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Items: 1 to 20 of 90

1.
Developmental delay and progressive seizures in 2‐month‐old child with diffuse MRI abnormalities
Marion K Mateos, Nikhil Birdi, Anna P. Basu, Michael Wright, Abhijit Joshi, Srinivas Annavarapu, Thomas S. Jacques, Dipayan Mitra, Simon Bailey
Brain Pathol. 2022 Jul; 32(4): e13049. Published online 2022 Jan 17. doi: 10.1111/bpa.13049
Correction in:
Brain Pathol. 2022 Nov; 32(6): e13127.
PMCID:
PMC9234477
ArticlePubReaderPDF–2.7MCite
2.
Brain overgrowth associated with megalencephaly-capillary malformation syndrome causing progressive Chiari and syringomyelia
Tom Deleu, Katrien Jansen, Frank Van Calenbergh
Surg Neurol Int. 2022; 13: 211. Published online 2022 May 20. doi: 10.25259/SNI_1016_2021
PMCID:
PMC9168292
ArticlePubReaderPDF–352KCite
3.
A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance
Siren Berland, Trine L. Toft-Bertelsen, Ingvild Aukrust, Jan Byska, Marc Vaudel, Laurence A. Bindoff, Nanna MacAulay, Gunnar Houge
Cold Spring Harb Mol Case Stud. 2018 Feb; 4(1): a002303. doi: 10.1101/mcs.a002303
PMCID:
PMC5793774
ArticlePubReaderPDF–17MCite
4.
High Incidence of Progressive Postnatal Cerebellar Enlargement in Costello Syndrome: Brain Overgrowth Associated with HRAS Mutations as the Likely Cause of Structural Brain and Spinal Cord Abnormalities
Karen W. Gripp, Elisabeth Hopkins, Daniel Doyle, William B. Dobyns
Am J Med Genet A. Author manuscript; available in PMC 2016 Jun 16.
Published in final edited form as: Am J Med Genet A. 2010 May; 152A(5): 1161–1168. doi: 10.1002/ajmg.a.33391
PMCID:
PMC4910816
ArticlePubReaderPDF–709KCite
5.
Unusual presentation of Sturge-Weber syndrome: Progressive megalencephaly with bilateral cutaneous and cortical involvement
Kundan Mittal, Jaya Shankar Kaushik, Gurpreet Kaur, Mohd Aamir, Suvasini Sharma
Ann Indian Acad Neurol. 2014 Apr-Jun; 17(2): 207–208. doi: 10.4103/0972-2327.132633
PMCID:
PMC4090850
ArticlePubReaderPDF–372KCite
6.
NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome
Vanessa I. Romero, Benjamin Arias-Almeida, Stefanie A. Aguiar
BMC Genomics. 2022; 23: 849. Published online 2022 Dec 22. doi: 10.1186/s12864-022-09071-w
PMCID:
PMC9783842
ArticlePubReaderPDF–2.0MCite
7.
High-grade desmoplastic infantile astrocytoma in a 1-year-old child with Down’s syndrome: a case report
Muhammad Hamza Habib, Mehvish Zahra Alavi, Amber Goraya, Samina Zaman, Alia Ahmed
J Med Case Rep. 2022; 16: 427. Published online 2022 Nov 4. doi: 10.1186/s13256-022-03615-0
PMCID:
PMC9635066
ArticlePubReaderPDF–2.0MCite
8.
软骨发育不全患儿的临床特征及FGFR3基因变异分析
张 惠琴, 陶 东英, 张 静静, 牛 焕红, 罗 建峰, 成 胜权
Zhongguo Dang Dai Er Ke Za Zhi. 2022 Apr 15; 24(4): 405–410. Chinese. doi: 10.7499/j.issn.1008-8830.2111039
PMCID:
PMC9044984
ArticlePubReaderPDF–630KCite
9.
Megalencephalic leukoencephalopathy with subcortical cysts is a developmental disorder of the gliovascular unit
Alice Gilbert, Xabier Elorza-Vidal, Armelle Rancillac, Audrey Chagnot, Mervé Yetim, Vincent Hingot, Thomas Deffieux, Anne-Cécile Boulay, Rodrigo Alvear-Perez, Salvatore Cisternino, Sabrina Martin, Sonia Taïb, Aontoinette Gelot, Virginie Mignon, Maryline Favier, Isabelle Brunet, Xavier Declèves, Mickael Tanter, Raul Estevez, Denis Vivien, Bruno Saubaméa, Martine Cohen-Salmon
eLife. 2021; 10: e71379. Published online 2021 Nov 1. doi: 10.7554/eLife.71379
PMCID:
PMC8598235
ArticlePubReaderPDF–16MCite
10.
Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy
Amy Pizzino, Matthew Whitehead, Parisa Sabet Rasekh, Jennifer Murphy, Guy Helman, Miriam Bloom, Sarah H. Evans, John G. Murnick, Joan Conry, Ryan J. Taft, Cas Simons, Adeline Vanderver, Laura A. Adang
Am J Med Genet A. Author manuscript; available in PMC 2021 Apr 7.
Published in final edited form as: Am J Med Genet A. 2018 Jun; 176(6): 1443–1448. Published online 2018 Apr 25. doi: 10.1002/ajmg.a.38717
PMCID:
PMC8025690
ArticlePubReaderPDF–263KCite
11.
Primrose syndrome: Characterization of the phenotype in 42 patients
Daniela Melis, Daniel Carvalho, Tina Barbaro‐Dieber, Alberto J. Espay, Michael J. Gambello, Blanca Gener, Erica Gerkes, Marrit M. Hitzert, Hanne B. Hove, Sandra Jansen, Petr E. Jira, Katherine Lachlan, Leonie A. Menke, Vinodh Narayanan, Damara Ortiz, Eline Overwater, Renata Posmyk, Keri Ramsey, Alessandro Rossi, Renata Lazari Sandoval, Constance Stumpel, Kyra E. Stuurman, Viviana Cordeddu, Peter Turnpenny, Pietro Strisciuglio, Marco Tartaglia, Sheela Unger, Todd Waters, Clare Turnbull, Raoul C. Hennekam
Clin Genet. 2020 Jun; 97(6): 890–901. Published online 2020 Apr 20. doi: 10.1111/cge.13749
PMCID:
PMC7384157
ArticlePubReaderPDF–2.0MCite
12.
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
Aurélien Juven, Sophie Nambot, Amélie Piton, Nolwenn Jean-Marçais, Alice Masurel, Patrick Callier, Nathalie Marle, Anne-Laure Mosca-Boidron, Paul Kuentz, Christophe Philippe, Martin Chevarin, Yannis Duffourd, Elodie Gautier, Arnold Munnich, Marlène Rio, Sophie Rondeau, Salima El Chehadeh, Élise Schaefer, Bénédicte Gérard, Sonia Bouquillon, Catherine Vincent Delorme, Christine Francannet, Fanny Laffargue, Laetitia Gouas, Bertrand Isidor, Marie Vincent, Sophie Blesson, Fabienne Giuliano, Olivier Pichon, Cédric Le Caignec, Hubert Journel, Laurence Perrin-Sabourin, Jennifer Fabre-Teste, Dominique Martin, Gaelle Vieville, Klaus Dieterich, Didier Lacombe, Anne-Sophie Denommé-Pichon, Christel Thauvin-Robinet, Laurence Faivre
Eur J Hum Genet. 2020 Aug; 28(8): 1044–1055. Published online 2020 Feb 18. doi: 10.1038/s41431-020-0582-3
PMCID:
PMC7382504
ArticlePubReaderPDF–2.1MCite
13.
Bipolar disorder in megalencephalic leukoencephalopathy with subcortical cysts: a case report
Masanori Ishikawa, Yoshie Omachi, Noriko Sato, Eiji Nakagawa
BMC Psychiatry. 2020; 20: 349. Published online 2020 Jul 3. doi: 10.1186/s12888-020-02750-6
PMCID:
PMC7333431
ArticlePubReaderPDF–1.9MCite
14.
Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report
Petar Šenjug, Tamara Nikuševa Martić, Marija Šenjug Perica, Maja Oroz, Matija Horaček, Martin Ćuk, Slaven Abdović, Danica Galešić Ljubanović
Croat Med J. 2019 Oct; 60(5): 458–462. doi: 10.3325/cmj.2019.60.458
PMCID:
PMC6852137
ArticlePubReaderPDF–629KCite
15.
Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation
Boglarka Bansagi, Vietxuan Phan, Mark R. Baker, Julia O'Sullivan, Matthew J. Jennings, Roger G. Whittaker, Juliane S. Müller, Jennifer Duff, Helen Griffin, James A.L. Miller, Grainne S. Gorman, Hanns Lochmüller, Patrick F. Chinnery, Andreas Roos, Laura E. Swan, Rita Horvath
Neurology. 2018 May 22; 90(21): e1842–e1848. doi: 10.1212/WNL.0000000000005566
PMCID:
PMC5962916
ArticlePubReaderPDF–1.3MCite
16.
A Rasopathy Phenotype With Severe Congenital Hypertrophic Obstructive Cardiomyopathy Associated With a PTPN11 Mutation and a Novel Variant in SOS1
Jill A. Fahrner, Aisha Frazier, Suha Bachir, Michael F. Walsh, Carolyn D. Applegate, Reid Thompson, Marc K. Halushka, Anne M. Murphy, Meral Gunay-Aygun
Am J Med Genet A. Author manuscript; available in PMC 2016 Nov 9.
Published in final edited form as: Am J Med Genet A. 2012 Jun; 158A(6): 1414–1421. Published online 2012 May 14. doi: 10.1002/ajmg.a.35363
PMCID:
PMC5101836
ArticlePubReaderPDF–488KCite
17.
Megalencephalic leucoencephalopathy with subcortical cysts: subcortical diffuse leucoencephalopathy associated with white matter cystic degeneration
Prafulla Kumar Dash, Dinesh Harvey Raj, Hrushikesh Sahu
BMJ Case Rep. 2015; 2015: bcr2015211921. Published online 2015 Sep 21. doi: 10.1136/bcr-2015-211921
PMCID:
PMC4577658
ArticlePubReaderPDF–530KCite
18.
Clinical Delineation and Natural History of the PIK3CA-Related Overgrowth Spectrum
Kim M Keppler-Noreuil, Julie C Sapp, Marjorie J Lindhurst, Victoria ER Parker, Cathy Blumhorst, Thomas Darling, Laura L Tosi, Susan M Huson, Richard W Whitehouse, Eveliina Jakkula, Ian Grant, Meena Balasubramanian, Kate E Chandler, Jamie L Fraser, Zoran Gucev, Yanick J Crow, Leslie Manace Brennan, Robin Clark, Elizabeth A Sellars, Loren DM Pena, Vidya Krishnamurty, Andrew Shuen, Nancy Braverman, Michael L Cunningham, V Reid Sutton, Velibor Tasic, John M Graham, Jr., Joseph Geer, Jr., Alex Henderson, Robert K Semple, Leslie G Biesecker
Am J Med Genet A. 2014 Jul; 164(7): 1713–1733. Published online 2014 Apr 29. doi: 10.1002/ajmg.a.36552
PMCID:
PMC4320693
ArticlePubReaderPDF–3.7MCite
19.
Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant - Case report
Gabriela Maria Abreu Gontijo, Clóvis Antonio Lopes Pinto, Silvia Regina Rogatto, Isabela Werneck da Cunha, Samuel Aguiar Junior, Célia Antônia Xavier de Moraes Alves
An Bras Dermatol. 2013 Nov-Dec; 88(6): 982–985. doi: 10.1590/abd1806-4841.20132730
PMCID:
PMC3900354
ArticlePubReaderPDF–147KCite
20.
A Case of Campomelic Dysplasia without Sex Reversal
Hyoung-Young Kim, Chong Hyun Yoon, Gu-Hwan Kim, Han-Wook Yoo, Byong Sop Lee, Ki Soo Kim, Ellen Ai-Rhan Kim
J Korean Med Sci. 2011 Jan; 26(1): 143–145. Published online 2010 Dec 22. doi: 10.3346/jkms.2011.26.1.143
PMCID:
PMC3012840
ArticlePubReaderPDF–702KCite

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