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Items: 1 to 20 of 29

1.
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome
Milena Crippa, Ilaria Bestetti, Silvia Maitz, Karin Weiss, Alice Spano, Maura Masciadri, Sarah Smithson, Lidia Larizza, Karen Low, Lior Cohen, Palma Finelli
Front Neurol. 2020; 11: 631. Published online 2020 Jul 24. doi: 10.3389/fneur.2020.00631
PMCID:
PMC7393934
ArticlePDF–1.8M
2.
Prenatal diagnosis of 7q11.23 microdeletion: Two cases report and literature review
Xin Lv, Xiao Yang, Linlin Li, Fagui Yue, Hongguo Zhang, Ruixue Wang
Medicine (Baltimore) 2023 Oct 27; 102(43): e34852. Published online 2023 Oct 27. doi: 10.1097/MD.0000000000034852
PMCID:
PMC10615468
ArticlePDF–642K
3.
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie-Pier Scott-Boyer, Geeske M. van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M.W. Teurlings, Virginie Vignard, Richard H. van Jaarsveld, Lesley Ades, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C.J. Jongmans, F. Sessions Cole, Marie-José H. van den Boogaard, Jennifer A. Wambach, Daniel J. Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan Towne, Kristine Bachman, Andrea Seeley, Anita E. Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T. Carter, Matthew Osmond, Patricia G. Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon Hakonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Günther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frédéric Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E. Eichler, Ype Elgersma, Peter W. Hildebrand, François Bolduc, Elke Krüger, Stéphane Bézieau
Sci Transl Med. Author manuscript; available in PMC 2023 Nov 30.
Published in final edited form as: Sci Transl Med. 2023 May 31; 15(698): eabo3189. Published online 2023 May 31. doi: 10.1126/scitranslmed.abo3189
PMCID:
PMC10506367
ArticlePDF–2.2M
4.
A case report of Williams syndrome with main clinical manifestation of hypercalcemia and gastrointestinal bleeding as the main clinical manifestations, and with an accompanying literature review
Hong Meng, Yue‐Xin Jia, Hui‐Min Yang, Xin Gao, Cha‐Gan‐Hu Li, Guo‐Yan Xin, Yu‐Min Wang
Brain Behav. 2023 Aug; 13(8): e3131. Published online 2023 Jun 20. doi: 10.1002/brb3.3131
PMCID:
PMC10454276
ArticlePDF–390K
5.
White-Sutton syndrome and congenital heart disease: case report and literature review
Jing Duan, Yuanzhen Ye, Jianxiang Liao, Li Chen, Xia Zhao, Chao Liu, Jialun Wen
BMC Pediatr. 2023; 23: 158. Published online 2023 Apr 4. doi: 10.1186/s12887-023-03972-9
PMCID:
PMC10071667
ArticlePDF–1.2M
6.
Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer’s disease: a cross-sectional study
Anna H. Boerwinkle, Brian A. Gordon, Julie Wisch, Shaney Flores, Rachel L. Henson, Omar H. Butt, Nicole McKay, Charles D. Chen, Tammie L.S. Benzinger, Anne M. Fagan, Benjamin L. Handen, Bradley T. Christian, Elizabeth Head, Mark Mapstone, William E. Klunk, Michael S. Rafii, Sid O’Bryant, Julie C. Price, Nicole Schupf, Charles M. Laymon, Sharon J. Krinsky-McHale, Florence Lai, H. Diana Rosas, Sigan L. Hartley, Shahid H. Zaman, Ira T. Lott, Wayne Silverman, Adam M. Brickman, Joseph H. Lee, Ricardo F. Allegri, Sarah B. Berman, Jasmeer P. Chhatwal, Carlos Cruchaga, Nick C. Fox, Alison M. Goate, Gregory S. Day, Neill R. Graff-Radford, Mathias Jucker, Jae-Hong Lee, Johannes Levin, Hiroshi Mori, Richard J. Perrin, Stephen Salloway, Peter R. Schofield, Chengjie Xiong, Celeste M. Karch, Jason Hassenstab, Eric McDade, Randall J. Bateman, Beau M. Ances, Alzheimer’s Biomarker Consortium-Down Syndrome, the Dominantly Inherited Alzheimer Network
Lancet Neurol. Author manuscript; available in PMC 2024 Jan 1.
Published in final edited form as: Lancet Neurol. 2023 Jan; 22(1): 55–65. doi: 10.1016/S1474-4422(22)00408-2
PMCID:
PMC9979840
ArticlePDF–1.4M
7.
Expansion of the genotypic and phenotypic spectrum of CTCF-related disorder guides clinical management: 43 new subjects and a comprehensive literature review
Hannah Gabriela Valverde de Morales, Hsiao-Lin V. Wang, Kathryn Garber, Xiaodong Cheng, Victor G. Corces, Hong Li
Am J Med Genet A. Author manuscript; available in PMC 2024 Mar 1.
Published in final edited form as: Am J Med Genet A. 2023 Mar; 191(3): 718–729. Published online 2022 Dec 1. doi: 10.1002/ajmg.a.63065
PMCID:
PMC9928606
ArticlePDF–1.4M
8.
Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy
Susanne Rinné, Birgit Stallmeyer, Alexandra Pinggera, Michael F. Netter, Lina A. Matschke, Sven Dittmann, Uwe Kirchhefer, Ulrich Neudorf, Joachim Opp, Jörg Striessnig, Niels Decher, Eric Schulze-Bahr
Int J Mol Sci. 2022 Nov; 23(22): 14215. Published online 2022 Nov 17. doi: 10.3390/ijms232214215
PMCID:
PMC9693521
ArticlePDF–3.1M
9.
Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome
Liselot van der Laan, Kathleen Rooney, Mariëlle Alders, Raissa Relator, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Peter Lauffer, Mio Aerden, Miel Theunis, Eric Legius, Matthew L. Tedder, Lisenka E. L. M. Vissers, Saskia Koene, Claudia Ruivenkamp, Mariette J. V. Hoffer, Dagmar Wieczorek, Nuria C. Bramswig, Theresia Herget, Vanesa López González, Fernando Santos-Simarro, Pernille M. Tørring, Anne-Sophie Denomme-Pichon, Bertrand Isidor, Boris Keren, Sophie Julia, Elise Schaefer, Christine Francannet, Pierre-Yves Maillard, Mala Misra-Isrie, Hilde Van Esch, Marcel M. A. M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman
Int J Mol Sci. 2022 Nov; 23(22): 13664. Published online 2022 Nov 8. doi: 10.3390/ijms232213664
PMCID:
PMC9690904
ArticlePDF–4.5M
10.
Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature
Špela Miroševič, Shivang Khandelwal, Petra Sušjan, Nina Žakelj, David Gosar, Vida Forstnerič, Duško Lainšček, Roman Jerala, Damjan Osredkar
Int J Mol Sci. 2022 Oct; 23(20): 12564. Published online 2022 Oct 19. doi: 10.3390/ijms232012564
PMCID:
PMC9604177
ArticlePDF–3.1M
11.
Characterization of 22q12 Microdeletions Causing Position Effect in Rare NF2 Patients with Complex Phenotypes
Viviana Tritto, Marica Eoli, Rosina Paterra, Serena Redaelli, Marco Moscatelli, Francesco Rusconi, Paola Riva
Int J Mol Sci. 2022 Sep; 23(17): 10017. Published online 2022 Sep 2. doi: 10.3390/ijms231710017
PMCID:
PMC9456353
ArticlePDF–2.4M
12.
Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3
Anna Kutkowska-Kaźmierczak, Maria Boczar, Ewa Kalka, Jennifer Castañeda, Jakub Klapecki, Aleksandra Pietrzyk, Artur Barczyk, Olga Malinowska, Aleksandra Landowska, Tomasz Gambin, Katarzyna Kowalczyk, Barbara Wiśniowiecka-Kowalnik, Marta Smyk, Mateusz Dawidziuk, Katarzyna Niepokój, Magdalena Paczkowska, Paweł Szyld, Beata Lipska-Ziętkiewicz, Krzysztof Szczałuba, Ewa Kostyk, Agata Runge, Karolina Rutkowska, Rafał Płoski, Beata Nowakowska, Jerzy Bal, Ewa Obersztyn, Monika Gos
Genes (Basel) 2021 Aug; 12(8): 1257. Published online 2021 Aug 17. doi: 10.3390/genes12081257
PMCID:
PMC8394041
ArticlePDF–2.0M
13.
1例新生儿常染色体显性智力障碍21型病例报告
陈 兰, 赫 纹, 刘 玲
Zhongguo Dang Dai Er Ke Za Zhi. 2021 Mar 15; 23(3): 306–309. Chinese. doi: 10.7499/j.issn.1008-8830.2010095
PMCID:
PMC7969196
ArticlePDF–1.3M
14.
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities
Lot Snijders Blok, Arianna Vino, Joery den Hoed, Hunter R. Underhill, Danielle Monteil, Hong Li, Francis Jeshira Reynoso Santos, Wendy K. Chung, Michelle D. Amaral, Rhonda E. Schnur, Teresa Santiago-Sim, Yue Si, Han G. Brunner, Tjitske Kleefstra, Simon E. Fisher
Genet Med. 2021; 23(3): 534–542. Published online 2020 Oct 28. doi: 10.1038/s41436-020-01016-6
PMCID:
PMC7935712
ArticlePDF–1.0M
15.
Cluster of differentiation 8 and programmed cell death ligand 1 expression in triple-negative breast cancer combined with autosomal dominant polycystic kidney disease and tuberous sclerosis complex: a case report
Kenji Gonda, Takanori Akama, Takayuki Nakamura, Eiko Hashimoto, Naomi Kyoya, Yuichi Rokkaku, Yuko Maejima, Shoichiro Horita, Kazunoshin Tachibana, Noriko Abe, Tohru Ohtake, Kenju Shimomura, Koji Kono, Shigehira Saji, Seiichi Takenoshita, Eiji Higashihara
J Med Case Rep. 2019; 13: 381. Published online 2019 Dec 24. doi: 10.1186/s13256-019-2274-6
PMCID:
PMC6929341
ArticlePDF–1.1M
16.
Early Striatal Amyloid Deposition Distinguishes Down Syndrome and Autosomal Dominant AD from Late Onset Amyloid Deposition
Ann D. Cohen, Eric McDade, Brad Christian, Julie Price, Chester Mathis, William Klunk, Benjamin L. Handen
Alzheimers Dement. Author manuscript; available in PMC 2019 Jun 1.
Published in final edited form as: Alzheimers Dement. 2018 Jun; 14(6): 743–750. Published online 2018 Mar 1. doi: 10.1016/j.jalz.2018.01.002
PMCID:
PMC5994364
ArticlePDF–549K
17.
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis
Francesca Mattioli, Elise Schaefer, Alex Magee, Paul Mark, Grazia M. Mancini, Klaus Dieterich, Gretchen Von Allmen, Marielle Alders, Charles Coutton, Marjon van Slegtenhorst, Gaëlle Vieville, Mark Engelen, Jan Maarten Cobben, Jane Juusola, Aurora Pujol, Jean-Louis Mandel, Amélie Piton
Am J Hum Genet. 2017 Jan 5; 100(1): 105–116. Published online 2016 Dec 8. doi: 10.1016/j.ajhg.2016.11.010
PMCID:
PMC5223023
ArticlePDF–1.7M
18.
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
Alma Kuechler, Alexander M Zink, Thomas Wieland, Hermann-Josef Lüdecke, Kirsten Cremer, Leonardo Salviati, Pamela Magini, Kimia Najafi, Christiane Zweier, Johanna Christina Czeschik, Stefan Aretz, Sabine Endele, Federica Tamburrino, Claudia Pinato, Maurizio Clementi, Jasmin Gundlach, Carina Maylahn, Laura Mazzanti, Eva Wohlleber, Thomas Schwarzmayr, Roxana Kariminejad, Avner Schlessinger, Dagmar Wieczorek, Tim M Strom, Gaia Novarino, Hartmut Engels
Eur J Hum Genet. 2015 Jun; 23(6): 753–760. Published online 2014 Aug 20. doi: 10.1038/ejhg.2014.165
PMCID:
PMC4795044
ArticlePDF–5.0M
19.
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome
Bo Yuan, Tamar Harel, Shen Gu, Pengfei Liu, Lydie Burglen, Sandra Chantot-Bastaraud, Violet Gelowani, Christine R. Beck, Claudia M.B. Carvalho, Sau Wai Cheung, Andrew Coe, Valérie Malan, Arnold Munnich, Pilar L. Magoulas, Lorraine Potocki, James R. Lupski
Am J Hum Genet. 2015 Nov 5; 97(5): 691–707. Published online 2015 Nov 5. doi: 10.1016/j.ajhg.2015.10.003
PMCID:
PMC4667131
ArticlePDF–2.0M
20.
Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities
Cameron Mroske, Kristen Rasmussen, Deepali N. Shinde, Robert Huether, Zoe Powis, Hsiao-Mei Lu, Ruth M. Baxter, Elizabeth McPherson, Sha Tang
BMC Med Genet. 2015; 16: 102. Published online 2015 Nov 5. doi: 10.1186/s12881-015-0240-8
PMCID:
PMC4635597
ArticlePDF–1.4M

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