Titomanlio L - Search Results

1

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

2

Imaging Predictors of Neurologic Outcome After Pediatric Arterial Ischemic Stroke.

Jiang B, Hills NK, Forsyth R, Jordan LC, Slim M, Pavlakis SG, Freidman N, Dlamini N, Farooq O, Li Y, Zhu G, Fullerton H, Wintermark M, Lo WD; VIPS Investigators*. Jiang B, et al. Stroke. 2021 Jan;52(1):152-161. doi: 10.1161/STROKEAHA.120.030965. Epub 2020 Dec 7. Stroke. 2021. PMID: 33280552 Free PMC article.

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

Study of multimodal evoked potentials in patients with type 1 Gaucher's disease.

Perretti A, Parenti G, Balbi P, Titomanlio L, Marcantonio L, Iapoce M, Frascogna AR, Andria G, Santoro L. Perretti A, et al. Among authors: titomanlio l. J Child Neurol. 2005 Feb;20(2):124-8. doi: 10.1177/08830738050200020801. J Child Neurol. 2005. PMID: 15794178

6

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

7

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.

8

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

9

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

10

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

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