PMC Articles for MedGen (Select 1254) - PMC

Marisa Garcia Rodrigues, José Daniel Rodrigues, Matilde Monteiro Soares, Luís Filipe Azevedo, Pedro Pereira Rodrigues, José Carlos Areias, Maria Emília Areias

Qual Life Res. 2023; 32(11): 3027–3037. Published online 2023 Jun 17. doi: 10.1007/s11136-023-03452-8

PMCID:: PMC10522751

Article PDF–592K

Select item 105084484.

Dislocated Extensor Mechanism in a Child With Bilateral Absent Patella Without Other Congenital Abnormalities

Austin Yu, Marina Russo, Deepika Kothakapa, Patrick Huang, Abigail Mantica

J Am Acad Orthop Surg Glob Res Rev. 2023 Sep; 7(9): e23.00117. Published online 2023 Sep 15. doi: 10.5435/JAAOSGlobal-D-23-00117

PMCID:: PMC10508448

Article PDF–403K

Select item 104499495.

Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia

Guido Zagnoli-Vieira, Jan Brazina, Kris Van Den Bogaert, Wim Huybrechts, Guy Molenaers, Keith W. Caldecott, Hilde Van Esch

Hum Genet. 2023; 142(9): 1417–1427. Published online 2023 Aug 10. doi: 10.1007/s00439-023-02589-3

PMCID:: PMC10449949

Article PDF–2.7M

Select item 100695516.

Impact of maternal hepatitis B carrier status on congenital abnormalities: a systematic review and meta-analysis

Shiyao Huang, Jing Wang, Yiquan Xiong, Chunrong Liu, Yana Qi, Kang Zou, Jing Tan, Xin Sun

BMJ Open. 2023; 13(3): e066017. Published online 2023 Mar 28. doi: 10.1136/bmjopen-2022-066017

PMCID:: PMC10069551

Article PDF–1.3M

Select item 100623107.

Congenital abnormalities of heart and kidney

Hiroya Takafuji, Nahoko Kato, Yuta Azumi, Kotaro Obunai

Clin Case Rep. 2023 Apr; 11(4): e7158. Published online 2023 Mar 30. doi: 10.1002/ccr3.7158

PMCID:: PMC10062310

Article PDF–938K

Select item 96755568.

DIO3 protects against thyrotoxicosis-derived cranio-encephalic and cardiac congenital abnormalities

M. Elena Martinez, Ilka Pinz, Marilena Preda, Christine R. Norton, Thomas Gridley, Arturo Hernandez

JCI Insight. 2022 Nov 8; 7(21): e161214. Published online 2022 Nov 8. doi: 10.1172/jci.insight.161214

PMCID:: PMC9675556

Article PDF–3.9M

Select item 96128669.

Infantile or hypoplastic uterus? A proposal for a modification to the ESHRE/ESGE classification of female genital tract congenital abnormalities

T Küçük, B Ata

Facts Views Vis Obgyn. 2022 Mar; 14(1): 49–50. Published online 2022 Apr 3. doi: 10.52054/FVVO.14.1.004

PMCID:: PMC9612866

Article PDF–990K

Select item 935051310.

The lived experiences of mothers who have children with congenital abnormalities in the Gert Sibande district

Thandeka B. Mazibuko, Tendani Ramukumba, Nomusa Ngwenya

Curationis. 2022; 45(1): 2250. Published online 2022 Jul 26. doi: 10.4102/curationis.v45i1.2250

PMCID:: PMC9350513

Article PDF–505K

Select item 934920511.

Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

Nicolas Bourgon, Aurore Garde, Ange-Line Bruel, Mathilde Lefebvre, Frederic Tran Mau-Them, Sebastien Moutton, Arthur Sorlin, Sophie Nambot, Julian Delanne, Martin Chevarin, Charlotte Pöe, Julien Thevenon, Daphné Lehalle, Nolween Jean-Marçais, Paul Kuentz, Laetitia Lambert, Salima El Chehadeh, Elise Schaefer, Marjolaine Willems, Fanny Laffargue, Christine Francannet, Mélanie Fradin, Dominique Gaillard, Sophie Blesson, Alice Goldenberg, Yline Capri, Paul Sagot, Thierry Rousseau, Emmanuel Simon, Christine Binquet, Marie-Laure Ascencio, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Antonio Vitobello, Christel Thauvin-Robinet

Eur J Hum Genet. 2022 Aug; 30(8): 967–975. Published online 2022 May 16. doi: 10.1038/s41431-022-01117-7

PMCID:: PMC9349205

Article PDF–686K

Select item 903638812.

Beyond the Syndrome: Extensive Congenital Abnormalities in an Infant With Trisomy 21

Jeremy D Ward, Mahesh S Sharma, Matthew F Pizzuto, Vincent J Moylan, Frederic B Askin, David G Kaufman

Clin Pathol. 2022 Jan-Dec; 15: 2632010X221088966. Published online 2022 Apr 22. doi: 10.1177/2632010X221088966

PMCID:: PMC9036388

Article PDF–1.9M

Select item 842150113.

A new classification of congenital abnormalities of UPVS: sonographic appearances, screening strategy and clinical significance

Yue Qin, Huaxuan Wen, Meiling Liang, Dandan Luo, Qing Zeng, Yimei Liao, Mengyu Zhang, Yan Ding, Xin Wen, Ying Tan, Ying Yuan, Shengli Li

Insights Imaging. 2021 Dec; 12: 125. Published online 2021 Sep 6. doi: 10.1186/s13244-021-01068-5

PMCID:: PMC8421501

Article PDF–7.0M

Select item 833423814.

Classification of congenital abnormalities of the CNS.

M S van der Knaap, J Valk

AJNR Am J Neuroradiol. 1988 Mar-Apr; 9(2): 315-26.

PMCID:: PMC8334238

Summary PDF–6.0M

Select item 814246315.

Interstitial 20p13 microdeletion including PRNP and adjacent genes in a fetus with congenital abnormalities—First case report

Pelin Onur, Mary Shaver, Mohammed Anwaruddin Iqbal

Clin Case Rep. 2021 May; 9(5): e04082. Published online 2021 May 4. doi: 10.1002/ccr3.4082

PMCID:: PMC8142463

Article PDF–219K

Select item 804067216.

Computer-Aided Diagnosis of Congenital Abnormalities of the Kidney and Urinary Tract in Children Using a Multi-Instance Deep Learning Method Based on Ultrasound Imaging Data

Shi Yin, Qinmu Peng, Hongming Li, Zhengqiang Zhang, Xinge You, Katherine Fischer, Susan L. Furth, Gregory E. Tasian, Yong Fan

Proc IEEE Int Symp Biomed Imaging. Author manuscript; available in PMC 2021 Apr 12.

Published in final edited form as: Proc IEEE Int Symp Biomed Imaging. 2020 Apr; 2020: 1347–1350. Published online 2020 May 22. doi: 10.1109/isbi45749.2020.9098506

PMCID:: PMC8040672

Article PDF–846K

Select item 793571217.

Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities

Lot Snijders Blok, Arianna Vino, Joery den Hoed, Hunter R. Underhill, Danielle Monteil, Hong Li, Francis Jeshira Reynoso Santos, Wendy K. Chung, Michelle D. Amaral, Rhonda E. Schnur, Teresa Santiago-Sim, Yue Si, Han G. Brunner, Tjitske Kleefstra, Simon E. Fisher

Genet Med. 2021; 23(3): 534–542. Published online 2020 Oct 28. doi: 10.1038/s41436-020-01016-6

PMCID:: PMC7935712

Article PDF–1.0M

Select item 789343018.

Congenital abnormalities in dead-in-shell chicks associated with mixed bacterial infections

Wael M. Hananeh, Mohammad Q. Al-Natour, Akram R. Alaboudi, Mahmoud N. Abo-Shehada, Zuhair A. Bani Ismail

Heliyon. 2021 Feb; 7(2): e06272. Published online 2021 Feb 14. doi: 10.1016/j.heliyon.2021.e06272

PMCID:: PMC7893430

Article PDF–1.1M

Select item 786326419.

Association of neural tube defects with congenital abnormalities of the urogenital system in a Chinese cohort

Zhi-Hua Hong, Dong-Hui Jin, Xiao-Jian Yuan, Yang Zhao, Hou-Wei Lin, Jie Chen

BMC Pediatr. 2021; 21: 66. Published online 2021 Feb 5. doi: 10.1186/s12887-021-02492-8

PMCID:: PMC7863264

Article PDF–237K

Select item 780857120.

Congenital abnormalities associated with Zika virus infection–Dengue as potential co-factor? A systematic review

Stephanie Petzold, Nisreen Agbaria, Andreas Deckert, Peter Dambach, Volker Winkler, Jan Felix Drexler, Olaf Horstick, Thomas Jaenisch

PLoS Negl Trop Dis. 2021 Jan; 15(1): e0008984. Published online 2021 Jan 4. doi: 10.1371/journal.pntd.0008984

PMCID:: PMC7808571

Article PDF–773K

<< First< Prev

Page of 267

Next >Last >>

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 5330

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity