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Title : Mutational analysis of 29 patients with autosomal-recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal-recessive woolly hair and hypotrichosis in Japan - |
Author(s) : Takeichi T , Tanahashi K , Taki T , Kono M , Sugiura K , Akiyama M |
Ref : Br J Dermatol , 177 :290 , 2017 |
PubMedID: 27641630 |
Gene_locus related to this paper: human-LIPH |
Title : Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome - |
Author(s) : Takeichi T , Sugiura K , Tso S , Simpson MA , McGrath JA , Akiyama M |
Ref : J Dermatol Sci , 81 :134 , 2016 |
PubMedID: 26547112 |
Gene_locus related to this paper: human-ABHD5 |
Title : Topical minoxidil improves congenital hypotrichosis caused by LIPH mutations - |
Author(s) : Tanahashi K , Sugiura K , Akiyama M |
Ref : Br J Dermatol , 173 :865 , 2015 |
PubMedID: 25819726 |
Gene_locus related to this paper: human-LIPH |
Title : Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis - Sugiura_2015_J.Dermatol.Sci_79_4 |
Author(s) : Sugiura K , Akiyama M |
Ref : J Dermatol Sci , 79 :4 , 2015 |
Abstract : Sugiura_2015_J.Dermatol.Sci_79_4 |
ESTHER : Sugiura_2015_J.Dermatol.Sci_79_4 |
PubMedSearch : Sugiura_2015_J.Dermatol.Sci_79_4 |
PubMedID: 25982146 |
Title : Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6 - |
Author(s) : Sugiura K , Suga Y , Akiyama M |
Ref : J Dermatol Sci , 75 :199 , 2014 |
PubMedID: 24996587 |
Gene_locus related to this paper: human-ABHD5 |
Title : Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair\/hypotrichosis in Japan and the genotype\/phenotype correlations - Tanahashi_2014_PLoS.One_9_e89261 |
Author(s) : Tanahashi K , Sugiura K , Kono M , Takama H , Hamajima N , Akiyama M |
Ref : PLoS ONE , 9 :e89261 , 2014 |
Abstract : Tanahashi_2014_PLoS.One_9_e89261 |
ESTHER : Tanahashi_2014_PLoS.One_9_e89261 |
PubMedSearch : Tanahashi_2014_PLoS.One_9_e89261 |
PubMedID: 24586639 |
Gene_locus related to this paper: human-LIPH |
Title : Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood - Tanahashi_2013_J.Eur.Acad.Dermatol.Venereol_27_1182 |
Author(s) : Tanahashi K , Sugiura K , Takeichi T , Takama H , Shinkuma S , Shimizu H , Akiyama M |
Ref : J Eur Acad Dermatol Venereol , 27 :1182 , 2013 |
Abstract : Tanahashi_2013_J.Eur.Acad.Dermatol.Venereol_27_1182 |
ESTHER : Tanahashi_2013_J.Eur.Acad.Dermatol.Venereol_27_1182 |
PubMedSearch : Tanahashi_2013_J.Eur.Acad.Dermatol.Venereol_27_1182 |
PubMedID: 22449147 |
Gene_locus related to this paper: human-LIPH |