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Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function.
Puffenberger EG, Hu-Lince D, Parod JM, Craig DW, Dobrin SE, Conway AR, Donarum EA, Strauss KA, Dunckley T, Cardenas JF, Melmed KR, Wright CA, Liang W, Stafford P, Flynn CR, Morton DH, Stephan DA. Puffenberger EG, et al. Proc Natl Acad Sci U S A. 2004 Aug 10;101(32):11689-94. doi: 10.1073/pnas.0401194101. Epub 2004 Jul 23. Proc Natl Acad Sci U S A. 2004. PMID: 15273283 Free PMC article.
We have identified a lethal phenotype characterized by sudden infant death (from cardiac and respiratory arrest) with dysgenesis of the testes in males [Online Mendelian Inheritance in Man (OMIM) accession no. 608800]. ...
We have identified a lethal phenotype characterized by sudden infant death (from cardiac and respiratory arrest) with …
Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report.
Slater B, Glinton K, Dai H, Lay E, Karaviti L, Mizerik E, Murali CN, Lalani SR, Bacino CA, Rossetti LZ. Slater B, et al. Am J Med Genet A. 2020 Nov;182(11):2751-2754. doi: 10.1002/ajmg.a.61842. Epub 2020 Sep 4. Am J Med Genet A. 2020. PMID: 32885560
Sudden Infant Death with Dysgenesis of the Testes syndrome (SIDDT) is a very rare condition associated with biallelic pathogenic variants in the TSPYL1 gene first reported in 2004. ...These features have not previously been reported in
Sudden Infant Death with Dysgenesis of the Testes syndrome (SIDDT) is a very rare condition associ
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.
Mazel B, Mallet D, Roucher-Boulez F, Signor CB, Bournez M, Darmency V, Bourgeois V, Poe C, El Khabbaz F, Vitobello A, Philippe C, Duffourd Y, Thauvin-Robinet C, Faivre L, Nambot S. Mazel B, et al. Am J Med Genet A. 2022 Dec;188(12):3540-3545. doi: 10.1002/ajmg.a.62966. Epub 2022 Sep 9. Am J Med Genet A. 2022. PMID: 36082874
Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare autosomal recessive disorder associating developmental sex disorder (DSD) in patients with 46,XY karyotype and visceroautonomic dysfunction responsible for su
Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare autosomal recessive d
Genetic investigation of the TSPYL1 gene in sudden infant death syndrome.
Hering R, Frade-Martinez R, Bajanowski T, Poets CF, Tschentscher F, Riess O. Hering R, et al. Genet Med. 2006 Jan;8(1):55-8. doi: 10.1097/01.gim.0000195898.15290.03. Genet Med. 2006. PMID: 16418600 Free article.
BACKGROUND: Sudden infant death syndrome (SIDS) constitutes the most frequent cause of death in the postperinatal period in Germany. Recently, a lethal phenotype characterized by sudden infant death with dysgenesis of the testes
BACKGROUND: Sudden infant death syndrome (SIDS) constitutes the most frequent cause of death in the postperinatal perio …
Variants in TSPYL1 are not associated with sudden infant death syndrome in a cohort of deceased infants from Switzerland.
Schubert S, Haas C, Bartsch C, Mirshekarnejad M, Kohrs S, Roettinger I, Grosshennig A, Stuhrmann M, Scholz C, Schmidtke J. Schubert S, et al. Mol Cell Probes. 2015 Feb;29(1):31-4. doi: 10.1016/j.mcp.2014.10.006. Epub 2014 Nov 4. Mol Cell Probes. 2015. PMID: 25449952
Sudden infant death syndrome (SIDS) is currently the major cause of an unexpected and unexplained death of infants in the first year of lifetime in industrialized countries. ...Notably, the mutation c.457dupG (p.Glu153Glyfs*17) in the TSPYL1 gene has been rep
Sudden infant death syndrome (SIDS) is currently the major cause of an unexpected and unexplained death of infants in t
Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.
Abualsaud D, Hashem M, AlHashem A, Alkuraya FS. Abualsaud D, et al. Am J Med Genet A. 2021 Sep;185(9):2789-2800. doi: 10.1002/ajmg.a.61876. Epub 2020 Sep 19. Am J Med Genet A. 2021. PMID: 32949114
We also highlight how certain disorders are under-recognized despite their established DSD phenotype in OMIM, especially CTU2-related DREAM-PL syndrome and TSPYL1-related sudden infant death with dysgenesis of the testes syndrome. In conclusion, …
We also highlight how certain disorders are under-recognized despite their established DSD phenotype in OMIM, especially CTU2-related DREAM- …
Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studies.
Pearson JV, Huentelman MJ, Halperin RF, Tembe WD, Melquist S, Homer N, Brun M, Szelinger S, Coon KD, Zismann VL, Webster JA, Beach T, Sando SB, Aasly JO, Heun R, Jessen F, Kolsch H, Tsolaki M, Daniilidou M, Reiman EM, Papassotiropoulos A, Hutton ML, Stephan DA, Craig DW. Pearson JV, et al. Am J Hum Genet. 2007 Jan;80(1):126-39. doi: 10.1086/510686. Epub 2006 Dec 6. Am J Hum Genet. 2007. PMID: 17160900 Free PMC article.
Finally, we apply these methods to experimental case-control data and demonstrate successful identification of published genetic susceptibility loci for a rare monogenic disease (sudden infant death with dysgenesis of the testes syndrome), a rar …
Finally, we apply these methods to experimental case-control data and demonstrate successful identification of published genetic susceptibil …