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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.
Structural malformations have been most consistently produced in rabbits at a maternal dose level of 19.2 mg/kg. Abnormalities in rabbits include hydrocephalus, microphthalmia, cleft lip and palate, micrognathia, dysplastic sacral and caudal vertebrate, phocomelia, hemimel …
Structural malformations have been most consistently produced in rabbits at a maternal dose level of 19.2 mg/kg. Abnormalities in rab …
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 …
Common surgical pitfalls in the skull.
Keskil S, Gözil R, Calgüner E. Keskil S, et al. Surg Neurol. 2003 Mar;59(3):228-31; discussion 231. doi: 10.1016/s0090-3019(02)01038-8. Surg Neurol. 2003. PMID: 12681561 Review.
BACKGROUND: A detailed knowledge of the morphologic variations in the ossicles, foramina, and ridges of the skull vault and skull base is vital to performing safe radical surgery. ...CONCLUSION: Recognition of these structures and their possible variations will help in dis …
BACKGROUND: A detailed knowledge of the morphologic variations in the ossicles, foramina, and ridges of the skull vault and skull bas …
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 lip and minor …
We describe the case of a boy with moderate mental retardation associated with tall stature, obesity, macrocephaly and typical facial featur …
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.
The cardio-facio-cutaneous (CFC) syndrome is an uncommon multiple congenital anomalies/mental retardation syndrome whose major manifestations are congenital heart defects, relative macrocephaly, stunted growth, ectodermal dysplasia, characteristic facial appearance, …
The cardio-facio-cutaneous (CFC) syndrome is an uncommon multiple congenital anomalies/mental retardation syndrome whose major manife …
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 anomali …
Recently, de novo aberrations in PHF6 were identified in females with intellectual disability and with a distinct phenotype including a char …
Aesthetic contouring of the facial support system.
Whitaker LA. Whitaker LA. Clin Plast Surg. 1989 Oct;16(4):815-23. Clin Plast Surg. 1989. PMID: 2680223 Review.
In the temporal fossa, augmentation with synthetic material is preferred. In the supraorbital ridge and chin autogenous tissue is generally the material of choice. ...
In the temporal fossa, augmentation with synthetic material is preferred. In the supraorbital ridge and chin autogenous tissue …
Developmental delay in fetal aminopterin/methotrexate syndrome.
Del Campo M, Kosaki K, Bennett FC, Jones KL. Del Campo M, et al. Teratology. 1999 Jul;60(1):10-2. doi: 10.1002/(SICI)1096-9926(199907)60:1<10::AID-TERA5>3.0.CO;2-H. Teratology. 1999. PMID: 10413333 Review.
Maternal exposures to aminopterin and methotrexate have been associated with a pattern of malformation which includes prenatal-onset growth deficiency, severe lack of ossification of the calvarium, hypoplastic supraorbital ridges, small, low-set ears, micrognathia, …
Maternal exposures to aminopterin and methotrexate have been associated with a pattern of malformation which includes prenatal-onset growth …
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.
Kariminejad A, Afroozan F, Bozorgmehr B, Ghanadan A, Akbaroghli S, Khorram Khorshid HR, Mojahedi F, Setoodeh A, Loh A, Tan YX, Escande-Beillard N, Malfait F, Reversade B, Gardeitchik T, Morava E. Kariminejad A, et al. Int J Mol Sci. 2017 Mar 15;18(3):635. doi: 10.3390/ijms18030635. Int J Mol Sci. 2017. PMID: 28294978 Free PMC article. Review.
The characteristic features for ARCL2A are abnormal isoelectric focusing and facial features, including downslanting palpebral fissures and a long philtrum. ...Normal cognition and osteopenia leading to pathological fractures, maxillary hypoplasia, and oblique furrowing fr …
The characteristic features for ARCL2A are abnormal isoelectric focusing and facial features, including downslanting palpebral fissur …
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 supraorbital
11 results