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Items: 1 to 20 of 68

1.
A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype
Fatima AbuBakr, Lauren Jeffries, Weizhen Ji, James M. McGrath, Saquib A. Lakhani
Cold Spring Harb Mol Case Stud. 2020 Jun; 6(3): a005207. doi: 10.1101/mcs.a005207
PMCID:
PMC7304360
AbstractArticlePDF–2.2M
2.
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder
Silvia Morlino, Marco Castori, Chiara Dordoni, Valeria Cinquina, Graziano Santoro, Paola Grammatico, Marina Venturini, Marina Colombi, Marco Ritelli
Eur J Hum Genet. 2018 Apr; 26(4): 582–586. Published online 2018 Feb 21. doi: 10.1038/s41431-017-0079-x
PMCID:
PMC5891500
AbstractArticlePDF–815K
3.
Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome
Carine Le Goff, Curtis Rogers, Wilfried Le Goff, Graziella Pinto, Damien Bonnet, Maya Chrabieh, Olivier Alibeu, Patrick Nistchke, Arnold Munnich, Capucine Picard, Valérie Cormier-Daire
Am J Hum Genet. 2016 Aug 4; 99(2): 407–413. Published online 2016 Jul 14. doi: 10.1016/j.ajhg.2016.06.005
PMCID:
PMC4974068
AbstractArticlePDF–686K
4.
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations
Geeske M. van Woerden, Richelle Senden, Charlotte de Konink, Rossella A. Trezza, Anwar Baban, Jennifer A. Bassetti, Yolande van Bever, Lynne M. Bird, Bregje W. van Bon, Alice S. Brooks, Qiaoning Guan, Eric W. Klee, Carlo Marcelis, Joel M. Rosado, Lisa A. Schimmenti, Amy R. Shikany, Paulien A. Terhal, Kathryn Nicole Weaver, Marja W. Wessels, Hester van Wieringen, Anna C. Hurst, Catherine F. Gooch, Katharina Steindl, Pascal Joset, Anita Rauch, Marco Tartaglia, Marcello Niceta, Ype Elgersma, Serwet Demirdas
Hum Mutat. 2022 Oct; 43(10): 1377–1395. Published online 2022 Jul 29. doi: 10.1002/humu.24425
PMCID:
PMC9544731
AbstractArticlePDF–2.5M
5.
A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant
Hiromi Nyuzuki, Junichi Ozawa, Keisuke Nagasaki, Yosuke Nishio, Tomoo Ogi, Jun Tohyama, Takeshi Ikeuchi
Hum Genome Var. 2024; 11: 8. Published online 2024 Feb 22. doi: 10.1038/s41439-024-00265-0
PMCID:
PMC10881960
AbstractArticlePDF–896K
6.
Clinical data mining: challenges, opportunities, and recommendations for translational applications
Huimin Qiao, Yijing Chen, Changshun Qian, You Guo
J Transl Med. 2024; 22: 185. Published online 2024 Feb 20. doi: 10.1186/s12967-024-05005-0
PMCID:
PMC10880222
AbstractArticlePDF–1.2M
7.
Sour Cherry Pomace Valorization as a Bakery Fruit Filling: Chemical Composition, Bioactivity, Quality and Sensory Properties
Nemanja Teslić, Jovana Kojić, Branislava Đermanović, Ljubiša Šarić, Nikola Maravić, Mladenka Pestorić, Bojana Šarić
Antioxidants (Basel) 2023 Jun; 12(6): 1234. Published online 2023 Jun 7. doi: 10.3390/antiox12061234
PMCID:
PMC10294872
AbstractArticlePDF–1.0M
8.
A Path Model for Burnout in Community Mental Health Professionals
Jin-Joo Chang, Sung-Hee Shin
Int J Environ Res Public Health. 2021 Sep; 18(18): 9763. Published online 2021 Sep 16. doi: 10.3390/ijerph18189763
PMCID:
PMC8468818
AbstractArticlePDF–706K
9.
Systematic Study of Temperature and Different Types of Mixing in Paraffin Deposition Test Methods
Lilian Padula, Saugata Gon, Christopher Russell, Emily Pohl, Ian Littlehales, Andrew Neilson
ACS Omega. 2020 Jun 2; 5(21): 12320–12328. Published online 2020 May 19. doi: 10.1021/acsomega.0c01069
PMCID:
PMC7271385
AbstractArticlePDF–2.0M
10.
Toxicological Analysis of Low-Nicotine and Nicotine-Free Cigarettes
Jinguo Chen, Richard Higby, Defa Tian, Duanjun Tan, Michael D. Johnson, Yingxian Xiao, Kenneth J Kellar, Shibao Feng, Peter G. Shields
Toxicology. Author manuscript; available in PMC 2009 Jul 30.
Published in final edited form as: Toxicology. 2008 Jul 30; 249(2-3): 194–203. Published online 2008 May 24. doi: 10.1016/j.tox.2008.05.009
PMCID:
PMC2573966
AbstractArticlePDF–509K
11.
Epidemiological Risk Factors for Isolation of Ceftriaxone-Resistant versus -Susceptible Citrobacter freundii in Hospitalized Patients
Peter W. Kim, Anthony D. Harris, Mary-Claire Roghmann, J. Glenn Morris, Jr., Arjun Strinivasan, Eli N. Perencevich
Antimicrob Agents Chemother. 2003 Sep; 47(9): 2882–2887. doi: 10.1128/AAC.47.9.2882-2887.2003
PMCID:
PMC182594
AbstractArticlePDF–70K
12.
Aortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown–Rahman syndrome
Dovile Zebrauskiene, Egle Sadauskiene, Justas Dapkunas, Visvaldas Kairys, Joris Balciunas, Aleksandras Konovalovas, Ruta Masiuliene, Gunda Petraityte, Nomeda Valeviciene, Mindaugas Mataciunas, Jurate Barysiene, Violeta Mikstiene, Migle Tomkuviene, Egle Preiksaitiene
Clin Epigenetics. 2024; 16: 76. Published online 2024 Jun 6. doi: 10.1186/s13148-024-01686-y
PMCID:
PMC11157947
AbstractArticlePDF–5.2M
13.
Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA-Associated Cardiocutaneous Progeria Syndrome
Matheus V. M. B. Wilke, Myra Wick, Tanya L. Schwab, Rodrigo Tzovenos Starosta, Karl J. Clark, Heidi M. Connolly, Eric W. Klee
Genes (Basel) 2024 Jan; 15(1): 112. Published online 2024 Jan 18. doi: 10.3390/genes15010112
PMCID:
PMC10815864
AbstractArticlePDF–1.5M
14.
Hyperexcitability in the Olfactory Bulb and Impaired Fine Odor Discrimination in the Fmr1 KO Mouse Model of Fragile X Syndrome
Praveen Kuruppath, Lin Xue, Frederic Pouille, Shelly T. Jones, Nathan E. Schoppa
J Neurosci. 2023 Nov 29; 43(48): 8243–8258. doi: 10.1523/JNEUROSCI.0584-23.2023
PMCID:
PMC10697393
AbstractArticlePDF–3.0M
15.
Severe neonatal Marfan syndrome with a novel mutation in the intron of the FBN1 gene: A case report
Su Hyun Yoon, Younghwa Kong
Medicine (Baltimore) 2021 Feb 12; 100(6): e24301. Published online 2021 Feb 12. doi: 10.1097/MD.0000000000024301
PMCID:
PMC10545169
AbstractArticlePDF–639K
16.
Helsmoortel–Van der Aa Syndrome—Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies
Tímea Margit Szabó, István Balogh, Anikó Ujfalusi, Zsuzsanna Szűcs, László Madar, Katalin Koczok, Beáta Bessenyei, Ildikó Csürke, Katalin Szakszon
Genes (Basel) 2022 Dec; 13(12): 2367. Published online 2022 Dec 15. doi: 10.3390/genes13122367
PMCID:
PMC9778517
AbstractArticlePDF–705K
17.
Genome‐wide DNA methylation profiling confirms a case of low‐level mosaic Kabuki syndrome 1
Carolina Montano, Jacquelyn F. Britton, Jacqueline R. Harris, Jennifer Kerkhof, Benjamin T. Barnes, Jennifer A. Lee, Bekim Sadikovic, Nara Sobreira, Jill A. Fahrner
Am J Med Genet A. 2022 Jul; 188(7): 2217–2225. Published online 2022 Apr 6. doi: 10.1002/ajmg.a.62754
PMCID:
PMC9321966
AbstractArticlePDF–20M
18.
Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa)
Gerrye Mubungu, Prince Makay, Bouchra Boujemla, Stephane Yanda, Jennifer E. Posey, James R. Lupski, Vincent Bours, Prosper Lukusa, Koenraad Devriendt, Aimé Lumaka
Am J Med Genet A. Author manuscript; available in PMC 2022 Jun 27.
Published in final edited form as: Am J Med Genet A. 2021 Mar; 185(3): 990–994. Published online 2020 Dec 29. doi: 10.1002/ajmg.a.62049
PMCID:
PMC9235023
AbstractArticlePDF–606K
19.
From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature
Luisa Cortellazzo Wiel, Irene Bruno, Egidio Barbi, Fabio Sirchia
Ital J Pediatr. 2022; 48: 72. Published online 2022 May 12. doi: 10.1186/s13052-022-01267-w
PMCID:
PMC9097050
AbstractArticlePDF–766K
20.
Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype
Till Joscha Demal, Tasja Scholz, Helke Schüler, Jakob Olfe, Anja Fröhlich, Fabian Speth, Yskert von Kodolitsch, Thomas S. Mir, Hermann Reichenspurner, Christian Kubisch, Maja Hempel, Georg Rosenberger
Sci Rep. 2022; 12: 4489. Published online 2022 Mar 16. doi: 10.1038/s41598-022-08476-7
PMCID:
PMC8927422
AbstractArticlePDF–2.9M

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