Literature DB >> 26211814

Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia.

M Jerbi1, M Ben Rekaya1, C Naouali1, M Jones1,2, O Messaoud1, H Tounsi3, M Nagara1, M Chargui1, R Kefi1, H Boussen4, M Mokni5,6, R Mrad7, M S Boubaker3, S Abdelhak2, A Khaled2, M Zghal2, H Yacoub-Youssef1.   

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Year:  2015        PMID： 26211814     DOI： 10.1111/bjd.14046

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  10 in total

1.  Familial predisposition to TP53/complex karyotype MDS and leukemia in DNA repair-deficient xeroderma pigmentosum.

Authors:  Alain Sarasin; Samuel Quentin; Nathalie Droin; Mourad Sahbatou; Véronique Saada; Nathalie Auger; Yannick Boursin; Philippe Dessen; Anna Raimbault; Vahid Asnafi; Jean-Luc Schmutz; Alain Taïeb; Carlos F M Menck; Filippo Rosselli; Laurianne Drieu La Rochelle; Caroline Robert; Flore Sicre de Fontbrune; Marie Sébert; Thierry Leblanc; Patricia Kannouche; Stéphane De Botton; Eric Solary; Jean Soulier
Journal:  Blood       Date:  2019-03-26       Impact factor: 22.113

Review 2.  Therapeutics of xeroderma pigmentosum: A PRISMA-compliant systematic review.

Authors:  Fernando Antônio Gomes de Andrade; Claudio Eduardo de Oliveira Cavalcanti; Felipe Contoli Isoldi; Lydia Masako Ferreira
Journal:  Indian J Dermatol Venereol Leprol       Date:  2021 Mar-Apr       Impact factor: 2.545

Review 3.  Xeroderma Pigmentosum: A Model for Human Premature Aging.

Authors:  Elizabeth R H Rizza; John J DiGiovanna; Sikandar G Khan; Deborah Tamura; Jack D Jeskey; Kenneth H Kraemer
Journal:  J Invest Dermatol       Date:  2021-01-09       Impact factor: 8.551

4.  Genetics and genomic medicine in Tunisia.

Authors:  Houda Elloumi-Zghal; Habiba Chaabouni Bouhamed
Journal:  Mol Genet Genomic Med       Date:  2018-03       Impact factor: 2.183

5.  Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype.

Authors:  Asma Chikhaoui; Sahar Elouej; Imen Nabouli; Meriem Jones; Arnaud Lagarde; Meriem Ben Rekaya; Olfa Messaoud; Yosr Hamdi; Mohamed Zghal; Valerie Delague; Nicolas Levy; Annachiara De Sandre-Giovannoli; Sonia Abdelhak; Houda Yacoub-Youssef
Journal:  Front Genet       Date:  2019-02-14       Impact factor: 4.599

6.  Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins.

Authors:  Eman Rabie; Khalda Amr; Suher Zada; Heba El-Sayed; Mohamad El Darouti; Ghada El-Kamah
Journal:  Genes (Basel)       Date:  2021-02-20       Impact factor: 4.096

7.  Increased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts.

Authors:  Sergey Nikolaev; Andrey A Yurchenko; Alain Sarasin
Journal:  Orphanet J Rare Dis       Date:  2022-03-04       Impact factor: 4.123

8.  Inflammatory landscape in Xeroderma pigmentosum patients with cutaneous melanoma.

Authors:  Asma Chikhaoui; Meriem Jones; Tadeja Režen; Melika Ben Ahmed; Chokri Naouali; Radovan Komel; Mohamed Zghal; Samir Boubaker; Sonia Abdelhak; Houda Yacoub-Youssef
Journal:  Sci Rep       Date:  2022-08-16       Impact factor: 4.996

9.  Thyroid nodules in xeroderma pigmentosum patients: a feature of premature aging.

Authors:  S D Kouatcheu; J Marko; D Tamura; S G Khan; C R Lee; J J DiGiovanna; K H Kraemer
Journal:  J Endocrinol Invest       Date:  2020-11-05       Impact factor: 5.467

10.  XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature.

Authors:  Andrey A Yurchenko; Ismael Padioleau; Bakhyt T Matkarimov; Jean Soulier; Alain Sarasin; Sergey Nikolaev
Journal:  Nat Commun       Date:  2020-11-17       Impact factor: 14.919
  10 in total

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