Titomanlio L - Search Results

1

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.

2

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

3

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.

4

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

5

A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region.

Titomanlio L, Giurgea I, Baumann C, Elmaleh M, Sachs P, Chalard F, Aboura A, Verloes A. Titomanlio L, et al. Eur J Hum Genet. 2006 Aug;14(8):971-4. doi: 10.1038/sj.ejhg.5201635. Epub 2006 May 17. Eur J Hum Genet. 2006. PMID: 16724010

6

Case 31-2006: a girl with severe obesity.

Titomanlio L, Verloes A, Mercier JC. Titomanlio L, et al. N Engl J Med. 2007 Jan 11;356(2):194; author reply 195-6. doi: 10.1056/NEJMc063066. N Engl J Med. 2007. PMID: 17215542 No abstract available.

7

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Mégarbané A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A. Passemard S, et al. Among authors: titomanlio l. Neurology. 2009 Sep 22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a. Neurology. 2009. PMID: 19770472

8

Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly.

Scala I, Titomanlio L, Del Giudice E, Passemard S, Figliuolo C, Annunziata P, Granese B, Scarpato E, Verloes A, Andria G. Scala I, et al. Among authors: titomanlio l. Am J Med Genet A. 2010 Nov;152A(11):2882-5. doi: 10.1002/ajmg.a.33672. Am J Med Genet A. 2010. PMID: 20949544 No abstract available.

9

Pediatric ischemic stroke: acute management and areas of research.

Titomanlio L, Zanin A, Sachs P, Khaled J, Elmaleh M, Blanc R, Piotin M. Titomanlio L, et al. J Pediatr. 2013 Feb;162(2):227-35.e1. doi: 10.1016/j.jpeds.2012.09.018. Epub 2012 Nov 13. J Pediatr. 2013. PMID: 23153863 No abstract available.

10

Headache with focal neurologic signs in children at the emergency department.

Massano D, Julliand S, Kanagarajah L, Gautier M, Vizeneux A, Elmaleh M, Alison M, Lejay E, Romanello S, Teisseyre L, Delanoe C, Titomanlio L. Massano D, et al. Among authors: titomanlio l. J Pediatr. 2014 Aug;165(2):376-82. doi: 10.1016/j.jpeds.2014.04.053. Epub 2014 Jun 11. J Pediatr. 2014. PMID: 24928695

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