U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 500

1.
Novel variants identified in CKAP2L in two siblings with Filippi syndrome
Ryan J. Patrick, Jill Weimer, Laura Davis-Keppen, Megan L. Landsverk
Cold Spring Harb Mol Case Stud. 2022 Feb; 8(2): a006130. doi: 10.1101/mcs.a006130
PMCID:
PMC8958909
ArticlePDF–526K
2.
Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral–facial–digital overlap syndrome
Jennifer J. Johnston, Chanjae Lee, Ingrid M. Wentzensen, Melissa A. Parisi, Molly M. Crenshaw, Julie C. Sapp, Jeffrey M. Gross, John B. Wallingford, Leslie G. Biesecker
Cold Spring Harb Mol Case Stud. 2017 Jul; 3(4): a001321. doi: 10.1101/mcs.a001321
PMCID:
PMC5495032
ArticlePDF–1.1M
3.
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.
A K Ryan, K Bartlett, P Clayton, S Eaton, L Mills, D Donnai, R M Winter, J Burn
J Med Genet. 1998 Jul; 35(7): 558–565. doi: 10.1136/jmg.35.7.558
PMCID:
PMC1051366
SummaryPage BrowsePDF–2.1M
4.
Keeping you on your toes: Smith–Lemli–Opitz Syndrome is an easily missed cause of developmental delays
Simone Coupe, Ashley Hertzog, Carolyn Foran, Adviye Ayper Tolun, Megan Suthern, Clara W. T. Chung, Carolyn Ellaway
Clin Case Rep. 2023 Feb; 11(2): e6920. Published online 2023 Feb 19. doi: 10.1002/ccr3.6920
PMCID:
PMC9939576
ArticlePDF–440K
5.
PHIP variants associated with Chung–Jansen syndrome disrupt replication fork stability and genome integrity
Neysha Tirado-Class, Caitlin Hathaway, Wendy K. Chung, Huzefa Dungrawala
Cold Spring Harb Mol Case Stud. 2022 Aug; 8(5): a006212. doi: 10.1101/mcs.a006212
PMCID:
PMC9528965
ArticlePDF–1.9M
6.
Novel DHCR7 mutation in a case of Smith–Lemli–Opitz syndrome showing 46,XY disorder of sex development
Mayuko Tamura, Tsuyoshi Isojima, Takeshi Kasama, Ryo Mafune, Konomi Shimoda, Hiroki Yasudo, Hiroyuki Tanaka, Chie Takahashi, Akira Oka, Sachiko Kitanaka
Hum Genome Var. 2017; 4: 17015. Published online 2017 May 11. doi: 10.1038/hgv.2017.15
PMCID:
PMC5425407
ArticlePDF–703K
7.
Cyclopia (Synophthalmia) in Smith-Lemli-Opitz Syndrome – First Reported Case and Consideration of Mechanism
David D. Weaver, Benjamin D. Solomon, Kelly Akin-Samson, Richard I. Kelley, Maximilian Muenke
Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2011 Feb 15.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2010 Feb 15; 154C(1): 142–145. doi: 10.1002/ajmg.c.30241
PMCID:
PMC2815131
ArticlePDF–377K
8.
PD-1 downregulation enhances CAR-T cell antitumor efficiency by preserving a cell memory phenotype and reducing exhaustion
Wanyan Ouyang, Shi-Wei Jin, Nan Xu, Wei-Yang Liu, Han Zhao, Liuqingqing Zhang, Liqing Kang, Yi Tao, Yuanfang Liu, Yan Wang, Jin Wang, Feng Liu, Lei Yu, Zhiqiang Liu, Jian-Qing Mi
J Immunother Cancer. 2024; 12(4): e008429. Published online 2024 Apr 8. doi: 10.1136/jitc-2023-008429
PMCID:
PMC11015237
ArticlePDF–4.9M
9.
Phosphoglycerate mutase 5 exacerbates liver ischemia–reperfusion injury by activating mitochondrial fission
Hongwei Tang, Qiwen Yu, Xu Chen, Jiakai Zhang, Danfeng Guo, Wenzhi Guo, Shuijun Zhang, Xiaoyi Shi
Sci Rep. 2024; 14: 8535. Published online 2024 Apr 12. doi: 10.1038/s41598-024-58748-7
PMCID:
PMC11014912
ArticlePDF–9.2M
10.
Fulvestrant and everolimus efficacy after CDK4/6 inhibitor: a prospective study with circulating tumor DNA analysis
Antoine Vasseur, Luc Cabel, Caroline Hego, Wissam Takka, Olfa Trabelsi Grati, Benjamin Renouf, Florence Lerebours, Delphine Loirat, Etienne Brain, Paul Cottu, Marie-Paule Sablin, Jean-Yves Pierga, Céline Callens, Shufang Renault, François-Clément Bidard
Oncogene. 2024; 43(16): 1214–1222. Published online 2024 Feb 27. doi: 10.1038/s41388-024-02986-6
PMCID:
PMC11014798
ArticlePDF–1.8M
11.
Identification of Dhx15 as a Major Regulator of Liver Development, Regeneration, and Tumor Growth in Zebrafish and Mice
Irene Portolés, Jordi Ribera, Esther Fernandez-Galán, Elena Lecue, Gregori Casals, Pedro Melgar-Lesmes, Guillermo Fernández-Varo, Loreto Boix, Marco Sanduzzi, Veenu Aishwarya, Maria Reig, Wladimiro Jiménez, Manuel Morales-Ruiz
Int J Mol Sci. 2024 Apr; 25(7): 3716. Published online 2024 Mar 27. doi: 10.3390/ijms25073716
PMCID:
PMC11011938
ArticlePDF–17M
12.
Proportion of Antipsychotics with CYP2D6 Pharmacogenetic (PGx) Associations Prescribed in an Early Intervention in Psychosis (EIP) Cohort: A Cross-Sectional Study
Adam Jameson, Muhammad Faisal, Beth Fylan, Greg C Bristow, Jaspreet Sohal, Caroline Dalton, Gurdeep S Sagoo, Alastair G Cardno, Samantha L McLean
J Psychopharmacol. 2024 Apr; 38(4): 382–394. Published online 2024 Mar 17. doi: 10.1177/02698811241238283
PMCID:
PMC11010551
ArticlePDF–1.4M
13.
Hexabothriidae and Monocotylidae (Monogenoidea) from the gills of neonate hammerhead sharks (Sphyrnidae) Sphyrna gilberti, Sphyrna lewini and their hybrids from the western North Atlantic Ocean
Kaitlyn M. Dalrymple, Isaure de Buron, Kristina M. Hill-Spanik, Ashley S. Galloway, Amanda Barker, David S. Portnoy, Bryan S. Frazier, Walter A. Boeger
Parasitology. 2022 Dec; 149(14): 1910–1927. Published online 2022 Aug 9. doi: 10.1017/S0031182022001007
PMCID:
PMC11010515
ArticlePDF–822K
14.
Prevalence and phylogeography of Taenia hydatigena metacestodes from goats of India
Aman D. Moudgil, Anil K. Nehra, Sukhdeep Vohra, Sidharath Dev Thakur, Dinesh Sharma
Parasitology. 2022 Aug; 149(9): 1193–1198. Published online 2022 May 16. doi: 10.1017/S0031182022000713
PMCID:
PMC11010500
ArticlePDF–450K
15.
Global epidemiology and molecular biology of Taenia multiceps: a comparative meta-analysis and in silico analysis study
Ibrahim Abbas, El-Sayed El-Alfy, Somaya Saleh, Claudia Tamponi, Antonio Varcasia
Parasitology. 2022 Oct; 149(12): 1607–1622. Published online 2022 Aug 12. doi: 10.1017/S0031182022001123
PMCID:
PMC11010139
ArticlePDF–722K
16.
Identification of the avian tracheal trematode Typhlocoelum cucumerinum (Trematoda: Cyclocoelidae) in a host–parasite–environment system: diagnosis, life cycle and molecular phylogeny
Jordana C. A. Assis, Danimar López-Hernández, Samantha Favoretto, Lilian B. Medeiros, Alan L. Melo, Nelson R. S. Martins, Hudson A. Pinto
Parasitology. 2021 Sep; 148(11): 1383–1391. Published online 2021 Jun 9. doi: 10.1017/S0031182021000986
PMCID:
PMC11010135
ArticlePDF–570K
17.
Exploring Neotropical anuran parasites: a morphological, life cycle and phylogenetic study of Catadiscus marinholutzi (Trematoda: Diplodiscidae)
Murilo S. Queiroz, Philippe V. Alves, Danimar López-Hernández, Luciano A. Anjos, Hudson A. Pinto
Parasitology. 2021 Jun; 148(7): 798–808. Published online 2021 Feb 17. doi: 10.1017/S0031182021000330
PMCID:
PMC11010121
ArticlePDF–723K
18.
Cystic echinococcosis in sheep and goats of Lebanon
Gaelle Joanny, Naunain Mehmood, Giorgia Dessì, Claudia Tamponi, Francesca Nonnis, Chadi Hosri, Urmas Saarma, Antonio Varcasia, Antonio Scala
Parasitology. 2021 Jun; 148(7): 871–878. Published online 2021 Mar 24. doi: 10.1017/S0031182021000494
PMCID:
PMC11010058
ArticlePDF–256K
19.
Giant Bilateral Adrenal Myelolipomas in a Non-Compliant Patient with Congenital Adrenal Hyperplasia
Tomas Brutvan, Otakar Psenicka, Jarmila Krizova, Marcela Kotasova, Jana Jezkova
Am J Case Rep. 2024; 25: e943005-1–e943005-6. Published online 2024 Apr 7. doi: 10.12659/AJCR.943005
PMCID:
PMC11009887
ArticlePDF–801K
20.
New species of Dermoergasilus Ho & Do, 1982 (Copepoda: Cyclopoida: Ergasilidae) parasitizing endemic cichlid Paretroplus polyactis (Bleeker) in Madagascar
Robert Míč, Eva Řehulková, Andrea Šimková, Jeanne Rasamy Razanabolana, Mária Seifertová
Parasitology. 2024 Mar; 151(3): 319–336. Published online 2024 Jan 19. doi: 10.1017/S0031182024000088
PMCID:
PMC11007281
ArticlePDF–799K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center