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Items: 1 to 20 of 34

1.
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
Susan Byrne, Lara Jansen, Jean-Marie U-King-Im, Ata Siddiqui, Hart G. W. Lidov, Istvan Bodi, Luke Smith, Rachael Mein, Thomas Cullup, Carlo Dionisi-Vici, Lihadh Al-Gazali, Mohammed Al-Owain, Zandre Bruwer, Khalid Al Thihli, Rana El-Garhy, Kevin M. Flanigan, Kandamurugu Manickam, Erik Zmuda, Wesley Banks, Ruth Gershoni-Baruch, Hanna Mandel, Efrat Dagan, Annick Raas-Rothschild, Hila Barash, Francis Filloux, Donnell Creel, Michael Harris, Ada Hamosh, Stefan Kölker, Darius Ebrahimi-Fakhari, Georg F. Hoffmann, David Manchester, Philip J. Boyer, Adnan Y. Manzur, Charles Marques Lourenco, Daniela T. Pilz, Arveen Kamath, Prab Prabhakar, Vamshi K. Rao, R. Curtis Rogers, Monique M. Ryan, Natasha J. Brown, Catriona A. McLean, Edith Said, Ulrike Schara, Anja Stein, Caroline Sewry, Laura Travan, Frits A. Wijburg, Martin Zenker, Shehla Mohammed, Manolis Fanto, Mathias Gautel, Heinz Jungbluth
Brain. 2016 Mar; 139(3): 765–781. Published online 2016 Feb 17. doi: 10.1093/brain/awv393
PMCID:
PMC4766378
AbstractArticlePDF–1.7M
2.
Possibility of early diagnosis in a fetus affected by Prader-Willi syndrome with maternal hetero-UPD15: A lesson to be learned
Yanling Dong, Shu Liu, Junnan Li, Jian Li, Qian Chen, Jianyun Luo, Chunlei Li, Huifan Li, Hongbo Qi, Rong Li
Mol Med Rep. 2019 Jul; 20(1): 95–102. Published online 2019 May 15. doi: 10.3892/mmr.2019.10246
PMCID:
PMC6580037
AbstractArticlePDF–664K
3.
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
Illja J. Diets, Roos van der Donk, Kristina Baltrunaite, Esmé Waanders, Margot R.F. Reijnders, Alexander J.M. Dingemans, Rolph Pfundt, Anneke T. Vulto-van Silfhout, Laurens Wiel, Christian Gilissen, Julien Thevenon, Laurence Perrin, Alexandra Afenjar, Caroline Nava, Boris Keren, Sarah Bartz, Bethany Peri, Gea Beunders, Nienke Verbeek, Koen van Gassen, Isabelle Thiffault, Maxime Cadieux-Dion, Lina Huerta-Saenz, Matias Wagner, Vassiliki Konstantopoulou, Julia Vodopiutz, Matthias Griese, Annekatrien Boel, Bert Callewaert, Han G. Brunner, Tjitske Kleefstra, Nicoline Hoogerbrugge, Bert B.A. de Vries, Vivian Hwa, Andrew Dauber, Jayne Y. Hehir-Kwa, Roland P. Kuiper, Marjolijn C.J. Jongmans
Am J Hum Genet. 2019 Apr 4; 104(4): 758–766. Published online 2019 Mar 28. doi: 10.1016/j.ajhg.2019.02.023
PMCID:
PMC6451728
AbstractArticlePDF–1.4M
4.
Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia
Angela T. Morgan, Leenke van Haaften, Karen van Hulst, Carol Edley, Cristina Mei, Tiong Yang Tan, David Amor, Simon E. Fisher, David A. Koolen
Eur J Hum Genet. 2018 Jan; 26(1): 75–84. Published online 2017 Dec 11. doi: 10.1038/s41431-017-0035-9
PMCID:
PMC5839037
AbstractArticlePDF–367K
5.
Expanding the neurodevelopmental phenotype of PURA syndrome
Bo Hoon Lee, Margot R.F. Reijnders, Oluwatobi Abubakare, Emily Tuttle, Brynn Lape, Kelly Q. Minks, Christopher Stodgell, Loisa Bennetto, Jennifer Kwon, Chin-To Fong, Karen W. Gripp, Eric D. Marsh, Wendy E. Smith, Ahm M. Huq, Stephanie A. Coury, Wen-Hann Tan, Orestes Solis, Rupal I Mehta, Richard J. Leventer, Diana Baralle, David Hunt, Alex R. Paciorkowski
Am J Med Genet A. Author manuscript; available in PMC 2019 Jan 1.
Published in final edited form as: Am J Med Genet A. 2018 Jan; 176(1): 56–67. Published online 2017 Nov 17. doi: 10.1002/ajmg.a.38521
PMCID:
PMC5821266
AbstractArticlePDF–1.2M
6.
Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition
Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier, Tiffany Busa, Stefanie Beck-Woedl, Laurence Faivre, Jean-Baptiste Rivière, Ingrid Bader, Johannes Koch, André Reis, Ute Hehr, Olaf Rittinger, Wolfgang Sperl, Tobias B Haack, Thomas Wieland, Hartmut Engels, Holger Prokisch, Tim M Strom, Hermann-Josef Lüdecke, Dagmar Wieczorek
Eur J Hum Genet. 2017 Feb; 25(2): 183–191. Published online 2016 Nov 30. doi: 10.1038/ejhg.2016.165
PMCID:
PMC5255962
AbstractArticlePDF–650K
7.
Impaired prohormone processing: a grand unified theory for features of Prader-Willi syndrome?
Joseph Polex-Wolf, Giles S.H. Yeo, Stephen O’Rahilly
J Clin Invest. 2017 Jan 3; 127(1): 98–99. Published online 2016 Dec 12. doi: 10.1172/JCI91307
PMCID:
PMC5199707
AbstractArticlePDF–58K
8.
SCN8A mutation in a child presenting with seizures and developmental delays
Janet Malcolmson, Robert Kleyner, David Tegay, Whit Adams, Kenneth Ward, Justine Coppinger, Lesa Nelson, Miriam H. Meisler, Kai Wang, Reid Robison, Gholson J. Lyon
Cold Spring Harb Mol Case Stud. 2016 Nov; 2(6): a001073. doi: 10.1101/mcs.a001073
PMCID:
PMC5111007
AbstractArticlePDF–1.6M
9.
Developmental Trajectories in 22q11.2 Deletion
Prof. Ann Swillen, Prof. Donna M. McDonald-McGinn
Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2016 Oct 12.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2015 Jun; 169(2): 172–181. Published online 2015 May 18. doi: 10.1002/ajmg.c.31435
PMCID:
PMC5061035
AbstractArticlePDF–557K
10.
Gastrointestinal symptoms as an extended clinical feature of Pierson syndrome: a case report and review of the literature
Kei Nishiyama, Mari Kurokawa, Michiko Torio, Yasunari Sakai, Mitsuru Arima, Shoko Tsukamoto, Satoshi Obata, Shogo Minamikawa, Kandai Nozu, Noriyuki Kaku, Yoshihiko Maehara, Koh-Hei Sonoda, Tomoaki Taguchi, Shouichi Ohga
BMC Med Genet. 2020; 21: 80. Published online 2020 Apr 15. doi: 10.1186/s12881-020-01019-9
PMCID:
PMC7160948
AbstractArticlePDF–1.4M
11.
Reversible Infantile Respiratory Chain Deficiency is a Unique, Genetically Heterogenous Mitochondrial Disease
J Uusimaa, H Jungbluth, C Fratter, G Crisponi, L Feng, M Zeviani, I Hughes, EP Treacy, J Birks, GK Brown, CA Sewry, M McDermott, F Muntoni, J Poulton
J Med Genet. Author manuscript; available in PMC 2015 Sep 8.
Published in final edited form as: J Med Genet. 2011 Oct; 48(10): 660–668. doi: 10.1136/jmg.2011.089995
PMCID:
PMC4562368
AbstractArticlePDF–2.7M
12.
Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times
Alex Habel, Richard Herriot, Dinakantha Kumararatne, Jeremy Allgrove, Kate Baker, Helen Baxendale, Frances Bu’Lock, Helen Firth, Andrew Gennery, Anthony Holland, Claire Illingworth, Nigel Mercer, Merel Pannebakker, Andrew Parry, Anne Roberts, Beverly Tsai-Goodman
Eur J Pediatr. 2014; 173(6): 757–765. Published online 2014 Jan 3. doi: 10.1007/s00431-013-2240-z
PMCID:
PMC4032642
AbstractArticlePDF–460K
13.
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome
Angela L Duker, Blake C Ballif, Erawati V Bawle, Richard E Person, Sangeetha Mahadevan, Sarah Alliman, Regina Thompson, Ryan Traylor, Bassem A Bejjani, Lisa G Shaffer, Jill A Rosenfeld, Allen N Lamb, Trilochan Sahoo
Eur J Hum Genet. 2010 Nov; 18(11): 1196–1201. Published online 2010 Jun 30. doi: 10.1038/ejhg.2010.102
PMCID:
PMC2987474
AbstractArticlePDF–469K
14.
Jacobsen syndrome
Teresa Mattina, Concetta Simona Perrotta, Paul Grossfeld
Orphanet J Rare Dis. 2009; 4: 9. Published online 2009 Mar 7. doi: 10.1186/1750-1172-4-9
PMCID:
PMC2670819
AbstractArticlePDF–729K
15.
The natural history of Noonan syndrome: a long‐term follow‐up study
A C Shaw, K Kalidas, A H Crosby, S Jeffery, M A Patton
Arch Dis Child. 2007 Feb; 92(2): 128–132. Published online 2006 Sep 21. doi: 10.1136/adc.2006.104547
PMCID:
PMC2083343
AbstractArticlePDF–168K
16.
Mulibrey nanism: clinical features and diagnostic criteria
N Karlberg, H Jalanko, J Perheentupa, M Lipsanen-Nyman
J Med Genet. 2004 Feb; 41(2): 92–98. doi: 10.1136/jmg.2003.014118
PMCID:
PMC1735664
SummaryPDF–354K
17.
Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.
A Smith, C Wiles, E Haan, J McGill, G Wallace, J Dixon, R Selby, A Colley, R Marks, R J Trent
J Med Genet. 1996 Feb; 33(2): 107–112. doi: 10.1136/jmg.33.2.107
PMCID:
PMC1051834
SummaryPage BrowsePDF–1.1M
18.
Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China
Dai Yang-Li, Luo Fei-Hong, Zhang Hui-Wen, Ma Ming-Sheng, Luo Xiao-Ping, Liu Li, Wang Yi, Zhou Qing, Jiang Yong-Hui, Zou Chao-Chun, PWS Cooperation Group of Rare Diseases Branch of Chinese Pediatric Society, Zhejiang Expert Group for PWS
Orphanet J Rare Dis. 2022; 17: 221. Published online 2022 Jun 13. doi: 10.1186/s13023-022-02302-z
PMCID:
PMC9195308
AbstractArticlePDF–986K
19.
An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty
Yuto Arai, Tohru Okanishi, Tetsuya Okazaki, Hiroyuki Awano, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Akiko Tamasaki, Yoshihiro Maegaki
BMC Pediatr. 2024; 24: 308. Published online 2024 May 6. doi: 10.1186/s12887-024-04774-3
PMCID:
PMC11071253
AbstractArticlePDF–1.2M
20.
Zellweger Syndrome: A Case Report
Prajwala Yogi, Chunauti Bahik, Rahul Yadav, Puja Bhattarai, Rakshya Pandey, Sunil Raja Manandar
JNMA J Nepal Med Assoc. 2024 Feb; 62(270): 155–157. Published online 2024 Feb 29. doi: 10.31729/jnma.8467
PMCID:
PMC10924519
AbstractArticlePDF–553K

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