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

Year Number of Results
1976 2
1983 1
1985 1
1987 1
1989 1
1990 2
1991 5
1992 2
1993 1
1995 4
1996 4
1997 6
1998 4
1999 5
2000 6
2001 10
2002 4
2003 7
2004 7
2005 8
2006 6
2007 7
2008 7
2009 6
2010 5
2011 13
2012 12
2013 20
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2015 12
2016 10
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2018 12
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2020 14
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2024 2

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248 results

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Quoted phrase not found in phrase index: "Developmental anomaly of metabolic origin"
Page 1
A review of factors influencing the incidence and severity of plaque-induced gingivitis.
Trombelli L, Farina R. Trombelli L, et al. Minerva Stomatol. 2013 Jun;62(6):207-34. Minerva Stomatol. 2013. PMID: 23828258 Review. English, Italian.
The reported significant differences in gingival inflammatory response under quantitatively and/or qualitatively almost identical bacterial challenge suggest that the gingival response to plaque accumulation may be an individual trait, possibly genetic in origin. The most …
The reported significant differences in gingival inflammatory response under quantitatively and/or qualitatively almost identical bacterial …
Epigenetics in epilepsy.
Kobow K, Blümcke I. Kobow K, et al. Neurosci Lett. 2018 Feb 22;667:40-46. doi: 10.1016/j.neulet.2017.01.012. Epub 2017 Jan 19. Neurosci Lett. 2018. PMID: 28111355 Review.
However, progression of seizure activity as well as the development of drug-resistance remains difficult to predict, irrespective of the underlying epileptogenic condition, i.e., traumatic brain injury, developmental brain lesions, brain tumors or genetic inheritanc …
However, progression of seizure activity as well as the development of drug-resistance remains difficult to predict, irrespective of …
Fetal cytomegalovirus infection.
Leruez-Ville M, Ville Y. Leruez-Ville M, et al. Best Pract Res Clin Obstet Gynaecol. 2017 Jan;38:97-107. doi: 10.1016/j.bpobgyn.2016.10.005. Epub 2016 Oct 20. Best Pract Res Clin Obstet Gynaecol. 2017. PMID: 27923540 Review.
Cytomegalovirus (CMV) congenital infection affects 0.7% of live births worldwide and is the leading cause of congenital neurological handicap of infectious origin. ...This review provides an update on the evidence for diagnosis, prognosis and treatment …
Cytomegalovirus (CMV) congenital infection affects 0.7% of live births worldwide and is the leading cause of congenital neurol …
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.
Jennings MJ, Kagiava A, Vendredy L, Spaulding EL, Stavrou M, Hathazi D, Grüneboom A, De Winter V, Gess B, Schara U, Pogoryelova O, Lochmüller H, Borchers CH, Roos A, Burgess RW, Timmerman V, Kleopa KA, Horvath R. Jennings MJ, et al. Brain. 2022 Nov 21;145(11):3999-4015. doi: 10.1093/brain/awac055. Brain. 2022. PMID: 35148379 Free PMC article.
We also identify serum GDF15 as a highly sensitive diagnostic biomarker, which was elevated in all CMT genotypes as well as in Hspb8K141N, Gjb1-null, GarsC201R and GarsP278KY mouse models. Although we cannot fully explain its origin, it may reflect increased stress respons …
We also identify serum GDF15 as a highly sensitive diagnostic biomarker, which was elevated in all CMT genotypes as well as in Hspb8K141N, G …
Genetics of neuromuscular fetal akinesia in the genomics era.
Beecroft SJ, Lombard M, Mowat D, McLean C, Cairns A, Davis M, Laing NG, Ravenscroft G. Beecroft SJ, et al. J Med Genet. 2018 Aug;55(8):505-514. doi: 10.1136/jmedgenet-2018-105266. Epub 2018 Jun 29. J Med Genet. 2018. PMID: 29959180 Review.
Fetal hypokinesia or akinesia encompasses a broad spectrum of disorders, united by impaired movement in utero. Often, the underlying aetiology is genetic in origin, affecting part of the neuromuscular system. The affordable and high-throughput nature of next-generation DNA …
Fetal hypokinesia or akinesia encompasses a broad spectrum of disorders, united by impaired movement in utero. Often, the underlying aetiolo …
Transcription factor AP-2beta in development, differentiation and tumorigenesis.
Raap M, Gierendt L, Kreipe HH, Christgen M. Raap M, et al. Int J Cancer. 2021 Sep 15;149(6):1221-1227. doi: 10.1002/ijc.33558. Epub 2021 Mar 26. Int J Cancer. 2021. PMID: 33720400 Free article. Review.
Several studies indicate a critical role of AP-2beta in the development of tissues and organs of ectodermal, neuroectodermal and also mesodermal origin. Germline mutation of TFAP2B is known to cause the Char syndrome, an autosomal dominant disorder characterized by facial …
Several studies indicate a critical role of AP-2beta in the development of tissues and organs of ectodermal, neuroectodermal and also mesode …
Genomic imprinting and Turner syndrome.
Bondy CA, Hougen HY, Zhou J, Cheng CM. Bondy CA, et al. Pediatr Endocrinol Rev. 2012 May;9 Suppl 2:728-32. Pediatr Endocrinol Rev. 2012. PMID: 22946286 Review.
., social skills, regional fat deposition and adult height. Such X-imprinted traits are predicted to differ in Turner groups monosomic for Xm vs. Xp. We review relevant studies of psychosocial attributes, regional fat distribution and height in TS related to parent of o …
., social skills, regional fat deposition and adult height. Such X-imprinted traits are predicted to differ in Turner groups monosomi …
A somatic missense mutation in GNAQ causes capillary malformation.
Bichsel C, Bischoff J. Bichsel C, et al. Curr Opin Hematol. 2019 May;26(3):179-184. doi: 10.1097/MOH.0000000000000500. Curr Opin Hematol. 2019. PMID: 30870248 Free PMC article. Review.
PURPOSE OF REVIEW: Capillary malformations, the most common type of vascular malformation, are caused by a somatic mosaic mutation in GNAQ, which encodes the Galphaq subunit of heterotrimeric G-proteins. How the single amino acid change - predicted to activate Galphaq - ca …
PURPOSE OF REVIEW: Capillary malformations, the most common type of vascular malformation, are caused by a somatic mosaic mutation in GNAQ, …
Impact of parental origin of X-chromosome on clinical and biochemical profile in Turner syndrome.
Malhotra R, Shukla R, Kabra M, Gupta Y, Jyotsna VP, Khadgawat R. Malhotra R, et al. J Pediatr Endocrinol Metab. 2020 Sep 25;33(9):1155-1163. doi: 10.1515/jpem-2020-0104. J Pediatr Endocrinol Metab. 2020. PMID: 32813677 Clinical Trial.
For the evaluation of parent-of-origin effects, typical phenotypic traits including congenital malformations, anthropometry, body composition by dual energy X-ray absorptiometry (DXA) and biochemical profile were compared. Clinical stigmata of TS in all subjects wer …
For the evaluation of parent-of-origin effects, typical phenotypic traits including congenital malformations, anthropometry, b …
248 results