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Select item 116285961.

Germline BRCA1/2 status and chemotherapy response score in high-grade serous ovarian cancer

Robert D. Morgan, Xin Wang, Bethany M. Barnes, Laura Spurgeon, Aurore Carrot, Daniel Netto, Jurjees Hasan, Claire Mitchell, Zena Salih, Sudha Desai, Joseph Shaw, Brett Winter-Roach, Helene Schlecht, George J. Burghel, Andrew R. Clamp, Richard J. Edmondson, Benoit You, D. Gareth R. Evans, Gordon C. Jayson, Stephen S. Taylor

Br J Cancer. 2024 Dec 28; 131(12): 1919–1927. Published online 2024 Nov 16. doi: 10.1038/s41416-024-02874-6

PMCID:: PMC11628596

Abstract Article PDF–668K

Select item 115472212.

Cranial bone microarchitecture in a mouse model for syndromic craniosynostosis

Sara Ajami, Zoe Van den Dam, Julia Hut, Dawn Savery, Milton Chin, Maarten Koudstaal, Miranda Steacy, Alessandra Carriero, Andrew Pitsillides, Y.‐M. Chang, Christoph Rau, Shashidhara Marathe, David Dunaway, Noor Ul Owase Jeelani, Silvia Schievano, Erwin Pauws, Alessandro Borghi

J Anat. 2024 Dec; 245(6): 864–873. Published online 2024 Aug 2. doi: 10.1111/joa.14121

PMCID:: PMC11547221

Abstract Article PDF–2.3M

Select item 115432503.

Chemotherapy response score no longer predicts survival outcomes in high-grade serous ovarian cancer patients with BRCA mutation and/or maintenance therapy

Young Joo Lee, Yoon Kyung Shin, Nae Ry Kim, Se Ik Kim, Yoo-Young Lee, Jeong-Yeol Park, Jae-Weon Kim, Hyun-Woong Cho, Jung-Yun Lee

J Gynecol Oncol. 2024 Nov; 35(6): e73. Published online 2024 Mar 18. doi: 10.3802/jgo.2024.35.e73

PMCID:: PMC11543250

Abstract Article PDF–2.6M

Select item 113625284.

Using the Infant Sibling-Design to Explore Associations Between Autism and ADHD Traits in Probands and Temperament in the Younger Siblings

Linn Andersson Konke, Terje Falck-Ytter, Emily J. H. Jones, Amy Goodwin, Karin Brocki

J Autism Dev Disord. 2024; 54(9): 3262–3273. Published online 2023 Jun 24. doi: 10.1007/s10803-023-06047-x

PMCID:: PMC11362528

Abstract Article PDF–693K

Select item 113464465.

Structural perspectives on chemokine receptors

Kanwal Kayastha, Yangli Zhou, Steffen Brünle

Biochem Soc Trans. 2024 Jun 26; 52(3): 1011–1024. Published online 2024 Jun 10. doi: 10.1042/BST20230358

PMCID:: PMC11346446

Abstract Article PDF–9.4M

Select item 112731216.

The Molecular Mechanism and Therapeutic Strategy of Cardiorenal Syndrome Type 3

Yong Liu, Xu Guan, Yuming Shao, Jie Zhou, Yinghui Huang

Rev Cardiovasc Med. 2023 Feb; 24(2): 52. Published online 2023 Feb 6. doi: 10.31083/j.rcm2402052

PMCID:: PMC11273121

Abstract Article PDF–1.9M

Select item 112579127.

Case report: An adolescent female with anosmic hypogonadotropic hypogonadism, intellectual disability, and papillary thyroid carcinoma: heterozygous deletion of TCF12

Nur Berna Celik, Abdullah Sezer, Nebiyye Genel, Senay Savas-Erdeve, İbrahim Karaman, Semra Cetinkaya

Front Endocrinol (Lausanne) 2024; 15: 1426916. Published online 2024 Jul 5. doi: 10.3389/fendo.2024.1426916

PMCID:: PMC11257912

Abstract Article PDF–889K

Select item 112198628.

A second hotspot for pathogenic exon-skipping variants in CDC45

Kelly Schoch, Mischa S. G. Ruegg, Bridget J. Fellows, Joseph Cao, Sabine Uhrig, Stephanie Einsele-Scholz, Saskia Biskup, Samuel R. A. Hawarden, Vincenzo Salpietro, Valeria Capra, Undiagnosed Diseases Network, Chris M. Brown, Andrea Accogli, Vandana Shashi, Louise S. Bicknell

Eur J Hum Genet. 2024 Jul; 32(7): 786–794. Published online 2024 Mar 11. doi: 10.1038/s41431-024-01583-1

PMCID:: PMC11219862

Abstract Article PDF–2.2M

Select item 110892179.

A comparison of visual attention to pictures in the Autism Diagnostic Observation Schedule in children and adolescents with ADHD and/or autism

Puja Kochhar, Iti Arora, Alessio Bellato, Danielle Ropar, Chris Hollis, Madeleine (Maddie) J. Groom

Front Psychiatry. 2024; 15: 1378593. Published online 2024 Apr 29. doi: 10.3389/fpsyt.2024.1378593

PMCID:: PMC11089217

Abstract Article PDF–556K

Select item 1084526210.

Dual-specificity phosphatase 1 interacts with prohibitin 2 to improve mitochondrial quality control against type-3 cardiorenal syndrome

Nanyang Liu, Yanqiu Ding, Hao Zhou, Xing Chang, Long Lou

Int J Med Sci. 2024; 21(3): 547–561. Published online 2024 Jan 19. doi: 10.7150/ijms.90484

PMCID:: PMC10845262

Abstract Article PDF–8.4M

Select item 1060297111.

Karina C. Silveira, Inara Chacon Fonseca, Connor Oborn, Parker Wengryn, Saima Ghafoor, Alexander Beke, Ema S. Dreseris, Cassandra Wong, Aline Iacovone, Carrie-Lynn Soltys, Riyana Babul-Hirji, Osvaldo Artigalas, Arthur Antolini-Tavares, Anne-Claude Gingras, Eric Campos, Denise P. Cavalcanti, Peter Kannu

Hum Genet. 2023; 142(11): 1571–1586. Published online 2023 Sep 27. doi: 10.1007/s00439-023-02598-2

PMCID:: PMC10602971

Abstract Article PDF–4.1M

Select item 1037071012.

Dog breeds and conformations in the UK in 2019: VetCompass canine demography and some consequent welfare implications

Dan G. O’Neill, Kirsten M. McMillan, David B. Church, Dave C. Brodbelt

PLoS One. 2023; 18(7): e0288081. Published online 2023 Jul 26. doi: 10.1371/journal.pone.0288081

PMCID:: PMC10370710

Abstract Article PDF–1.1M

Select item 1025039513.

Clinical interest of molecular study in cases of isolated midline craniosynostosis

Federico Di Rocco, Massimiliano Rossi, Isabelle Verlut, Alexandru Szathmari, Pierre Aurélien Beuriat, Nicolas Chatron, Julie Chauvel-Picard, Carmine Mottolese, Pauline Monin, Matthieu Vinchon, Sofia Guernouche, Corinne Collet

Eur J Hum Genet. 2023 Jun; 31(6): 621–628. Published online 2023 Feb 3. doi: 10.1038/s41431-023-01295-y

PMCID:: PMC10250395

Abstract Article PDF–767K

Select item 1004830414.

FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family

Ariane Schmetz, Jörg Schaper, Simon Thelen, Majeed Rana, Thomas Klenzner, Katharina Schaumann, Jasmin Beygo, Harald Surowy, Hermann-Josef Lüdecke, Dagmar Wieczorek

Genes (Basel) 2023 Mar; 14(3): 724. Published online 2023 Mar 15. doi: 10.3390/genes14030724

PMCID:: PMC10048304

Abstract Article PDF–8.5M

Select item 1004703315.

Sestrin2 Mediates Metformin Rescued the Age-Related Cardiac Dysfunctions of Cardiorenal Syndrome Type 3

Migdalia Iglesias, Hao Wang, Meredith Krause-Hauch, Di Ren, Linda Ines Zoungrana, Zehui Li, Jie Zhang, Jin Wei, Nikita Yadav, Kshama Patel, Mohammad Kasim Fatmi, Ruisheng Liu, Edward J. Lesnefsky, Ji Li

Cells. 2023 Mar; 12(6): 845. Published online 2023 Mar 8. doi: 10.3390/cells12060845

PMCID:: PMC10047033

Abstract Article PDF–4.9M

Select item 995752216.

Genotype–Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review

Eva-Cristiana Gavril, Irina Nucă, Monica-Cristina Pânzaru, Anca Viorica Ivanov, Cosmin-Teodor Mihai, Lucian-Mihai Antoci, Cristian-Gabriel Ciobanu, Cristina Rusu, Roxana Popescu

Genes (Basel) 2023 Feb; 14(2): 465. Published online 2023 Feb 11. doi: 10.3390/genes14020465

PMCID:: PMC9957522

Abstract Article PDF–2.1M

Select item 991948617.

Synchondrosis fusion contributes to the progression of postnatal craniofacial dysmorphology in syndromic craniosynostosis

Yukiko Hoshino, Masaki Takechi, Mehran Moazen, Miranda Steacy, Daisuke Koyabu, Toshiko Furutera, Youichirou Ninomiya, Takashi Nuri, Erwin Pauws, Sachiko Iseki

J Anat. 2023 Mar; 242(3): 387–401. Published online 2022 Nov 17. doi: 10.1111/joa.13790