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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1980 2
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1985 1
1989 1
1990 2
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1993 4
1994 1
1995 1
1996 3
1997 4
1998 3
1999 5
2000 2
2001 4
2002 5
2003 2
2004 4
2005 1
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2007 4
2008 5
2009 4
2010 3
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152 results

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Quoted phrase not found in phrase index: "Visceral myopathy 2"
Page 1
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
Pingault V, Zerad L, Bertani-Torres W, Bondurand N. Pingault V, et al. J Med Genet. 2022 Feb;59(2):105-114. doi: 10.1136/jmedgenet-2021-108105. Epub 2021 Oct 19. J Med Genet. 2022. PMID: 34667088 Free PMC article. Review.
Since then, heterozygous mutations have been reported in Waardenburg syndrome type 2 (Waardenburg syndrome type without Hirschsprung disease), PCWH or PCW (peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, with or without Hirschsprung disea …
Since then, heterozygous mutations have been reported in Waardenburg syndrome type 2 (Waardenburg syndrome type without Hirschsprung …
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Piché J, Van Vliet PP, Pucéat M, Andelfinger G. Piché J, et al. Cell Cycle. 2019 Nov;18(21):2828-2848. doi: 10.1080/15384101.2019.1658476. Epub 2019 Sep 13. Cell Cycle. 2019. PMID: 31516082 Free PMC article. Review.
This review focuses on non-cohesion-related functions of the cohesin complex, gene dosage effect, epigenetic regulation and TGF-beta in cohesinopathy context, especially in comparison to Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome, a very distinct cohesinopat …
This review focuses on non-cohesion-related functions of the cohesin complex, gene dosage effect, epigenetic regulation and TGF-beta in cohe …
Long-Term Changes in Cardiac Structure and Function Following Bariatric Surgery.
Sorimachi H, Obokata M, Omote K, Reddy YNV, Takahashi N, Koepp KE, Ng ACT, Rider OJ, Borlaug BA. Sorimachi H, et al. J Am Coll Cardiol. 2022 Oct 18;80(16):1501-1512. doi: 10.1016/j.jacc.2022.08.738. J Am Coll Cardiol. 2022. PMID: 36229085 Free PMC article.
In subgroup analysis, LV wall thickness and strain correlated more strongly with VAT than BMI at baseline, and reductions in LV mass following surgery were correlated with decreases in VAT, but not BMI. CONCLUSIONS: In this observational study, weight loss following bariat …
In subgroup analysis, LV wall thickness and strain correlated more strongly with VAT than BMI at baseline, and reductions in LV mass followi …
Gastrointestinal system involvement in systemic lupus erythematosus.
Li Z, Xu D, Wang Z, Wang Y, Zhang S, Li M, Zeng X. Li Z, et al. Lupus. 2017 Oct;26(11):1127-1138. doi: 10.1177/0961203317707825. Epub 2017 May 19. Lupus. 2017. PMID: 28523968 Review.
This study aims to clarify clinical characteristics, diagnosis and treatment of the four major SLE-related GI system complications: protein-losing enteropathy (PLE), intestinal pseudo-obstruction (IPO), hepatic involvement and pancreatitis. ...
This study aims to clarify clinical characteristics, diagnosis and treatment of the four major SLE-related GI system complications: protein- …
Ogilvie's syndrome: management and outcomes.
Haj M, Haj M, Rockey DC. Haj M, et al. Medicine (Baltimore). 2018 Jul;97(27):e11187. doi: 10.1097/MD.0000000000011187. Medicine (Baltimore). 2018. PMID: 29979381 Free PMC article.
Ogilvie's syndrome, also known as acute colonic pseudo-obstruction, refers to pathologic dilation of the colon without underlying mechanical obstruction, occurring primarily in patients with serious comorbidities. ...The diagnosis of Ogilvie's syndrome was confirmed …
Ogilvie's syndrome, also known as acute colonic pseudo-obstruction, refers to pathologic dilation of the colon without underly …
The Diverse Phenotype of Intestinal Dysmotility Secondary to ACTG2-related Disorders.
Sandy NS, Huysentruyt K, Mulder DJ, Warner N, Chong K, Morel C, AlQahtani S, Wales PW, Martin MG, Muise AM, Avitzur Y. Sandy NS, et al. J Pediatr Gastroenterol Nutr. 2022 May 1;74(5):575-581. doi: 10.1097/MPG.0000000000003400. J Pediatr Gastroenterol Nutr. 2022. PMID: 35149643 Free PMC article.
BACKGROUND AND AIMS: The initial description of a heterozygous dominant ACTG2 variant in familial visceral myopathy was followed by the identification of additional variants in other forms of intestinal dysmotility disorders. we aimed to describe the diverse …
BACKGROUND AND AIMS: The initial description of a heterozygous dominant ACTG2 variant in familial visceral myopathy was follow …
Bowel obstruction and hernia.
Hayden GE, Sprouse KL. Hayden GE, et al. Emerg Med Clin North Am. 2011 May;29(2):319-45, ix. doi: 10.1016/j.emc.2011.01.004. Emerg Med Clin North Am. 2011. PMID: 21515182 Review.
Bowel obstruction and abdominal hernia are commonly observed in patients seeking emergency care for abdominal pain. This article discusses bowel obstruction, adynamic ileus, acute colonic pseudo-obstruction, and abdominal hernias, with particular emphasis on …
Bowel obstruction and abdominal hernia are commonly observed in patients seeking emergency care for abdominal pain. This article disc …
Evaluation of risk factors for pseudo-obstruction in systemic sclerosis.
Dein E, Kuo PL, Hong YS, Hummers LK, Mecoli CA, McMahan ZH. Dein E, et al. Semin Arthritis Rheum. 2019 Dec;49(3):405-410. doi: 10.1016/j.semarthrit.2019.05.005. Epub 2019 May 23. Semin Arthritis Rheum. 2019. PMID: 31202479 Free PMC article.
RESULTS: 175 patients with SSc had a history of pseudo-obstruction, and 2,637 SSc patients did not. After adjusting for significant variables from the univariate analysis and potential confounders, the Cox proportional hazards multivariable analysis demonstra …
RESULTS: 175 patients with SSc had a history of pseudo-obstruction, and 2,637 SSc patients did not. After adjusting for …
Mitochondria and peripheral neuropathies.
Vital A, Vital C. Vital A, et al. J Neuropathol Exp Neurol. 2012 Dec;71(12):1036-46. doi: 10.1097/NEN.0b013e3182764d47. J Neuropathol Exp Neurol. 2012. PMID: 23147504
Most patients have sensory-motor neuropathy, sometimes associated with ophthalmoplegia, ataxia, seizures, parkinsonism, myopathy, or visceral disorders. Some cases are caused by consanguinity, but most are sporadic with various phenotypes mimicking a wide range of o …
Most patients have sensory-motor neuropathy, sometimes associated with ophthalmoplegia, ataxia, seizures, parkinsonism, myopathy, or …
Circulating miRNAs as Biomarkers for Mitochondrial Neuro-Gastrointestinal Encephalomyopathy.
Mencias M, Levene M, Blighe K, Bax BE, On Behalf Of The Project Group. Mencias M, et al. Int J Mol Sci. 2021 Apr 1;22(7):3681. doi: 10.3390/ijms22073681. Int J Mol Sci. 2021. PMID: 33916195 Free PMC article.

Forty-one differentially expressed candidate miRNAs were identified in the sera of patients (p < 0.05, log(2) fold change > 1). The validation cohort revealed that of those, 27 miRNAs were upregulated in plasma and three miRNAs were upregulated in sera (p < 0.05).

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Forty-one differentially expressed candidate miRNAs were identified in the sera of patients (p < 0.05, log(2) fold change > 1).

…
152 results