Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.
about
Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal developmentTrichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestationsPhotosensitive human syndromesPedHunter 2.0 and its usage to characterize the founder structure of the Old Order Amish of Lancaster County.Premature aging and cancer in nucleotide excision repair-disorders.A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.DNA repair mechanisms in dividing and non-dividing cells.Pollitt syndrome patients carry mutation in TTDN1.Ocular manifestations of trichothiodystrophyMitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype.Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl.GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient TrichothiodystrophyAbnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.To grow or not to grow: hair morphogenesis and human genetic hair disordersFurther insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review.Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repair.Trichothiodystrophy group A: a first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene.A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship.
P2860
Q24631400-A549174F-B422-4E94-8123-1635764BFD3AQ24633351-90659D75-2884-44B0-93A1-518F01C8D788Q26800642-52534735-9E6A-409F-9F40-0C0B6560975FQ33569367-5FAB7BAF-4830-40DB-9396-59A023665E6EQ34025252-620994D8-7FA0-41C0-87AF-228FFC1A3B7EQ34459250-CEFA8CC6-4D99-445C-B7B0-14AE6C1BC373Q34727858-6BC9278D-4183-4340-9288-78497D047C51Q34879283-EF3E5642-252C-407B-AE00-51BA8E5221EBQ35592622-BE2C4B12-F8C4-4889-B2E1-F58F5C2FFEBAQ35924632-A93E40E9-811E-4CAD-A3C5-22D970E889C8Q35933524-6AA6E0EE-54AC-44F8-8D2F-9982E0120EA7Q36299492-545FF386-2CB4-4C62-9333-8ED472A0A610Q36802296-C3C85E55-9F87-4E23-ADC0-4AADC73BA2DCQ37043787-D557C3C5-20CE-4F8D-AC28-D3182E6E6A35Q37705212-127BB55A-4069-4DE9-882A-747D124675E3Q38062522-3D877294-A9BC-473D-B8AB-0885D40C62BDQ39393194-444B7354-6F25-42F7-8519-2D999B94E8CBQ47396526-76B8896B-59DA-4733-AC7D-FC155E2A9245Q50635047-2AA1EF0A-CC40-4972-AA75-BFF9B31F5EBAQ51305766-C9FD03BF-DF9C-468B-A57E-A13A1F6C66AD
P2860
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.
description
2005 nî lūn-bûn
@nan
2005 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Identification of C7orf11 (TTD ...... osensitive trichothiodystrophy
@nl
Identification of C7orf11 (TTD ...... sensitive trichothiodystrophy.
@ast
Identification of C7orf11 (TTD ...... sensitive trichothiodystrophy.
@en
Identification of C7orf11 (TTD ...... sensitive trichothiodystrophy.
@en-gb
type
label
Identification of C7orf11 (TTD ...... osensitive trichothiodystrophy
@nl
Identification of C7orf11 (TTD ...... sensitive trichothiodystrophy.
@ast
Identification of C7orf11 (TTD ...... sensitive trichothiodystrophy.
@en
Identification of C7orf11 (TTD ...... sensitive trichothiodystrophy.
@en-gb
prefLabel
Identification of C7orf11 (TTD ...... osensitive trichothiodystrophy
@nl
Identification of C7orf11 (TTD ...... sensitive trichothiodystrophy.
@ast
Identification of C7orf11 (TTD ...... sensitive trichothiodystrophy.
@en
Identification of C7orf11 (TTD ...... sensitive trichothiodystrophy.
@en-gb
P2093
P2860
P50
P3181
P356
P1476
Identification of C7orf11 (TTD ...... sensitive trichothiodystrophy.
@en
P2093
Amalia Martinez-Mir
Angela M Christiano
Anja Raams
Charles E Jackson
Clifford Les
Daniela Amann
Eric Seboun
Esther Vamos
Julio C Salas-Alanis
Kazuhiko Nakabayashi
P2860
P304
P3181
P356
10.1086/428141
P407
P50
P577
2005-01-11T00:00:00Z