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

Year Number of Results
1953 1
1967 1
1968 2
1969 1
1971 2
1972 2
1973 1
1974 3
1975 6
1976 10
1977 4
1978 8
1979 8
1980 10
1981 16
1982 11
1983 7
1984 19
1985 24
1986 15
1987 12
1988 21
1989 24
1990 21
1991 26
1992 20
1993 45
1994 44
1995 53
1996 54
1997 55
1998 52
1999 53
2000 57
2001 44
2002 58
2003 72
2004 87
2005 86
2006 104
2007 119
2008 126
2009 117
2010 123
2011 161
2012 163
2013 185
2014 194
2015 185
2016 201
2017 209
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2019 224
2020 239
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2023 170
2024 86

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3,767 results

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Page 1
Ataxia-telangiectasia: recommendations for multidisciplinary treatment.
van Os NJH, Haaxma CA, van der Flier M, Merkus PJFM, van Deuren M, de Groot IJM, Loeffen J, van de Warrenburg BPC, Willemsen MAAP; A-T Study Group. van Os NJH, et al. Dev Med Child Neurol. 2017 Jul;59(7):680-689. doi: 10.1111/dmcn.13424. Epub 2017 Mar 20. Dev Med Child Neurol. 2017. PMID: 28318010 Free article. Review.
Ataxia-telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tail …
Ataxia-telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized by cerebellar ataxia, oculocutaneous te
Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management.
Amirifar P, Ranjouri MR, Lavin M, Abolhassani H, Yazdani R, Aghamohammadi A. Amirifar P, et al. Expert Rev Clin Immunol. 2020 Sep;16(9):859-871. doi: 10.1080/1744666X.2020.1810570. Epub 2020 Oct 15. Expert Rev Clin Immunol. 2020. PMID: 32791865 Review.
INTRODUCTION: Ataxia-telangiectasia (A-T) is a rare autosomal recessive syndrome characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, variable immunodeficiency, radiosensitivity, and cancer predisposition. Mutations cause A-T in the ataxia …
INTRODUCTION: Ataxia-telangiectasia (A-T) is a rare autosomal recessive syndrome characterized by progressive cerebellar ataxia, ocul …
Hereditary hemorrhagic telangiectasia (HHT): a practical guide to management.
Hammill AM, Wusik K, Kasthuri RS. Hammill AM, et al. Hematology Am Soc Hematol Educ Program. 2021 Dec 10;2021(1):469-477. doi: 10.1182/hematology.2021000281. Hematology Am Soc Hematol Educ Program. 2021. PMID: 34889398 Free PMC article.
Hereditary hemorrhagic telangiectasia (HHT), the second most common inherited bleeding disorder, is associated with the development of malformed blood vessels. Abnormal blood vessels may be small and cutaneous or mucosal (telangiectasia), with frequent complications …
Hereditary hemorrhagic telangiectasia (HHT), the second most common inherited bleeding disorder, is associated with the development o …
Clinical potential of ATM inhibitors.
Lavin MF, Yeo AJ. Lavin MF, et al. Mutat Res. 2020 May-Dec;821:111695. doi: 10.1016/j.mrfmmm.2020.111695. Epub 2020 Mar 6. Mutat Res. 2020. PMID: 32304909 Review.
The protein defective in the human genetic disorder ataxia-telangiectasia, ATM, plays a central role in responding to DNA double strand breaks and other lesions to protect the genome against DNA damage and in this way minimize the risk of mutations that can lead to abnorma …
The protein defective in the human genetic disorder ataxia-telangiectasia, ATM, plays a central role in responding to DNA double stra …
Schizencephaly in Hereditary Hemorrhagic Telangiectasia.
Gaines JJ, Gilbert BC, Gossage JR, Parker W, Reddy A, Forseen SE. Gaines JJ, et al. AJNR Am J Neuroradiol. 2022 Nov;43(11):1603-1607. doi: 10.3174/ajnr.A7677. Epub 2022 Oct 20. AJNR Am J Neuroradiol. 2022. PMID: 36265891 Free PMC article.
BACKGROUND AND PURPOSE: The presence of malformations of cortical development in patients with hereditary hemorrhagic telangiectasia has been reported on previous occasions. We evaluated a sample of adults with hereditary hemorrhagic telangiectasia for the presence …
BACKGROUND AND PURPOSE: The presence of malformations of cortical development in patients with hereditary hemorrhagic telangiectasia
Idiopathic macular telangiectasia.
Yannuzzi LA, Bardal AM, Freund KB, Chen KJ, Eandi CM, Blodi B. Yannuzzi LA, et al. Arch Ophthalmol. 2006 Apr;124(4):450-60. doi: 10.1001/archopht.124.4.450. Arch Ophthalmol. 2006. PMID: 16606869
New observations in groups 1 and 2 have expanded our knowledge of the clinical spectrum of these disorders. A simplified classification termed idiopathic macular telangiectasia with 2 distinct types (type I, or aneurysmal telangiectasia, and type II, or perifoveal …
New observations in groups 1 and 2 have expanded our knowledge of the clinical spectrum of these disorders. A simplified classification term …
Pulmonary vascular diseases.
Cummings KW, Bhalla S. Cummings KW, et al. Clin Chest Med. 2015 Jun;36(2):235-48, viii. doi: 10.1016/j.ccm.2015.02.007. Epub 2015 Mar 26. Clin Chest Med. 2015. PMID: 26024602 Review.
Hereditary Hemorrhagic Telangiectasia Management.
Peterson J. Peterson J. Radiol Technol. 2017 Jan;88(3):277-294. Radiol Technol. 2017. PMID: 28298578 Review.
Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder that can lead to frequent and severe sequelae. ...
Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder that can lead to frequent and severe sequelae. ...
Genetic counseling and testing for hereditary hemorrhagic telangiectasia.
Lam S, Guthrie KS, Latif MA, Weiss CR. Lam S, et al. Clin Genet. 2022 Mar;101(3):275-284. doi: 10.1111/cge.14050. Epub 2021 Aug 24. Clin Genet. 2022. PMID: 34415050 Review.
Genetic counseling is an important means of identifying a patient's genetic risk of hereditary hemorrhagic telangiectasia (HHT) and assisting patients in making informed decisions about their health. ...
Genetic counseling is an important means of identifying a patient's genetic risk of hereditary hemorrhagic telangiectasia (HHT) and a …
Comprehensive management of hereditary hemorrhagic telangiectasia.
Lupa MD, Wise SK. Lupa MD, et al. Curr Opin Otolaryngol Head Neck Surg. 2017 Feb;25(1):64-68. doi: 10.1097/MOO.0000000000000319. Curr Opin Otolaryngol Head Neck Surg. 2017. PMID: 27841771 Review.
PURPOSE OF REVIEW: Hereditary hemorrhagic telangiectasia (HHT), or Osler Weber-Rendu disease, is a rare inherited disorder of fibrovascular tissue affecting various organs. ...New pharmacologic therapies including bevacizumab (Avastin) used submucosally or topically have s …
PURPOSE OF REVIEW: Hereditary hemorrhagic telangiectasia (HHT), or Osler Weber-Rendu disease, is a rare inherited disorder of fibrova …
3,767 results