Titomanlio L - Search Results

1

Cerebellar vermis aplasia: patient report and exclusion of the candidate genes EN2 and ZIC1.

Titomanlio L, Pierri NB, Romano A, Imperati F, Borrelli M, Barletta V, Diano AA, Castaldo I, Santoro L, Del Giudice E. Titomanlio L, et al. Am J Med Genet A. 2005 Jul 15;136(2):198-200. doi: 10.1002/ajmg.a.30795. Am J Med Genet A. 2005. PMID: 15940696

2

Case of Myhre syndrome with autism and peculiar skin histological findings.

Titomanlio L, Marzano MG, Rossi E, D'Armiento M, De Brasi D, Vega GR, Andreucci MV, Orsini AV, Santoro L, Sebastio G. Titomanlio L, et al. Am J Med Genet. 2001 Oct 1;103(2):163-5. doi: 10.1002/ajmg.1517. Am J Med Genet. 2001. PMID: 11568925

3

Mild Wolf-Hirschhorn phenotype and partial GH deficiency in a patient with a 4p terminal deletion.

Titomanlio L, Romano A, Conti A, Genesio R, Salerno M, De Brasi D, Nitsch L, Del Giudice E. Titomanlio L, et al. Am J Med Genet A. 2004 Jun 1;127A(2):197-200. doi: 10.1002/ajmg.a.20667. Am J Med Genet A. 2004. PMID: 15108211

4

Cerebellar agenesis.

Titomanlio L, Romano A, Del Giudice E. Titomanlio L, et al. Neurology. 2005 Mar 22;64(6):E21. doi: 10.1212/wnl.64.6.e21. Neurology. 2005. PMID: 15781801 No abstract available.

5

Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?

Titomanlio L, Bennaceur S, Bremond-Gignac D, Baumann C, Dupuy O, Verloes A. Titomanlio L, et al. Am J Med Genet A. 2005 Sep 1;137A(3):332-5. doi: 10.1002/ajmg.a.30878. Am J Med Genet A. 2005. PMID: 16096999 Review.

6

A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria.

Titomanlio L, Baumann C, Bonyhay G, Huten Y, Oury JF, Vuillard E, Garel C, Terdjman P, Verloes A, Delezoide AL. Titomanlio L, et al. Am J Med Genet A. 2005 Sep 15;138(1):1-5. doi: 10.1002/ajmg.a.30914. Am J Med Genet A. 2005. PMID: 16097005

7

Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome.

Titomanlio L, De Brasi D, Romano A, Genesio R, Diano AA, Del Giudice E. Titomanlio L, et al. Acta Paediatr. 2006 Jul;95(7):861-3. doi: 10.1080/08035250500527307. Acta Paediatr. 2006. PMID: 16801186

8

Taylor-type focal cortical dysplasia: is the epilepsy always resistant to medical treatment?

Del Giudice E, Bianchi MC, Tosetti M, Varrone A, Romano A, Crisanti AF, Titomanlio L, Imperati F. Del Giudice E, et al. Among authors: titomanlio l. Epileptic Disord. 2006 Dec;8(4):289-93. Epileptic Disord. 2006. PMID: 17150443 Free article.

9

Familial occurrence of early-onset childhood absence epilepsy.

Titomanlio L, Romano A, Bellini G, Pascotto A, Iuliano R, Miraglia Del Giudice E, Del Giudice E. Titomanlio L, et al. Eur J Paediatr Neurol. 2007 May;11(3):178-80. doi: 10.1016/j.ejpn.2006.12.005. Epub 2007 Jan 30. Eur J Paediatr Neurol. 2007. PMID: 17267250

10

CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.

Keren B, Suzuki OT, Gérard-Blanluet M, Brémond-Gignac D, Elmaleh M, Titomanlio L, Delezoide AL, Passos-Bueno MR, Verloes A. Keren B, et al. Among authors: titomanlio l. Am J Med Genet A. 2007 Jul 1;143A(13):1514-8. doi: 10.1002/ajmg.a.31784. Am J Med Genet A. 2007. PMID: 17546652 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

116 results

Search Page

Filters