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Picture of the month. Pili torti.
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57
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Gelles LN
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1999 |
2 |
An update of hair shaft disorders.
57
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Dawber RP
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9238334 |
1996 |
3 |
[Neonatal onset of Menkes disease: diagnosis interest of cupremia and microscopic examination of the hairs].
53
62
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Maury A...Labarthe F
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17651950 |
2007 |
4 |
In vivo alteration of the keratin 17 gene in hair follicles by oligonucleotide-directed gene targeting.
53
62
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Fan W...Yoon K
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14714564 |
2003 |
5 |
Keratin 17 expression in the hard epithelial context of the hair and nail, and its relevance for the pachyonychia congenita phenotype.
53
62
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McGowan KM...Coulombe PA
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10844551 |
2000 |
6 |
Menkes' disease: report of a case and determination of eumelanin and pheomelanin in hypopigmented hair.
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62
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Tomita Y...Tagami H
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1638075 |
1992 |
7 |
Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome.
62
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Guo W...Shao L
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35960161 |
2022 |
8 |
Usefulness of Trichoscopy over Hair Light Microscopy in Menkes Disease.
62
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Saez-de-Ocariz M...Duran-McKinster C
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35118132 |
2022 |
9 |
The trichoscopic features of hair shaft anomalies induced by epidermal growth factor receptor inhibitors: A case series.
62
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Kremer N...Amitay-Laish I
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32244022 |
2021 |
10 |
Pili Torti: A Feature of Numerous Congenital and Acquired Conditions.
62
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Hoffmann A...Rudnicka L
|
34501349 |
2021 |
11 |
Tuning the reversibility of hair artificial muscles by disulfide cross-linking for sensors, switches, and soft robotics.
62
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Leng X...Liu Z
|
34846462 |
2021 |
12 |
Single hair fiber assessment techniques to discriminate between mineral oil and coconut oil effect on hair physical properties.
62
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Kaushik V...Mhaskar S
|
32949101 |
2021 |
13 |
Clinical, trichoscopy, and light microscopic findings in hypohidrotic ectodermal dysplasia: Report of 21 patients and a review of the literature.
62
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Pena-Romero AG...Duran-McKinster C
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33085121 |
2021 |
14 |
Cutaneous T-cell lymphoma in erythrodermic cases may be suspected on the basis of scalp examination with dermoscopy.
62
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Rakowska A...Rudnicka L
|
33431905 |
2021 |
15 |
A novel mutation in the ubiquinol-cytochrome c reductase synthesis-like gene associated with complex III deficiency and Björnstad syndrome: A case report.
62
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Liu X...Chen C
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33126389 |
2020 |
16 |
Clouston syndrome with pili canaliculi, pili torti, overgrown hyponychium, onycholysis, taurodontism and absence of palmoplantar keratoderma.
62
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Kantaputra P...Chuamanochan M
|
32220018 |
2020 |
17 |
Scanning Electron Microscopy of Subclinical Gefitinib-Induced Hair Changes.
62
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de Almeida HL...Zerwes G
|
33223740 |
2020 |
18 |
Scanning Electron Microscopy of Erlotinib-induced Hair Changes: Pili Torti et Canaliculi.
62
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de Almeida HL...Cruz OM
|
32030058 |
2019 |
19 |
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.
62
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Olahova M...Sayer JA
|
31435670 |
2019 |
20 |
Pili Torti as a Sign of Eyebrow Involvement in Frontal Fibrosing Alopecia.
62
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Ferrari B...Tosti A
|
31799271 |
2019 |
21 |
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.
62
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Sharma P...Malicdan MCV
|
31125343 |
2019 |
22 |
Acquired Pili Torti.
62
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Evans JB...Kaffenberger BH
|
30810707 |
2019 |
23 |
Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships.
62
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Baker RA...Mark PR
|
30582773 |
2019 |
24 |
Trichoscopy in Hair Shaft Disorders.
62
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Rudnicka L...Rakowska A
|
30201151 |
2018 |
25 |
Pili torti, pale and elastic skin, and severe neurological impairment.
62
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Gironi LC...Colombo E
|
29288599 |
2018 |
26 |
Pili torti, bleiche und elastische Haut sowie eine schwere neurologische Beeinträchtigung.
62
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Gironi LC...Colombo E
|
29537163 |
2018 |
27 |
A Point to Note in Pili Torti.
62
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Choudhary SV...Singh A
|
29769787 |
2018 |
28 |
A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1.
62
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Florian R...Volc-Platzer B
|
29265343 |
2018 |
29 |
Long-standing pili torti in 2 patients with chronic graft-vs-host disease.
62
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Penzi LR...Senna MM
|
29296651 |
2018 |
30 |
Trichoscopic Features of Linear Morphea on the Scalp.
62
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Saceda-Corralo D...Tosti A
|
29457011 |
2018 |
31 |
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings.
62
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Falco M...Iolascon A
|
28322498 |
2017 |
32 |
Morphological analyses in fragility of pili torti with Björnstad syndrome.
62
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Marubashi Y...Watanabe D
|
27882597 |
2017 |
33 |
Loose Anchoring of Anagen Hairs and Pili Torti due to Erlotinib.
62
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Pirmez R...Miteva M
|
28442878 |
2016 |
34 |
Prognosis and Management of Congenital Hair Shaft Disorders with Fragility-Part I.
62
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Singh G...Miteva M
|
27292719 |
2016 |
35 |
Prognosis and Management of Congenital Hair Shaft Disorders without Fragility-Part II.
62
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Singh G...Miteva M
|
27293153 |
2016 |
36 |
Iliac Artery Aneurysms in Menkes Disease: A Case Report.
62
|
Wichajarn K...Munkong W
|
29906074 |
2016 |
37 |
The Arid Melancholy-Netherton Syndrome With Protein Energy Malnutrition.
62
|
Jain SP...Pandey N
|
27190931 |
2016 |
38 |
Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis.
62
|
Zhong Z...Chen J
|
26269244 |
2016 |
39 |
Dermatologic findings of focal dermal hypoplasia (Goltz syndrome).
62
|
Bree AF...Goltz RW
|
26858134 |
2016 |
40 |
A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION.
62
|
Akduman H...Arsan S
|
30226971 |
2016 |
41 |
Trichoscopic Hair Evaluation in Patients with Ectodermal Dysplasia.
62
|
Rakowska A...Zadurska M
|
25935816 |
2015 |
42 |
Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.
62
|
Zhang J...Tang Z
|
25895478 |
2015 |
43 |
Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.
62
|
Yoshida K...Niizeki H
|
25913853 |
2015 |
44 |
Steatocystoma multiplex with hair shaft abnormalities.
62
|
Pietrzak A...Kanitakis J
|
25808203 |
2015 |
45 |
Clinical presentation of pili torti--Case report.
62
|
Yang JJ...Pegas JR
|
26312667 |
2015 |
46 |
Skin features in myotonic dystrophy type 1: an observational study.
62
|
Campanati A...Offidani A
|
25813338 |
2015 |
47 |
Menkes disease in affected females: the clinical disease spectrum.
62
|
Smpokou P...Lichter-Konecki U
|
25428120 |
2015 |
48 |
Marie-unna hereditary hypotrichosis.
62
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Srinivas SM...Hiremagalore R
|
25368478 |
2014 |
49 |
Hair curvature: a natural dialectic and review.
62
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Nissimov JN...Das Chaudhuri AB
|
24617997 |
2014 |
50 |
Alopecia in genetic diseases.
62
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Calvieri S...Rossi A
|
24566562 |
2014 |