1 |
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.
61
6
|
Pasternack SM...Betz RC
|
23246290 |
2013 |
2 |
A recurrent mutation in the APCDD1 gene responsible for hereditary hypotrichosis simplex in a large Chinese family.
61
6
|
Li M...Yao Z
|
22512811 |
2012 |
3 |
Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex.
61
6
|
Zhou C...Zhang J
|
21412954 |
2011 |
4 |
A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp.
61
6
|
Nahum S...Sprecher E
|
21070332 |
2011 |
5 |
A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family.
61
6
|
Xu C...Song HD
|
19751230 |
2010 |
6 |
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex.
61
6
|
Shimomura Y...Christiano AM
|
20393562 |
2010 |
7 |
Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3).
6
61
|
Azeem Z...Ahmad W
|
18461368 |
2008 |
8 |
G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth.
61
6
|
Pasternack SM...Betz RC
|
18297070 |
2008 |
9 |
An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family.
6
61
|
Baumer A...Schinzel A
|
10878665 |
2000 |
10 |
Hereditary hypotrichosis simplex.
61
6
|
Just M...Ferrandiz C
|
9621144 |
1998 |
11 |
Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.
6
|
Khan S...Ahmad W
|
21426374 |
2011 |
12 |
Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.
6
|
Shimomura Y...Christiano AM
|
18830268 |
2009 |
13 |
The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis.
6
|
Petukhova L...Christiano AM
|
19365138 |
2009 |
14 |
A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2).
6
|
Jelani M...Ahmad W
|
18445047 |
2008 |
15 |
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair.
6
|
Shimomura Y...Christiano AM
|
18297072 |
2008 |
16 |
Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family.
6
|
Wajid M...Christiano AM
|
17392831 |
2007 |
17 |
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis.
6
|
Ali G...Ahmad W
|
17333281 |
2007 |
18 |
Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH.
6
|
Kazantseva A...Rogaev EI
|
17095700 |
2006 |
19 |
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions.
6
|
Schaffer JV...Christiano AM
|
16543896 |
2006 |
20 |
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis.
6
|
Zlotogorski A...Pras E
|
16575393 |
2006 |
21 |
Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis.
6
|
Shimomura Y...Ito M
|
16439973 |
2006 |
22 |
Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.
6
|
Kljuic A...Christiano AM
|
12705872 |
2003 |
23 |
Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene.
61
|
Hua S...Li M
|
33222230 |
2020 |
24 |
Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin.
61
|
Peled A...Sprecher E
|
31746457 |
2020 |
25 |
Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp.
61
|
van der Velden JJAJ...Steijlen PM
|
31663161 |
2020 |
26 |
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
61
|
Besnard T...Isidor B
|
30723320 |
2019 |
27 |
[Involvement of cholesterol metabolism in hypotrichosis simplex].
61
|
Dereure O
|
30745120 |
2019 |
28 |
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.
61
|
Schlaweck AE...Betz RC
|
31790498 |
2019 |
29 |
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
61
|
Romano MT...Betz RC
|
30401459 |
2018 |
30 |
A novel insertion mutation of CDSN responsible for hypotrichosis simplex of scalp in a Chinese family.
61
|
Huang H...Zhang X
|
29797736 |
2018 |
31 |
Hereditary hypotrichosis simplex of the scalp.
61
|
Farah RS...Swick BL
|
28873114 |
2017 |
32 |
Hereditary hypotrichosis simplex of the scalp.
61
|
Moravvej-Farshi H...Hejazi S
|
25484430 |
2014 |
33 |
[Alopecia and hypotrichosis in childhood: clinical features and diagnosis].
61
|
Betz RC
|
24898506 |
2014 |
34 |
Homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.
61
|
Liu LH...Zhang XJ
|
24354445 |
2014 |
35 |
A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family.
61
|
Yang SX...Yang Y
|
23746069 |
2014 |
36 |
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.
61
|
Raykova D...Dahl N
|
24714551 |
2014 |
37 |
'Black dots' seen under trichoscopy are not specific for alopecia areata.
61
|
Kowalska-Oledzka E...Rudnicka L
|
22681306 |
2012 |
38 |
[Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene].
61
|
Huang XS...Quan QL
|
22875505 |
2012 |
39 |
Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family.
61
|
Al Aboud K...Al Aboud D
|
25386265 |
2011 |
40 |
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.
61
|
Horev L...Zlotogorski A
|
21275938 |
2011 |
41 |
Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses.
61
|
Jonca N...Serre G
|
21628128 |
2011 |
42 |
A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin.
61
|
Caubet C...Serre G
|
20448140 |
2010 |
43 |
Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript.
61
|
Ramot Y...Zlotogorski A
|
20163456 |
2010 |
44 |
Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease.
61
|
Oji V...Hennies HC
|
20691404 |
2010 |
45 |
In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth.
61
|
Pasternack SM...Betz RC
|
19536142 |
2009 |
46 |
Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair.
61
|
Horev L...Zlotogorski A
|
19766349 |
2009 |
47 |
Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair.
61
|
Pasternack SM...Betz RC
|
19529952 |
2009 |
48 |
Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction.
61
|
Leclerc EA...Guerrin M
|
19596793 |
2009 |
49 |
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families.
61
|
Nahum S...Sprecher E
|
18820939 |
2009 |
50 |
[Involvement of receptor P2Y5 and its ligand LPA in hypotrichosis simplex and autosomal recessive wooly hair syndrome].
61
|
Dereure O
|
19061667 |
2008 |