Ranza E - Search Results

1

A 19-month-old Boy With Refractory Cervical Adenitis.

Schneider A, Ranza E, Diana A, Laurent M, Rougemont AL, Hauri M, Reichenbach J, Blanchard-Rohner G. Schneider A, et al. Among authors: ranza e. Pediatr Infect Dis J. 2019 Oct;38(10):1071. doi: 10.1097/INF.0000000000002336. Pediatr Infect Dis J. 2019. PMID: 31568146 No abstract available.

2

Activated Phosphoinositide 3 Kinase Delta Syndrome (APDS): A Primary Immunodeficiency Mimicking Lymphoma.

Baleydier F, Ranza E, Schäppi M, Rougemont AL, Merlini L, Ansari M, Blanchard-Rohner G. Baleydier F, et al. Among authors: ranza e. J Pediatr Hematol Oncol. 2019 Nov;41(8):e521-e524. doi: 10.1097/MPH.0000000000001328. J Pediatr Hematol Oncol. 2019. PMID: 30334905

3

Case Report: Persistent Hypogammaglobulinemia More Than 10 Years After Rituximab Given Post-HSCT.

Luterbacher F, Bernard F, Baleydier F, Ranza E, Jandus P, Blanchard-Rohner G. Luterbacher F, et al. Among authors: ranza e. Front Immunol. 2021 Dec 22;12:773853. doi: 10.3389/fimmu.2021.773853. eCollection 2021. Front Immunol. 2021. PMID: 35003091 Free PMC article.

4

Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms.

Blanchard-Rohner G, Peirolo A, Coulon L, Korff C, Horvath J, Burkhard PR, Gumy-Pause F, Ranza E, Jandus P, Dibra H, Taylor AMR, Fluss J. Blanchard-Rohner G, et al. Among authors: ranza e. Front Immunol. 2022 Jan 28;13:791522. doi: 10.3389/fimmu.2022.791522. eCollection 2022. Front Immunol. 2022. PMID: 35154108 Free PMC article.

5

Hyper-IgE syndrome presenting with early life craniosynostosis in monozygotic twin sisters.

Peirolo A, Verolet C, Ranza E, Rohr M, Laurent M, Ruchonnet-Metrailler I, Worth AJJ, Blanchard-Rohner G. Peirolo A, et al. Among authors: ranza e. Pediatr Allergy Immunol. 2023 Apr;34(4):e13944. doi: 10.1111/pai.13944. Pediatr Allergy Immunol. 2023. PMID: 37102391 No abstract available.

6

Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation.

Zimmern V, Riant F, Roze E, Ranza E, Lehmann-Horn F, de Bellescize J, Ville D, Lesca G, Korff CM. Zimmern V, et al. Among authors: ranza e. Neuropediatrics. 2019 Oct;50(5):308-312. doi: 10.1055/s-0039-1688410. Epub 2019 Jun 21. Neuropediatrics. 2019. PMID: 31226716

7

SCN8A heterozygous variants are associated with anoxic-epileptic seizures.

Ranza E, Z'Graggen W, Lidgren M, Beghetti M, Guipponi M, Antonarakis SE, Absoud M, Goyal S, Pal DK, Korff CM. Ranza E, et al. Am J Med Genet A. 2020 May;182(5):1209-1216. doi: 10.1002/ajmg.a.61513. Epub 2020 Feb 10. Am J Med Genet A. 2020. PMID: 32040247

8

Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation.

Nicastro N, Ranza E, Antonarakis SE, Horvath J. Nicastro N, et al. Among authors: ranza e. Cerebellum. 2016 Dec;15(6):829-831. doi: 10.1007/s12311-015-0749-6. Cerebellum. 2016. PMID: 26607151

9

Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases.

Ranza E, Huber C, Levin N, Baujat G, Bole-Feysot C, Nitschke P, Masson C, Alanay Y, Al-Gazali L, Bitoun P, Boute O, Campeau P, Coubes C, McEntagart M, Elcioglu N, Faivre L, Gezdirici A, Johnson D, Mihci E, Nur BG, Perrin L, Quelin C, Terhal P, Tuysuz B, Cormier-Daire V. Ranza E, et al. Clin Genet. 2017 Jun;91(6):868-880. doi: 10.1111/cge.12885. Epub 2017 Feb 23. Clin Genet. 2017. PMID: 28229453

10

[Genetic aspects of movement disorders of adulthood].

Horvath J, Ranza E. Horvath J, et al. Among authors: ranza e. Rev Med Suisse. 2018 Apr 25;14(604):879-882. Rev Med Suisse. 2018. PMID: 29701433 French.

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