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
1993 1
1995 1
1996 1
1997 1
1998 1
1999 1
2002 1
2006 1
2008 2
2009 1
2010 1
2011 1
2012 2
2013 3
2014 5
2015 1
2016 1
2017 2
2018 5
2019 1
2020 1
2021 1
2022 3
2023 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

34 results

Results by year

Filters applied: . Clear all
Page 1
Microphthalmia with Linear Skin Defects Syndrome.
Morleo M, Franco B. Morleo M, et al. 2009 Jun 18 [updated 2018 Jul 26]. 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. 2009 Jun 18 [updated 2018 Jul 26]. 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: 20301767 Free Books & Documents. Review.
Microphthalmia with linear skin defects syndrome (MIDAS).
Banganho D, Oliveira I, Machado C, Póvoas M. Banganho D, et al. BMJ Case Rep. 2019 Apr 23;12(4):e227791. doi: 10.1136/bcr-2018-227791. BMJ Case Rep. 2019. PMID: 31015240 Free PMC article. No abstract available.
Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation pattern.
Ogata T, Wakui K, Muroya K, Ohashi H, Matsuo N, Brown DM, Ishii T, Fukushima Y. Ogata T, et al. Hum Genet. 1998 Jul;103(1):51-6. doi: 10.1007/s004390050782. Hum Genet. 1998. PMID: 9737776 Review.
This paper describes a female infant with microphthalmia with linear skin defects syndrome (MLS) and monosomy for the Xp22 region. ...
This paper describes a female infant with microphthalmia with linear skin defects syndrome (MLS) a …
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11.
Rea G, Homfray T, Till J, Roses-Noguer F, Buchan RJ, Wilkinson S, Wilk A, Walsh R, John S, McKee S, Stewart FJ, Murday V, Taylor RW, Ashworth M, Baksi AJ, Daubeney P, Prasad S, Barton PJR, Cook SA, Ware JS. Rea G, et al. Cold Spring Harb Mol Case Stud. 2017 Jan;3(1):a001271. doi: 10.1101/mcs.a001271. Cold Spring Harb Mol Case Stud. 2017. PMID: 28050600 Free PMC article.
Variants in NDUFB11, which encodes a structural component of complex I of the mitochondrial respiratory chain (MRC), were recently independently reported to cause histiocytoid cardiomyopathy (histiocytoid CM) and microphthalmia with linear skin defe …
Variants in NDUFB11, which encodes a structural component of complex I of the mitochondrial respiratory chain (MRC), were recently independe …
A mosaic form of microphthalmia with linear skin defects.
Prepeluh N, Korpar B, Zagorac A, Zagradišnik B, Golub A, Kokalj Vokač N. Prepeluh N, et al. BMC Pediatr. 2018 Aug 1;18(1):254. doi: 10.1186/s12887-018-1234-4. BMC Pediatr. 2018. PMID: 30068298 Free PMC article.
Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome.
Franco E, Scanga HL, Nischal KK. Franco E, et al. Am J Med Genet A. 2023 Feb;191(2):586-591. doi: 10.1002/ajmg.a.63043. Epub 2022 Nov 11. Am J Med Genet A. 2023. PMID: 36369709
To describe the anterior segment (AS) findings in patients with microphthalmia with linear skin defects syndrome (MLS), also known as microphthalmia, dermal aplasia, and sclerocornea (MIDAS). ...
To describe the anterior segment (AS) findings in patients with microphthalmia with linear skin defects …
Microphthalmia with linear skin defects syndrome.
García-Rabasco A, De-Unamuno B, Martínez F, Febrer-Bosch I, Alegre-de-Miquel V. García-Rabasco A, et al. Pediatr Dermatol. 2013 Nov-Dec;30(6):e230-1. doi: 10.1111/j.1525-1470.2012.01735.x. Epub 2012 May 21. Pediatr Dermatol. 2013. PMID: 22612277
Linear skin defects and microphthalmia.
Durack A, Mehta SG, Allen LE, Ozanic Bulic S, Burrows NP. Durack A, et al. Clin Exp Dermatol. 2018 Oct;43(7):860-862. doi: 10.1111/ced.13638. Epub 2018 Jun 12. Clin Exp Dermatol. 2018. PMID: 29896851 No abstract available.
Microphthalmia with linear skin defects: a case report and review.
Sharma VM, Ruiz de Luzuriaga AM, Waggoner D, Greenwald M, Stein SL. Sharma VM, et al. Pediatr Dermatol. 2008 Sep-Oct;25(5):548-52. doi: 10.1111/j.1525-1470.2008.00724.x. Pediatr Dermatol. 2008. PMID: 18950397 Review.
Microphthalmia with linear skin defects syndrome is an X-linked dominant disorder characterized by microphthalmia and other ocular anomalies as well as linear, jagged skin defects typically involving the scalp, face, neck, and upper trunk …
Microphthalmia with linear skin defects syndrome is an X-linked dominant disorder characterized by …
34 results