136 related articles for article (PubMed ID: 30359777)
1. A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report.
Michalska E; Koppolu A; Dobrzańska A; Płoski R; Gruszfeld D
Eur J Med Genet; 2019 Sep; 62(9):103557. PubMed ID: 30359777
[TBL] [Abstract][Full Text] [Related]
2. Trichothiodystrophy group A: a first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene.
Moriwaki S; Saruwatari H; Kanzaki T; Kanekura T; Minoshima S
J Dermatol; 2014 Aug; 41(8):705-8. PubMed ID: 24986372
[TBL] [Abstract][Full Text] [Related]
3. Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay syndrome.
Lambert WC; Gagna CE; Lambert MW
Adv Exp Med Biol; 2010; 685():106-10. PubMed ID: 20687499
[TBL] [Abstract][Full Text] [Related]
4. PIBIDS syndrome in two Brazilian siblings.
Abagge KT; Haupenthal F; Felber GY; Raskin S
BMJ Case Rep; 2018 Dec; 11(1):. PubMed ID: 30580289
[TBL] [Abstract][Full Text] [Related]
5. [Trichothiodystrophy: progresssive manifestations].
Foulc P; Jumbou O; David A; Sarasin A; Stalder JF
Ann Dermatol Venereol; 1999 Oct; 126(10):703-7. PubMed ID: 10604009
[TBL] [Abstract][Full Text] [Related]
6. Trichothiodystrophy: from basic mechanisms to clinical implications.
Stefanini M; Botta E; Lanzafame M; Orioli D
DNA Repair (Amst); 2010 Jan; 9(1):2-10. PubMed ID: 19931493
[TBL] [Abstract][Full Text] [Related]
7. New clinico-genetic classification of trichothiodystrophy.
Morice-Picard F; Cario-André M; Rezvani H; Lacombe D; Sarasin A; Taïeb A
Am J Med Genet A; 2009 Sep; 149A(9):2020-30. PubMed ID: 19681155
[TBL] [Abstract][Full Text] [Related]
8. Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.
Theil AF; Botta E; Raams A; Smith DEC; Mendes MI; Caligiuri G; Giachetti S; Bione S; Carriero R; Liberi G; Zardoni L; Swagemakers SMA; Salomons GS; Sarasin A; Lehmann A; van der Spek PJ; Ogi T; Hoeijmakers JHJ; Vermeulen W; Orioli D
Am J Hum Genet; 2019 Aug; 105(2):434-440. PubMed ID: 31374204
[TBL] [Abstract][Full Text] [Related]
9. A Japanese trichothiodystrophy patient with XPD mutations.
Usuda T; Saijo M; Tanaka K; Sato N; Uchiyama M; Kobayashi T
J Hum Genet; 2011 Jan; 56(1):77-9. PubMed ID: 20944642
[TBL] [Abstract][Full Text] [Related]
10. Trichothiodystrophy view from the molecular basis of DNA repair/transcription factor TFIIH.
Hashimoto S; Egly JM
Hum Mol Genet; 2009 Oct; 18(R2):R224-30. PubMed ID: 19808800
[TBL] [Abstract][Full Text] [Related]
11. Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant.
Sorrentino U; Agosto C; Benini F; Bertolin C; Cassina M; Bonadies L; Caroppo F; Fortina AB; Salviati L
Clin Genet; 2023 Nov; 104(5):604-606. PubMed ID: 37356817
[TBL] [Abstract][Full Text] [Related]
12. Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes.
Itin PH; Sarasin A; Pittelkow MR
J Am Acad Dermatol; 2001 Jun; 44(6):891-920; quiz 921-4. PubMed ID: 11369901
[TBL] [Abstract][Full Text] [Related]
13. A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred.
Pode-Shakked B; Marek-Yagel D; Greenberger S; Pode-Shakked N; Pras E; Barzilai A; Yassin S; Sidi Y; Anikster Y
Eur J Med Genet; 2015 Dec; 58(12):685-8. PubMed ID: 26518168
[TBL] [Abstract][Full Text] [Related]
14. Analysis of mutations in the XPD gene in a patient with brittle hair.
Shin S; Kim J; Kim Y; Sun JY; Yoo JH; Lee KA
Ann Clin Lab Sci; 2013; 43(3):323-7. PubMed ID: 23884229
[TBL] [Abstract][Full Text] [Related]
15. Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.
Faghri S; Tamura D; Kraemer KH; Digiovanna JJ
J Med Genet; 2008 Oct; 45(10):609-21. PubMed ID: 18603627
[TBL] [Abstract][Full Text] [Related]
16. Trichothiodystrophy: clinical spectrum, central nervous system imaging, and biochemical characterization of two siblings.
Chen E; Cleaver JE; Weber CA; Packman S; Barkovich AJ; Koch TK; Williams ML; Golabi M; Price VH
J Invest Dermatol; 1994 Nov; 103(5 Suppl):154S-158S. PubMed ID: 7963680
[TBL] [Abstract][Full Text] [Related]
17. Novel ERCC2 mutation in two siblings with trichothiodystrophy.
Lund EB; Stein SL
Pediatr Dermatol; 2019 Sep; 36(5):668-671. PubMed ID: 31282071
[TBL] [Abstract][Full Text] [Related]
18. Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue.
Theil AF; Mandemaker IK; van den Akker E; Swagemakers SMA; Raams A; Wüst T; Marteijn JA; Giltay JC; Colombijn RM; Moog U; Kotzaeridou U; Ghazvini M; von Lindern M; Hoeijmakers JHJ; Jaspers NGJ; van der Spek PJ; Vermeulen W
Hum Mol Genet; 2017 Dec; 26(23):4689-4698. PubMed ID: 28973399
[TBL] [Abstract][Full Text] [Related]
19. A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.
Corbett MA; Dudding-Byth T; Crock PA; Botta E; Christie LM; Nardo T; Caligiuri G; Hobson L; Boyle J; Mansour A; Friend KL; Crawford J; Jackson G; Vandeleur L; Hackett A; Tarpey P; Stratton MR; Turner G; Gécz J; Field M
J Med Genet; 2015 Apr; 52(4):269-74. PubMed ID: 25612912
[TBL] [Abstract][Full Text] [Related]
20. Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China.
Chen JD; Liao WD; Wen LY; Zhong RH
BMC Pediatr; 2021 Mar; 21(1):123. PubMed ID: 33711971
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]