Baldi M - Search Results

1

FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association?

Prontera P, Sensi A, Pilu G, Baldi M, Baffico M, Bonasoni R, Calzolari E. Prontera P, et al. Among authors: baldi m. Genet Couns. 2006;17(4):407-12. Genet Couns. 2006. PMID: 17375526

2

Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation.

De Biasio P, Prefumo F, Baffico M, Baldi M, Priolo M, Lerone M, Tomà P, Venturini PL. De Biasio P, et al. Among authors: baldi m. Prenat Diagn. 2000 Oct;20(10):835-7. doi: 10.1002/1097-0223(200010)20:10<835::aid-pd903>3.0.co;2-n. Prenat Diagn. 2000. PMID: 11038465

3

Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.

Camera G, Baldi M, Strisciuglio G, Concolino D, Mastroiacovo P, Baffico M. Camera G, et al. Among authors: baldi m. Am J Med Genet. 2001 Dec 15;104(4):277-81. doi: 10.1002/ajmg.10092. Am J Med Genet. 2001. PMID: 11754059

4

An unusual radiological finding in thanatophoric dysplasia type 1 with common mutation of the fibroblast growth factor receptor-3 (FGFR3) gene (Arg248Cys).

Camera G, Baldi M, Baffico M, Pozzolo S. Camera G, et al. Among authors: baldi m. Am J Med Genet. 1997 Jul 11;71(1):122-3. Am J Med Genet. 1997. PMID: 9215781 No abstract available.

5

ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy.

De Sanctis V, Baldi M, Marsciani A, Ravaioli E, Timoncini G, Reggiani L, Sensi A, Zucchini A. De Sanctis V, et al. Among authors: baldi m. Georgian Med News. 2012 Sep;(210):77-82. Georgian Med News. 2012. PMID: 23045425 English, Georgian.

6

Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature.

Nazzaro A, Della Monica M, Lonardo F, Di Blasi A, Baffico M, Baldi M, Nazzaro G, De Placido G, Scarano G. Nazzaro A, et al. Among authors: baldi m. Prenat Diagn. 2004 Nov;24(11):918-22. doi: 10.1002/pd.844. Prenat Diagn. 2004. PMID: 15565658 Review.

7

A novel fibroblast growth factor receptor 2 (FGFR2) mutation associated with a mild Crouzon syndrome.

Locuratolo N, Baffico M, Baldi M, Parisi V, Micacchi F, Angelucci V, Rojas Beccaglia M, Pirro C, Fattapposta F. Locuratolo N, et al. Among authors: baldi m. Arch Ital Biol. 2011 Sep;149(3):313-7. doi: 10.4449/aib.v149i3.1379. Arch Ital Biol. 2011. PMID: 22028092 No abstract available.

8

Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs.

Natacci F, Baffico M, Cavallari U, Bedeschi MF, Mura I, Paffoni A, Setti PL, Baldi M, Lalatta F. Natacci F, et al. Among authors: baldi m. Am J Med Genet A. 2008 Mar 15;146A(6):784-6. doi: 10.1002/ajmg.a.32228. Am J Med Genet A. 2008. PMID: 18266238

9

Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene.

Priolo M, Lerone M, Baffico M, Baldi M, Ravazzolo R, Cama A, Capra V, Silengo M. Priolo M, et al. Among authors: baldi m. Clin Genet. 2000 Jul;58(1):81-3. doi: 10.1034/j.1399-0004.2000.580116.x. Clin Genet. 2000. PMID: 10945669 No abstract available.

10

Hb Bologna-St. Orsola [beta146(HC3)His-->Tyr]: a new high oxygen affinity variant with halved Bohr effect and highly reduced reactivity towards 2,3-diphosphoglycerate.

Ivaldi G, David O, Paradossi V, Baffico M, Scimè Degani V, Leone D, Baldi M, Parodi MI, Bernardi P, Ricco G. Ivaldi G, et al. Among authors: baldi m. Hemoglobin. 1999 Nov;23(4):353-9. doi: 10.3109/03630269909090751. Hemoglobin. 1999. PMID: 10569724 No abstract available.

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