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

Year Number of Results
1982 1
1985 1
1987 2
1988 2
1989 2
1992 1
1993 2
1995 1
1996 5
1998 2
1999 3
2000 3
2001 3
2002 4
2003 7
2004 2
2005 5
2006 6
2007 2
2008 6
2009 4
2010 3
2011 3
2012 7
2013 7
2014 4
2015 6
2016 7
2017 5
2018 3
2019 6
2020 6
2021 3
2022 6
2023 6
2024 2

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117 results

Results by year

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Page 1
Ichthyosis.
Gutiérrez-Cerrajero C, Sprecher E, Paller AS, Akiyama M, Mazereeuw-Hautier J, Hernández-Martín A, González-Sarmiento R. Gutiérrez-Cerrajero C, et al. Nat Rev Dis Primers. 2023 Jan 19;9(1):2. doi: 10.1038/s41572-022-00412-3. Nat Rev Dis Primers. 2023. PMID: 36658199 Review.
The characteristic clinical features are considered to be a homeostatic attempt to repair the skin barrier, but heterogeneous clinical presentation and imperfect phenotype-genotype correlation hinder diagnosis. An accurate molecular diagnosis is, however, crucial for predictin …
The characteristic clinical features are considered to be a homeostatic attempt to repair the skin barrier, but heterogeneous clinical prese …
ROSAH syndrome mimicking chronic uveitis.
Fardeau C, Alafaleq M, Dhaenens CM, Dollfus H, Koné-Paut I, Grunewald O, Morel JB, Titah C, Saadoun D, Lazeran PO, Meunier I. Fardeau C, et al. Clin Genet. 2023 Apr;103(4):453-458. doi: 10.1111/cge.14286. Epub 2022 Dec 30. Clin Genet. 2023. PMID: 36543582
Molecular Pathogenesis of Central and Peripheral Nervous System Complications in Anderson-Fabry Disease.
Tuttolomondo A, Baglio I, Riolo R, Todaro F, Parrinello G, Miceli S, Simonetta I. Tuttolomondo A, et al. Int J Mol Sci. 2023 Dec 20;25(1):61. doi: 10.3390/ijms25010061. Int J Mol Sci. 2023. PMID: 38203231 Free PMC article. Review.
The management of Fabry disease may be improved by the identification of biomarkers that reflect the clinical course, severity, and progression of the disease. Intensive research on biomarkers has been conducted over the years to detect novel markers that may potentially b …
The management of Fabry disease may be improved by the identification of biomarkers that reflect the clinical course, severity, and p …
Harlequin sign in Pancoast tumor.
Kumar R, Bhandari S, Kloecker GH. Kumar R, et al. Curr Probl Cancer. 2020 Apr;44(2):100506. doi: 10.1016/j.currproblcancer.2019.100506. Epub 2019 Nov 1. Curr Probl Cancer. 2020. PMID: 31732238 No abstract available.
Psychological aspects of hypohidrotic ectodermal dysplasia.
Tanner BA. Tanner BA. Birth Defects Orig Artic Ser. 1988;24(2):263-75. Birth Defects Orig Artic Ser. 1988. PMID: 3052620 Review.
A small number of adults with HED have been reported to hold a relatively wide range of jobs, and an even smaller number have been reported with educational and occupational achievement that is predictive of bright average to superior intellectual functioning, but even les …
A small number of adults with HED have been reported to hold a relatively wide range of jobs, and an even smaller number have been reported …
Chronic idiopathic anhidrosis.
Low PA, Fealey RD, Sheps SG, Su WP, Trautmann JC, Kuntz NL. Low PA, et al. Ann Neurol. 1985 Sep;18(3):344-8. doi: 10.1002/ana.410180312. Ann Neurol. 1985. PMID: 4051460
Chronic idiopathic anhidrosis appears to be distinctly different from other autonomic neuropathies that tend to carry much poorer prognoses....
Chronic idiopathic anhidrosis appears to be distinctly different from other autonomic neuropathies that tend to carry much poorer prognos …
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.
Loh AYT, Špoljar S, Neo GYW, Escande-Beillard N, Leushacke M, Luijten MNH, Venkatesh B, Bonnard C, van Steensel MAM, Hamm H, Carmichael A, Rajan N, Carney TJ, Reversade B. Loh AYT, et al. Am J Med Genet A. 2022 Jun;188(6):1752-1760. doi: 10.1002/ajmg.a.62703. Epub 2022 Feb 25. Am J Med Genet A. 2022. PMID: 35212137
Two novel monoallelic germline mutations were identified which are predicted to disrupt the first exon-intron boundary of the skin-specific SMARCAD1 isoform. ...
Two novel monoallelic germline mutations were identified which are predicted to disrupt the first exon-intron boundary of the skin-sp …
117 results