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Items: 1 to 20 of 181

1.
Phenotype of patients with late diagnosis of 22q11 deletion: a review and retrospective study
Marissa Loh, Tamar Schildkraut, Angela Byrnes, Nikki Gelfand, Lucy Gugasyan, Ari E. Horton, Matthew F. Hunter, Samar Ojaimi
Intern Med J. 2024 Dec; 54(12): 2015–2026. Published online 2024 Oct 19. doi: 10.1111/imj.16534
PMCID:
PMC11610662
AbstractArticlePDF–501K
2.
Favourable dentoalveolar changes after lower premolar extractions for Class III camouflage with completely customized lingual appliances
Lea C. Thiem, Per Rank, Jonas Q. Schmid, Yann Janssens, Lara Bettenhäuser-Hartung, Dirk Wiechmann
Head Face Med. 2024; 20: 57. Published online 2024 Oct 11. doi: 10.1186/s13005-024-00459-5
PMCID:
PMC11468468
AbstractArticlePDF–8.0M
3.
Case Report: MDFIC gene mutation resulting in central conducting lymphatic anomaly facilitates group A Streptococcus sepsis
Johannes Weidner, Kai Fiedler, Mechthild Schulze-Becking, Christiaan Peter Sentner, Christoph Korenke, Axel Heep
Front Pediatr. 2024; 12: 1367532. Published online 2024 Sep 25. doi: 10.3389/fped.2024.1367532
PMCID:
PMC11461237
AbstractArticlePDF–2.5M
4.
Robotic-assisted Lymphovenous Anastomosis of the Central Lymphatic System
Lisanne Grünherz, Andrea Weinzierl, Christian Alexander Gutschow, Gilbert Dominique Puippe, Ralph Gnannt, Donata von Reibnitz, Epameinondas Gousopoulos, Carlotta Barbon, Pietro Giovanoli, Claus Christian Pieper, Nicole Lindenblatt
Plast Reconstr Surg Glob Open. 2024 Sep; 12(9): e6164. Published online 2024 Sep 16. doi: 10.1097/GOX.0000000000006164
PMCID:
PMC11404956
AbstractArticlePDF–1.5M
5.
Atypical Site of Presentation of a Rare Type of SMARCA4-Positive Cutaneous Squamous Cell Carcinoma of the Skin: Case Report and Review of the Literature
Ruchi Yadav, Shaun Din, Harry Moussaris, Vivek Yadav, Shakthi Raman, Anjula Gandhi, Boris Avezbakiyev, J. C. Wang
J Investig Med High Impact Case Rep. 2024 Jan-Dec; 12: 23247096241271977. Published online 2024 Aug 31. doi: 10.1177/23247096241271977
PMCID:
PMC11366091
AbstractArticlePDF–1.4M
6.
Quality of occlusal outcome in adult Class II patients treated with completely customized lingual appliances and Class II elastics compared to adult Class I patients
Yann Janssens, Patrick F Foley, Frauke Beyling, Thomas Stamm, Rainer Schwestka-Polly, Jonas Q Schmid
Eur J Orthod. 2024 Oct; 46(5): cjae031. Published online 2024 Aug 29. doi: 10.1093/ejo/cjae031
PMCID:
PMC11358590
AbstractArticlePDF–1.0M
7.
Premature aging effects on COVID-19 pathogenesis: new insights from mouse models
Wu Haoyu, Liu Meiqin, Sun Jiaoyang, Hong Guangliang, Lin Haofeng, Chen Pan, Quan Xiongzhi, Wu Kaixin, Hu Mingli, Yang Xuejie, Ingo Lämmermann, Johannes Grillari, Shi Zhengli, Chen Jiekai, Wu Guangming
Sci Rep. 2024; 14: 19703. Published online 2024 Aug 24. doi: 10.1038/s41598-024-70612-2
Correction in:
Sci Rep. 2024; 14: 23411.
PMCID:
PMC11344828
AbstractArticlePDF–5.1M
8.
Pathogenic variants in PIK3CA are associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting lymphatic anomaly
Jeremy M. Grenier, Alexandra J. Borst, Sarah E. Sheppard, Kristen M. Snyder, Dong Li, Lea F. Surrey, Alyaa Al-Ibraheemi, David R. Weber, James R. Treat, Christopher L. Smith, Pablo Laje, Yoav Dori, Denise M. Adams, Michael Acord, Abhay S. Srinivasan
Pediatr Blood Cancer. Author manuscript; available in PMC 2024 Nov 17.
Published before final editing as: Pediatr Blood Cancer. 2023 May 17 : e30419. doi: 10.1002/pbc.30419 [Epub ahead of print]
PMCID:
PMC11340265
AbstractArticlePDF–781K
9.
Prenatal diagnosis and genetic study of 22q11.2 microduplication in Chinese fetuses: A series of 31 cases and literature review
Xiali Jiang, Bin Liang, Shuqiong He, Xiaoqing Wu, Wantong Zhao, Huili Xue, Yan Wang, Na Lin, Hailong Huang, Liangpu Xu
Mol Genet Genomic Med. 2024 Jul; 12(7): e2498. Published online 2024 Jul 19. doi: 10.1002/mgg3.2498
PMCID:
PMC11258554
AbstractArticlePDF–1.0M
10.
Trametinib restores the central conducting lymphatic flow in a premature infant with Noonan syndrome
Erika K. S. M. Leenders, Lotte E. R. Kleimeier, Lauren C. Weeke, Catelijne H. Coppens, Willemijn M. Klein, Jos M.T. Draaisma
Clin Case Rep. 2024 Jul; 12(7): e9164. Published online 2024 Jul 8. doi: 10.1002/ccr3.9164
PMCID:
PMC11231036
AbstractArticlePDF–577K
11.
Next-generation sequencing profiling of miRNAs in individuals with 22q11.2 deletion syndrome revealed altered expression of miR-185-5p
Anelisa Gollo Dantas, Beatriz Carvalho Nunes, Natália Nunes, Pedro Galante, Paula Fontes Asprino, Vanessa Kiyomi Ota, Maria Isabel Melaragno
Hum Genomics. 2024; 18: 64. Published online 2024 Jun 13. doi: 10.1186/s40246-024-00625-5
PMCID:
PMC11170780
AbstractArticlePDF–1.0M
12.
Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth
Tara L. Wenger, Sheila Ganti, Catherine Bull, Erika Lutsky, James T. Bennett, Kaitlyn Zenner, Dana M. Jensen, Victoria Dmyterko, Ezgi Mercan, Giri M. Shivaram, Seth D. Friedman, Michael Bindschadler, Madeleine Drusin, Jonathan N. Perkins, Ada Kong, Randall A. Bly, John P. Dahl, Juliana Bonilla-Velez, Jonathan A. Perkins
Genet Med. Author manuscript; available in PMC 2024 May 14.
Published in final edited form as: Genet Med. 2022 Nov; 24(11): 2318–2328. Published online 2022 Sep 6. doi: 10.1016/j.gim.2022.07.026
PMCID:
PMC11091962
AbstractArticlePDF–830K
13.
Quality of occlusal outcome in adult class II patients after maxillary total arch distalization with interradicular mini-screws
Yann Janssens, Patrick F. Foley, Frauke Beyling, Rainer Schwestka-Polly, Jonas Q. Schmid
Head Face Med. 2024; 20: 27. Published online 2024 Apr 26. doi: 10.1186/s13005-024-00425-1
PMCID:
PMC11046796
AbstractArticlePDF–1.8M
14.
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population
Hisao Yaoita, Eiichiro Kawai, Jun Takayama, Shinya Iwasawa, Naoya Saijo, Masayuki Abiko, Kouta Suzuki, Masato Kimura, Akira Ozawa, Gen Tamiya, Shigeo Kure, Atsuo Kikuchi
J Hum Genet. 2024; 69(5): 177–183. Published online 2024 Feb 13. doi: 10.1038/s10038-024-01223-y
Correction in:
J Hum Genet. 2024; 69(5): 185.
PMCID:
PMC11043042
AbstractArticlePDF–1.1M
15.
Central conducting lymphatic anomaly: from bench to bedside
Luciana Daniela Garlisi Torales, Benjamin A. Sempowski, Georgia L. Krikorian, Kristina M. Woodis, Scott M. Paulissen, Christopher L. Smith, Sarah E. Sheppard
J Clin Invest. 2024 Apr 15; 134(8): e172839. Published online 2024 Apr 15. doi: 10.1172/JCI172839
PMCID:
PMC11014661
AbstractArticlePDF–6.6M
16.
MRC1 and LYVE1 expressing macrophages in vascular beds of GNAQ p.R183Q driven capillary malformations in Sturge Weber syndrome
Sana Nasim, Colette Bichsel, Stephen Dayneka, Robert Mannix, Annegret Holm, Mathew Vivero, Sanda Alexandrescu, Anna Pinto, Arin K. Greene, Donald E. Ingber, Joyce Bischoff
Acta Neuropathol Commun. 2024; 12: 47. Published online 2024 Mar 26. doi: 10.1186/s40478-024-01757-4
PMCID:
PMC10964691
AbstractArticlePDF–12M
17.
Distinct Neurocognitive Profiles and Clinical Phenotypes Associated with Copy Number Variation at the 22q11.2 Locus
Kathleen P. O’Hora, Leila Kushan-Wells, Charles H. Schleifer, Shayne Cruz, Gil D. Hoftman, Maria Jalbrzikowski, Raquel E. Gur, Ruben C. Gur, Carrie E. Bearden
Autism Res. Author manuscript; available in PMC 2024 Dec 1.
Published in final edited form as: Autism Res. 2023 Dec; 16(12): 2247–2262. Published online 2023 Nov 23. doi: 10.1002/aur.3049
PMCID:
PMC10872774
AbstractArticlePDF–1.0M
18.
Striatal dopaminergic alterations in individuals with copy number variants at the 22q11.2 genetic locus and their implications for psychosis risk: a [18F]-DOPA PET study
Maria Rogdaki, Céline Devroye, Mariasole Ciampoli, Mattia Veronese, Abhishekh H. Ashok, Robert A. McCutcheon, Sameer Jauhar, Ilaria Bonoldi, Maria Gudbrandsen, Eileen Daly, Therese van Amelsvoort, Marianne Van Den Bree, Michael J. Owen, Federico Turkheimer, Francesco Papaleo, Oliver D. Howes
Mol Psychiatry. 2023; 28(5): 1995–2006. Published online 2021 May 12. doi: 10.1038/s41380-021-01108-y
Correction in:
Mol Psychiatry. 2021 Jun 22
PMCID:
PMC10575769
AbstractArticlePDF–1.6M
19.
Transcriptional linkage analysis with in vivo AAV-Perturb-seq
Antonio J. Santinha, Esther Klingler, Maria Kuhn, Rick Farouni, Sandra Lagler, Georgios Kalamakis, Ulrike Lischetti, Denis Jabaudon, Randall J. Platt
Nature. 2023; 622(7982): 367–375. Published online 2023 Sep 20. doi: 10.1038/s41586-023-06570-y
PMCID:
PMC10567566
AbstractArticlePDF–13M
20.
Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel–Trenaunay syndrome in an Asian population
Yuki Sasaki, Kosuke Ishikawa, Kanako C. Hatanaka, Yumiko Oyamada, Yusuke Sakuhara, Tadashi Shimizu, Tatsuro Saito, Naoki Murao, Tomohiro Onodera, Takahiro Miura, Taku Maeda, Emi Funayama, Yutaka Hatanaka, Yuhei Yamamoto, Satoru Sasaki
Orphanet J Rare Dis. 2023; 18: 270. Published online 2023 Sep 4. doi: 10.1186/s13023-023-02893-1
PMCID:
PMC10478188
AbstractArticlePDF–2.4M

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