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

Year Number of Results
1991 1
1994 1
1998 2
1999 1
2000 1
2001 1
2002 1
2003 3
2004 1
2005 3
2006 1
2007 2
2008 1
2009 2
2010 2
2011 1
2012 2
2013 5
2014 2
2015 3
2017 2
2018 3
2019 5
2020 1
2021 2
2022 1
2023 4
2024 0

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51 results

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Page 1
Tall stature in children and adolescents.
Urakami T. Urakami T. Minerva Pediatr. 2020 Dec;72(6):472-483. doi: 10.23736/S0026-4946.20.05971-X. Epub 2020 Aug 4. Minerva Pediatr. 2020. PMID: 32748612 Review.
Pathological causes for tall statute include endocrine disorders, such as excessive growth hormone secretion, hyperthyroidism, precocious puberty and lipodystrophy, chromosome disorders, such as Trisomy X (47, XXX female), Klinefelter Syndrome (47, XXY), XYY syndrome (47, XYY mal …
Pathological causes for tall statute include endocrine disorders, such as excessive growth hormone secretion, hyperthyroidism, precocious pu …
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K, Loveday C, Yost S, Clarke M, Ramsay E, Zachariou A, Elliott A, Wylie H, Ardissone A, Rittinger O, Stewart F, Temple IK, Cole T; Childhood Overgrowth Collaboration; Mahamdallie S, Seal S, Ruark E, Rahman N. Tatton-Brown K, et al. Am J Hum Genet. 2017 May 4;100(5):725-736. doi: 10.1016/j.ajhg.2017.03.010. Am J Hum Genet. 2017. PMID: 28475857 Free PMC article.
This includes HIST1H1E, encoding histone H1.4, which has not been associated with a developmental disorder previously. The pathogenic HIST1H1E mutations are predicted to result in a product that is less effective in neutralizing negatively charged linker DNA because it has …
This includes HIST1H1E, encoding histone H1.4, which has not been associated with a developmental disorder previously. The pathogenic HIST1H …
Syndromic forms of congenital hyperinsulinism.
Zenker M, Mohnike K, Palm K. Zenker M, et al. Front Endocrinol (Lausanne). 2023 Mar 30;14:1013874. doi: 10.3389/fendo.2023.1013874. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37065762 Free PMC article. Review.
We assess the evidence of the association, as well as the prevalence of CHI, its possible pathophysiology and its natural course in the respective conditions. In many of the CHI-associated syndromic conditions, the mechanism of dysregulation of glucose-sensing and insulin …
We assess the evidence of the association, as well as the prevalence of CHI, its possible pathophysiology and its natural course in t …
Sotos syndrome.
Baujat G, Cormier-Daire V. Baujat G, et al. Orphanet J Rare Dis. 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. Orphanet J Rare Dis. 2007. PMID: 17825104 Free PMC article. Review.
An adequate psychological and educational program with speech therapy and motor stimulation plays an important role in the global development of the patients. Final body height is difficult to predict but growth tends to normalize after puberty....
An adequate psychological and educational program with speech therapy and motor stimulation plays an important role in the global developmen …
Congenital hyperinsulinism.
Arnoux JB, de Lonlay P, Ribeiro MJ, Hussain K, Blankenstein O, Mohnike K, Valayannopoulos V, Robert JJ, Rahier J, Sempoux C, Bellanné C, Verkarre V, Aigrain Y, Jaubert F, Brunelle F, Nihoul-Fékété C. Arnoux JB, et al. Early Hum Dev. 2010 May;86(5):287-94. doi: 10.1016/j.earlhumdev.2010.05.003. Epub 2010 Jun 13. Early Hum Dev. 2010. PMID: 20550977 Review.
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants.
Ferilli M, Ciolfi A, Pedace L, Niceta M, Radio FC, Pizzi S, Miele E, Cappelletti C, Mancini C, Galluccio T, Andreani M, Iascone M, Chiriatti L, Novelli A, Micalizzi A, Matraxia M, Menale L, Faletra F, Prontera P, Pilotta A, Bedeschi MF, Capolino R, Baban A, Seri M, Mammì C, Zampino G, Digilio MC, Dallapiccola B, Priolo M, Tartaglia M. Ferilli M, et al. Genes (Basel). 2022 Nov 19;13(11):2163. doi: 10.3390/genes13112163. Genes (Basel). 2022. PMID: 36421837 Free PMC article.
The impact of the training cohort size on sensitivity and prediction confidence of the classifier was assessed. RESULTS: The Sotos syndrome-specific DNAm signature was validated in six individuals with a clinical diagnosis of Sotos syndrome and carrying bona fide pathogeni …
The impact of the training cohort size on sensitivity and prediction confidence of the classifier was assessed. RESULTS: The Sotos sy …
Sotos syndrome treated with traditional Chinese medicine and rehabilitation: Case report.
Chen S, Zou P, Ge L, Cheng X. Chen S, et al. Medicine (Baltimore). 2023 Dec 1;102(48):e36169. doi: 10.1097/MD.0000000000036169. Medicine (Baltimore). 2023. PMID: 38050304 Free PMC article.
There is no radical cure, but our therapy could improve the prognosis and the life quality of the patient. Therefore, this case provides a reference to the clinical treatment of Sotos syndrome....
There is no radical cure, but our therapy could improve the prognosis and the life quality of the patient. Therefore, this case provi …
Growth in Sotos syndrome.
Agwu JC, Shaw NJ, Kirk J, Chapman S, Ravine D, Cole TR. Agwu JC, et al. Arch Dis Child. 1999 Apr;80(4):339-42. doi: 10.1136/adc.80.4.339. Arch Dis Child. 1999. PMID: 10086939 Free PMC article.
The syndromes of Sotos and Weaver: reports and review.
Opitz JM, Weaver DW, Reynolds JF Jr. Opitz JM, et al. Am J Med Genet. 1998 Oct 2;79(4):294-304. doi: 10.1002/(sici)1096-8628(19981002)79:4<294::aid-ajmg12>3.0.co;2-m. Am J Med Genet. 1998. PMID: 9781911 Review.
The syndromes of Sotos and Weaver are paradigmatic of the daily nosologic difficulties faced by clinical geneticists attempting to diagnose and counsel, and to give accurate prognoses in cases of extensive phenotypic overlap between molecularly undefined entities. ...
The syndromes of Sotos and Weaver are paradigmatic of the daily nosologic difficulties faced by clinical geneticists attempting to diagnose …
51 results