Franceschini P - Search Results

1

Franceschini P, Guala A, Licata D, Di Cara G, Franceschini D. Franceschini P, et al. Among authors: franceschini d. Am J Med Genet. 2000 Mar 13;91(2):141-3. Am J Med Genet. 2000. PMID: 10748415

2

Patterson-Lowry rhizomelic dysplasia: report of two new patients.

Franceschini P, Licata D, Guala A, Ingrosso G, Di Cara G, Franceschini D. Franceschini P, et al. Among authors: franceschini d. Am J Med Genet A. 2004 May 15;127A(1):86-92. doi: 10.1002/ajmg.a.20638. Am J Med Genet A. 2004. PMID: 15103724

3

Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome.

Franceschini P, Vardeu MP, Guala A, Franceschini D, Testa A, Corrias A, Chiabotto P. Franceschini P, et al. Among authors: franceschini d. Am J Med Genet. 1993 Sep 1;47(3):423-5. doi: 10.1002/ajmg.1320470326. Am J Med Genet. 1993. PMID: 8135293

4

Inguinal hernia and atrial septal defect in Tel Hashomer camptodactyly syndrome: report of a new case expanding the phenotypic spectrum of the disease.

Franceschini P, Vardeu MP, Signorile F, Testa A, Guala A, Franceschini D, Dalforno L. Franceschini P, et al. Among authors: franceschini d. Am J Med Genet. 1993 May 15;46(3):341-4. doi: 10.1002/ajmg.1320460320. Am J Med Genet. 1993. PMID: 8488882 Review.

5

Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum.

Franceschini P, Guala A, Vardeu MP, Signorile F, Franceschini D, Bolgiani MP. Franceschini P, et al. Among authors: franceschini d. Am J Med Genet. 1995 Nov 20;59(3):359-64. doi: 10.1002/ajmg.1320590316. Am J Med Genet. 1995. PMID: 8599362

6

Ullrich-Turner phenotype with unusual manifestation in a patient with mosaicism 45,X/47,XX,+18.

Franceschini P, Guala A, Camerano P, Franceschini D, Vardeu MP, Signorile F. Franceschini P, et al. Among authors: franceschini d. Am J Med Genet. 1996 Mar 1;62(1):26-8. doi: 10.1002/(SICI)1096-8628(19960301)62:1<26::AID-AJMG6>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8779320

7

Esophageal atresia with distal tracheoesophageal fistula in a patient with fronto-metaphyseal dysplasia.

Franceschini P, Guala A, Licata D, Franceschini D, Signorile F, Di Cara G. Franceschini P, et al. Among authors: franceschini d. Am J Med Genet. 1997 Nov 28;73(1):10-4. doi: 10.1002/(sici)1096-8628(19971128)73:1<10::aid-ajmg3>3.0.co;2-t. Am J Med Genet. 1997. PMID: 9375915 Review.

8

Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome.

Franceschini P, Licata D, Guala A, Di Cara G, Signorile F, Franceschini D, Genitori L, Restagno G. Franceschini P, et al. Among authors: franceschini d. Am J Med Genet. 1998 Dec 4;80(4):303-8. Am J Med Genet. 1998. PMID: 9856554 Review.

9

Bladder carcinoma in Costello syndrome: report on a patient born to consanguineous parents and review.

Franceschini P, Licata D, Di Cara G, Guala A, Bianchi M, Ingrosso G, Franceschini D. Franceschini P, et al. Among authors: franceschini d. Am J Med Genet. 1999 Sep 10;86(2):174-9. Am J Med Genet. 1999. PMID: 10449656 Review.

10

Macrocephaly-Cutis marmorata telangiectatica congenita without cutis marmorata?

Franceschini P, Licata D, Di Cara G, Guala A, Franceschini D, Genitori L. Franceschini P, et al. Among authors: franceschini d. Am J Med Genet. 2000 Feb 14;90(4):265-9. Am J Med Genet. 2000. PMID: 10710221

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