Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1972 1
1981 2
1983 1
1985 2
1989 1
1990 1
1992 1
1994 1
1996 1
1997 1
2000 1
2004 1
2007 3
2008 1
2010 1
2012 1
2013 1
2015 1
2016 1
2017 3
2018 1
2022 2
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

27 results

Results by year

Filters applied: . Clear all
Page 1
MIS-C: A COVID-19-as sociated condition between hypoimmunity and hyperimmunity.
Gelzo M, Castaldo A, Giannattasio A, Scalia G, Raia M, Esposito MV, Maglione M, Muzzica S, D'Anna C, Grieco M, Tipo V, La Cava A, Castaldo G. Gelzo M, et al. Front Immunol. 2022 Oct 3;13:985433. doi: 10.3389/fimmu.2022.985433. eCollection 2022. Front Immunol. 2022. PMID: 36263058 Free PMC article.
Thus, an incomplete clearance of the Sars-CoV2 during the acute phase may induce tissue damage and self-antigen exposure and genetic variants can predispose to hyper-reactive immune dysregulation events of MIS-C-syndrome. Type II IFN activation and cytokine response …
Thus, an incomplete clearance of the Sars-CoV2 during the acute phase may induce tissue damage and self-antigen exposure and genetic variant …
The diagnosis of the Sanfilippo C syndrome, using monosaccharide and oligosaccharide substrates to assay acetyl-CoA: 2-amino-2-deoxy-alpha-glucoside N-acetyltransferase activity.
Hopwood JJ, Elliott H. Hopwood JJ, et al. Clin Chim Acta. 1981 Apr 27;112(1):67-75. doi: 10.1016/0009-8981(81)90269-2. Clin Chim Acta. 1981. PMID: 6786804
Glucosamine, galactosamine, mannosamine, several disaccharides and a tetrasaccharide were evaluated as substrates for the N-acetyltransferase involved in the pathogenesis of the Sanfilippo C syndrome. Glucosamine and alpha-D-glucosaminide disaccharides and a tetrasa …
Glucosamine, galactosamine, mannosamine, several disaccharides and a tetrasaccharide were evaluated as substrates for the N-acetyltransferas …
Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others.
Chen CP. Chen CP. Taiwan J Obstet Gynecol. 2007 Jun;46(2):111-20. doi: 10.1016/S1028-4559(07)60004-7. Taiwan J Obstet Gynecol. 2007. PMID: 17638618 Free article. Review.
This article provides a comprehensive review of omphalocele-related disorders: otopalatodigital syndrome type II; Melnick-Needles syndrome; Rieger syndrome; neural tube defects; Meckel syndrome; Shprintzen-Goldberg omphalocele syndrome; lethal omphalocele-cleft palate syndrome; c …
This article provides a comprehensive review of omphalocele-related disorders: otopalatodigital syndrome type II; Melnick-Needles syndrome; …
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.
Urreizti R, Damanti S, Esteve C, Franco-Valls H, Castilla-Vallmanya L, Tonda R, Cormand B, Vilageliu L, Opitz JM, Neri G, Grinberg D, Balcells S. Urreizti R, et al. Sci Rep. 2018 Jan 12;8(1):694. doi: 10.1038/s41598-017-19109-9. Sci Rep. 2018. PMID: 29330474 Free PMC article.
De novo FOXP1 mutations have been associated with intellectual disability (ID), motor delay, autistic features and a wide spectrum of speech difficulties. C syndrome (Opitz C trigonocephaly syndrome) is a rare and genetically heterogeneous condition, characterized b …
De novo FOXP1 mutations have been associated with intellectual disability (ID), motor delay, autistic features and a wide spectrum of speech …
Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly.
Schaap C, Schrander-Stumpel CT, Fryns JP. Schaap C, et al. Genet Couns. 1992;3(4):209-15. Genet Couns. 1992. PMID: 1472356 Review.
The second patient had initially a delayed motor development, but finally attained normal intelligence. A review of 22 patients with Opitz-C syndrome from the literature is presented. Most of the typical facial dysmorphism can be regarded as part of a trigonocephaly …
The second patient had initially a delayed motor development, but finally attained normal intelligence. A review of 22 patients with Opitz- …
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.
Urreizti R, Roca-Ayats N, Trepat J, Garcia-Garcia F, Aleman A, Orteschi D, Marangi G, Neri G, Opitz JM, Dopazo J, Cormand B, Vilageliu L, Balcells S, Grinberg D. Urreizti R, et al. Am J Med Genet A. 2016 Jan;170A(1):24-31. doi: 10.1002/ajmg.a.37418. Epub 2015 Oct 7. Am J Med Genet A. 2016. PMID: 26768331
Opitz C trigonocephaly (or Opitz C syndrome, OTCS) and Bohring-Opitz syndrome (BOS or C-like syndrome) are two rare genetic disorders with phenotypic overlap. ...
Opitz C trigonocephaly (or Opitz C syndrome, OTCS) and Bohring-Opitz syndrome (BOS or C-like syndrome) are two rare genetic di …
Trigonocephaly and the Opitz C syndrome.
Sargent C, Burn J, Baraitser M, Pembrey ME. Sargent C, et al. J Med Genet. 1985 Feb;22(1):39-45. doi: 10.1136/jmg.22.1.39. J Med Genet. 1985. PMID: 3981579 Free PMC article.
On the basis of this experience we examine the diagnostic criteria for the presumed autosomal recessive trigonocephaly C syndrome....
On the basis of this experience we examine the diagnostic criteria for the presumed autosomal recessive trigonocephaly C syndrome …
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.
Urreizti R, Cueto-Gonzalez AM, Franco-Valls H, Mort-Farre S, Roca-Ayats N, Ponomarenko J, Cozzuto L, Company C, Bosio M, Ossowski S, Montfort M, Hecht J, Tizzano EF, Cormand B, Vilageliu L, Opitz JM, Neri G, Grinberg D, Balcells S. Urreizti R, et al. Sci Rep. 2017 Mar 10;7:44138. doi: 10.1038/srep44138. Sci Rep. 2017. PMID: 28281571 Free PMC article.
Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor disability, and variable cardiac defects with a high mortality rate. ...
Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectu …
Further delineation of the C (trigonocephaly) syndrome.
Antley RM, Hwang DS, Theopold W, Gorlin RJ, Steeper T, Pitt D, Danks DM, McPherson E, Bartels H, Wiedemann HR, Opitz JM. Antley RM, et al. Am J Med Genet. 1981;9(2):147-63. doi: 10.1002/ajmg.1320090209. Am J Med Genet. 1981. PMID: 7258228
Normal chromosomes, normal parents with multiple affected offspring, equal sex ratio of affected individuals, and consanguineous matings all support autosomal recessive inheritance of the C syndrome. In autopsied cases, there has been a suggestion of defective centr …
Normal chromosomes, normal parents with multiple affected offspring, equal sex ratio of affected individuals, and consanguineous matings all …
27 results