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138 results
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The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans.
Vajo Z, Francomano CA, Wilkin DJ. Vajo Z, et al. Among authors: francomano ca. Endocr Rev. 2000 Feb;21(1):23-39. doi: 10.1210/edrv.21.1.0387. Endocr Rev. 2000. PMID: 10696568 Review.
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
Bellus GA, Spector EB, Speiser PW, Weaver CA, Garber AT, Bryke CR, Israel J, Rosengren SS, Webster MK, Donoghue DJ, Francomano CA. Bellus GA, et al. Among authors: francomano ca. Am J Hum Genet. 2000 Dec;67(6):1411-21. doi: 10.1086/316892. Epub 2000 Oct 27. Am J Hum Genet. 2000. PMID: 11055896 Free PMC article.
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.
Tavormina PL, Bellus GA, Webster MK, Bamshad MJ, Fraley AE, McIntosh I, Szabo J, Jiang W, Jabs EW, Wilcox WR, Wasmuth JJ, Donoghue DJ, Thompson LM, Francomano CA. Tavormina PL, et al. Among authors: francomano ca. Am J Hum Genet. 1999 Mar;64(3):722-31. doi: 10.1086/302275. Am J Hum Genet. 1999. PMID: 10053006 Free PMC article.
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.
Bellus GA, Bamshad MJ, Przylepa KA, Dorst J, Lee RR, Hurko O, Jabs EW, Curry CJ, Wilcox WR, Lachman RS, Rimoin DL, Francomano CA. Bellus GA, et al. Among authors: francomano ca. Am J Med Genet. 1999 Jul 2;85(1):53-65. Am J Med Genet. 1999. PMID: 10377013
Prevalence of aortic root dilation in the Ehlers-Danlos syndrome.
Wenstrup RJ, Meyer RA, Lyle JS, Hoechstetter L, Rose PS, Levy HP, Francomano CA. Wenstrup RJ, et al. Among authors: francomano ca. Genet Med. 2002 May-Jun;4(3):112-7. doi: 10.1097/00125817-200205000-00003. Genet Med. 2002. PMID: 12180144
Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons.
Wilkin DJ, Liberfarb R, Davis J, Levy HP, Cole WG, Francomano CA, Cohn DH. Wilkin DJ, et al. Among authors: francomano ca. Am J Med Genet. 2000 Sep 11;94(2):141-8. doi: 10.1002/1096-8628(20000911)94:2<141::aid-ajmg6>3.0.co;2-a. Am J Med Genet. 2000. PMID: 10982970
Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.
Deere M, Sanford T, Francomano CA, Daniels K, Hecht JT. Deere M, et al. Among authors: francomano ca. Am J Med Genet. 1999 Aug 27;85(5):486-90. doi: 10.1002/(sici)1096-8628(19990827)85:5<486::aid-ajmg10>3.0.co;2-o. Am J Med Genet. 1999. PMID: 10405447
Confirmatory linkage of hypochondroplasia to chromosome arm 4p.
Hecht JT, Herrera CA, Greenhaw GA, Francomano CA, Bellus GA, Blanton SH. Hecht JT, et al. Among authors: francomano ca. Am J Med Genet. 1995 Jul 3;57(3):505-6. doi: 10.1002/ajmg.1320570333. Am J Med Genet. 1995. PMID: 7677163 No abstract available.
A comparison of the Berlin and Ghent nosologies and the influence of dural ectasia in the diagnosis of Marfan syndrome.
Rose PS, Levy HP, Ahn NU, Sponseller PD, Magyari T, Davis J, Francomano CA. Rose PS, et al. Among authors: francomano ca. Genet Med. 2000 Sep-Oct;2(5):278-82. doi: 10.1097/00125817-200009000-00002. Genet Med. 2000. PMID: 11399208
Living with Marfan syndrome I. Perceptions of the condition.
Peters KF, Kong F, Horne R, Francomano CA, Biesecker BB. Peters KF, et al. Among authors: francomano ca. Clin Genet. 2001 Oct;60(4):273-82. doi: 10.1034/j.1399-0004.2001.600405.x. Clin Genet. 2001. PMID: 11683773
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