia Ostergaard, Anthony T Moore, Fiona C Connell, Denise Williams, Oliver Quarrell, Angela F Brady, Isabel Spier, Filiz Hazan, Oana Moldovan, Dagmar Wieczorek, Barbara Mikat, Florence Petit, Christine Coubes, Robert A Saul, Glen Brice, Kristiana Gordon, Steve Jeffery, Peter S Mortimer, Pradeep C Vasudevan, Sahar Mansour
Eur J Hum Genet. 2014 Jul; 22(7): 881–887. Published online 2013 Nov 27. doi: 10.1038/ejhg.2013.263
PMCID:
PMC3938398
AbstractArticlePDF–976K
3.
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome
Matthieu J Schlögel, Antonella Mendola, Elodie Fastré, Pradeep Vasudevan, Koen Devriendt, Thomy JL de Ravel, Hilde Van Esch, Ingele Casteels, Ignacio Arroyo Carrera, Francesca Cristofoli, Karen Fieggen, Katheryn Jones, Mark Lipson, Irina Balikova, Ami Singer, Maria Soller, María Mercedes Villanueva, Nicole Revencu, Laurence M Boon, Pascal Brouillard, Miikka Vikkula
Orphanet J Rare Dis. 2015; 10: 52. Published online 2015 May 2. doi: 10.1186/s13023-015-0271-4
PMCID:
PMC4464120
AbstractArticlePDF–1.6M
4.
A Novel Mutation of KIF11 in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR
Nilay Güneş, Emre Taşdemir, Heather Jeffery, Hüseyin Yetik, Pia Ostergaard, Beyhan Tüysüz
Mol Syndromol. 2019 Jan; 9(5): 266–270. Published online 2018 Jul 20. doi: 10.1159/000491568
PMCID:
PMC6362857
AbstractArticlePDF–606K
5.
Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy
Pia Ostergaard, Michael A. Simpson, Antonella Mendola, Pradeep Vasudevan, Fiona C. Connell, Andreas van Impel, Anthony T. Moore, Bart L. Loeys, Arash Ghalamkarpour, Alexandros Onoufriadis, Ines Martinez-Corral, Sophie Devery, Jules G. Leroy, Lut van Laer, Amihood Singer, Martin G. Bialer, Meriel McEntagart, Oliver Quarrell, Glen Brice, Richard C. Trembath, Stefan Schulte-Merker, Taija Makinen, Miikka Vikkula, Peter S. Mortimer, Sahar Mansour, Steve Jeffery
Am J Hum Genet. 2012 Feb 10; 90(2): 356–362. doi: 10.1016/j.ajhg.2011.12.018
PMCID:
PMC3276660
AbstractArticlePDF–362K
6.
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options
Marta Diñeiro, Raquel Capín, Guadalupe Á. Cifuentes, Beatriz Fernández‐Vega, Eva Villota, Andrea Otero, Adrián Santiago, Patricia C. Pruneda, David Castillo, Mónica Viejo‐Díaz, Inés Hernando, Noelia S. Durán, Rebeca Álvarez, Claudia G. Lago, Gonzalo R. Ordóñez, Álvaro Fernández‐Vega, Rubén Cabanillas, Juan Cadiñanos
Acta Ophthalmol. 2020 Dec; 98(8): e1034–e1048. Published online 2020 Jun 1. doi: 10.1111/aos.14479
PMCID:
PMC7754416
AbstractArticlePDF–945K
7.
Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis
Jia-Kai Li, Ping Fei, Yian Li, Qiu-Jing Huang, Qi Zhang, Xiang Zhang, Yu-Qing Rao, Jing Li, Peiquan Zhao
Sci Rep. 2016; 6: 26564. Published online 2016 May 23. doi: 10.1038/srep26564
PMCID:
PMC4876406
AbstractArticlePDF–887K
8.
Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature
Ghayda M. Mirzaa, Laura Enyedi, Gretchen Parsons, Sarah Collins, Livija Medne, Carissa Adams, Thomas Ward, Bradley Davitt, Alma Bicknese, Elaine Zackai, Helga Toriello, William B. Dobyns, Susan Christian
Am J Med Genet A. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Am J Med Genet A. 2014 Nov; 164(11): 2879–2886. Published online 2014 Aug 12. doi: 10.1002/ajmg.a.36707
Correction in:
Am J Med Genet A. 2015 Nov 14 : 10.1002/ajmg.a.37449.
PMCID:
PMC4205200
AbstractArticlePDF–598K
9.
Clinical Practice Guidelines for Prenatal Aneuploidy Screening and Diagnostic Testing from Korean Society of Maternal-Fetal Medicine: (1) Prenatal Aneuploidy Screening
Seung-Ah Choe, Hyun-Joo Seol, Ji Young Kwon, Chan-Wook Park, Minhyoung Kim, Ji Yeon Lee, Min-A Kim, Han-Sung Hwang, Sunghun Na, Jae-Yoon Shim, Kunwoo Kim, Hyun Mee Ryu
J Korean Med Sci. 2021 Jan 25; 36(4): e27. Published online 2021 Jan 8. doi: 10.3346/jkms.2021.36.e27
PMCID:
PMC7834900
AbstractArticlePDF–2.4M
10.
A Boy With KIF11-Associated Disorder Along With ADHD and ASD: Collaboration Between Paediatrics and Child Psychiatry
Annelien Marcelis, Evelyne Van Reet
Case Rep Psychiatry. 2024; 2024: 5535830. Published online 2024 Sep 25. doi: 10.1155/2024/5535830
PMCID:
PMC11446612
AbstractArticlePDF–312K
11.
Increased endothelial sclerostin caused by elevated DSCAM mediates multiple trisomy 21 phenotypes
David M. McKean, Qi Zhang, Priyanka Narayan, Sarah U. Morton, Viktoria Strohmenger, Vi T. Tang, Sophie McAllister, Ananya Sharma, Daniel Quiat, Daniel Reichart, Daniel M. DeLaughter, Hiroko Wakimoto, Joshua M. Gorham, Kemar Brown, Barbara McDonough, Jon A. Willcox, Min Young Jang, Steven R. DePalma, Tarsha Ward, Pediatric Cardiac Genomics Consortium Investigators, Richard Kim, John D. Cleveland, J.G. Seidman, Christine E. Seidman
J Clin Invest. 2024 Jun 3; 134(11): e167811. Published online 2024 Jun 3. doi: 10.1172/JCI167811
PMCID:
PMC11142749
AbstractArticlePDF–6.7M
12.
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder
Reza Maroofian, Mina Zamani, Rauan Kaiyrzhanov, Lutz Liebmann, Ehsan Ghayoor Karimiani, Barbara Vona, Antje K. Huebner, Daniel G. Calame, Vinod K. Misra, Saeid Sadeghian, Reza Azizimalamiri, Mohammad Hasan Mohammadi, Jawaher Zeighami, Sogand Heydaran, Mehran Beiraghi Toosi, Javad Akhondian, Meisam Babaei, Narges Hashemi, Rhonda E. Schnur, Mohnish Suri, Jonas Setzke, Matias Wagner, Theresa Brunet, Christopher M. Grochowski, Lisa Emrick, Wendy K. Chung, Ute A. Hellmich, Miriam Schmidts, James R. Lupski, Hamid Galehdari, Mariasavina Severino, Henry Houlden, Christian A. Hübner
Genet Med. 2024 Mar; 26(3): 101034. doi: 10.1016/j.gim.2023.101034
PMCID:
PMC11157690
AbstractArticlePDF–3.3M
13.
Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype
Valerie Gartner, Thomas C. Markello, Ellen Macnamara, Andrea De Biase, Audrey Thurm, Lisa Joseph, Alan Beggs, Jeremy D. Schmahmann, Gerard T. Berry, Irina Anselm, Emma Boslet, Cynthia J. Tifft, William A. Gahl, Paul R. Lee
Am J Med Genet A. Author manuscript; available in PMC 2024 Jun 7.
Published in final edited form as: Am J Med Genet A. 2018 Dec; 176(12): 2768–2776. Published online 2018 Dec 11. doi: 10.1002/ajmg.a.40628
PMCID:
PMC11157598
AbstractArticlePDF–849K
14.
Identification of the DNA methylation signature of Mowat-Wilson syndrome
Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, Slavica Trajkova, Roberta Zuntini, Raissa Relator, Sadegheh Haghshenas, Michael A. Levy, Chiara Baldo, Giorgia Mandrile, Carolyn Lauzon, Duccio Maria Cordelli, Ivan Ivanovski, Anna Fetta, Elena Sukarova, Alfredo Brusco, Lisa Pavinato, Verdiana Pullano, Marcella Zollino, Haley McConkey, Marco Tartaglia, Giovanni Battista Ferrero, Bekim Sadikovic, Livia Garavelli
Eur J Hum Genet. 2024 Jun; 32(6): 619–629. Published online 2024 Feb 13. doi: 10.1038/s41431-024-01548-4
PMCID:
PMC11153515
AbstractArticlePDF–3.6M
15.
Forniceal deep brain stimulation in a mouse model of Rett syndrome increases neurogenesis and hippocampal memory beyond the treatment period
Qi Wang, Bin Tang, Shuang Hao, Zhenyu Wu, Tingting Yang, Jianrong Tang
Brain Stimul. Author manuscript; available in PMC 2024 Jun 5.
Published in final edited form as: Brain Stimul. 2023 Sep-Oct; 16(5): 1401–1411. Published online 2023 Sep 11. doi: 10.1016/j.brs.2023.09.002
PMCID:
PMC11152200
AbstractArticlePDF–2.5M
16.
Choroid plexus defects in Down syndrome brain organoids enhance neurotropism of SARS-CoV-2
Mohammed R. Shaker, Andrii Slonchak, Bahaa Al-mhanawi, Sean D. Morrison, Julian D. J. Sng, Justin Cooper-White, Alexander A. Khromykh, Ernst J. Wolvetang
Sci Adv. 2024 Jun 7; 10(23): eadj4735. Published online 2024 Jun 5. doi: 10.1126/sciadv.adj4735
PMCID:
PMC11152128
AbstractArticlePDF–21M
17.
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
Andrea Accogli, Sheng-Jia Lin, Mariasavina Severino, Sung-Hoon Kim, Kevin Huang, Clarissa Rocca, Megan Landsverk, Maha S. Zaki, Almundher Al-Maawali, Varunvenkat M. Srinivasan, Khalid Al-Thihli, G. Bradly Schaefer, Monica Davis, Davide Tonduti, Chiara Doneda, Lara M. Marten, Chris Mühlhausen, Maria Gomez, Eleonora Lamantea, Rafael Mena, Mathilde Nizon, Vincent Procaccio, Amber Begtrup, Aida Telegrafi, Hong Cui, Heidi L. Schulz, Julia Mohr, Saskia Biskup, Mariana Amina Loos, Hilda Verónica Aráoz, Vincenzo Salpietro, Laura Davis Keppen, Manali Chitre, Cassidy Petree, Lucy Raymond, Julie Vogt, Lindsey B. Sawyer, Alice A. Basinger, Signe Vandal Pedersen, Toni S. Pearson, Dorothy K. Grange, Lokesh Lingappa, Paige McDunnah, Rita Horvath, Benjamin Cognè, Bertrand Isidor, Andreas Hahn, Karen W. Gripp, Seyed Mehdi Jafarnejad, Elsebet Østergaard, Carlos E. Prada, Daniele Ghezzi, Vykuntaraju K. Gowda, Robert W. Taylor, Nahum Sonenberg, Henry Houlden, Marie Sissler, Gaurav K. Varshney, Reza Maroofian
Genet Med. 2023 Nov; 25(11): 100938. doi: 10.1016/j.gim.2023.100938
PMCID:
PMC11157694
AbstractArticlePDF–3.9M
18.
Dissecting the roles of EIF4G homologs reveals DAP5 as a modifier of CGG repeat-associated toxicity in a Drosophila model of FXTAS
Indranil Malik, Yi-Ju Tseng, Clare M. Wieland, Katelyn M. Green, Kristina Zheng, Katyanne Calleja, Peter K. Todd
Neurobiol Dis. Author manuscript; available in PMC 2024 Jun 4.
Published in final edited form as: Neurobiol Dis. 2023 Aug; 184: 106212. Published online 2023 Jun 22. doi: 10.1016/j.nbd.2023.106212
PMCID:
PMC11149892
AbstractArticlePDF–2.0M
19.
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature
Christina L. Magyar, David R. Murdock, Lindsay C. Burrage, Hongzheng Dai, Seema R. Lalani, Richard A. Lewis, Yuezhen Lin, Marcela F. Astudillo, Jill A. Rosenfeld, Alyssa A. Tran, James B. Gibson, Undiagnosed Diseases Network, Carlos A. Bacino, Brendan H. Lee, Hsiao-Tuan Chao
Am J Med Genet A. Author manuscript; available in PMC 2024 Jun 4.
Published in final edited form as: Am J Med Genet A. 2022 Jun; 188(6): 1868–1874. Published online 2022 Feb 23. doi: 10.1002/ajmg.a.62704
PMCID:
PMC11149102
AbstractArticlePDF–855K
20.
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals
Lottie D. Morison, Milou G. P. Kennis, Dmitrijs Rots, Arianne Bouman, Joost Kummeling, Elizabeth E. Palmer, Adam P. Vogel, Frederique Liégeois, Amanda Brignell, Siddharth Srivastava, Zoe Frazier, Di Milnes, Himanshu Goel, David J. Amor, Ingrid E. Scheffer, Tjitske Kleefstra, Angela T. Morgan
J Med Genet. Author manuscript; available in PMC 2024 Jun 4.
Published in final edited form as: J Med Genet. 2024 May 21; 61(6): 578–585. Published online 2024 May 21. doi: 10.1136/jmg-2023-109702
PMCID:
PMC11148766
AbstractArticlePDF–1.3M

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