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Items: 1 to 20 of 500

1.
Solitary Median Maxillary Central Incisor in Hartsfield Syndrome: A Case Report
Patricia MP Reis, Jorge Faber, Jéssica SO Rosa, Mike Bueno, Maurício Barriviera, Érica N Lia
Int J Clin Pediatr Dent. 2023 Jan-Feb; 16(1): 147–152. doi: 10.5005/jp-journals-10005-2498
PMCID:
PMC10067985
AbstractArticlePDF–48M
2.
Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of FGFR1
Sachiko Kobayashi, Junpei Tanigawa, Hidehito Kondo, Shin Nabatame, Azusa Maruoka, Hiroyuki Sho, Kazuko Tanikawa, Ryoko Inui, Michio Otsuki, Iichiro Shimomura, Keiichi Ozono, Kunihiko Hashimoto
J Endocr Soc. 2020 May 1; 4(5): bvaa041. Published online 2020 Apr 2. doi: 10.1210/jendso/bvaa041
PMCID:
PMC7192098
AbstractArticlePDF–312K
3.
A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway
Pietro Palumbo, Antonio Petracca, Roberto Maggi, Tommaso Biagini, Grazia Nardella, Michele Carmine Sacco, Elia Di Schiavi, Massimo Carella, Lucia Micale, Marco Castori
Eur J Hum Genet. 2019 Jul; 27(7): 1113–1120. Published online 2019 Feb 20. doi: 10.1038/s41431-019-0350-4
PMCID:
PMC6777633
AbstractArticlePDF–1.1M
4.
Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome
Masaki Takagi, Tatsuya Miyoshi, Yuka Nagashima, Nao Shibata, Hiroko Yagi, Ryuji Fukuzawa, Tomonobu Hasegawa
Hum Genome Var. 2016; 3: 16034. Published online 2016 Oct 13. doi: 10.1038/hgv.2016.34
PMCID:
PMC5061861
AbstractArticlePDF–880K
5.
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly
Nicolas Simonis, Isabelle Migeotte, Nelle Lambert, Camille Perazzolo, Deepthi C de Silva, Boyan Dimitrov, Claudine Heinrichs, Sandra Janssens, Bronwyn Kerr, Geert Mortier, Guy Van Vliet, Philippe Lepage, Georges Casimir, Marc Abramowicz, Guillaume Smits, Catheline Vilain
J Med Genet. 2013 Sep; 50(9): 585–592. Published online 2013 Jun 28. doi: 10.1136/jmedgenet-2013-101603
PMCID:
PMC3756455
AbstractArticlePDF–2.0M
6.
The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1
L.A. Lansdon, H.V. Bernabe, N. Nidey, J. Standley, M.J. Schnieders, J.C. Murray
J Dent Res. 2017 Oct; 96(11): 1339–1345. Published online 2017 Aug 21. doi: 10.1177/0022034517726496
PMCID:
PMC5613887
AbstractArticlePDF–670K
7.
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome
Sungkook Hong, Ping Hu, Juliana Marino, Sophia B. Hufnagel, Robert J. Hopkin, Alma Toromanović, Antonio Richieri-Costa, Lucilene A. Ribeiro-Bicudo, Paul Kruszka, Erich Roessler, Maximilian Muenke
Hum Mol Genet. 2016 May 15; 25(10): 1912–1922. Published online 2016 Feb 29. doi: 10.1093/hmg/ddw064
PMCID:
PMC5062582
AbstractArticlePDF–804K
8.
Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene
Anna Sowińska-Seidler, Monika Piwecka, Ewelina Olech, Magdalena Socha, Anna Latos-Bieleńska, Aleksander Jamsheer
J Appl Genet. 2015; 56(2): 177–184. Published online 2014 Oct 23. doi: 10.1007/s13353-014-0252-7
PMCID:
PMC4412513
AbstractArticlePDF–910K
9.
Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision
Gloria Zaffaroni, Alessandro Mannucci, Laura Koskenvuo, Borja de Lacy, Anna Maffioli, Tanya Bisseling, Elizabeth Half, Giulia Martina Cavestro, Laura Valle, Neil Ryan, Stefan Aretz, Karen Brown, Francesco Buttitta, Fatima Carneiro, Oonagh Claber, Ruth Blanco-Colino, Maxime Collard, Emma Crosbie, Miguel Cunha, Triantafyllos Doulias, Christina Fleming, Henriette Heinrich, Robert Hüneburg, Julie Metras, Iris Nagtegaal, Ionut Negoi, Maartje Nielsen, Gianluca Pellino, Luigi Ricciardiello, Abdurrahman Sagir, Luis Sánchez-Guillén, Toni T Seppälä, Peter Siersema, Benedikt Striebeck, Julian R Sampson, Andrew Latchford, Yann Parc, John Burn, Gabriela Möslein
Br J Surg. 2024 May; 111(5): znae070. Published online 2024 May 9. doi: 10.1093/bjs/znae070
PMCID:
PMC11081080
AbstractArticlePDF–1.0M
10.
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer
Trudi McDevitt, Miranda Durkie, Norbert Arnold, George J. Burghel, Samantha Butler, Kathleen B. M. Claes, Peter Logan, Rachel Robinson, Katie Sheils, Nicola Wolstenholme, Helen Hanson, Clare Turnbull, Stacey Hume
Eur J Hum Genet. 2024 May; 32(5): 479–488. Published online 2024 Mar 5. doi: 10.1038/s41431-023-01507-5
Correction in:
Eur J Hum Genet. 2024 Aug 2
PMCID:
PMC11061103
AbstractArticlePDF–728K
11.
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases
Job A.J. Verdonschot, Debby M.E.I. Hellebrekers, Vanessa P.M. van Empel, Malou Heijligers, Sonja de Munnik, Edith Coonen, Jos C.M.F. Dreesen, Arthur van den Wijngaard, Han G. Brunner, Masoud Zamani Esteki, Stephane R.B. Heymans, Christine E.M. de Die-Smulders, Aimée D.C. Paulussen
Circ Genom Precis Med. 2024 Apr; 17(2): e004416. Published online 2024 Mar 22. doi: 10.1161/CIRCGEN.123.004416
PMCID:
PMC11019983
AbstractArticlePDF–1.4M
12.
Brucella NpeA is a secreted Type IV effector containing an N-WASP-binding short linear motif that promotes niche formation
Agostina Giménez, Mariela G. Del Giudice, Paula V. López, Francisco Guaimas, Hugo Sámano-Sánchez, Toby J. Gibson, Lucía B. Chemes, Carlos O. Arregui, Juan E. Ugalde, Cecilia Czibener
mBio. 2024 Jul; 15(7): e00726-24. Published online 2024 Jun 7. doi: 10.1128/mbio.00726-24
PMCID:
PMC11253601
AbstractArticlePDF–3.8M
13.
Identification and transcriptomic assessment of latent profile pediatric septic shock phenotypes
Mihir R. Atreya, Min Huang, Andrew R. Moore, Hong Zheng, Yehudit Hasin-Brumshtein, Julie C. Fitzgerald, Scott L. Weiss, Natalie Z. Cvijanovich, Michael T. Bigham, Parag N. Jain, Adam J. Schwarz, Riad Lutfi, Jeffrey Nowak, Neal J. Thomas, Michael Quasney, Mary K. Dahmer, Torrey Baines, Bereketeab Haileselassie, Andrew J. Lautz, Natalja L. Stanski, Stephen W. Standage, Jennifer M. Kaplan, Basilia Zingarelli, Rashmi Sahay, Bin Zhang, Timothy E. Sweeney, Purvesh Khatri, L. Nelson Sanchez-Pinto, Rishikesan Kamaleswaran
Crit Care. 2024; 28: 246. Published online 2024 Jul 17. doi: 10.1186/s13054-024-05020-z
PMCID:
PMC11253460
AbstractArticlePDF–1.8M
14.
The association between sleep quality and accelerated epigenetic aging with metabolic syndrome in Korean adults
Ho-Sun Lee, Boram Kim, Taesung Park
Clin Epigenetics. 2024; 16: 92. Published online 2024 Jul 16. doi: 10.1186/s13148-024-01706-x
PMCID:
PMC11253334
AbstractArticlePDF–1.0M
15.
A Study on Associations of Long Noncoding RNA HOTAIR Polymorphisms With Genetic Susceptibility to Chronic Kidney Disease
Mahdi Majidpour, Ramin Saravani, Saman Sargazi, Sara Sargazi, Mahdiyeh Harati‐Sadegh, Shadi Khorrami, Mohammad Sarhadi, Ali Alidadi
J Clin Lab Anal. 2024 Jun; 38(11-12): e25086. Published online 2024 Jul 3. doi: 10.1002/jcla.25086
PMCID:
PMC11252834
AbstractArticlePDF–795K
16.
Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome
Maria Rodrigo Riestra, Bethany A. Pillay, Mathijs Willemsen, Verena Kienapfel, Lisa Ehlers, Selket Delafontaine, Antoine Pinton, Marjon Wouters, Anneleen Hombrouck, Kate Sauer, Xavier Bossuyt, Arnout Voet, Stefaan J. Soenen, Cecilia Dominguez Conde, Giorgia Bucciol, Kaan Boztug, Stephanie Humblet-Baron, Aurore Touzart, Frédéric Rieux-Laucat, Luigi D. Notarangelo, Leen Moens, Isabelle Meyts
J Clin Immunol. Author manuscript; available in PMC 2024 Jul 17.
Published in final edited form as: J Clin Immunol. 2023 Dec 15; 44(1): 2. Published online 2023 Dec 15. doi: 10.1007/s10875-023-01627-z
PMCID:
PMC11252662
AbstractArticlePDF–1.8M
17.
Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency
Aaqib Zaffar Banday, Rahila Nisar, Pratap Kumar Patra, Anit Kaur, Rohit Sadanand, Chakshu Chaudhry, Syed Tariq Ahmed Bukhari, Saquib Zaffar Banday, Dharmagat Bhattarai, Luigi D. Notarangelo
J Clin Immunol. Author manuscript; available in PMC 2024 Jul 17.
Published in final edited form as: J Clin Immunol. 2023 Dec 22; 44(1): 17. Published online 2023 Dec 22. doi: 10.1007/s10875-023-01633-1
PMCID:
PMC11252661
AbstractArticlePDF–1.0M
18.
Riding the storm: managing cytokine-related toxicities in CAR-T cell therapy
Andrew D. Hughes, David T. Teachey, Caroline Diorio
Semin Immunopathol. 2024; 46(3-4): 5. Published online 2024 Jul 16. doi: 10.1007/s00281-024-01013-w
PMCID:
PMC11252192
AbstractArticlePDF–1.5M
19.
Bacterial persisters: molecular mechanisms and therapeutic development
Hongxia Niu, Jiaying Gu, Ying Zhang
Signal Transduct Target Ther. 2024; 9: 174. Published online 2024 Jul 17. doi: 10.1038/s41392-024-01866-5
PMCID:
PMC11252167
AbstractArticlePDF–4.2M
20.
Transcriptomic analysis of bone marrow specimens collected from Miniature Dachshunds diagnosed with non-neoplastic bone marrow disorders
Akiyoshi TANI, Kota NAKASE, Hirotaka TOMIYASU, Sakurako NEO, Aki OHMI, Yuko GOTO-KOSHINO, Koichi OHNO, Hajime TSUJIMOTO
J Vet Med Sci. 2024 Jul; 86(7): 737–743. Published online 2024 Jun 3. doi: 10.1292/jvms.23-0371
PMCID:
PMC11251810
AbstractArticlePDF–1.0M

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