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

Year Number of Results
1975 1
1977 1
1979 2
1981 1
1982 1
1985 1
1986 3
1988 1
1989 2
1990 2
1991 2
1992 3
1993 2
1994 2
1995 1
1996 3
1997 4
1998 3
1999 4
2000 1
2001 3
2002 3
2003 3
2004 4
2005 4
2006 4
2007 8
2008 4
2009 4
2010 7
2011 6
2012 5
2013 3
2014 3
2015 7
2016 5
2017 3
2018 6
2019 10
2020 5
2021 6
2022 6
2023 6
2024 4

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137 results

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Page 1
Successful Anesthesia Management of Pediatric Living Donor Liver Transplant With Mild Bilateral Pulmonary Artery Stenosis Due to Alagille Syndrome: A Case Report.
Çekmen N, Uslu A, Torgay A, Araz C, Karakaya E, Yildirim S, Tokel K, Haberal M. Çekmen N, et al. Exp Clin Transplant. 2024 Feb;22(2):160-164. doi: 10.6002/ect.2023.0308. Exp Clin Transplant. 2024. PMID: 38511987 Free article.
Alagille syndrome is an autosomal-dominantinherited disease characterized by intrahepatic bile duct involvement, congenital heart disease, eye anomalies, skeletal and central nervous system involvement, kidney anomalies, and facial appearance. ...Succe …
Alagille syndrome is an autosomal-dominantinherited disease characterized by intrahepatic bile duct involvement, congenital
Lichen sclerosus associated with Turner syndrome treated with photodynamic therapy: A case report.
Wang Y, Liu J. Wang Y, et al. Photodiagnosis Photodyn Ther. 2024 Feb;45:103932. doi: 10.1016/j.pdpdt.2023.103932. Epub 2023 Dec 12. Photodiagnosis Photodyn Ther. 2024. PMID: 38097123 Free article.
Turner syndrome (TS) is a rare clinical condition associated with a completely or partially absence, or structural abnormality of an X chromosome, mainly representing as short stature and skeletal anomalies, female hypergonadotropic hypogonadism and infertili …
Turner syndrome (TS) is a rare clinical condition associated with a completely or partially absence, or structural abnormality …
Novel therapies for growth disorders.
Galetaki DM, Merchant N, Dauber A. Galetaki DM, et al. Eur J Pediatr. 2024 Mar;183(3):1121-1128. doi: 10.1007/s00431-023-05239-y. Epub 2023 Oct 13. Eur J Pediatr. 2024. PMID: 37831302 Review.
Such therapy is not always effective based on the underlying diagnosis (e.g achondroplasia, Turner syndrome). Compliance with daily injections is challenging and can directly affect efficacy. ...Newer therapies for achondroplasia, and other rare forms of skeletal dy …
Such therapy is not always effective based on the underlying diagnosis (e.g achondroplasia, Turner syndrome). Compliance with daily i …
Beckwith-Wiedemann Syndrome.
Shuman C, Kalish JM, Weksberg R. Shuman C, et al. 2000 Mar 3 [updated 2023 Sep 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Mar 3 [updated 2023 Sep 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301568 Free Books & Documents. Review.
After childhood, prognosis is generally favorable, although some adults experience issues requiring medical management (e.g., for renal or skeletal concerns). DIAGNOSIS/TESTING: The clinical diagnosis of BWS can be established in a proband who has two tier 1 charact …
After childhood, prognosis is generally favorable, although some adults experience issues requiring medical management (e.g., for renal or …
DiGeorge Syndrome.
Lackey AE, Muzio MR. Lackey AE, et al. 2023 Aug 8. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Aug 8. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 31747205 Free Books & Documents.
Features of DGS were first described in 1828 but properly reported by Dr. Angelo DiGeorge in 1965, as a clinical trial that included immunodeficiency, hypoparathyroidism, and congenital heart disease. DGS is one of several syndromes that has his …
Features of DGS were first described in 1828 but properly reported by Dr. Angelo DiGeorge in 1965, as a clinical trial that in …
Successful treatment of post-pericardiotomy syndrome via C1 inhibitor replacement therapy in a hereditary angioedema patient with Marfan syndrome.
Topyıldız E, Şenol HD, Gülen F, Demir E, Gökmen NM. Topyıldız E, et al. Turk J Pediatr. 2023;65(2):338-343. doi: 10.24953/turkjped.2022.637. Turk J Pediatr. 2023. PMID: 37114700 Free article.
The syndrome developed in a patient with hereditary angioedema (HAE) who underwent open heart surgery due to cardiac involvement in Marfan syndrome. CASE: A nine-year-old male HAE-C1INH patient underwent open heart surgery secondary to cardiac involvem …
The syndrome developed in a patient with hereditary angioedema (HAE) who underwent open heart surgery due to cardiac involveme …
Identifying responders to elamipretide in Barth syndrome: Hierarchical clustering for time series data.
Van den Eynde J, Chinni B, Vernon H, Thompson WR, Hornby B, Kutty S, Manlhiot C. Van den Eynde J, et al. Orphanet J Rare Dis. 2023 Apr 11;18(1):76. doi: 10.1186/s13023-023-02676-8. Orphanet J Rare Dis. 2023. PMID: 37041653 Free PMC article. Clinical Trial.
BACKGROUND: Barth syndrome (BTHS) is a rare genetic disease that is characterized by cardiomyopathy, skeletal myopathy, neutropenia, and growth abnormalities and often leads to death in childhood. ...This study aimed to identify patients with BTHS who may res …
BACKGROUND: Barth syndrome (BTHS) is a rare genetic disease that is characterized by cardiomyopathy, skeletal myopathy, neutro …
Inside the Noonan "universe": Literature review on growth, GH/IGF axis and rhGH treatment: Facts and concerns.
Stagi S, Ferrari V, Ferrari M, Priolo M, Tartaglia M. Stagi S, et al. Front Endocrinol (Lausanne). 2022 Aug 18;13:951331. doi: 10.3389/fendo.2022.951331. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36060964 Free PMC article. Review.
Noonan syndrome (NS) is a disorder characterized by a typical facial gestalt, congenital heart defects, variable cognitive deficits, skeletal defects, and short stature. ...Herein we provide an updated review of aspects related to growth, …
Noonan syndrome (NS) is a disorder characterized by a typical facial gestalt, congenital heart defects, variable …
Natural history comparison study to assess the efficacy of elamipretide in patients with Barth syndrome.
Hornby B, Thompson WR, Almuqbil M, Manuel R, Abbruscato A, Carr J, Vernon HJ. Hornby B, et al. Orphanet J Rare Dis. 2022 Sep 2;17(1):336. doi: 10.1186/s13023-022-02469-5. Orphanet J Rare Dis. 2022. PMID: 36056411 Free PMC article. Clinical Trial.
A phase 3, observational, retrospective, and non-interventional study was designed to establish a natural history control (NHC) cohort of patients with Barth syndrome (BTHS) to provide further analysis of the efficacy of elamipretide observed in an open-label extension (OL …
A phase 3, observational, retrospective, and non-interventional study was designed to establish a natural history control (NHC) cohort of pa …
Male Marfan mice are predisposed to high-fat diet-induced obesity, diabetes, and fatty liver.
Tiedemann K, Muthu ML, Reinhardt DP, Komarova SV. Tiedemann K, et al. Am J Physiol Cell Physiol. 2022 Aug 1;323(2):C354-C366. doi: 10.1152/ajpcell.00062.2022. Epub 2022 Jun 27. Am J Physiol Cell Physiol. 2022. PMID: 35759435 Free article.
Gene mutations in the extracellular matrix protein fibrillin-1 cause connective tissue disorders including Marfan syndrome (MFS) with clinical symptoms in the cardiovascular, skeletal, and ocular systems. ...
Gene mutations in the extracellular matrix protein fibrillin-1 cause connective tissue disorders including Marfan syndrome (MFS) with …
137 results