1 |
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex.
62
57
5
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Shimomura Y...Christiano AM
|
20393562 |
2010 |
2 |
An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family.
62
57
5
|
Baumer A...Schinzel A
|
10878665 |
2000 |
3 |
A recurrent mutation in the APCDD1 gene responsible for hereditary hypotrichosis simplex in a large Chinese family.
62
5
|
Li M...Yao Z
|
22512811 |
2012 |
4 |
Hypotrichosis simplex of the scalp and peeling skin disease, two sides of the same coin.
62
|
Lopez-Balboa P...Hernandez-Martin A
|
35633076 |
2022 |
5 |
Treatment of hereditary hypotrichosis simplex of the scalp with oral minoxidil and growth factors.
62
|
Vastarella M...Cantelli M
|
35761391 |
2022 |
6 |
A Novel Pathogenic CDH3 Variant underlying Heredity Hypotrichosis Simplex detected by Whole-Exome Sequencing (WES)-A Case Report.
62
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Kadhi A...Kurban M
|
35962736 |
2022 |
7 |
Diffuse congenital hypotrichosis simplex with associated hair shaft fragility.
62
|
Willems A...Sinclair R
|
34657286 |
2022 |
8 |
Application of topical gentamicin-a new era in the treatment of genodermatosis.
62
|
Wang S...Yang YH
|
34787828 |
2021 |
9 |
Additional causal SNRPE mutations in hereditary hypotrichosis simplex.
62
|
Pan C...Betz RC
|
33792916 |
2021 |
10 |
Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene.
62
|
Hua S...Li M
|
33222230 |
2021 |
11 |
Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin.
62
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Peled A...Sprecher E
|
31746457 |
2020 |
12 |
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
|
31663161 |
2020 |
13 |
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
|
30723320 |
2019 |
14 |
[Involvement of cholesterol metabolism in hypotrichosis simplex].
62
|
Dereure O
|
30745120 |
2019 |
15 |
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.
62
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Schlaweck AE...Betz RC
|
31790498 |
2019 |
16 |
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
62
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Romano MT...Betz RC
|
30401459 |
2018 |
17 |
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
|
29797736 |
2018 |
18 |
Hereditary hypotrichosis simplex of the scalp.
62
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Farah RS...Swick BL
|
28873114 |
2017 |
19 |
Hereditary hypotrichosis simplex of the scalp.
62
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Moravvej-Farshi H...Hejazi S
|
25484430 |
2014 |
20 |
[Alopecia and hypotrichosis in childhood: clinical features and diagnosis].
62
|
Betz RC
|
24898506 |
2014 |
21 |
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
|
24714551 |
2014 |
22 |
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
|
24354445 |
2014 |
23 |
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
|
23746069 |
2014 |
24 |
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
|
23246290 |
2013 |
25 |
A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities.
62
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Farkas K...Szell M
|
22584530 |
2012 |
26 |
'Black dots' seen under trichoscopy are not specific for alopecia areata.
62
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Kowalska-Oledzka E...Rudnicka L
|
22681306 |
2012 |
27 |
[Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene].
62
|
Huang XS...Quan QL
|
22875505 |
2012 |
28 |
Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family.
62
|
Al Aboud K...Al Aboud D
|
25386265 |
2011 |
29 |
Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex.
62
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Zhou C...Zhang J
|
21412954 |
2011 |
30 |
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
|
Horev L...Zlotogorski A
|
21275938 |
2011 |
31 |
Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses.
62
|
Jonca N...Serre G
|
21628128 |
2011 |
32 |
A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp.
62
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Nahum S...Sprecher E
|
21070332 |
2011 |
33 |
A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin.
62
|
Caubet C...Serre G
|
20448140 |
2010 |
34 |
Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript.
62
|
Ramot Y...Zlotogorski A
|
20163456 |
2010 |
35 |
Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease.
62
|
Oji V...Hennies HC
|
20691404 |
2010 |
36 |
A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family.
62
|
Xu C...Song HD
|
19751230 |
2010 |
37 |
In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth.
62
|
Pasternack SM...Betz RC
|
19536142 |
2009 |
38 |
Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair.
62
|
Horev L...Zlotogorski A
|
19766349 |
2009 |
39 |
Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair.
62
|
Pasternack SM...Betz RC
|
19529952 |
2009 |
40 |
Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction.
62
|
Leclerc EA...Guerrin M
|
19596793 |
2009 |
41 |
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families.
62
|
Nahum S...Sprecher E
|
18820939 |
2009 |
42 |
[Involvement of receptor P2Y5 and its ligand LPA in hypotrichosis simplex and autosomal recessive wooly hair syndrome].
62
|
Dereure O
|
19061667 |
2008 |
43 |
Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3).
62
|
Azeem Z...Ahmad W
|
18461368 |
2008 |
44 |
G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth.
62
|
Pasternack SM...Betz RC
|
18297070 |
2008 |
45 |
Hypotrichosis simplex of the scalp.
62
|
Kanitakis J
|
17958879 |
2007 |
46 |
Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: association with an 18p11.3 deletion.
62
|
Kantaputra PN...Praphanphoj V
|
17001671 |
2006 |
47 |
A case of hereditary hypotrichosis simplex.
62
|
Koslu A...Cetincelik U
|
16987285 |
2006 |
48 |
A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp.
62
|
Davalos NO...Betz RC
|
16307662 |
2005 |
49 |
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.
62
|
Levy-Nissenbaum E...Pras E
|
12754508 |
2003 |
50 |
Hereditary hypotrichosis simplex: report of a family.
62
|
Al Aboud K...Al Githami A
|
12472539 |
2002 |