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Items: 1 to 20 of 276

1.
A New Case of Translocation T(2;7)(p23;q35) in Recurrent Pregnancy Loss
Abdulbaki Yildirim, Duygu Taskin, Rumeysa Atasay, Munis Dundar
Clin Med Res. 2023 Mar; 21(1): 53–55. doi: 10.3121/cmr.2023.1766
PMCID:
PMC10153683
ArticlePubReaderPDF–395KCite
2.
Molecular characterisation defines clinically-actionable heterogeneity within Group 4 medulloblastoma and improves disease risk-stratification
Jack Goddard, Jemma Castle, Emily Southworth, Anya Fletcher, Stephen Crosier, Idoia Martin-Guerrero, Miguel García-Ariza, Aurora Navajas, Julien Masliah-Planchon, Franck Bourdeaut, Christelle Dufour, Olivier Ayrault, Tobias Goschzik, Torsten Pietsch, Martin Sill, Stefan M. Pfister, Stefan Rutkowski, Stacey Richardson, Rebecca M. Hill, Daniel Williamson, Simon Bailey, Edward C. Schwalbe, Steven C. Clifford, Debbie Hicks
Acta Neuropathol. 2023; 145(5): 651–666. Published online 2023 Apr 4. doi: 10.1007/s00401-023-02566-0
PMCID:
PMC10119222
ArticlePubReaderPDF–3.3MCite
3.
The genomic landscape across 474 surgically accessible epileptogenic human brain lesions
Javier A López-Rivera, Costin Leu, Marie Macnee, Jean Khoury, Lucas Hoffmann, Roland Coras, Katja Kobow, Nisha Bhattarai, Eduardo Pérez-Palma, Hajo Hamer, Sebastian Brandner, Karl Rössler, Christian G Bien, Thilo Kalbhenn, Tom Pieper, Till Hartlieb, Elizabeth Butler, Giulio Genovese, Kerstin Becker, Janine Altmüller, Lisa-Marie Niestroj, Lisa Ferguson, Robyn M Busch, Peter Nürnberg, Imad Najm, Ingmar Blümcke, Dennis Lal
Brain. 2023 Apr; 146(4): 1342–1356. Published online 2022 Oct 13. doi: 10.1093/brain/awac376
PMCID:
PMC10115236
ArticlePubReaderPDF–1.4MCite
4.
Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome
Christopher Thomas Cummings, Lois Janelle Starr
Am J Med Genet A. 2023 Feb; 191(2): 332–337. Published online 2022 Oct 29. doi: 10.1002/ajmg.a.63021
PMCID:
PMC10091947
ArticlePubReaderPDF–6.4MCite
5.
GPNMB confers risk for Parkinson’s disease through interaction with alpha-synuclein
Maria E. Diaz-Ortiz, Yunji Seo, Marijan Posavi, Marc Carceles Cordon, Elisia Clark, Nimansha Jain, Rakshita Charan, Michael D. Gallagher, Travis L. Unger, Noor Amari, R. Tyler Skrinak, Roseanne Davila-Rivera, Eliza M. Brody, Noah Han, Rebecca Zack, Vivianna M. Van Deerlin, Thomas F. Tropea, Kelvin C. Luk, Edward B. Lee, Daniel Weintraub, Alice S. Chen-Plotkin
Science. Author manuscript; available in PMC 2023 Feb 19.
Published in final edited form as: Science. 2022 Aug 19; 377(6608): eabk0637. Published online 2022 Aug 19. doi: 10.1126/science.abk0637
PMCID:
PMC9870036
ArticlePubReaderPDF–2.1MCite
6.
Executive functioning in adolescents and adults with Silver-Russell syndrome
Mélissa Burgevin, Agnès Lacroix, Fanny Ollivier, Karine Bourdet, Régis Coutant, Bruno Donadille, Laurence Faivre, Sylvie Manouvrier-Hanu, Florence Petit, Christel Thauvin-Robinet, Annick Toutain, Irène Netchine, Sylvie Odent
PLoS One. 2023; 18(1): e0279745. Published online 2023 Jan 20. doi: 10.1371/journal.pone.0279745
PMCID:
PMC9858375
ArticlePubReaderPDF–617KCite
7.
Imaging features of localized IDH wild-type histologically diffuse astrocytomas: a single-institution case series
Yuji Kibe, Kazuya Motomura, Fumiharu Ohka, Kosuke Aoki, Hiroyuki Shimizu, Junya Yamaguchi, Tomohide Nishikawa, Ryuta Saito
Sci Rep. 2023; 13: 23. Published online 2023 Jan 16. doi: 10.1038/s41598-022-25928-2
PMCID:
PMC9842655
ArticlePubReaderPDF–2.2MCite
8.
MEOX2 homeobox gene promotes growth of malignant gliomas
Anna Schönrock, Elisa Heinzelmann, Bianca Steffl, Engin Demirdizen, Ashwin Narayanan, Damir Krunic, Marion Bähr, Jong-Whi Park, Claudia Schmidt, Koray Özduman, M Necmettin Pamir, Wolfgang Wick, Felix Bestvater, Dieter Weichenhan, Christoph Plass, Julian Taranda, Moritz Mall, Şevin Turcan
Neuro Oncol. 2022 Nov; 24(11): 1911–1924. Published online 2022 Apr 25. doi: 10.1093/neuonc/noac110
PMCID:
PMC9629421
ArticlePubReaderPDF–4.0MCite
9.
Molecular landscape of IDH‐wild type, pTERT‐wild type adult glioblastomas
Emma Munan Liu, Zhi‐Feng Shi, Kay Ka‐Wai Li, Tathiane M. Malta, Nellie Yuk‐Fei Chung, Hong Chen, Janice Yuen‐Tung Chan, Manix Fung‐Man Poon, Johnny Sheung‐Him Kwan, Danny Tat‐Ming Chan, Houtan Noushmehr, Ying Mao, Ho‐Keung Ng
Brain Pathol. 2022 Nov; 32(6): e13107. Published online 2022 Jul 11. doi: 10.1111/bpa.13107
PMCID:
PMC9616088
ArticlePubReaderPDF–4.9MCite
10.
Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age
Giuseppa Patti, Federica Malerba, Maria Grazia Calevo, Maurizio Schiavone, Marco Scaglione, Emilio Casalini, Silvia Russo, Daniela Fava, Marta Bassi, Flavia Napoli, Anna Elsa Maria Allegri, Giuseppe D’Annunzio, Roberto Gastaldi, Mohamad Maghnie, Natascia Di Iorgi
Front Endocrinol (Lausanne) 2022; 13: 975511. Published online 2022 Aug 24. doi: 10.3389/fendo.2022.975511
Correction in:
Front Endocrinol (Lausanne). 2023; 14: 1172736.
PMCID:
PMC9451521
ArticlePubReaderPDF–439KCite
11.
Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome
Jenifer P. Suntharalingham, Miho Ishida, Ignacio Del Valle, Susanne E. Stalman, Nita Solanky, Emma Wakeling, Gudrun E. Moore, John C. Achermann, Federica Buonocore
Front Endocrinol (Lausanne) 2022; 13: 953707. Published online 2022 Aug 18. doi: 10.3389/fendo.2022.953707
PMCID:
PMC9433874
ArticlePubReaderPDF–4.2MCite
12.
Temozolomide and radiotherapy versus radiotherapy alone in patients with glioblastoma, IDH-wildtype: post-hoc analysis of the EORTC randomized phase 3 CATNON trial
C. Mircea S. Tesileanu, Marc Sanson, Wolfgang Wick, Alba A. Brandes, Paul M. Clement, Sara C. Erridge, Michael A. Vogelbaum, Anna K. Nowak, Jean-Francois Baurain, Warren P. Mason, Helen Wheeler, Olivier L. Chinot, Sanjeev Gill, Matthew Griffin, Leland Rogers, Walter Taal, Roberta Rudà, Michael Weller, Catherine McBain, Myra E. van Linde, Kenneth Aldape, Robert B. Jenkins, Johan M. Kros, Pieter Wesseling, Andreas von Deimling, Youri Hoogstrate, Iris de Heer, Peggy N. Atmodimedjo, Hendrikus J. Dubbink, Rutger W.W. Brouwer, Wilfred F.J. van IJcken, Kin Jip Cheung, Vassilis Golfinopoulos, Brigitta G. Baumert, Thierry Gorlia, Pim J. French, Martin J. van den Bent
Clin Cancer Res. Author manuscript; available in PMC 2022 Jul 20.
Published in final edited form as: Clin Cancer Res. 2022 Jun 13; 28(12): 2527–2535. doi: 10.1158/1078-0432.CCR-21-4283
PMCID:
PMC9297529
ArticlePubReaderPDF–938KCite
13.
Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a NHEJ1-Deficient Long-term Survivor
Fiona Poyer, Raúl Jimenez Heredia, Wolfgang Novak, Petra Zeitlhofer, Karin Nebral, Michael N. Dworzak, Oskar A. Haas, Kaan Boztug, Leo Kager
Front Immunol. 2022; 13: 869047. Published online 2022 Jun 24. doi: 10.3389/fimmu.2022.869047
PMCID:
PMC9263211
ArticlePubReaderPDF–1.9MCite
14.
CRISPR screening in human hematopoietic stem and progenitor cells reveals an enrichment for tumor suppressor genes within chromosome 7 commonly deleted regions
Jeremy T. Baeten, Weihan Liu, Isabelle C. Preddy, Ningxuan Zhou, Megan E. McNerney
Leukemia. Author manuscript; available in PMC 2022 Nov 1.
Published in final edited form as: Leukemia. 2022 May; 36(5): 1421–1425. Published online 2022 Jan 17. doi: 10.1038/s41375-021-01491-z
PMCID:
PMC9064908
ArticlePubReaderPDF–1.0MCite
15.
Droplet digital PCR-based analyses for robust, rapid, and sensitive molecular diagnostics of gliomas
Marietta Wolter, Jörg Felsberg, Bastian Malzkorn, Kerstin Kaulich, Guido Reifenberger
Acta Neuropathol Commun. 2022; 10: 42. Published online 2022 Mar 31. doi: 10.1186/s40478-022-01335-6
PMCID:
PMC8973808
ArticlePubReaderPDF–4.5MCite
16.
The Significance of CUX1 and Chromosome 7 in Myeloid Malignancies
Matthew RM Jotte, Megan E McNerney
Curr Opin Hematol. Author manuscript; available in PMC 2023 Mar 1.
Published in final edited form as: Curr Opin Hematol. 2022 Mar 1; 29(2): 92–102. doi: 10.1097/MOH.0000000000000699
PMCID:
PMC8795693
ArticlePubReaderPDF–731KCite
17.
Mining massive genomic data of two Swiss Braunvieh cattle populations reveals six novel candidate variants that impair reproductive success
Irene M. Häfliger, Franz R. Seefried, Mirjam Spengeler, Cord Drögemüller
Genet Sel Evol. 2021; 53: 95. Published online 2021 Dec 16. doi: 10.1186/s12711-021-00686-3
PMCID:
PMC8675516
ArticlePubReaderPDF–1.8MCite
18.
Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants
Aurélie Pham, Marie-Laure Sobrier, Eloïse Giabicani, Marilyne Le Jules Fernandes, Delphine Mitanchez, Fréderic Brioude, Irène Netchine
Eur J Hum Genet. 2021 Dec; 29(12): 1756–1761. Published online 2021 Jul 19. doi: 10.1038/s41431-021-00927-5
PMCID:
PMC8633068
ArticlePubReaderPDF–886KCite
19.
Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review
Kinga Kozma, Marius Bembea, Claudia M. Jurca, Mihai Ioana, Ioana Streață, Simona Ş. Şoşoi, Andrei Pirvu, Codruța D. Petchesi, Ariana Szilágyi, Cristian N. Sava, Alexandru Jurca, Anikó Ujfalusi, Zsuzsanna Szűcs, Katalin Szakszon
Genes (Basel) 2021 Nov; 12(11): 1674. Published online 2021 Oct 23. doi: 10.3390/genes12111674
PMCID:
PMC8623992
ArticlePubReaderPDF–501KCite
20.
Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes
Afiya Andrews, Avinaash Maharaj, Emily Cottrell, Sumana Chatterjee, Pratik Shah, Louise Denvir, Katja Dumic, Artur Bossowski, Talat Mushtaq, Rade Vukovic, Mohamed Didi, Nick Shaw, Louise A Metherell, Martin O Savage, Helen L Storr
J Clin Endocrinol Metab. 2021 Nov; 106(11): e4716–e4733. Published online 2021 Jun 16. doi: 10.1210/clinem/dgab437
PMCID:
PMC8530715
ArticlePubReaderCite

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