Defilippi C - Search Results

1

Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?

Ferrero GB, Valenzise M, Franco B, Defilippi C, Gregato G, Corsello G, Pepe E, Silengo M. Ferrero GB, et al. Among authors: defilippi c. Am J Med Genet. 2002 Dec 1;113(3):291-4. doi: 10.1002/ajmg.10815. Am J Med Genet. 2002. PMID: 12439899

2

Myhre's syndrome in a girl with normal intelligence.

Rulli I, Ferrero GB, Belligni E, Delmonaco AG, Defilippi C, Silengo M. Rulli I, et al. Among authors: defilippi c. Am J Med Genet A. 2005 Apr 1;134A(1):100-2. doi: 10.1002/ajmg.a.30444. Am J Med Genet A. 2005. PMID: 15723310 No abstract available.

3

Progressive extreme heterotopic calcification.

Silengo M, Defilippi C, Belligni E, Biamino E, Flex E, Brusco A, Ferrero GB, Tartaglia M, Hennekam RC. Silengo M, et al. Among authors: defilippi c. Am J Med Genet A. 2013 Jul;161A(7):1706-13. doi: 10.1002/ajmg.a.35944. Epub 2013 May 17. Am J Med Genet A. 2013. PMID: 23686761

4

[Rudimentary acral anomalies in a patient with Acrocal-losal syndrome].

Silengo M, Del Monaco A, Defilippi C. Silengo M, et al. Among authors: defilippi c. Radiol Med. 2001 Apr;101(4):299-301. Radiol Med. 2001. PMID: 11398065 Italian. No abstract available.

5

Dandy-Walker complex in a child with Jeune's asphyxiating thoracic dystrophy.

Silengo M, Gianino P, Longo P, Battistoni G, Defilippi C. Silengo M, et al. Among authors: defilippi c. Pediatr Radiol. 2000 Jun;30(6):430. doi: 10.1007/s002470050779. Pediatr Radiol. 2000. PMID: 10876833 No abstract available.

6

Severe malignant osteopetrosis caused by a GL gene mutation.

Quarello P, Forni M, Barberis L, Defilippi C, Campagnoli MF, Silvestro L, Frattini A, Chalhoub N, Vacher J, Ramenghi U. Quarello P, et al. Among authors: defilippi c. J Bone Miner Res. 2004 Jul;19(7):1194-9. doi: 10.1359/JBMR.040407. Epub 2004 Apr 12. J Bone Miner Res. 2004. PMID: 15177004 Free article.

7

Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene.

Bargiacchi S, Della Monica M, Biagiotti R, Andreucci E, Ciabattoni S, Poggi P, Di Maurizio M, Defilippi C, Cariati E, Giglio S. Bargiacchi S, et al. Among authors: defilippi c. Eur J Med Genet. 2017 Jul;60(7):365-368. doi: 10.1016/j.ejmg.2017.04.007. Epub 2017 Apr 13. Eur J Med Genet. 2017. PMID: 28414187

8

Bulky-pedunculated hemolymphangioma of the esophagus: rare case in a two-years old girl.

Canavese F, Cortese MG, Proietti L, Costantino S, Rosina M, Nangeroni M, Defilippi C, Di Rosa GP. Canavese F, et al. Among authors: defilippi c. Eur J Pediatr Surg. 1996 Jun;6(3):170-2. doi: 10.1055/s-2008-1066499. Eur J Pediatr Surg. 1996. PMID: 8817212

9

Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family.

Campagnoli MF, Pucci A, Garelli E, Carando A, Defilippi C, Lala R, Ingrosso G, Dianzani I, Forni M, Ramenghi U. Campagnoli MF, et al. Among authors: defilippi c. J Clin Pathol. 2006 Apr;59(4):440-2. doi: 10.1136/jcp.2005.026369. J Clin Pathol. 2006. PMID: 16567474 Free PMC article.

10

Diagnostic imaging of the early slipped capital femoral epiphysis.

Magnano GM, Lucigrai G, De Filippi C, Castriota Scanderberg A, Pacciani E, Tomà P. Magnano GM, et al. Radiol Med. 1998 Jan-Feb;95(1-2):16-20. Radiol Med. 1998. PMID: 9636721

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