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SHORT syndrome.
Koenig R, Brendel L, Fuchs S. Koenig R, et al. Clin Dysmorphol. 2003 Jan;12(1):45-9. doi: 10.1097/00019605-200301000-00008. Clin Dysmorphol. 2003. PMID: 12514365 Review.
We describe a mother and her son with short stature, progeroid facies, Rieger anomaly, teething delay, and mild developmental retardation, particularly speech delay, which are characteristic features of the SHORT syndrome. ...
We describe a mother and her son with short stature, progeroid facies, Rieger anomaly, teething delay, and mild developmental …
Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy.
Passarge E, Robinson PN, Graul-Neumann LM. Passarge E, et al. Eur J Hum Genet. 2016 Aug;24(9):1244-7. doi: 10.1038/ejhg.2016.6. Epub 2016 Feb 10. Eur J Hum Genet. 2016. PMID: 26860060 Free PMC article. Review.
A distinctive phenotype consisting of partial manifestations of Marfan syndrome, a progeroid facial appearance, and clinical features of lipodystrophy was present in all individuals. We suggest that this previously unknown genotype/phenotype relationship cons …
A distinctive phenotype consisting of partial manifestations of Marfan syndrome, a progeroid facial appearance, and cli …
Hallermann-Streiff syndrome: A missing molecular link for a highly recognizable syndrome.
Schmidt J, Wollnik B. Schmidt J, et al. Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):398-406. doi: 10.1002/ajmg.c.31668. Am J Med Genet C Semin Med Genet. 2018. PMID: 30580479 Review.
Clinically, patients with Hallermann-Streiff syndrome show typical craniofacial dysmorphism, eye malformations, a distinctive facial appearance, abnormalities of hair and skin, short stature, and, interestingly, they might also present with aspects of premature agin …
Clinically, patients with Hallermann-Streiff syndrome show typical craniofacial dysmorphism, eye malformations, a distinctive facial
Mulvihill-Smith syndrome: case report and review.
Bartsch O, Tympner KD, Schwinger E, Gorlin RJ. Bartsch O, et al. J Med Genet. 1994 Sep;31(9):707-11. doi: 10.1136/jmg.31.9.707. J Med Genet. 1994. PMID: 7815440 Free PMC article. Review.
We report a 20 year old man with short stature, microcephaly, unusual facies, numerous pigmented naevi, hypodontia, immunodeficiency, and a high pitched voice. ...We show here that the condition is identical to the Mulvihill-Smith syndrome (McKusick 176690), a progeroid
We report a 20 year old man with short stature, microcephaly, unusual facies, numerous pigmented naevi, hypodontia, immunodeficiency, …
Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature.
Mazereeuw-Hautier J, Wilson LC, Mohammed S, Smallwood D, Shackleton S, Atherton DJ, Harper JI. Mazereeuw-Hautier J, et al. Br J Dermatol. 2007 Jun;156(6):1308-14. doi: 10.1111/j.1365-2133.2007.07897.x. Epub 2007 Apr 25. Br J Dermatol. 2007. PMID: 17459035 Review.
Correlations between genotype and phenotype in children with progeroid syndromes are beginning to emerge. OBJECTIVES: To establish whether the LMNA p.G608G mutation is associated with a particular phenotype of HGPS. ...
Correlations between genotype and phenotype in children with progeroid syndromes are beginning to emerge. OBJECTIVES: To establish wh …