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
1985 1
1991 1
1994 1
1995 4
1996 2
1997 2
1998 1
1999 2
2000 2
2001 4
2002 5
2003 1
2004 6
2005 4
2006 6
2007 8
2008 2
2009 4
2010 6
2011 5
2012 8
2013 9
2014 8
2015 11
2016 7
2017 5
2018 10
2019 5
2020 8
2021 8
2022 12
2023 9
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

148 results

Results by year

Filters applied: . Clear all
Page 1
Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE. Kashtan CE. Am J Kidney Dis. 2021 Feb;77(2):272-279. doi: 10.1053/j.ajkd.2020.03.026. Epub 2020 Jul 22. Am J Kidney Dis. 2021. PMID: 32712016 Review.
Alport syndrome is a genetically and phenotypically heterogeneous disorder of glomerular, cochlear, and ocular basement membranes resulting from mutations in the collagen IV genes COL4A3, COL4A4, and COL4A5. Alport syndrome can be transmitted as an X-linked, autosomal …
Alport syndrome is a genetically and phenotypically heterogeneous disorder of glomerular, cochlear, and ocular basement membranes res …
Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1).
Thakker RV, Newey PJ, Walls GV, Bilezikian J, Dralle H, Ebeling PR, Melmed S, Sakurai A, Tonelli F, Brandi ML; Endocrine Society. Thakker RV, et al. J Clin Endocrinol Metab. 2012 Sep;97(9):2990-3011. doi: 10.1210/jc.2012-1230. Epub 2012 Jun 20. J Clin Endocrinol Metab. 2012. PMID: 22723327 Review.
PROCESS: Guidelines were developed by reviews of peer-reviewed publications; a draft was prepared, reviewed, and rigorously revised at several stages; and agreed-upon revisions were incorporated. CONCLUSIONS: MEN1 is an autosomal dominant disorder that is due …
PROCESS: Guidelines were developed by reviews of peer-reviewed publications; a draft was prepared, reviewed, and rigorously revised at sever …
Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment.
Kohut TJ, Gilbert MA, Loomes KM. Kohut TJ, et al. Semin Liver Dis. 2021 Nov;41(4):525-537. doi: 10.1055/s-0041-1730951. Epub 2021 Jul 2. Semin Liver Dis. 2021. PMID: 34215014 Review.
Alagille syndrome (ALGS) is an autosomal dominant disorder caused by pathogenic variants in JAG1 or NOTCH2, which encode fundamental components of the Notch signaling pathway. ...Medical management is supportive, focusing on clinical manifestations of disease …
Alagille syndrome (ALGS) is an autosomal dominant disorder caused by pathogenic variants in JAG1 or NOTCH2, which encod …
Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist's perspective.
Kritharis A, Al-Samkari H, Kuter DJ. Kritharis A, et al. Haematologica. 2018 Sep;103(9):1433-1443. doi: 10.3324/haematol.2018.193003. Epub 2018 May 24. Haematologica. 2018. PMID: 29794143 Free PMC article. Review.
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an autosomal dominant disorder that causes abnormal blood vessel formation. ...Anti-angiogenic agents such as bevacizumab have emerged as a promising systemic therapy …
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an autosomal dominant disorder …
Familial Hypercholesterolemia and Its Current Diagnostics and Treatment Possibilities: A Literature Analysis.
Zubielienė K, Valterytė G, Jonaitienė N, Žaliaduonytė D, Zabiela V. Zubielienė K, et al. Medicina (Kaunas). 2022 Nov 17;58(11):1665. doi: 10.3390/medicina58111665. Medicina (Kaunas). 2022. PMID: 36422206 Free PMC article. Review.
Familial hypercholesterolemia (FH) is a common, inherited disorder of cholesterol metabolism. This pathology is usually an autosomal dominant disorder and is caused by inherited mutations in the APOB, LDLR, and PCSK9 genes. ...Statins, ezetimibe, bile …
Familial hypercholesterolemia (FH) is a common, inherited disorder of cholesterol metabolism. This pathology is usually an autosom …
An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome.
Harhouri K, Frankel D, Bartoli C, Roll P, De Sandre-Giovannoli A, Lévy N. Harhouri K, et al. Nucleus. 2018 Jan 1;9(1):246-257. doi: 10.1080/19491034.2018.1460045. Nucleus. 2018. PMID: 29619863 Free PMC article. Review.
Hutchinson-Gilford progeria syndrome (HGPS) is a sporadic, autosomal dominant disorder characterized by premature and accelerated aging symptoms leading to death at the mean age of 14.6 years usually due to cardiovascular complications. ...
Hutchinson-Gilford progeria syndrome (HGPS) is a sporadic, autosomal dominant disorder characterized by premature and a …
Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Stewart DR, Korf BR, Nathanson KL, Stevenson DA, Yohay K. Stewart DR, et al. Genet Med. 2018 Jul;20(7):671-682. doi: 10.1038/gim.2018.28. Epub 2018 Apr 26. Genet Med. 2018. PMID: 30006586 Free article.
It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures. PURPOSE: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that is caused by a heterozygous loss-of …
It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedu …
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Holtz AM, VanCoillie R, Vansickle EA, Carere DA, Withrow K, Torti E, Juusola J, Millan F, Person R, Guillen Sacoto MJ, Si Y, Wentzensen IM, Pugh J, Vasileiou G, Rieger M, Reis A, Argilli E, Sherr EH, Aldinger KA, Dobyns WB, Brunet T, Hoefele J, Wagner M, Haber B, Kotzaeridou U, Keren B, Heron D, Mignot C, Heide S, Courtin T, Buratti J, Murugasen S, Donald KA, O'Heir E, Moody S, Kim KH, Burton BK, Yoon G, Campo MD, Masser-Frye D, Kozenko M, Parkinson C, Sell SL, Gordon PL, Prokop JW, Karaa A, Bupp C, Raby BA. Holtz AM, et al. Genet Med. 2022 Oct;24(10):2065-2078. doi: 10.1016/j.gim.2022.07.005. Epub 2022 Aug 18. Genet Med. 2022. PMID: 35980381 Free PMC article.
PURPOSE: Nonmuscle myosin II complexes are master regulators of actin dynamics that play essential roles during embryogenesis with vertebrates possessing 3 nonmuscle myosin II heavy chain genes, MYH9, MYH10, and MYH14. As opposed to MYH9 and MYH14, no recognizable disorder …
PURPOSE: Nonmuscle myosin II complexes are master regulators of actin dynamics that play essential roles during embryogenesis with vertebrat …
Evolution of genetic testing and gene therapy in hypertrophic cardiomyopathy.
Chiswell K, Zaininger L, Semsarian C. Chiswell K, et al. Prog Cardiovasc Dis. 2023 Sep-Oct;80:38-45. doi: 10.1016/j.pcad.2023.04.009. Epub 2023 May 1. Prog Cardiovasc Dis. 2023. PMID: 37137376 Review.
Studies over the last 30 years have identified hypertrophic cardiomyopathy (HCM) as predominantly an autosomal dominant disorder caused by disease-causing variants in genes encoding the sarcomere proteins critical for contractile function. ...This brief revie …
Studies over the last 30 years have identified hypertrophic cardiomyopathy (HCM) as predominantly an autosomal dominant dis …
Stratification in Heterozygous Familial Hypercholesterolemia: Imaging, Biomarkers, and Genetic Testing.
Corral P, Aguilar Salinas CA, Matta MG, Zago V, Schreier L. Corral P, et al. Curr Atheroscler Rep. 2023 Dec;25(12):899-909. doi: 10.1007/s11883-023-01160-9. Epub 2023 Nov 3. Curr Atheroscler Rep. 2023. PMID: 37921916 Review.
PURPOSE OF REVIEW: Heterozygous familial hypercholesterolemia (HeFH) is the most common monogenic autosomal dominant disorder. However, the condition is often underdiagnosed and undertreated. ...
PURPOSE OF REVIEW: Heterozygous familial hypercholesterolemia (HeFH) is the most common monogenic autosomal dominant disord …
148 results