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2006 2
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A Distinctive Adnexal (Usually Paratubal) Neoplasm Often Associated With Peutz-Jeghers Syndrome and Characterized by STK11 Alterations (STK11 Adnexal Tumor): A Report of 22 Cases.
Bennett JA, Young RH, Howitt BE, Croce S, Wanjari P, Zhen C, Da Cruz Paula A, Meserve E, Schoolmeester JK, Westbom-Fremer S, Benzi E, Patil NM, Kooreman L, El-Bahrawy M, Zannoni GF, Krausz T, McCluggage WG, Weigelt B, Ritterhouse LL, Oliva E. Bennett JA, et al. Am J Surg Pathol. 2021 Aug 1;45(8):1061-1074. doi: 10.1097/PAS.0000000000001677. Am J Surg Pathol. 2021. PMID: 33534223 Free PMC article.
PAX8, SF1, and GATA-3 were rarely positive, while claudin-4, FOXL2, and TTF-1 were consistently negative. All sequenced tumors (n=21) harbored alterations in STK11, often with a loss of heterozygosity event. ...
PAX8, SF1, and GATA-3 were rarely positive, while claudin-4, FOXL2, and TTF-1 were consistently negative. All sequenced tumors (n=21) …
FOXL2 molecular status in adult granulosa cell tumors of the ovary: A study of primary and metastatic cases.
Zannoni GF, Improta G, Petrillo M, Pettinato A, Scambia G, Fraggetta F. Zannoni GF, et al. Oncol Lett. 2016 Aug;12(2):1159-1163. doi: 10.3892/ol.2016.4711. Epub 2016 Jun 14. Oncol Lett. 2016. PMID: 27446412 Free PMC article.
The samples consisted of 37 primary and 5 metastatic ovarian AGCTs from 37 patients. FOXL2 mutational status was evaluated using a pyrosequencing approach on 2.5-m sections of formalin-fixed paraffin-embedded tissue. ...Moreover the concordance of FOXL2 molecular st …
The samples consisted of 37 primary and 5 metastatic ovarian AGCTs from 37 patients. FOXL2 mutational status was evaluated using a py …
Transcriptome analysis revealed gene expression feminization of testis after exogenous tetrodotoxin administration in pufferfish Takifugu flavidus.
He X, Wu H, Ye Y, Gong X, Bao B. He X, et al. BMC Genomics. 2022 Aug 3;23(1):553. doi: 10.1186/s12864-022-08787-z. BMC Genomics. 2022. PMID: 35922761 Free PMC article.
The results demonstrated that exogenous TTX administration significantly incresed level of TTX concentration in kidney, cholecyst, skin, liver, heart, muscle, ovary and testis of the treatment group (TG) than that of the control group (CG). ...The results showed that compa …
The results demonstrated that exogenous TTX administration significantly incresed level of TTX concentration in kidney, cholecyst, skin, liv …
Identification and characterization of novel and conserved microRNAs in several tissues of the Chinese rare minnow (Gobiocypris rarus) based on illumina deep sequencing technology.
Hong X, Qin J, Chen R, Yuan L, Zha J, Wang Z. Hong X, et al. BMC Genomics. 2016 Apr 12;17:283. doi: 10.1186/s12864-016-2606-5. BMC Genomics. 2016. PMID: 27066897 Free PMC article.
To discover conserved and potential novel miRNAs in Chinese rare minnows, a pool of equal amounts of RNA obtained from 6 different adult rare minnow tissues (brain, eye, gill, liver, muscle and heart) was sequenced using illumina deep sequencing technology. RESULTS: In the …
To discover conserved and potential novel miRNAs in Chinese rare minnows, a pool of equal amounts of RNA obtained from 6 different adult rar …
Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES).
Liu Y, Cao Y, Li Y, Lei D, Li L, Hou ZL, Han S, Meng M, Shi J, Zhang Y, Wang Y, Niu Z, Xie Y, Xiao B, Wang Y, Li X, Yang L, Wang W, Jiang L. Liu Y, et al. Med Sci Monit. 2018 Mar 5;24:1340-1358. doi: 10.12659/msm.908923. Med Sci Monit. 2018. PMID: 29505555 Free PMC article.
RESULTS From five patients with sporadic ASD, a total of 181,762 genomic variants in 33 exon loci, validated by Sanger sequencing, were selected and underwent MassARRAY analysis in 452 patients with ASD and 519 healthy subjects. Three loci with high mutation frequencies, the 1386 …
RESULTS From five patients with sporadic ASD, a total of 181,762 genomic variants in 33 exon loci, validated by Sanger sequencing, were sele …
Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report.
Jinxiu L, Shuimei L, Ming X, Jonathan LC, Xiangju L, Wenyuan D. Jinxiu L, et al. Medicine (Baltimore). 2020 Apr;99(16):e19813. doi: 10.1097/MD.0000000000019813. Medicine (Baltimore). 2020. PMID: 32311999 Free PMC article.
PATIENT CONCERNS: The patient demonstrated typical craniofacial features of blepharophimosis-ptosis-epicanthus inversus syndrome, including small palpebral fissures, ptosis, telecanthus, and epicanthus inversus, besides he had congenital heart disease (ventricular septal d …
PATIENT CONCERNS: The patient demonstrated typical craniofacial features of blepharophimosis-ptosis-epicanthus inversus syndrome, including …
Transcriptome analysis of the oriental river prawn, Macrobrachium nipponense using 454 pyrosequencing for discovery of genes and markers.
Ma K, Qiu G, Feng J, Li J. Ma K, et al. PLoS One. 2012;7(6):e39727. doi: 10.1371/journal.pone.0039727. Epub 2012 Jun 20. PLoS One. 2012. PMID: 22745820 Free PMC article.
METHODOLOGY AND PRINCIPAL FINDINGS: Total RNA was isolated from eyestalk, gill, heart, ovary, testis, hepatopancreas, muscle, and embryos at the cleavage, gastrula, nauplius and zoea stages. ...Based on our sequence analysis and published literature, many putative genes in …
METHODOLOGY AND PRINCIPAL FINDINGS: Total RNA was isolated from eyestalk, gill, heart, ovary, testis, hepatopancreas, muscle, and emb …
cDNA cloning, genomic structure, chromosomal mapping and expression analysis of ADIPOQ (adiponectin) in chicken.
Yuan J, Liu W, Liu ZL, Li N. Yuan J, et al. Cytogenet Genome Res. 2006;112(1-2):148-51. doi: 10.1159/000087527. Cytogenet Genome Res. 2006. PMID: 16276104
Reverse transcription-PCR revealed chicken ADIPOQ mRNA displayed high expression levels in fat tissue, heart, stomach and skin and weak expression in muscle. Analysis of a radiation hybrid panel indicated that ADIPOQ showed the most significant linkage to FOXL2 (LOD …
Reverse transcription-PCR revealed chicken ADIPOQ mRNA displayed high expression levels in fat tissue, heart, stomach and skin and we …
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.
Bashamboo A, Eozenou C, Jorgensen A, Bignon-Topalovic J, Siffroi JP, Hyon C, Tar A, Nagy P, Sólyom J, Halász Z, Paye-Jaouen A, Lambert S, Rodriguez-Buritica D, Bertalan R, Martinerie L, Rajpert-De Meyts E, Achermann JC, McElreavey K. Bashamboo A, et al. Am J Hum Genet. 2018 Mar 1;102(3):487-493. doi: 10.1016/j.ajhg.2018.01.021. Epub 2018 Feb 22. Am J Hum Genet. 2018. PMID: 29478779 Free PMC article.
In two of three children the mutation was de novo. All three children presented with congenital heart disease (CHD), one child with congenital diaphragmatic hernia (CDH), and two children with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). ...We demonstrate a …
In two of three children the mutation was de novo. All three children presented with congenital heart disease (CHD), one child with c …
Young-Simpson syndrome (YSS), a variant of del(1)(p36) syndrome?
Robinson DM, Meagher CC, Orlowski CC, Lagoe EC, Fong CT. Robinson DM, et al. Am J Med Genet A. 2008 Jun 15;146A(12):1571-4. doi: 10.1002/ajmg.a.32096. Am J Med Genet A. 2008. PMID: 18470891
The Young-Simpson syndrome (YSS) and 1p36 deletion syndrome are both characterized by facial and heart abnormalities, congenital hypothyroidism, and severe growth and developmental retardation. ...
The Young-Simpson syndrome (YSS) and 1p36 deletion syndrome are both characterized by facial and heart abnormalities, congenital hypo …
12 results