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A recurrent mutation in the APCDD1 gene responsible for hereditary hypotrichosis simplex in a large Chinese family.
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Li M...Yao Z
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2012 |
2 |
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex.
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5
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Shimomura Y...Christiano AM
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20393562 |
2010 |
3 |
An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family.
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5
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Baumer A...Schinzel A
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10878665 |
2000 |
4 |
Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis.
5
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Ito T...Tokura Y
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25899282 |
2015 |
5 |
TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.
5
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Singh A...Egly JM
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25620205 |
2015 |
6 |
Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair.
5
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Hayashi R...Shimomura Y
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25271093 |
2014 |
7 |
Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family.
5
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Hayashi R...Shimomura Y
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25201209 |
2014 |
8 |
Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood.
5
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Tanahashi K...Akiyama M
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22449147 |
2013 |
9 |
A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship.
5
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Pehlivan D...Jaspers NG
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23039039 |
2012 |
10 |
Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair.
5
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Yoshimasu T...Furukawa F
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21352330 |
2011 |
11 |
Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis.
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Shinkuma S...Shimizu H
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20213768 |
2010 |
12 |
Trichothiodystrophy: from basic mechanisms to clinical implications.
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Stefanini M...Orioli D
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19931493 |
2010 |
13 |
Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis.
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Shimomura Y...Christiano AM
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2009 |
14 |
A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy.
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de Boer J...Weeda G
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1998 |
15 |
Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.
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Takayama K...Weber CA
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8571952 |
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16 |
Hypotrichosis simplex of the scalp and peeling skin disease, two sides of the same coin.
62
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Lopez-Balboa P...Hernandez-Martin A
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35633076 |
2022 |
17 |
Treatment of hereditary hypotrichosis simplex of the scalp with oral minoxidil and growth factors.
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Vastarella M...Cantelli M
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2022 |
18 |
A Novel Pathogenic CDH3 Variant underlying Heredity Hypotrichosis Simplex detected by Whole-Exome Sequencing (WES)-A Case Report.
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Kadhi A...Kurban M
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35962736 |
2022 |
19 |
Diffuse congenital hypotrichosis simplex with associated hair shaft fragility.
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Willems A...Sinclair R
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34657286 |
2022 |
20 |
Application of topical gentamicin-a new era in the treatment of genodermatosis.
62
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Wang S...Yang YH
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34787828 |
2021 |
21 |
Additional causal SNRPE mutations in hereditary hypotrichosis simplex.
62
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Pan C...Betz RC
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33792916 |
2021 |
22 |
Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene.
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Hua S...Li M
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33222230 |
2021 |
23 |
Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin.
62
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Peled A...Sprecher E
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31746457 |
2020 |
24 |
Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp.
62
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van der Velden JJAJ...Steijlen PM
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31663161 |
2020 |
25 |
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
62
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Besnard T...Isidor B
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26 |
[Involvement of cholesterol metabolism in hypotrichosis simplex].
62
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Dereure O
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2019 |
27 |
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.
62
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Schlaweck AE...Betz RC
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2019 |
28 |
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
62
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Romano MT...Betz RC
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2018 |
29 |
A novel insertion mutation of CDSN responsible for hypotrichosis simplex of scalp in a Chinese family.
62
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Huang H...Zhang X
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2018 |
30 |
Hereditary hypotrichosis simplex of the scalp.
62
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Farah RS...Swick BL
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2017 |
31 |
Hereditary hypotrichosis simplex of the scalp.
62
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32 |
[Alopecia and hypotrichosis in childhood: clinical features and diagnosis].
62
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Betz RC
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24898506 |
2014 |
33 |
A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family.
62
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Yang SX...Yang Y
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23746069 |
2014 |
34 |
Homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.
62
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Liu LH...Zhang XJ
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24354445 |
2014 |
35 |
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.
62
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Raykova D...Dahl N
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24714551 |
2014 |
36 |
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.
62
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Pasternack SM...Betz RC
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23246290 |
2013 |
37 |
[Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene].
62
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Huang XS...Quan QL
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22875505 |
2012 |
38 |
'Black dots' seen under trichoscopy are not specific for alopecia areata.
62
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Kowalska-Oledzka E...Rudnicka L
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22681306 |
2012 |
39 |
Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family.
62
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Al Aboud K...Al Aboud D
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25386265 |
2011 |
40 |
Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex.
62
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Zhou C...Zhang J
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21412954 |
2011 |
41 |
Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses.
62
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Jonca N...Serre G
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21628128 |
2011 |
42 |
Mutations in two genes on chromosome 13 resulting in a complex hair and skin phenotype due to two rare genodermatoses: KLICK and autosomal recessive woolly hair/hypotrichosis simplex.
62
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Horev L...Zlotogorski A
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21275938 |
2011 |
43 |
A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp.
62
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Nahum S...Sprecher E
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21070332 |
2011 |
44 |
A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin.
62
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Caubet C...Serre G
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20448140 |
2010 |
45 |
Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript.
62
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Ramot Y...Zlotogorski A
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20163456 |
2010 |
46 |
Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease.
62
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Oji V...Hennies HC
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20691404 |
2010 |
47 |
A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family.
62
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Xu C...Song HD
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19751230 |
2010 |
48 |
In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth.
62
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Pasternack SM...Betz RC
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19536142 |
2009 |
49 |
Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair.
62
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Horev L...Zlotogorski A
|
19766349 |
2009 |
50 |
Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair.
62
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Pasternack SM...Betz RC
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19529952 |
2009 |