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

Year Number of Results
1960 2
1977 1
1979 1
1990 1
1992 1
1995 1
1999 3
2009 1
2011 2
2013 1
2017 2
2024 0

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PubMed (cited) for id: 612289

16 results

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Page 1
De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.
Writzl K, Maver A, Kovačič L, Martinez-Valero P, Contreras L, Satrustegui J, Castori M, Faivre L, Lapunzina P, van Kuilenburg ABP, Radović S, Thauvin-Robinet C, Peterlin B, Del Arco A, Hennekam RC. Writzl K, et al. Am J Hum Genet. 2017 Nov 2;101(5):844-855. doi: 10.1016/j.ajhg.2017.09.017. Am J Hum Genet. 2017. PMID: 29100094 Free PMC article.
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, Scaglia F, Kilic E, Hennig AF, Adolphs N, Saha N, Fauler B, Kalscheuer VM, Hennig F, Altmüller J, Netzer C, Thiele H, Nürnberg P, Yigit G, Jäger M, Hecht J, Krüger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, Wollnik B, Fischer-Zirnsak B, Kornak U. Ehmke N, et al. Am J Hum Genet. 2017 Nov 2;101(5):833-843. doi: 10.1016/j.ajhg.2017.09.016. Am J Hum Genet. 2017. PMID: 29100093 Free PMC article.
Two sisters resembling Gorlin-Chaudhry-Moss syndrome.
Aravena T, Passalacqua C, Pizarro O, Aracena M. Aravena T, et al. Am J Med Genet A. 2011 Oct;155A(10):2552-5. doi: 10.1002/ajmg.a.34204. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910232
Diagnosis of progeria syndrome is the only one possible.
Rodriguez JI, Perez-Alonso P. Rodriguez JI, et al. Am J Med Genet. 1999 Dec 22;87(5):453-4. doi: 10.1002/(sici)1096-8628(19991222)87:5<453::aid-ajmg17>3.0.co;2-h. Am J Med Genet. 1999. PMID: 10594889 No abstract available.
Can Hutchinson-Gilford progeria syndrome be a neonatal condition?
Faivre L, Khau Van Kien P, Madinier-Chappat N, Nivelon-Chevallier A, Beer F, LeMerrer M. Faivre L, et al. Am J Med Genet. 1999 Dec 22;87(5):450-2; author reply 453-4. doi: 10.1002/(sici)1096-8628(19991222)87:5<450::aid-ajmg16>3.0.co;2-t. Am J Med Genet. 1999. PMID: 10594888 No abstract available.
16 results