Literature DB >> 20633800

Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl.

Xiaolong Zhou1, Sikandar G Khan, Deborah Tamura, Nicholas J Patronas, Wadih M Zein, Brian P Brooks, Kenneth H Kraemer, John J DiGiovanna.   

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Year:  2010        PMID： 20633800      PMCID： PMC3464913          DOI： 10.1016/j.jaad.2010.03.041

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN： 0190-9622            Impact factor:   11.527


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  16 in total

1.  The physicochemical properties of hair in the BIDS syndrome.

Authors:  H P Baden; C E Jackson; L Weiss; K Jimbow; L Lee; J Kubilus; R J Gold
Journal:  Am J Hum Genet       Date:  1976-09       Impact factor: 11.025

2.  Trichothiodystrophy--BIDS, IBIDS and PIBIDS?

Authors:  F Crovato; C Borrone; A Rebora
Journal:  Br J Dermatol       Date:  1983-02       Impact factor: 9.302

3.  Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.

Authors:  B C Broughton; M Berneburg; H Fawcett; E M Taylor; C F Arlett; T Nardo; M Stefanini; E Menefee; V H Price; S Queille; A Sarasin; E Bohnert; J Krutmann; R Davidson; K H Kraemer; A R Lehmann
Journal:  Hum Mol Genet       Date:  2001-10-15       Impact factor: 6.150

4.  Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy.

Authors:  Christine Liang; Kenneth H Kraemer; Andrea Morris; Raphael Schiffmann; Vera H Price; Emory Menefee; John J DiGiovanna
Journal:  J Am Acad Dermatol       Date:  2005-02       Impact factor: 11.527

5.  Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.

Authors:  Kazuhiko Nakabayashi; Daniela Amann; Yan Ren; Ulpu Saarialho-Kere; Nili Avidan; Simone Gentles; Jeffrey R MacDonald; Erik G Puffenberger; Angela M Christiano; Amalia Martinez-Mir; Julio C Salas-Alanis; Renata Rizzo; Esther Vamos; Anja Raams; Clifford Les; Eric Seboun; Nicolaas G J Jaspers; Jacques S Beckmann; Charles E Jackson; Stephen W Scherer
Journal:  Am J Hum Genet       Date:  2005-01-11       Impact factor: 11.025

6.  Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development.

Authors:  R Moslehi; C Signore; D Tamura; J L Mills; J J Digiovanna; M A Tucker; J Troendle; T Ueda; J Boyle; S G Khan; K-S Oh; A M Goldstein; K H Kraemer
Journal:  Clin Genet       Date:  2009-12-10       Impact factor: 4.438

7.  Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex.

Authors:  V H Price; R B Odom; W H Ward; F T Jones
Journal:  Arch Dermatol       Date:  1980-12

8.  Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases.

Authors:  K H Kraemer; M M Lee; J Scotto
Journal:  Arch Dermatol       Date:  1987-02

9.  The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm.

Authors:  K H Kraemer; M M Lee; A D Andrews; W C Lambert
Journal:  Arch Dermatol       Date:  1994-08

10.  Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities. A link between the ichthyosis-associated and BIDS syndromes.

Authors:  J L Jorizzo; R G Crounse; C E Wheeler
Journal:  J Am Acad Dermatol       Date:  1980-04       Impact factor: 11.527
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  6 in total

1.  Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.

Authors:  Deborah Tamura; Sikandar G Khan; Melissa Merideth; John J DiGiovanna; Margaret A Tucker; Alisa M Goldstein; Kyu-Seon Oh; Takahiro Ueda; Jennifer Boyle; Mansi Sarihan; Kenneth H Kraemer
Journal:  Eur J Hum Genet       Date:  2012-05-23       Impact factor: 4.246

2.  Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.

Authors:  Xiaolong Zhou; Sikandar G Khan; Deborah Tamura; Takahiro Ueda; Jennifer Boyle; Emmanuel Compe; Jean-Marc Egly; John J DiGiovanna; Kenneth H Kraemer
Journal:  Eur J Hum Genet       Date:  2012-12-12       Impact factor: 4.246

3.  High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.

Authors:  Deborah Tamura; Melissa Merideth; John J DiGiovanna; Xiaolong Zhou; Margaret A Tucker; Alisa M Goldstein; Brian P Brooks; Sikandar G Khan; Kyu-Seon Oh; Takahiro Ueda; Jennifer Boyle; Roxana Moslehi; Kenneth H Kraemer
Journal:  Prenat Diagn       Date:  2011-07-29       Impact factor: 3.050

4.  Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta.

Authors:  Roxana Moslehi; Anil Kumar; James L Mills; Xavier Ambroggio; Caroline Signore; Amiran Dzutsev
Journal:  Eur J Hum Genet       Date:  2012-01-11       Impact factor: 4.246

5.  Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype.

Authors:  Elizabeth R Heller; Sikandar G Khan; Christiane Kuschal; Deborah Tamura; John J DiGiovanna; Kenneth H Kraemer
Journal:  J Invest Dermatol       Date:  2014-10-07       Impact factor: 8.551

6.  Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.

Authors:  Andreas Rump; Anna Benet-Pages; Steffen Schubert; Jan Dominik Kuhlmann; Ramūnas Janavičius; Eva Macháčková; Lenka Foretová; Zdenek Kleibl; Filip Lhota; Petra Zemankova; Elitza Betcheva-Krajcir; Luisa Mackenroth; Karl Hackmann; Janin Lehmann; Anke Nissen; Nataliya DiDonato; Romy Opitz; Holger Thiele; Karin Kast; Pauline Wimberger; Elke Holinski-Feder; Steffen Emmert; Evelin Schröck; Barbara Klink
Journal:  PLoS Genet       Date:  2016-08-09       Impact factor: 5.917
  6 in total

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