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Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).
Keppler-Noreuil KM, Adam MP, Welch J, Muilenburg A, Willing MC. Keppler-Noreuil KM, et al. Am J Med Genet A. 2011 May;155A(5):1021-32. doi: 10.1002/ajmg.a.33892. Epub 2011 Apr 4. Am J Med Genet A. 2011. PMID: 21465651 Review.
Jeune syndrome, originally described as asphyxiating thoracic dystrophy by Jeune et al. ...We present eight patients, including two brothers with Jeune syndrome, and an extensive review of 118 cases in the published literature with
Jeune syndrome, originally described as asphyxiating thoracic dystrophy by Jeune et al. ...We present eig
Hepatic manifestations of Jeune syndrome (asphyxiating thoracic dystrophy).
Yerian LM, Brady L, Hart J. Yerian LM, et al. Semin Liver Dis. 2003 May;23(2):195-200. doi: 10.1055/s-2003-39950. Semin Liver Dis. 2003. PMID: 12800072 Review.
Asphyxiating thoracic dystrophy, or Jeune syndrome, is an autosomal recessive skeletal dysplasia with multiorgan involvement. ...We present a discussion of the gross and histopathologic findings in the explanted liver, along with a review of the
Asphyxiating thoracic dystrophy, or Jeune syndrome, is an autosomal recessive skeletal dysplasia with mul
Glomerulocystic kidney disease--nosological considerations.
Bernstein J. Bernstein J. Pediatr Nephrol. 1993 Aug;7(4):464-70. doi: 10.1007/BF00857576. Pediatr Nephrol. 1993. PMID: 8398663 Review.
Glomerulocystic kidneys can be categorized into three major groups: (1) glomerulocystic kidney disease, comprising nonsyndromal heritable and sporadic forms of severely cystic kidneys in children and adults, (2) glomerulocystic kidneys in heritable malformation syndromes, …
Glomerulocystic kidneys can be categorized into three major groups: (1) glomerulocystic kidney disease, comprising nonsyndromal heritable an …
Cardiac malformation in two infants with hypochondrogenesis.
Potocki L, Abuelo DN, Oyer CE. Potocki L, et al. Am J Med Genet. 1995 Nov 20;59(3):295-9. doi: 10.1002/ajmg.1320590306. Am J Med Genet. 1995. PMID: 8599352 Review.
Defects in cardiac septation were noted in the 2 patients with hypochondrogenesis. No cardiovascular abnormalities were present in the remaining cases, which included thanatophoric dysplasia, osteogenesis imperfecta, and asphyxiating thoracic dystrophy
Defects in cardiac septation were noted in the 2 patients with hypochondrogenesis. No cardiovascular abnormalities were present in th …