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1.

Trichothiodystrophy hair shafts display distinct ultrastructural features.

Ioannidis, Angeliki-Diotima; Khan, Sikandar G; Tamura, Deborah; DiGiovanna, John J; Rizza, Elizabeth; Kraemer, Kenneth H; Rice, Robert H.

Exp Dermatol; 31(8): 1270-1275, 2022 08.

Artículo en Inglés | MEDLINE | ID: mdl-35615778

2.

Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis.

DiGiovanna, John J; Randall, Grant; Edelman, Alexandra; Allawh, Rina; Xiong, Michael; Tamura, Deborah; Khan, Sikandar G; Rizza, Elizabeth R H; Reynolds, James C; Paul, Scott M; Hill, Suvimol C; Kraemer, Kenneth H.

Am J Med Genet A; 188(12): 3448-3462, 2022 12.

Artículo en Inglés | MEDLINE | ID: mdl-36103153

3.

Hydroa vacciniforme-like lymphoproliferative disorder: an EBV disease with a low risk of systemic illness in whites.

Cohen, Jeffrey I; Manoli, Irini; Dowdell, Kennichi; Krogmann, Tammy A; Tamura, Deborah; Radecki, Pierce; Bu, Wei; Turk, Siu-Ping; Liepshutz, Kelly; Hornung, Ronald L; Fassihi, Hiva; Sarkany, Robert P; Bonnycastle, Lori L; Chines, Peter S; Swift, Amy J; Myers, Timothy G; Levoska, Melissa A; DiGiovanna, John J; Collins, Francis S; Kraemer, Kenneth H; Pittaluga, Stefania; Jaffe, Elaine S.

Blood; 133(26): 2753-2764, 2019 06 27.

Artículo en Inglés | MEDLINE | ID: mdl-31064750

4.

Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies.

Lehky, Tanya J; Sackstein, Paul; Tamura, Deborah; Quezado, Martha; Wu, Tianxia; Khan, Sikandar G; Patronas, Nicholas J; Wiggs, Edythe; Brewer, Carmen C; DiGiovanna, John J; Kraemer, Kenneth H.

BMC Neurol; 21(1): 393, 2021 Oct 09.

Artículo en Inglés | MEDLINE | ID: mdl-34627174

5.

Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape.

Oska, Sandra R; Tamura, Deborah; Blau, Jenny E; Khan, Sikandar G; Kraemer, Kenneth H; DiGiovanna, John J.

Pediatr Dermatol; 38(4): 913-918, 2021 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-34105807

6.

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.

Kuschal, Christiane; Botta, Elena; Orioli, Donata; Digiovanna, John J; Seneca, Sara; Keymolen, Kathelijn; Tamura, Deborah; Heller, Elizabeth; Khan, Sikandar G; Caligiuri, Giuseppina; Lanzafame, Manuela; Nardo, Tiziana; Ricotti, Roberta; Peverali, Fiorenzo A; Stephens, Robert; Zhao, Yongmei; Lehmann, Alan R; Baranello, Laura; Levens, David; Kraemer, Kenneth H; Stefanini, Miria.

Am J Hum Genet; 98(4): 627-42, 2016 Apr 07.

Artículo en Inglés | MEDLINE | ID: mdl-26996949

7.

Increased risk of skin cancer in Japanese heterozygotes of xeroderma pigmentosum group A.

Hirai, Yuko; Noda, Asao; Kodama, Yoshiaki; Cordova, Kismet A; Cullings, Harry M; Yonehara, Shuji; Fujihara, Megumu; Moriwaki, Shin-Ichi; Nishigori, Chikako; Mabuchi, Kiyohiko; Kraemer, Kenneth H; Nakamura, Nori.

J Hum Genet; 63(11): 1181-1184, 2018 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-30089811

8.

Recurrent scarring papulovesicular lesions on sun-exposed skin in a 22-year-old man.

Levoska, Melissa A; Cohen, Jeffrey I; Manoli, Irini; Richard Lee, Chyi-Chia; Ching, Steven S T; Shand, Jessica; Tamura, Deborah; Kraemer, Kenneth H; DiGiovanna, John J.

J Am Acad Dermatol; 78(3): 637-642, 2018 03.

Artículo en Inglés | MEDLINE | ID: mdl-28964535

9.

Knowledge is power.

DiGiovanna, John J; Kraemer, Kenneth H.

Br J Dermatol; 186(4): 607-608, 2022 04.

Artículo en Inglés | MEDLINE | ID: mdl-35355250

10.

Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.

Kuschal, Christiane; DiGiovanna, John J; Khan, Sikandar G; Gatti, Richard A; Kraemer, Kenneth H.

Proc Natl Acad Sci U S A; 110(48): 19483-8, 2013 Nov 26.

Artículo en Inglés | MEDLINE | ID: mdl-24218596

11.

Predisposition to hematologic malignancies in patients with xeroderma pigmentosum.

Oetjen, Karolyn A; Levoska, Melissa A; Tamura, Deborah; Ito, Sawa; Douglas, Dorothea; Khan, Sikandar G; Calvo, Katherine R; Kraemer, Kenneth H; DiGiovanna, John J.

Haematologica; 105(4): e144-e146, 2020 04.

Artículo en Inglés | MEDLINE | ID: mdl-31439674

12.

Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients.

Kuschal, Christiane; Khan, Sikandar G; Enk, Benedikt; DiGiovanna, John J; Kraemer, Kenneth H.

Exp Dermatol; 24(4): 296-7, 2015 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-25651777

13.

Mortality-associated immunological abnormalities in trichothiodystrophy: correlation of reduced levels of immunoglobulin and neutrophils with poor patient survival.

Randall, Grant; Kraemer, Kenneth H; Pugh, Jennifer; Tamura, Deborah; DiGiovanna, John J; Khan, Sikandar G; Oetjen, Karolyn A.

Br J Haematol; 185(4): 752-754, 2019 05.

Artículo en Inglés | MEDLINE | ID: mdl-30334570

14.

Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.

Totonchy, Mariam B; Tamura, Deborah; Pantell, Matthew S; Zalewski, Christopher; Bradford, Porcia T; Merchant, Saumil N; Nadol, Joseph; Khan, Sikandar G; Schiffmann, Raphael; Pierson, Tyler Mark; Wiggs, Edythe; Griffith, Andrew J; DiGiovanna, John J; Kraemer, Kenneth H; Brewer, Carmen C.

Brain; 136(Pt 1): 194-208, 2013 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-23365097

15.

Growth and nutrition in children with trichothiodystrophy.

Atkinson, Emily C; Thiara, Diana; Tamura, Deborah; DiGiovanna, John J; Kraemer, Kenneth H; Hadigan, Colleen.

J Pediatr Gastroenterol Nutr; 59(4): 458-64, 2014 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-24918982

16.

Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients.

Tamura, Deborah; DiGiovanna, John J; Khan, Sikandar G; Kraemer, Kenneth H.

Photodermatol Photoimmunol Photomed; 30(2-3): 146-52, 2014.

Artículo en Inglés | MEDLINE | ID: mdl-24417420

17.

Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency.

Tan, Xiaohui; Anzick, Sarah L; Khan, Sikandar G; Ueda, Takahiro; Stone, Gary; Digiovanna, John J; Tamura, Deborah; Wattendorf, Daniel; Busch, David; Brewer, Carmen C; Zalewski, Christopher; Butman, John A; Griffith, Andrew J; Meltzer, Paul S; Kraemer, Kenneth H.

Hum Mutat; 34(9): 1250-9, 2013 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-23661601

18.

Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage.

Brooks, Brian P; Thompson, Amy H; Bishop, Rachel J; Clayton, Janine A; Chan, Chi-Chao; Tsilou, Ekaterini T; Zein, Wadih M; Tamura, Deborah; Khan, Sikandar G; Ueda, Takahiro; Boyle, Jennifer; Oh, Kyu-Seon; Imoto, Kyoko; Inui, Hiroki; Moriwaki, Shin-Ichi; Emmert, Steffen; Iliff, Nicholas T; Bradford, Porcia; Digiovanna, John J; Kraemer, Kenneth H.

Ophthalmology; 120(7): 1324-36, 2013 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-23601806

19.

Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers.

Fernandez, Elvelyn R; Tamura, Deborah; Khan, Sikandar G; Momen, Sophie; Fassihi, Hiva; Sarkany, Robert; DiGiovanna, John J; Kraemer, Kenneth H.

Front Oncol; 13: 1282823, 2023.

Artículo en Inglés | MEDLINE | ID: mdl-37954081

20.

Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities.

Moriwaki, Shinichi; Takigawa, Masahiro; Igarashi, Naoya; Nagai, Yayoi; Amano, Hiroo; Ishikawa, Osamu; Khan, Sikandar G; Kraemer, Kenneth H.

Exp Dermatol; 21(4): 304-7, 2012 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-22417308

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