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Items: 1 to 20 of 24

1.
Epigenetic remodeling to improve the efficacy of immunotherapy in human glioblastoma: pre-clinical evidence for development of new immunotherapy approaches
Maria Fortunata Lofiego, Francesca Piazzini, Francesca Pia Caruso, Francesco Marzani, Laura Solmonese, Emma Bello, Fabrizio Celesti, Maria Claudia Costa, Teresa Noviello, Roberta Mortarini, Andrea Anichini, Michele Ceccarelli, Sandra Coral, Anna Maria Di Giacomo, Michele Maio, Alessia Covre, The EPigenetic Immune-oncology Consortium Airc (EPICA) investigators
J Transl Med. 2024; 22: 223. Published online 2024 Mar 1. doi: 10.1186/s12967-024-05040-x
PMCID:
PMC10908027
ArticlePDF–2.9M
2.
Guadecitabine plus ipilimumab in unresectable melanoma: five-year follow-up and integrated multi-omic analysis in the phase 1b NIBIT-M4 trial
Teresa Maria Rosaria Noviello, Anna Maria Di Giacomo, Francesca Pia Caruso, Alessia Covre, Roberta Mortarini, Giovanni Scala, Maria Claudia Costa, Sandra Coral, Wolf H. Fridman, Catherine Sautès-Fridman, Silvia Brich, Giancarlo Pruneri, Elena Simonetti, Maria Fortunata Lofiego, Rossella Tufano, Davide Bedognetti, Andrea Anichini, Michele Maio, Michele Ceccarelli
Nat Commun. 2023; 14: 5914. Published online 2023 Sep 22. doi: 10.1038/s41467-023-40994-4
PMCID:
PMC10516894
ArticlePDF–2.5M
3.
Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome
G. Tutku Turgut, Ibrahim Halil Kalelioglu, Volkan Karaman, Tugba Sarac Sivrikoz, Birsen Karaman, Zehra Oya Uyguner, Tugba Kalayci
Mol Syndromol. 2023 Apr; 14(2): 152–157. Published online 2022 Dec 23. doi: 10.1159/000527955
PMCID:
PMC10091002
ArticlePDF–259K
4.
Landscape of immune-related signatures induced by targeting of different epigenetic regulators in melanoma: implications for immunotherapy
Andrea Anichini, Alessandra Molla, Gabriella Nicolini, Valentina Eleonora Perotti, Francesco Sgambelluri, Alessia Covre, Carolina Fazio, Maria Fortunata Lofiego, Anna Maria Di Giacomo, Sandra Coral, Antonella Manca, Maria Cristina Sini, Marina Pisano, Teresa Noviello, Francesca Caruso, Silvia Brich, Giancarlo Pruneri, Andrea Maurichi, Mario Santinami, Michele Ceccarelli, Giuseppe Palmieri, Michele Maio, Roberta Mortarini, On behalf of the EPigenetic Immune-oncology Consortium AIRC (EPICA) investigators
J Exp Clin Cancer Res. 2022; 41: 325. Published online 2022 Nov 17. doi: 10.1186/s13046-022-02529-5
PMCID:
PMC9670381
ArticlePDF–6.2M
5.
Novel missense COL2A1 variant in a fetus with achondrogenesis type II
Yukari Kobayashi, Yuki Ito, Kosuke Taniguchi, Kana Harada, Michihiro Yamamura, Taisuke Sato, Ken Takahashi, Hiroshi Kawame, Kenichiro Hata, Osamu Samura, Aikou Okamoto
Hum Genome Var. 2022; 9: 40. Published online 2022 Nov 15. doi: 10.1038/s41439-022-00218-5
PMCID:
PMC9663423
ArticlePDF–676K
6.
SARS-CoV-2 infection in cancer patients on active therapy after the booster dose of mRNA vaccines
Anna M. Di Giacomo, Gianluca Giacobini, Gabriele Anichini, Claudia Gandolfo, Vincenzo D'alonzo, Luana Calabrò, Maria F. Lofiego, Maria G. Cusi, Michele Maio
Eur J Cancer. 2022 Aug; 171: 143–149. Published online 2022 May 25. doi: 10.1016/j.ejca.2022.05.018
PMCID:
PMC9130712
ArticlePDF–1.0M
7.
Evaluation of the Efficacy of Mineralized Dentin Graft in the Treatment of Intraosseous Defects: An Experimental In Vivo Study
Nuray Özkahraman, Nilüfer Bölükbaşı Balcıoğlu, Merva Soluk Tekkesin, Yusuf Altundağ, Serdar Yalçın
Medicina (Kaunas) 2022 Jan; 58(1): 103. Published online 2022 Jan 10. doi: 10.3390/medicina58010103
PMCID:
PMC8777758
ArticlePDF–8.5M
8.
A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions
Valentina Bruni, Cristina Barbara Spoleti, Andrea La Barbera, Vincenzo Dattilo, Emma Colao, Carmela Votino, Emanuele Bellacchio, Nicola Perrotti, Sabrina Giglio, Rodolfo Iuliano
Genes (Basel) 2021 Sep; 12(9): 1395. Published online 2021 Sep 10. doi: 10.3390/genes12091395
PMCID:
PMC8467821
ArticlePDF–1.4M
9.
Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases
Wenbo Wang, Qichang Wu, Li Sun, Xiaohong Zhong, Yasong Xu, Xiaojian Xie, Zhiying Su
Case Rep Obstet Gynecol. 2019; 2019: 7981767. Published online 2019 Jul 17. doi: 10.1155/2019/7981767
PMCID:
PMC6662492
ArticlePDF–1.4M
10.
Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives
Amaka C. Offiah, Jerry Vockley, Craig F. Munns, Jun Murotsuki
Pediatr Radiol. 2019; 49(1): 3–22. Published online 2018 Oct 3. doi: 10.1007/s00247-018-4239-0
PMCID:
PMC6313373
ArticlePDF–16M
11.
Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population
Sara Mumtaz, Hafiza Fizzah Riaz, Mohammad Touseef, Sulman Basit, Muhammad Faiyaz Ul Haque, Sajid Malik
Pak J Med Sci. 2015 Nov-Dec; 31(6): 1542–1544. doi: 10.12669/pjms.316.8115
PMCID:
PMC4744317
ArticlePDF–859K
12.
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia
Katja Stange, Julie Désir, Naseebullah Kakar, Thomas D. Mueller, Birgit S. Budde, Christopher T. Gordon, Denise Horn, Petra Seemann, Guntram Borck
Orphanet J Rare Dis. 2015; 10: 84. Published online 2015 Jun 24. doi: 10.1186/s13023-015-0299-5
PMCID:
PMC4482310
ArticlePDF–1.8M
13.
Neonatal Death Dwarfism in a Girl with Distinctive Bone Dysplasia Compatible with Grebe Chondrodysplasia: Analysis by CT Scan-based Phenotype
Ali Al Kaissi, Farid Ben Chehida, Rudolf Ganger, Franz Grill
J Clin Imaging Sci. 2014; 4: 53. Published online 2014 Sep 29. doi: 10.4103/2156-7514.141939
PMCID:
PMC4204300
ArticlePDF–438K
14.
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe
Luitgard M Graul-Neumann, Alexandra Deichsel, Ulrike Wille, Naseebullah Kakar, Randi Koll, Christian Bassir, Jamil Ahmad, Valerie Cormier-Daire, Stefan Mundlos, Christian Kubisch, Guntram Borck, Eva Klopocki, Thomas D Mueller, Sandra C Doelken, Petra Seemann
Eur J Hum Genet. 2014 Jun; 22(6): 726–733. Published online 2013 Oct 16. doi: 10.1038/ejhg.2013.222
PMCID:
PMC4023204
ArticlePDF–2.2M
15.
Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report.
H. S. Lee, J. W. Doh, C. J. Kim, J. G. Chi
J Korean Med Sci. 2000 Oct; 15(5): 604–608. doi: 10.3346/jkms.2000.15.5.604
PMCID:
PMC3054684
SummaryPDF–505K
16.
An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.
G E Tiller, M A Weis, P A Polumbo, H E Gruber, D L Rimoin, D H Cohn, D R Eyre
Am J Hum Genet. 1995 Feb; 56(2): 388–395.
PMCID:
PMC1801144
ArticlePDF–1.9M
17.
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder
G. Mortier, M. Weis, L. Nuytinck, L. King, D. Wilkin, A. De Paepe, R. Lachman, D. Rimoin, D. Eyre, D. Cohn
J Med Genet. 2000 Apr; 37(4): 263–271. doi: 10.1136/jmg.37.4.263
Correction in:
J Med Genet. 2000 Oct; 37(10): 815.
PMCID:
PMC1734564
SummaryPDF–259K
18.
Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen.
M Godfrey, D W Hollister
Am J Hum Genet. 1988 Dec; 43(6): 904–913.
PMCID:
PMC1715608
ArticlePDF–2.2M
19.
Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies.
M Godfrey, D R Keene, E Blank, H Hori, L Y Sakai, L A Sherwin, D W Hollister
Am J Hum Genet. 1988 Dec; 43(6): 894–903.
PMCID:
PMC1715601
ArticlePDF–3.7M
20.
Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis.
D R Eyre, M P Upton, F D Shapiro, R H Wilkinson, G F Vawter
Am J Hum Genet. 1986 Jul; 39(1): 52–67.
PMCID:
PMC1684025
ArticlePDF–3.8M

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