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Items: 1 to 20 of 27

1.
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2
Lottie D Morison, Elisabeth Meffert, Miriam Stampfer, Irene Steiner-Wilke, Brigitte Vollmer, Katrin Schulze, Tracy Briggs, Ruth Braden, Adam Vogel, Daisy Thompson-Lake, Chirag Patel, Edward Blair, Himanshu Goel, Samantha Turner, Ute Moog, Angelika Riess, Frederique Liegeois, David A Koolen, David J Amor, Tjitske Kleefstra, Simon E Fisher, Christiane Zweier, Angela T Morgan
J Med Genet. 2023 Jun; 60(6): 597–607. Published online 2022 Nov 3. doi: 10.1136/jmg-2022-108734
PMCID:
PMC10314088
ArticlePubReaderPDF–691KCite
2.
Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report
Jinying Wu, Meifang Lei, Xuetao Wang, Nan Liu, Xiaowei Xu, Chunyu Gu, Yuping Yu, Wei Liu
Ital J Pediatr. 2022; 48: 204. Published online 2022 Dec 29. doi: 10.1186/s13052-022-01398-0
Correction in:
Ital J Pediatr. 2023; 49: 32.
PMCID:
PMC9798715
ArticlePubReaderPDF–1.5MCite
3.
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
ArticlePubReaderPDF–986KCite
4.
Case Report: Hepatic Adenomatosis in a Patient With Prader–Willi Syndrome
Hajar Dauleh, Ali Soliman, Basma Haris, Amal Khalifa, Noor Al Khori, Khalid Hussain
Front Endocrinol (Lausanne) 2022; 13: 826772. Published online 2022 Mar 9. doi: 10.3389/fendo.2022.826772
PMCID:
PMC8959895
ArticlePubReaderPDF–1.4MCite
5.
Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder
Jesse M. Hunter, Lauren J. Massingham, Kandamurugu Manickam, Dennis Bartholomew, Rachel K. Williamson, Jennifer L. Schwab, Mohammad Marhabaie, Amy Siemon, Emily de los Reyes, Shalini C. Reshmi, Catherine E. Cottrell, Richard K. Wilson, Daniel C. Koboldt
Cold Spring Harb Mol Case Stud. 2022 Feb; 8(2): a006180. doi: 10.1101/mcs.a006180
PMCID:
PMC8958914
ArticlePubReaderPDF–3.5MCite
6.
联合氧化磷酸化缺陷症1型一家系临床表型及 GFM1基因突变分析
Yaping SHEN, Kai YAN, Minyue DONG, Rulai YANG, Xinwen HUANG
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2020 Oct 25; 49(5): 574–580. Chinese. doi: 10.3785/j.issn.1008-9292.2020.10.04
PMCID:
PMC8800753
ArticlePubReaderPDF–5.3MCite
7.
Neonatal Schwartz-Jampel syndrome type II: a rare case of peripheral origin of neonatal hypertonia
Arjun Verma, Nishant Banait, Pradeep Suryawanshi, Reema Garegrat
BMJ Case Rep. 2021; 14(7): e240397. Published online 2021 Jul 12. doi: 10.1136/bcr-2020-240397
PMCID:
PMC8276156
ArticlePubReaderPDF–612KCite
8.
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa
Valeria Cinquina, Claudia Ciaccio, Marina Venturini, Riccardo Masson, Marco Ritelli, Marina Colombi
Mol Genet Genomic Med. 2021 Jan; 9(1): e1562. Published online 2020 Dec 4. doi: 10.1002/mgg3.1562
PMCID:
PMC7963414
ArticlePubReaderPDF–1.0MCite
9.
Infantile presentation of 3q26.33-3q27.2 deletion syndrome
Renee Robilliard, Mustafa Caylan
BMJ Case Rep. 2020; 13(11): e233215. Published online 2020 Nov 30. doi: 10.1136/bcr-2019-233215
PMCID:
PMC7705523
ArticlePubReaderPDF–1.5MCite
10.
Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report
Linfeng Yang, Bin Guo, Weiwei Zhu, Lei Wang, Bingjuan Han, Yena Che, Lingfei Guo
BMC Pediatr. 2020; 20: 287. Published online 2020 Jun 9. doi: 10.1186/s12887-020-02027-7
PMCID:
PMC7282141
ArticlePubReaderPDF–3.9MCite
11.
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
ArticlePubReaderPDF–1.4MCite
12.
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
ArticlePubReaderPDF–664KCite
13.
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
ArticlePubReaderPDF–1.4MCite
14.
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
ArticlePubReaderPDF–367KCite
15.
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
ArticlePubReaderPDF–1.2MCite
16.
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
ArticlePubReaderPDF–650KCite
17.
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
ArticlePubReaderPDF–58KCite
18.
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
ArticlePubReaderPDF–1.6MCite
19.
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
ArticlePubReaderPDF–557KCite
20.
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
ArticlePubReaderPDF–1.7MCite

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