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Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
Published in:
Nature Genetics, 2012, v. 44, n. 5, p. 586, doi. 10.1038/ng.2229
By:
- Nakazawa, Yuka;
- Sasaki, Kensaku;
- Mitsutake, Norisato;
- Matsuse, Michiko;
- Shimada, Mayuko;
- Nardo, Tiziana;
- Takahashi, Yoshito;
- Ohyama, Kaname;
- Ito, Kosei;
- Mishima, Hiroyuki;
- Nomura, Masayo;
- Kinoshita, Akira;
- Ono, Shinji;
- Takenaka, Katsuya;
- Masuyama, Ritsuko;
- Kudo, Takashi;
- Slor, Hanoch;
- Utani, Atsushi;
- Tateishi, Satoshi;
- Yamashita, Shunichi
Publication type:
Article
Clinical utility gene card for: Xeroderma pigmentosum.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 1, doi. 10.1038/ejhg.2013.233
By:
- Schubert, Steffen;
- Lehmann, Janin;
- Kalfon, Limor;
- Slor, Hanoch;
- Falik-Zaccai, Tzipora C;
- Emmert, Steffen
Publication type:
Article
A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity.
Published in:
Environmental & Molecular Mutagenesis, 2012, v. 53, n. 7, p. 505, doi. 10.1002/em.21716
By:
- Falik-Zaccai, Tzipora C.;
- Erel-Segal, Reut;
- Horev, Liran;
- Bitterman-Deutsch, Ora;
- Koka, Sivan;
- Chaim, Sara;
- Keren, Zohar;
- Kalfon, Limor;
- Gross, Bella;
- Segal, Zvi;
- Orgal, Shlomi;
- Shoval, Yishay;
- Slor, Hanoch;
- Spivak, Graciela;
- Hanawalt, Philip C.
Publication type:
Article
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
Published in:
Carcinogenesis, 2006, v. 27, n. 1, p. 84
By:
- Sikandar G. Khan;
- Kyu-Seon Oh;
- Tala Shahlavi;
- Takahiro Ueda;
- David B. Busch;
- Hiroki Inui;
- Steffen Emmert;
- Kyoko Imoto;
- Vanessa Muniz-Medina;
- Carl C. Baker;
- John J. DiGiovanna;
- Deborah Schmidt;
- Arash Khadavi;
- Ahmet Metin;
- Engin Gozukara;
- Hanoch Slor;
- Alain Sarasin;
- Kenneth H. Kraemer
Publication type:
Article
Xeroderma Pigmentosum-Variant Patients from America, Europe, and Asia.
Published in:
Journal of Investigative Dermatology, 2008, v. 128, n. 8, p. 2055, doi. 10.1038/jid.2008.48
By:
- Inui, Hiroki;
- Oh, Kyu-Seon;
- Nadem, Carine;
- Ueda, Takahiro;
- Khan, Sikandar G.;
- Metin, Ahmet;
- Gozukara, Engin;
- Emmert, Steffen;
- Slor, Hanoch;
- Busch, David B.;
- Baker, Carl C.;
- DiGiovanna, John J.;
- Tamura, Deborah;
- Seitz, Cornelia S.;
- Gratchev, Alexei;
- Wu, Wen Hao;
- Chung, Kee Yang;
- Chung, Hye Jin;
- Azizi, Esther;
- Woodgate, Roger
Publication type:
Article
Relationship of Neurologic Degeneration to Genotype in Three Xeroderma Pigmentosum Group G Patients<sup>1</sup>.
Published in:
Journal of Investigative Dermatology, 2002, v. 118, n. 6, p. 972, doi. 10.1046/j.1523-1747.2002.01782.x
By:
- Emmert, Steffen;
- Slor, Hanoch;
- Busch, David B;
- Batko, Sima;
- Albert, Roberta B;
- Coleman, Donna;
- Khan, Sikandar G;
- Abu-Libdeh, Bassam;
- DiGiovanna, John J;
- Cunningham, Bari B;
- Lee, Myung-Moo;
- Crollick, Jill;
- Inui, Hiroki;
- Ueda, Takahiro;
- Hedayati, Mohammad;
- Grossman, Lawrence;
- Shahlavi, Tala;
- Cleaver, James E;
- Kraemer, Kenneth H
Publication type:
Article
Clinical, Cellular, and Molecular Features of an Israeli Xeroderma Pigmentosum Family with a Frameshift Mutation in the XPC Gene: Sun Protection Prolongs Life.
Published in:
Journal of Investigative Dermatology, 2000, v. 115, n. 6, p. 974, doi. 10.1046/j.1523-1747.2000.00190.x
By:
- Slor, Hanoch;
- Batko, Sima;
- Khan, Sikandar G.;
- Sobe, Tama;
- Emmert, Steffen;
- Khadavi, Arash;
- Frumkin, Azriel;
- Busch, David B.;
- Albert, Roberta B.;
- Kraemer, Kenneth H.
Publication type:
Article
A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32.
Published in:
Annals of Neurology, 2003, v. 54, n. 6, p. 796
By:
- Sergiu C. Blumen;
- Simon Bevan;
- Saif Abu-Mouch;
- David Negus;
- Michael Kahana;
- Rifka Inzelberg;
- Aziz Mazarib;
- Ahmad Mahamid;
- Ralph L. Carasso;
- Hanoch Slor;
- David Withers;
- Puiu Nisipeanu;
- Ruth Navon;
- Evan Reid
Publication type:
Article
DNA repair and recovery of RNA synthesis in uremic patients.
Published in:
Kidney International, 1993, v. 44, n. 2, p. 385, doi. 10.1038/ki.1993.256
By:
- Malachi, Tsipora;
- Zevin, Dina;
- Gafter, Uzi;
- Chagnac, Avry;
- Slor, Hanoch;
- Levi, Joseph
Publication type:
Article

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