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Page 1
Singleton-Merten syndrome: A rare cause of femoral head necrosis.
Assaf E, Bdeir M, Mohs E, Dally FJ, Gravius S, Weis CA, Darwich A. Assaf E, et al. Am J Med Genet A. 2021 Oct;185(10):3170-3175. doi: 10.1002/ajmg.a.62395. Epub 2021 Jun 30. Am J Med Genet A. 2021. PMID: 34189824
Singleton-Merten syndrome (SMS) is a type I interferonopathy. In this report, we disclose the first-to the best of our knowledge-direct association of SMS with femoral head necrosis (FHN). ...
Singleton-Merten syndrome (SMS) is a type I interferonopathy. In this report, we disclose the first-to the best of our knowledge-dire …
Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.
Al-Dewik N, Mohd H, Al-Mureikhi M, Ali R, Al-Mesaifri F, Mahmoud L, Shahbeck N, El-Akouri K, Almulla M, Al Sulaiman R, Musa S, Al-Marri AA, Richard G, Juusola J, Solomon BD, Alkuraya FS, Ben-Omran T. Al-Dewik N, et al. Am J Med Genet A. 2019 Jun;179(6):927-935. doi: 10.1002/ajmg.a.61126. Epub 2019 Mar 27. Am J Med Genet A. 2019. PMID: 30919572 Free PMC article.
METHODS: This is a retrospective series of 509 probands from Qatar who underwent singleton or trio CES either as a reflex or naive (first-tier) test from April 2014 to December 2016 for various clinical indications. ...
METHODS: This is a retrospective series of 509 probands from Qatar who underwent singleton or trio CES either as a reflex or naive (f …
Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis.
Goel N, Morris JK, Tucker D, de Walle HEK, Bakker MK, Kancherla V, Marengo L, Canfield MA, Kallen K, Lelong N, Camelo JL, Stallings EB, Jones AM, Nance A, Huynh MP, Martínez-Fernández ML, Sipek A, Pierini A, Nembhard WN, Goetz D, Rissmann A, Groisman B, Luna-Muñoz L, Szabova E, Lapchenko S, Zarante I, Hurtado-Villa P, Martinez LE, Tagliabue G, Landau D, Gatt M, Dastgiri S, Morgan M. Goel N, et al. Am J Med Genet A. 2019 Dec;179(12):2382-2392. doi: 10.1002/ajmg.a.61365. Epub 2019 Sep 30. Am J Med Genet A. 2019. PMID: 31566869 Free PMC article.
Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.
Pettersson M, Bergendal B, Norderyd J, Nilsson D, Anderlid BM, Nordgren A, Lindstrand A. Pettersson M, et al. Am J Med Genet A. 2017 May;173(5):1396-1399. doi: 10.1002/ajmg.a.38214. Epub 2017 Mar 20. Am J Med Genet A. 2017. PMID: 28319323
Here, we present a mother and daughter with Singleton-Merten syndrome harboring a previously described pathogenic missense mutation, c.2465G>A p....In addition, we expand the Singleton-Merten phenotype by adding severe systemic lupus erythematosus (SLE) to the cl …
Here, we present a mother and daughter with Singleton-Merten syndrome harboring a previously described pathogenic missense mutation, …
A novel pathogenic variant p.Asp797Val in IFIH1 in a Japanese boy with overlapping Singleton-Merten syndrome and Aicardi-Goutieres syndrome.
Hasegawa K, Tanaka H, Futagawa N, Miyahara H, Higuchi Y, Tsukahara H. Hasegawa K, et al. Am J Med Genet A. 2022 Jan;188(1):249-252. doi: 10.1002/ajmg.a.62478. Epub 2021 Aug 28. Am J Med Genet A. 2022. PMID: 34453469 Free article.
Pathogenic-activating variants of interferon induced with Helicase C domain 1 (IFIH1) cause Singleton-Merten (S-M) syndrome, which accompanies acro-osteolysis, loss of permanent teeth, and aortic calcification, as well as causing Aicardi-Goutieres (A-G) syndrome, which sho …
Pathogenic-activating variants of interferon induced with Helicase C domain 1 (IFIH1) cause Singleton-Merten (S-M) syndrome, which ac …
Laminoplasty in Motion: Evolving Techniques and Complications.
Singleton IM, Piple AS, Crawford B, Mittal A, Rosinski AA, Kondrashov DG. Singleton IM, et al. J Neurol Surg A Cent Eur Neurosurg. 2024 Mar;85(2):171-181. doi: 10.1055/s-0043-1769005. Epub 2023 Jul 28. J Neurol Surg A Cent Eur Neurosurg. 2024. PMID: 37506744 Review.
Consecutive medical exome analysis at a tertiary center: Diagnostic and health-economic outcomes.
Kosaki R, Kubota M, Uehara T, Suzuki H, Takenouchi T, Kosaki K. Kosaki R, et al. Am J Med Genet A. 2020 Jul;182(7):1601-1607. doi: 10.1002/ajmg.a.61589. Epub 2020 May 5. Am J Med Genet A. 2020. PMID: 32369273
The present study demonstrated a high diagnostic yield (47.5%) for singleton medical exome analysis as a first-tier test in a real-life setting. Medical exome analysis yielded clinically relevant information in a quarter of the total patient cohort. ...
The present study demonstrated a high diagnostic yield (47.5%) for singleton medical exome analysis as a first-tier test in a real-li …
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
Dawood M, Akay G, Mitani T, Marafi D, Fatih JM, Gezdirici A, Najmabadi H, Kahrizi K, Punetha J, Grochowski CM, Du H, Jolly A, Li H, Coban-Akdemir Z, Sedlazeck FJ, Hunter JV, Jhangiani SN, Muzny D, Pehlivan D, Posey JE, Carvalho CMB, Gibbs RA, Lupski JR. Dawood M, et al. Am J Med Genet A. 2023 Mar;191(3):794-804. doi: 10.1002/ajmg.a.63080. Epub 2023 Jan 4. Am J Med Genet A. 2023. PMID: 36598158 Free PMC article.
57 results