U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 28

1.
Clinical presentation of pili torti - Case report
Jeane Jeong Hoon Yang, Karine Valentim Cade, Flavia Cury Rezende, José Marcos Pereira, José Roberto Pereira Pegas
An Bras Dermatol. 2015 May-Jun; 90(3 Suppl 1): 29–31. doi: 10.1590/abd1806-4841.20153540
PMCID:
PMC4540501
AbstractArticlePDF–105K
2.
Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities.
S K Shapira, A S Neish, B R Pober
J Med Genet. 1992 Jul; 29(7): 509–510.
PMCID:
PMC1016033
SummaryPage BrowsePDF–355K
3.
Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome?
J Zlotogora, Y Zilberman, A Tenenbaum, M R Wexler
J Med Genet. 1987 May; 24(5): 291–293. doi: 10.1136/jmg.24.5.291
PMCID:
PMC1050053
SummaryPage BrowsePDF–538K
4.
The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36.
J F Lubianca Neto, L Lu, R D Eavey, M A Flores, R M Caldera, S Sangwatanaroj, J J Schott, B McDonough, J I Santos, C E Seidman, J G Seidman
Am J Hum Genet. 1998 May; 62(5): 1107–1112. doi: 10.1086/301837
PMCID:
PMC1377094
SummaryPDF–470K
5.
Loose Anchoring of Anagen Hairs and Pili Torti due to Erlotinib
Rodrigo Pirmez, Juan Piñeiro-Maceira, Carmen Gloria Gonzalez, Mariya Miteva
Int J Trichology. 2016 Oct-Dec; 8(4): 186–187. doi: 10.4103/ijt.ijt_16_16
PMCID:
PMC5387882
AbstractArticle
6.
Pili Torti as a Sign of Eyebrow Involvement in Frontal Fibrosing Alopecia
Bruno Ferrari, Colombina Vincenzi, Antonella Tosti
Skin Appendage Disord. 2019 Nov; 5(6): 393–395. Published online 2019 Aug 29. doi: 10.1159/000502059
PMCID:
PMC6883447
AbstractArticlePDF–297K
7.
Scanning Electron Microscopy of Erlotinib-induced Hair Changes: Pili Torti et Canaliculi
Hiram Larangeira de Almeida, Jr., Débora Sarzi Sartori, Renan Pinheiro Deves, Otávio Martins Cruz
Int J Trichology. 2019 Nov-Dec; 11(6): 238–240. doi: 10.4103/ijt.ijt_98_19
PMCID:
PMC6984046
AbstractArticle
8.
Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Aleksandra Hoffmann, Anna Waśkiel-Burnat, Jakub Żółkiewicz, Leszek Blicharz, Adriana Rakowska, Mohamad Goldust, Małgorzata Olszewska, Lidia Rudnicka
J Clin Med. 2021 Sep; 10(17): 3901. Published online 2021 Aug 30. doi: 10.3390/jcm10173901
PMCID:
PMC8432236
AbstractArticlePDF–16M
9.
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease
Monika Oláhová, Camilla Ceccatelli Berti, Jack J Collier, Charlotte L Alston, Elisabeth Jameson, Simon A Jones, Noel Edwards, Langping He, Patrick F Chinnery, Rita Horvath, Paola Goffrini, Robert W Taylor, John A Sayer
Hum Mol Genet. 2019 Nov 15; 28(22): 3766–3776. Published online 2019 Aug 22. doi: 10.1093/hmg/ddz202
PMCID:
PMC6935384
AbstractArticlePDF–17M
10.
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Prashant Sharma, Marie Reichert, Yan Lu, Thomas C. Markello, David R. Adams, Peter J. Steinbach, Brie K. Fuqua, Xenia Parisi, Stephen G. Kaler, Christopher D. Vulpe, Gregory J. Anderson, William A. Gahl, May Christine V. Malicdan
PLoS Genet. 2019 May; 15(5): e1008143. Published online 2019 May 24. doi: 10.1371/journal.pgen.1008143
PMCID:
PMC6534290
AbstractArticlePDF–2.6M
11.
Syndromic (phenotypic) diarrhea in early infancy
Olivier Goulet, Christine Vinson, Bertrand Roquelaure, Nicole Brousse, Christine Bodemer, Jean-Pierre Cézard
Orphanet J Rare Dis. 2008; 3: 6. Published online 2008 Feb 28. doi: 10.1186/1750-1172-3-6
PMCID:
PMC2279108
AbstractArticlePDF–564K
12.
A novel mutation in the ubiquinol-cytochrome c reductase synthesis-like gene associated with complex III deficiency and Björnstad syndrome: A case report
Xuncan Liu, Yanfeng Zhang, Jianmin Liang, Si Yang, Chen Chen
Medicine (Baltimore) 2020 Oct 30; 99(44): e23026. Published online 2020 Oct 30. doi: 10.1097/MD.0000000000023026
PMCID:
PMC7598881
AbstractArticlePDF–386K
13.
Menkes Disease in Affected Females: The Clinical Disease Spectrum
P Smpokou, M Samanta, GT Berry, L Hecht, EC Engle, U Lichter-Konecki
Am J Med Genet A. Author manuscript; available in PMC 2015 Mar 6.
Published in final edited form as: Am J Med Genet A. 2015 Feb; 167(2): 417–420. Published online 2014 Nov 26. doi: 10.1002/ajmg.a.36853
PMCID:
PMC4351723
AbstractArticlePDF–135K
14.
Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis
Xin Zhang, Bi-Rong Guo, Li-Qiong Cai, Tao Jiang, Liang-Dan Sun, Yong Cui, Jing-Chu Hu, Jun Zhu, Gang Chen, Xian-Fa Tang, Guang-Qing Sun, Hua-Yang Tang, Yuan Liu, Min Li, Qi-Bin Li, Hui Cheng, Min Gao, Ping Li, Xu Yang, Xian-Bo Zuo, Xiao-Dong Zheng, Pei-Guang Wang, Jian Wang, Jun Wang, Jian-Jun Liu, Sen Yang, Ying-Rui Li, Xue-Jun Zhang
J Med Genet. 2012 Dec; 49(12): 727–730. Published online 2012 Oct 25. doi: 10.1136/jmedgenet-2012-101134
PMCID:
PMC3512347
AbstractArticlePDF–149K
15.
Hair Shaft Abnormalities as a Dermoscopic Feature of Mycosis Fungoides: Pilot Results
Magdalena Jasińska, Joanna Czuwara, Nino Lortkipanidze, Agnieszka Michalczyk, Barbara Borkowska, Patrycja Gajda-Mróz, Marta Kurzeja, Małgorzata Olszewska, Lidia Rudnicka, Adriana Rakowska
Dermatol Ther (Heidelb) 2024 Aug; 14(8): 2119–2126. Published online 2024 Jul 3. doi: 10.1007/s13555-024-01206-z
PMCID:
PMC11333686
AbstractArticlePDF–555K
16.
The Arid Melancholy-Netherton Syndrome With Protein Energy Malnutrition
Sonia Pramod Jain, Pramod Ajit Jain, Neha Pandey
J Clin Diagn Res. 2016 Apr; 10(4): WD01–WD02. Published online 2016 Apr 1. doi: 10.7860/JCDR/2016/18200.7655
PMCID:
PMC4866229
AbstractArticlePDF–1.3M
17.
Marie-Unna Hereditary Hypotrichosis
Sahana M Srinivas, Ravi Hiremagalore
Int J Trichology. 2014 Oct-Dec; 6(4): 182–184. doi: 10.4103/0974-7753.142873
PMCID:
PMC4212298
AbstractArticle
18.
Cutaneous T-cell lymphoma in erythrodermic cases may be suspected on the basis of scalp examination with dermoscopy
Adriana Rakowska, Magdalena Jasińska, Mariusz Sikora, Joanna Czuwara, Patrycja Gajda-Mróz, Olga Warszawik-Hendzel, Małgorzata Kwiatkowska, Anna Waśkiel-Burnat, Małgorzata Olszewska, Lidia Rudnicka
Sci Rep. 2021; 11: 282. Published online 2021 Jan 11. doi: 10.1038/s41598-020-78233-1
PMCID:
PMC7801426
AbstractArticlePDF–1.6M
19.
Trichoscopy update 2011
Lidia Rudnicka, Małgorzata Olszewska, Adriana Rakowska, Monika Slowinska
J Dermatol Case Rep. 2011 Dec 12; 5(4): 82–88. Published online 2011 Dec 12. doi: 10.3315/jdcr.2011.1083
PMCID:
PMC3241952
AbstractArticlePDF–3.0M
20.
In vivo reflectance confocal microscopy: usefulness for diagnosing hair diseases
Lidia Rudnicka, Malgorzata Olszewska, Adriana Rakowska
J Dermatol Case Rep. 2008 Dec 27; 2(4): 55–59. Published online 2008 Dec 27. doi: 10.3315/jdcr.2008.1017
PMCID:
PMC3157780
AbstractArticlePDF–1.4M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center