Works matching DE "TRICHOTHIODYSTROPHY syndromes"

Results: 28

Trichothiodystrophy without Associated Neuroectodermal Features in Two Siblings.

Published in:

International Journal of Trichology, 2018, v. 10, n. 3, p. 135, doi. 10.4103/ijt.ijt_63_17

By:

Kaur, Jasleen;
Bhalla, Mala;
Thami, Gurvinder Pal

Publication type:

Article

Trichothiodystrophy: Role of a Dermato-Trchologist.

Published in:

2013

By:

Livani, Fatemeh;
Meibodi, Naser Tayebi;
Rajabi, Omid;
Ashrafzadeh, Farah;
Layegh, Pouran

Publication type:

Letter

No thumbs up for the boy!

Published in:

Malaysian Family Physician, 2018, v. 13, n. 2, p. 45

By:

F., Muhamad Effendi;
M. F., Sikkandar

Publication type:

Article

Purple urine bag syndrome: A startling phenomenon of purple urine in a urine drainage bag. A primary care approach and literature review.

Published in:

Malaysian Family Physician, 2018, v. 13, n. 2, p. 42

By:

Y. W. E., Wong;
N., Abdullah

Publication type:

Article

A comparison of FreeSurfer-generated data with and without manual intervention.

Published in:

Frontiers in Neuroscience, 2015, v. 9, p. 1, doi. 10.3389/fnins.2015.00379

By:

McCarthy, Christopher S.;
Ramprashad, Avinash;
Thompson, Carlie;
Botti, Jo-Anna;
Coman, Ioana L.;
Kates, Wendy R.

Publication type:

Article

Hypomyelinating leukodystrophy and movement disorders.

Published in:

Annals of Movement Disorders, 2023, v. 6, n. 2, p. 58, doi. 10.4103/aomd.aomd_1_23

By:

Ganguly, Jacky;
Sinha, Jigyasha;
Basu, Purba;
Pal, Anushree;
Monda, Banashree;
Tiwari, Mona;
Kumar, Hrishikesh

Publication type:

Article

Photosensitive form of trichothiodystrophy associated with a novel mutation in the XPD gene.

Published in:

Photodermatology, Photoimmunology & Photomedicine, 2016, v. 32, n. 2, p. 110, doi. 10.1111/phpp.12225

By:

Brauns, Birka;
Schubert, Steffen;
Lehmann, Janin;
Laspe, Petra;
Körner, Andrea;
Brockmann, Knut;
Schön, Michael P.;
Emmert, Steffen

Publication type:

Article

Clinical, Microscopic and Ultrastructural Findings in a Case of Short Anagen Syndrome.

Published in:

Pediatric Dermatology, 2017, v. 34, n. 4, p. e221, doi. 10.1111/pde.13175

By:

Martin, Jose M.;
Montesinos, Encarnacion;
Sanchez, Sara;
Torres, Catalina;
Ramon, Dolores

Publication type:

Article

Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 5, p. 259, doi. 10.1038/jhg.2015.18

By:

Horibata, Katsuyoshi;
Kono, Sayaka;
Ishigami, Chie;
Zhang, Xue;
Aizawa, Madoka;
Kako, Yuko;
Ishii, Takuma;
Kosaki, Rika;
Saijo, Masafumi;
Tanaka, Kiyoji

Publication type:

Article

Genetics Corner: Trichothiodystrophy 1 Causes Neutropenia in an Infant with Congenital ichthyosis and Brittle Hair.

Published in:

2021

By:

Clark, Robin Dawn;
Ramaanthan, Subhadra

Publication type:

Case Study

Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.

Published in:

Archives of Dermatological Research, 2017, v. 309, n. 10, p. 773, doi. 10.1007/s00403-017-1780-x

By:

Rasheed, Madiha;
Shahzad, Shaheen;
Zaeem, Afifa;
Afzal, Imran;
Gul, Asma;
Khalid, Sumbal

Publication type:

Article

Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation.

Published in:

2017

By:

Uribe-Bojanini, Esteban;
Hernandez-Quiceno, Sara;
Cock-Rada, Alicia María

Publication type:

Case Study

Nucleotide excision repair/transcription gene defects in the fetus and impaired TFIIH-mediated function in transcription in placenta leading to preeclampsia.

Published in:

BMC Genomics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2164-15-373

By:

Moslehi, Roxana;
Ambroggio, Xavier;
Nagarajan, Vijayaraj;
Kumar, Anil;
Dzutsev, Amiran

Publication type:

Article

DNA Repair Dysfunction and Neurodegeneration.

Published in:

Journal of Child Neurology, 2016, v. 31, n. 3, p. 392, doi. 10.1177/0883073815592221

By:

Shabbir, Syed H.

Publication type:

Article

Mutations in the TTDN1 Gene Are Associated with a Distinct Trichothiodystrophy Phenotype.

Published in:

Journal of Investigative Dermatology, 2015, v. 135, n. 3, p. 734, doi. 10.1038/jid.2014.440

By:

Heller, Elizabeth R;
Khan, Sikandar G;
Kuschal, Christiane;
Tamura, Deborah;
DiGiovanna, John J;
Kraemer, Kenneth H

Publication type:

Article

Oxidative and Energy Metabolism as Potential Clues for Clinical Heterogeneity in Nucleotide Excision Repair Disorders.

Published in:

Journal of Investigative Dermatology, 2015, v. 135, n. 2, p. 341, doi. 10.1038/jid.2014.365

By:

Hosseini, Mohsen;
Ezzedine, Khaled;
Taieb, Alain;
Rezvani, Hamid R

Publication type:

Article

Collodion Baby with TGM1 gene mutation.

Published in:

International Medical Case Reports Journal, 2015, v. 8, p. 205, doi. 10.2147/IMCRJ.S91517

By:

Sharma, Deepak;
Gupta, Basudev;
Shastri, Sweta;
Pandita, Aakash;
Pawar, Smita

Publication type:

Article

A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0723-5

By:

Zhou, Yi-Kun;
Yang, Xiao-Chun;
Cao, Yang;
Su, Heng;
Liu, Li;
Liang, Zhi;
Zheng, Yun

Publication type:

Article

Colossal squamous cell carcinoma of the face in a child with Xeroderma Pigmentosum.

Published in:

2014

By:

Shankar, Raghu;
Qureshi, Sajid S.;
Sugoor, Pavan;
Kembhavi, Seema;
Yadav, Prabha S.;
Mukta, Ramadwar

Publication type:

Letter to the Editor

Trichothiodystrophy Identified in a Child with an Odontogenic Infection.

Published in:

Journal of Dentistry for Children, 2024, v. 19, n. 3, p. 146

By:

Gadh, Adit;
Hernández-Nuño de la Rosa, María F.;
Ahson, Imran

Publication type:

Article

Polarized transilluminating dermoscopy.

Published in:

Pediatric Dermatology, 2018, v. 35, n. 1, p. 150, doi. 10.1111/pde.13346

By:

Lacarrubba, Francesco;
Tosti, Antonella

Publication type:

Article

Polarized transilluminating dermoscopy: Bedside trichoscopic diagnosis of trichothiodystrophy.

Published in:

Pediatric Dermatology, 2018, v. 35, n. 1, p. 147, doi. 10.1111/pde.13290

By:

Yang, Yul W.;
Swanson, David L.;
Yarbrough, Kevin;
Russi, Daniela;
Price, Harper N.;
Mitkov, Mario

Publication type:

Article

Trichothiodystrophy: A rare association of brittle hair, ichthyosis, and epilepsy.

Published in:

Indian Journal of Paediatric Dermatology, 2018, v. 19, n. 4, p. 357, doi. 10.4103/ijpd.IJPD_130_17

By:

Asha, G;
Kini, Tapasya;
Chandan, K;
Mahanthesh, P

Publication type:

Article

Análisis de estafas de pacientes en la prensa española. El caso de Paco Sanz, el hombre de los 2.000 tumores y el caso de Nadia, la niña con tricodistrofia.

Published in:

Revista Espanola de Comunicacion en Salud, 2018, v. 9, n. 1, p. 5, doi. 10.20318/recs.2018.4256

By:

López Villafranca, Paloma

Publication type:

Article

British Photodermatology Group Orals.

Published in:: 2016
Publication type:: Abstract

Animals in Dermatology.

Published in:

Indian Journal of Dermatology, 2024, v. 69, n. 4, p. 333, doi. 10.4103/ijd.ijd_502_23

By:

Pandit, Vishalakshi S.;
Yelhanka, R. Rakesh

Publication type:

Article

Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.

Published in:

BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0275-5

By:

Shah, Khadim;
Hussain Ali, Raja;
Ansar, Muhammad;
Lee, Kwanghyuk;
Salman Chishti, Muhammad;
Abbe, Izoduwa;
Biao Li;
Smith, Joshua D.;
Nickerson, Deborah A.;
Shendure, Jay;
Coucke, Paul J.;
Steyaert, Wouter;
Bamshad, Michael J.;
Santos-Cortez, Regie Lyn P.;
Leal, Suzanne M.;
Ahmad, Wasim

Publication type:

Article

Dynamic Partnership between TFIIH, PGC-1α and SIRT1 Is Impaired in Trichothiodystrophy.

Published in:

PLoS Genetics, 2014, v. 10, n. 10, p. 1, doi. 10.1371/journal.pgen.1004732

By:

Traboulsi, Hussein;
Davoli, Serena;
Catez, Philippe;
Egly, Jean-Marc;
Compe, Emmanuel

Publication type:

Article