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

Year Number of Results
1990 1
1992 1
1996 1
1999 1
2002 1
2003 1
2004 1
2005 1
2006 2
2007 3
2008 1
2009 1
2010 1
2011 3
2012 3
2013 1
2014 2
2015 5
2016 4
2018 4
2019 2
2020 3
2021 4
2022 3
2024 0

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43 results

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Page 1
Arrhythmogenic cardiomyopathy.
Pilichou K, Thiene G, Bauce B, Rigato I, Lazzarini E, Migliore F, Perazzolo Marra M, Rizzo S, Zorzi A, Daliento L, Corrado D, Basso C. Pilichou K, et al. Orphanet J Rare Dis. 2016 Apr 2;11:33. doi: 10.1186/s13023-016-0407-1. Orphanet J Rare Dis. 2016. PMID: 27038780 Free PMC article. Review.
A familial background consistent with an autosomal-dominant trait of inheritance is present in most of AC patients; recessive variants have also been reported, either or not associated with palmoplantar keratoderma and woolly hair. AC-causing genes mostly encode maj …
A familial background consistent with an autosomal-dominant trait of inheritance is present in most of AC patients; recessive variants have …
Syndromic diarrhea/Tricho-hepato-enteric syndrome.
Fabre A, Martinez-Vinson C, Goulet O, Badens C. Fabre A, et al. Orphanet J Rare Dis. 2013 Jan 9;8:5. doi: 10.1186/1750-1172-8-5. Orphanet J Rare Dis. 2013. PMID: 23302111 Free PMC article. Review.
The classical form is characterized by 5 clinical signs: intractable diarrhea of infancy beginning in the first month of life, usually leading to failure to thrive and requiring parenteral nutrition; facial dysmorphism characterised by prominent forehead and cheeks, broad nasal r …
The classical form is characterized by 5 clinical signs: intractable diarrhea of infancy beginning in the first month of life, usually leadi …
Trichoscopy in Hair Shaft Disorders.
Rudnicka L, Olszewska M, Waśkiel A, Rakowska A. Rudnicka L, et al. Dermatol Clin. 2018 Oct;36(4):421-430. doi: 10.1016/j.det.2018.05.009. Epub 2018 Aug 16. Dermatol Clin. 2018. PMID: 30201151 Review.
In trichorrhexis nodosa nodular thickenings along hairs shafts are visible (low magnification) or splitting into numerous small fibers along the hair shaft may be observed (high magnification). In trichorrhexis invaginata (bamboo hair) the hair shaft telescop …
In trichorrhexis nodosa nodular thickenings along hairs shafts are visible (low magnification) or splitting into numerous small fibers along …
Molecular genetics of alopecias.
Ramot Y, Zlotogorski A. Ramot Y, et al. Curr Probl Dermatol. 2015;47:87-96. doi: 10.1159/000369408. Epub 2015 Feb 20. Curr Probl Dermatol. 2015. PMID: 26370647 Review.
Special progress has been made in the field of genotrichoses, or hereditary hair diseases, a field that has been obscure for many years. The underlying genes for many of the monogenic hair diseases are now known. Additionally, complex analyses of large cohorts of pa …
Special progress has been made in the field of genotrichoses, or hereditary hair diseases, a field that has been obscure for many yea …
Alopecia in genetic diseases.
Calvieri S, Rossi A. Calvieri S, et al. G Ital Dermatol Venereol. 2014 Feb;149(1):1-13. G Ital Dermatol Venereol. 2014. PMID: 24566562 Review.
Congenital abnormalities of the hair shaft are conditions in most cases linked to chemical, biochemical, and morphological alterations, genetically determined. ...Within this disorder, two groups are classically identified: with increased fragility of the hair shaft …
Congenital abnormalities of the hair shaft are conditions in most cases linked to chemical, biochemical, and morphological alteration …
Naxos disease: from the origin to today.
Li GL, Saguner AM, Fontaine GH. Li GL, et al. Orphanet J Rare Dis. 2018 May 10;13(1):74. doi: 10.1186/s13023-018-0814-6. Orphanet J Rare Dis. 2018. PMID: 29747658 Free PMC article. Review.
It is associated with thickening of the skin of the hands and sole, and a propensity to woolly hair. The cardiac anomalies characterized by ventricular arrhythmias with ventricular extrasystoles and tachycardia and histologic features of the myocardium are consisten …
It is associated with thickening of the skin of the hands and sole, and a propensity to woolly hair. The cardiac anomalies cha …
Clinical and Molecular Aspects of Naxos Disease.
Protonotarios I, Asimaki A, Xylouri Z, Protonotarios A, Tsatsopoulou A. Protonotarios I, et al. Heart Fail Clin. 2022 Jan;18(1):89-99. doi: 10.1016/j.hfc.2021.07.010. Epub 2021 Oct 22. Heart Fail Clin. 2022. PMID: 34776086 Review.
Naxos disease is a recessively inherited pattern of arrhythmogenic cardiomyopathy with palmoplantar keratoderma and woolly hair. The causative mutation identified in plakoglobin protein gene indicated a potential role of the desmosomal protein complex as culprit for …
Naxos disease is a recessively inherited pattern of arrhythmogenic cardiomyopathy with palmoplantar keratoderma and woolly hair
Naxos disease - a narrative review.
Leopoulou M, Mattsson G, LeQuang JA, Pergolizzi JV, Varrassi G, Wallhagen M, Magnusson P. Leopoulou M, et al. Expert Rev Cardiovasc Ther. 2020 Nov;18(11):801-808. doi: 10.1080/14779072.2020.1828064. Epub 2020 Oct 8. Expert Rev Cardiovasc Ther. 2020. PMID: 32966140 Review.
INTRODUCTION: Naxos disease is a rare entity that manifests with woolly hair, keratosis of extremities, and cardiac manifestations that resemble arrhythmogenic right ventricular cardiomyopathy. ...
INTRODUCTION: Naxos disease is a rare entity that manifests with woolly hair, keratosis of extremities, and cardiac manifestat …
Update of recent findings in genetic hair disorders.
Hayashi R, Shimomura Y. Hayashi R, et al. J Dermatol. 2022 Jan;49(1):55-67. doi: 10.1111/1346-8138.16204. Epub 2021 Oct 21. J Dermatol. 2022. PMID: 34676598 Review.
Many patients have been detected with autosomal recessive woolly hair/hypotrichosis in the Japanese population caused by founder mutations in the LIPH gene. ...Understanding genetic hair disorders is essential for dermatologists, and the findings obtained fro …
Many patients have been detected with autosomal recessive woolly hair/hypotrichosis in the Japanese population caused by found …
Prognosis and Management of Congenital Hair Shaft Disorders with Fragility-Part I.
Singh G, Miteva M. Singh G, et al. Pediatr Dermatol. 2016 Sep;33(5):473-80. doi: 10.1111/pde.12894. Epub 2016 Jun 13. Pediatr Dermatol. 2016. PMID: 27292719 Review.
Hair shaft disorders are characterized by congenital or acquired abnormalities of the hair shaft. ...Gentle hair care is the mainstay of care for hair shaft disorders associated with fragility. ...
Hair shaft disorders are characterized by congenital or acquired abnormalities of the hair shaft. ...Gentle hair care i
43 results