Severino M - Search Results

1

Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.

D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V. D'Onofrio G, et al. Among authors: severino m. Hum Genet. 2023 Jul;142(7):909-925. doi: 10.1007/s00439-023-02552-2. Epub 2023 May 14. Hum Genet. 2023. PMID: 37183190 Free PMC article. Review.

2

Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.

Biancheri R, Grossi S, Regis S, Rossi A, Corsolini F, Rossi DP, Cavalli P, Severino M, Filocamo M. Biancheri R, et al. Among authors: severino m. Clin Genet. 2014 Mar;85(3):267-72. doi: 10.1111/cge.12154. Epub 2013 May 27. Clin Genet. 2014. PMID: 23711321

3

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.

Fiorillo C, Moro F, Yi J, Weil S, Brisca G, Astrea G, Severino M, Romano A, Battini R, Rossi A, Minetti C, Bruno C, Santorelli FM, Vallee R. Fiorillo C, et al. Among authors: severino m. Hum Mutat. 2014 Mar;35(3):298-302. doi: 10.1002/humu.22491. Epub 2014 Jan 3. Hum Mutat. 2014. PMID: 24307404 Free PMC article.

4

Midbrain-hindbrain involvement in septo-optic dysplasia.

Severino M, Allegri AE, Pistorio A, Roviglione B, Di Iorgi N, Maghnie M, Rossi A. Severino M, et al. AJNR Am J Neuroradiol. 2014 Aug;35(8):1586-92. doi: 10.3174/ajnr.A3959. Epub 2014 Apr 24. AJNR Am J Neuroradiol. 2014. PMID: 24763416 Free PMC article.

5

Reversible cerebral vasoconstriction mimicking posterior reversible encephalopathy syndrome in an infant with end-stage renal disease.

Sanchez-Montanez A, Morana G, Mancardi MM, Janis S, Severino M, Verrina E, Rossi A. Sanchez-Montanez A, et al. Among authors: severino m. Cephalalgia. 2015 Oct;35(11):1031-3. doi: 10.1177/0333102414566197. Epub 2015 Jan 8. Cephalalgia. 2015. PMID: 25573896 No abstract available.

6

Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?

Accogli A, Pacetti M, Fiaschi P, Pavanello M, Piatelli G, Nuzzi D, Baldi M, Tassano E, Severino MS, Allegri A, Capra V. Accogli A, et al. Among authors: severino ms. Am J Med Genet A. 2015 Mar;167A(3):646-52. doi: 10.1002/ajmg.a.36933. Am J Med Genet A. 2015. PMID: 25691418 Review.

7

Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations.

Severino M, Accogli A, Gimelli G, Rossi A, Kotzeva S, Di Rocco M, Ronchetto P, Cuoco C, Tassano E. Severino M, et al. Mol Cytogenet. 2015 Mar 5;8:17. doi: 10.1186/s13039-015-0121-z. eCollection 2015. Mol Cytogenet. 2015. PMID: 25774222 Free PMC article.

8

Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.

Biancheri R, Lamantea E, Severino M, Diodato D, Pedemonte M, Cassandrini D, Ploederl A, Trucco F, Fiorillo C, Minetti C, Santorelli FM, Zeviani M, Bruno C. Biancheri R, et al. Among authors: severino m. JIMD Rep. 2015;23:85-9. doi: 10.1007/8904_2015_434. Epub 2015 Apr 9. JIMD Rep. 2015. PMID: 25854774 Free PMC article.

9

Expanding the spectrum of congenital anomalies of the diencephalic-mesencephalic junction.

Severino M, Tortora D, Pistorio A, Ramenghi LA, Napoli F, Mancardi MM, Striano P, Capra V, Rossi A. Severino M, et al. Neuroradiology. 2016 Jan;58(1):33-44. doi: 10.1007/s00234-015-1601-x. Epub 2015 Oct 7. Neuroradiology. 2016. PMID: 26446148

10

Idiopathic Cervical Hematomyelia in an Infant: Spinal Cord Injury without Radiographic Abnormality Caused by a Trivial Trauma? Case Report and Review of the Literature.

Fiaschi P, Severino M, Ravegnani GM, Piatelli G, Consales A, Accogli A, Capra V, Cama A, Pavanello M. Fiaschi P, et al. Among authors: severino m. World Neurosurg. 2016 Jun;90:38-44. doi: 10.1016/j.wneu.2016.01.094. Epub 2016 Feb 16. World Neurosurg. 2016. PMID: 26899465 Review.

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