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Page 1
Teratogen update: methotrexate.
Hyoun SC, Običan SG, Scialli AR. Hyoun SC, et al. Birth Defects Res A Clin Mol Teratol. 2012 Apr;94(4):187-207. doi: 10.1002/bdra.23003. Epub 2012 Mar 20. Birth Defects Res A Clin Mol Teratol. 2012. PMID: 22434686 Review.
Based on human case reports of methotrexate exposure during pregnancy, a methotrexate embryopathy has been described that includes growth deficiency, microcephaly, hypoplasia of skull bones, wide fontanels, coronal or lambdoidal craniosynostosis, upswept frontal scalp hair, broad …
Based on human case reports of methotrexate exposure during pregnancy, a methotrexate embryopathy has been described that includes growth de …
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.
Zweier C, Rittinger O, Bader I, Berland S, Cole T, Degenhardt F, Di Donato N, Graul-Neumann L, Hoyer J, Lynch SA, Vlasak I, Wieczorek D. Zweier C, et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):290-301. doi: 10.1002/ajmg.c.31408. Epub 2014 Aug 5. Am J Med Genet C Semin Med Genet. 2014. PMID: 25099957 Review.
Recently, de novo aberrations in PHF6 were identified in females with intellectual disability and with a distinct phenotype including a characteristic facial gestalt with bitemporal narrowing, prominent supraorbital ridges, synophrys, a short nose and dental …
Recently, de novo aberrations in PHF6 were identified in females with intellectual disability and with a distinct phenotype including a char …
The Development of the Calvarial Bones and Sutures and the Pathophysiology of Craniosynostosis.
Ishii M, Sun J, Ting MC, Maxson RE. Ishii M, et al. Curr Top Dev Biol. 2015;115:131-56. doi: 10.1016/bs.ctdb.2015.07.004. Epub 2015 Oct 1. Curr Top Dev Biol. 2015. PMID: 26589924 Review.
The frontal and parietal bones develop from osteogenic rudiments in the supraorbital ridge. The coronal suture develops from a group of Shh-responsive cells in the head mesoderm that are collocated, with the osteogenic precursors, in the supraorbital ridge
The frontal and parietal bones develop from osteogenic rudiments in the supraorbital ridge. The coronal suture develops from a …
The ophthalmologic manifestations of the cardio-facio-cutaneous syndrome.
Young TL, Ziylan S, Schaffer DB. Young TL, et al. J Pediatr Ophthalmol Strabismus. 1993 Jan-Feb;30(1):48-52. doi: 10.3928/0191-3913-19930101-12. J Pediatr Ophthalmol Strabismus. 1993. PMID: 8455127 Review.
Combining the 18 previously reported cases with our additional 3, 9 of 21 had strabismus, 10 of 21 had ptosis, and 6 of 21 had nystagmus. Ophthalmic craniofacial abnormalities of hypoplastic supraorbital ridges, prominent epicanthal folds, and antimongoloid s …
Combining the 18 previously reported cases with our additional 3, 9 of 21 had strabismus, 10 of 21 had ptosis, and 6 of 21 had nystagmus. Op …
Ectodermal dysplasia: a review and case report.
Itthagarun A, King NM. Itthagarun A, et al. Quintessence Int. 1997 Sep;28(9):595-602. Quintessence Int. 1997. PMID: 9477874 Review.
Common manifestations include defective hair follicles and eyebrows, frontal bossing with prominent supraorbital ridges, nasal bridge depression, and protuberant lips. ...
Common manifestations include defective hair follicles and eyebrows, frontal bossing with prominent supraorbital ridges
Severe mental retardation and macroorchidism without mutation in the FMR1 gene.
Reyniers E, Wolff G, Tariverdian G, De Boulle K, Storm K, Kooy RF, Willems PJ. Reyniers E, et al. Am J Med Genet. 1996 Aug 9;64(2):408-12. doi: 10.1002/(SICI)1096-8628(19960809)64:2<408::AID-AJMG35>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8844093 Review.
The patient carrying this mutation has profound mental retardation, macroorchidism, and an "acromegalic" face with prominent supraorbital ridges, enlarged jaw, heavy brow ridges, thick lips, and a broad nose. ...
The patient carrying this mutation has profound mental retardation, macroorchidism, and an "acromegalic" face with prominent supra
Clark-Baraitser syndrome: report of a new case and review of the literature.
Mendicino A, Sabbadini G, Pergola MS. Mendicino A, et al. Clin Dysmorphol. 2005 Jul;14(3):133-135. Clin Dysmorphol. 2005. PMID: 15930902 Review.
We describe the case of a boy with moderate mental retardation associated with tall stature, obesity, macrocephaly and typical facial features, characterized by a large 'square' forehead, prominent supraorbital ridges, broad nasal tip, prominent lower …
We describe the case of a boy with moderate mental retardation associated with tall stature, obesity, macrocephaly and typical facial featur …