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Quoted phrase not found in phrase index: "Adams-Oliver syndrome 3"
Page 1
Adams-Oliver syndrome revisited.
Whitley CB, Gorlin RJ. Whitley CB, et al. Am J Med Genet. 1991 Sep 1;40(3):319-26. doi: 10.1002/ajmg.1320400315. Am J Med Genet. 1991. PMID: 1951437 Review.
The occurrence of Adams-Oliver syndrome in a patient from the same geographic area as the first reported kindred led to follow-up of the original family, and to a survey of the literature. ...Despite a phenotypic resemblance to isolated aplasia cutis congenit …
The occurrence of Adams-Oliver syndrome in a patient from the same geographic area as the first reported kindred led to …
Syndromes, disorders and maternal risk factors associated with neural tube defects (V).
Chen CP. Chen CP. Taiwan J Obstet Gynecol. 2008 Sep;47(3):259-66. doi: 10.1016/S1028-4559(08)60122-9. Taiwan J Obstet Gynecol. 2008. PMID: 18935987 Free article. Review.
This article provides a comprehensive review of the syndromes and disorders associated with NTDs, including Pallister-Hall syndrome, Walker-Warburg syndrome and Fukuyama congenital muscular dystrophy, MURCS association, Roberts syndrome, cerebro-costo-mandibular syndrome, lateral …
This article provides a comprehensive review of the syndromes and disorders associated with NTDs, including Pallister-Hall syndrome, Walker- …
Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.
Cohen I, Silberstein E, Perez Y, Landau D, Elbedour K, Langer Y, Kadir R, Volodarsky M, Sivan S, Narkis G, Birk OS. Cohen I, et al. Eur J Hum Genet. 2014 Mar;22(3):374-8. doi: 10.1038/ejhg.2013.159. Epub 2013 Jul 17. Eur J Hum Genet. 2014. PMID: 23860037 Free PMC article.
Autosomal recessive Adams-Oliver syndrome was diagnosed in three remotely related Bedouin consanguineous families. Genome-wide linkage analysis ruled out association with known Adams-Oliver syndrome genes, identifying a single-homozygosit …
Autosomal recessive Adams-Oliver syndrome was diagnosed in three remotely related Bedouin consanguineous families. Geno …
Severe phenotype in two half-sibs with Adams Oliver syndrome.
Sevilla-Montoya R, Ríos-Flores B, Moreno-Verduzco E, Domínguez-Castro M, Rivera-Pedroza CI, Aguinaga-Ríos DM. Sevilla-Montoya R, et al. Arch Argent Pediatr. 2014 Jun;112(3):e108-12. doi: 10.5546/aap.2014.eng.e108. Arch Argent Pediatr. 2014. PMID: 24862819 Free article. English, Spanish.
Adams Oliver syndrome (AOS) is a highly variable entity with terminal transverse limb defects (TTLD) and aplasia cutis congenita (ACC) with a wide phenotypic spectrum. ...Autosomal dominant inheritance with reduced penetrance or gonadal mosaicism has to be co
Adams Oliver syndrome (AOS) is a highly variable entity with terminal transverse limb defects (TTLD) and aplasia cutis
Born in the Purple: An Exceptional Case of Cutis Marmorata Telangiectatica Congenita.
Kyriakou G, Gialeli E, Vryzaki E, Georgiou S. Kyriakou G, et al. Acta Dermatovenerol Croat. 2020 Dec;28(4):247-248. Acta Dermatovenerol Croat. 2020. PMID: 33835001
A full-term, 2-day-old female neonate with a congenital non-tender reticular patch that did not disappear with local warming was referred to our department for consultation. The family history as well as the antenatal course and delivery were unremarkable. On examination, …
A full-term, 2-day-old female neonate with a congenital non-tender reticular patch that did not disappear with local warming was referred to …
Novel copy number variants and major limb reduction malformation: Report of three cases.
Shamseldin HE, Anazi S, Wakil SM, Faqeih E, El Khashab HY, Salih MA, Al-Qattan MM, Hashem M, Alsedairy H, Alkuraya FS. Shamseldin HE, et al. Am J Med Genet A. 2016 May;170A(5):1245-50. doi: 10.1002/ajmg.a.37550. Epub 2016 Jan 8. Am J Med Genet A. 2016. PMID: 26749485
Limb reduction malformations are highly heterogeneous in their clinical presentation and so, predicting the underlying mutation on a clinical basis can be challenging. ...
Limb reduction malformations are highly heterogeneous in their clinical presentation and so, predicting the underlying mutation on a …
Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case report.
Fayol L, Garcia P, Denis D, Philip N, Simeoni U. Fayol L, et al. Am J Perinatol. 2006 Apr;23(3):197-200. doi: 10.1055/s-2006-934099. Epub 2006 Mar 29. Am J Perinatol. 2006. PMID: 16586236
A female infant presented with Adams-Oliver syndrome (AOS), intrauterine growth retardation, severe cutis marmorata telangiectatica congenita, bilateral congenital cataract, and periventricular lesions. The here-reported association of bilateral congenital ca …
A female infant presented with Adams-Oliver syndrome (AOS), intrauterine growth retardation, severe cutis marmorata tel …
Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome.
Patel MS, Taylor GP, Bharya S, Al-Sanna'a N, Adatia I, Chitayat D, Suzanne Lewis ME, Human DG. Patel MS, et al. Am J Med Genet A. 2004 Sep 1;129A(3):294-9. doi: 10.1002/ajmg.a.30221. Am J Med Genet A. 2004. PMID: 15326631
Adams-Oliver syndrome (AOS) consists of congenital scalp defects with variable limb defects of unknown pathogenesis. ...
Adams-Oliver syndrome (AOS) consists of congenital scalp defects with variable limb defects of unknown pathogenesis. ..