Francomano CA - Search Results

1

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

2

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

3

Living with Marfan syndrome II. Medication adherence and physical activity modification.

Peters KF, Horne R, Kong F, Francomano CA, Biesecker BB. Peters KF, et al. Among authors: francomano ca. Clin Genet. 2001 Oct;60(4):283-92. doi: 10.1034/j.1399-0004.2001.600406.x. Clin Genet. 2001. PMID: 11683774

4

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

5

The question of heterogeneity in Marfan syndrome.

Dietz H, Francke U, Furthmayr H, Francomano C, De Paepe A, Devereux R, Ramirez F, Pyeritz R. Dietz H, et al. Nat Genet. 1995 Mar;9(3):228-31. doi: 10.1038/ng0395-228. Nat Genet. 1995. PMID: 7773282 No abstract available.

6

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

7

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

8

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.

Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J. Ruiz-Perez VL, et al. Nat Genet. 2000 Mar;24(3):283-6. doi: 10.1038/73508. Nat Genet. 2000. PMID: 10700184

9

Severe hypodontia and oral xanthomas in Alagille syndrome.

Ho NC, Lacbawan F, Francomano CA, Ho V. Ho NC, et al. Among authors: francomano ca. Am J Med Genet. 2000 Jul 31;93(3):250-2. doi: 10.1002/1096-8628(20000731)93:3<250::aid-ajmg18>3.0.co;2-a. Am J Med Genet. 2000. PMID: 10925392 No abstract available.

10

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

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