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Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis.
Ben Rekaya, Mariem; Naouali, Chokri; Messaoud, Olfa; Jones, Meriem; Bouyacoub, Yosra; Nagara, Majdi; Pippucci, Tommaso; Jmel, Haifa; Chargui, Mariem; Jerbi, Manel; Alibi, Mohamed; Dallali, Hamza; Bashamboo, Anu; McElreavey, Kenneth; Romeo, Giovanni; Barakat, Abdelhamid; Zghal, Mohamed; Yacoub-Youssef, Houda; Abdelhak, Sonia.
Afiliação
  • Ben Rekaya M; Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), Institut Pasteur de Tunis, Université Tunis El Manar, El Manar I, 2092 Tunis, Tunisia. Electronic address: mariem.benrekaya@pasteur.rns.tn.
  • Naouali C; Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), Institut Pasteur de Tunis, Université Tunis El Manar, El Manar I, 2092 Tunis, Tunisia.
  • Messaoud O; Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), Institut Pasteur de Tunis, Université Tunis El Manar, El Manar I, 2092 Tunis, Tunisia.
  • Jones M; Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), Institut Pasteur de Tunis, Université Tunis El Manar, El Manar I, 2092 Tunis, Tunisia; Dermatology Department, Hospital Charles Nicolle, 1006 Tunis, Tunisia.
  • Bouyacoub Y; Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), Institut Pasteur de Tunis, Université Tunis El Manar, El Manar I, 2092 Tunis, Tunisia.
  • Nagara M; Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), Institut Pasteur de Tunis, Université Tunis El Manar, El Manar I, 2092 Tunis, Tunisia.
  • Pippucci T; Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
  • Jmel H; Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), Institut Pasteur de Tunis, Université Tunis El Manar, El Manar I, 2092 Tunis, Tunisia.
  • Chargui M; Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), Institut Pasteur de Tunis, Université Tunis El Manar, El Manar I, 2092 Tunis, Tunisia.
  • Jerbi M; Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), Institut Pasteur de Tunis, Université Tunis El Manar, El Manar I, 2092 Tunis, Tunisia.
  • Alibi M; Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), Institut Pasteur de Tunis, Université Tunis El Manar, El Manar I, 2092 Tunis, Tunisia.
  • Dallali H; Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), Institut Pasteur de Tunis, Université Tunis El Manar, El Manar I, 2092 Tunis, Tunisia.
  • Bashamboo A; Human Developmental Genetics, Institut Pasteur de Paris, France.
  • McElreavey K; Human Developmental Genetics, Institut Pasteur de Paris, France.
  • Romeo G; Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
  • Barakat A; Laboratoire de génétique moléculaire humaine, département de recherche scientifique, Institut Pasteur, 20360 Casablanca, Morocco.
  • Zghal M; Dermatology Department, Hospital Charles Nicolle, 1006 Tunis, Tunisia.
  • Yacoub-Youssef H; Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), Institut Pasteur de Tunis, Université Tunis El Manar, El Manar I, 2092 Tunis, Tunisia.
  • Abdelhak S; Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), Institut Pasteur de Tunis, Université Tunis El Manar, El Manar I, 2092 Tunis, Tunisia.
J Dermatol Sci ; 89(2): 172-180, 2018 Feb.
Article em En | MEDLINE | ID: mdl-29169765
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Xeroderma Pigmentoso / Proteínas de Ligação a DNA / Proteína Grupo D do Xeroderma Pigmentoso Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Humans País/Região como assunto: Africa Idioma: En Revista: J Dermatol Sci Assunto da revista: DERMATOLOGIA Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Xeroderma Pigmentoso / Proteínas de Ligação a DNA / Proteína Grupo D do Xeroderma Pigmentoso Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Humans País/Região como assunto: Africa Idioma: En Revista: J Dermatol Sci Assunto da revista: DERMATOLOGIA Ano de publicação: 2018 Tipo de documento: Article