Jilani H - Search Results

1

Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.

Callea M, Martinelli D, Cammarata-Scalisi F, Grimaldi C, Jilani H, Grimaldi P, Willoughby CE, Morabito A. Callea M, et al. Among authors: jilani h. Genes (Basel). 2022 Mar 11;13(3):496. doi: 10.3390/genes13030496. Genes (Basel). 2022. PMID: 35328050 Free PMC article. Review.

2

Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases.

Callea M, Bellacchio E, Cammarata Scalisi F, El Feghaly J, El-Ghandour RK, Avendaño A, Yavuz Y, Diociaiuti A, Digilio MC, DI Stazio M, Novelli A, Oranges T, Filippeschi C, Pisaneschi E, Jilani H, Gigola F, Willoughby CE, Morabito A. Callea M, et al. Among authors: jilani h. Ital J Dermatol Venerol. 2023 Feb;158(1):32-38. doi: 10.23736/S2784-8671.23.07540-0. Ital J Dermatol Venerol. 2023. PMID: 36939501 Free article.

3

A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1.

Cammarata-Scalisi F, Matysiak U, Willoughby CE, Ruzaike G, Cárdenas Tadich A, Araya Castillo M, Zara-Chirinos C, Bracho A, Avendaño A, Jilani H, Callea M. Cammarata-Scalisi F, et al. Among authors: jilani h. J Pediatr Genet. 2021 Jul 26;12(4):339-341. doi: 10.1055/s-0041-1732474. eCollection 2023 Dec. J Pediatr Genet. 2021. PMID: 38162154 Free PMC article.

4

A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report.

Jilani H, Hsoumi F, Rejeb I, Elaribi Y, Hizem S, Sebai M, Rolfs A, Benjemaa L. Jilani H, et al. Clin Case Rep. 2022 May 12;10(5):e05846. doi: 10.1002/ccr3.5846. eCollection 2022 May. Clin Case Rep. 2022. PMID: 35592045 Free PMC article.

5

A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.

Maamouri R, Hizem S, Kammoun I, Elaribi Y, Rejeb I, Sebai M, Jilani H, Rouzier C, Cheour M, Paquis-Flucklinger V, Ben Jemaa L. Maamouri R, et al. Among authors: jilani h. Ophthalmic Genet. 2023 Jun;44(3):304-312. doi: 10.1080/13816810.2022.2113546. Epub 2022 Sep 12. Ophthalmic Genet. 2023. PMID: 36094066

6

Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3.

Hizem S, Maamouri R, Zaouak A, Rejeb I, Karoui S, Sebai M, Jilani H, Elaribi Y, Fenniche S, Cheour M, Bilan F, Ben Jemaa L. Hizem S, et al. Among authors: jilani h. Ophthalmic Genet. 2024 Feb;45(1):84-94. doi: 10.1080/13816810.2023.2206891. Epub 2023 May 9. Ophthalmic Genet. 2024. PMID: 37158316

7

Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome.

Azzabi O, Jilani H, Rejeb I, Siala N, Elaribi Y, Hizem S, Selmi I, Halioui S, Lascols O, Jemaa LB, Maherzi A. Azzabi O, et al. Among authors: jilani h. J Pediatr Endocrinol Metab. 2016 Jun 1;29(6):753-6. doi: 10.1515/jpem-2015-0232. J Pediatr Endocrinol Metab. 2016. PMID: 26974131

8

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.

Rejeb I, Jilani H, Elaribi Y, Hizem S, Hila L, Zillahrdt JL, Chelly J, Benjemaa L. Rejeb I, et al. Among authors: jilani h. BMC Med Genet. 2017 Nov 17;18(1):134. doi: 10.1186/s12881-017-0493-5. BMC Med Genet. 2017. PMID: 29149870 Free PMC article.

9

Mucopolysaccharidosis type VII as a cause of recurrent Non-Immune Hydrops Fetalis: The first Tunisian case confirmed by Next-Generation Sequencing.

Hizem S, Elaribi Y, Ben Slama S, Dimassi K, Jilani H, Rejeb I, Sebaï M, Bekri S, Ben Jemaa L. Hizem S, et al. Among authors: jilani h. Clin Chim Acta. 2021 Feb;513:68-70. doi: 10.1016/j.cca.2020.12.027. Epub 2020 Dec 29. Clin Chim Acta. 2021. PMID: 33382994

10

New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene.

Rejeb I, Jerbi M, Jilani H, Gaied H, Elaribi Y, Hizem S, Aoudia R, Hedri H, Zaied C, Abid S, Bacha H, BenAbdallah T, BenJemaa L, Goucha R. Rejeb I, et al. Among authors: jilani h. BMC Med Genomics. 2021 Jun 14;14(1):160. doi: 10.1186/s12920-021-01009-7. BMC Med Genomics. 2021. PMID: 34126972 Free PMC article.

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