|1|Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy. (27157923)
Singh M.S.... MacLaren R.E.
|2|Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>A LIPH mutation. (27375176)
Kinoshita-Ise M.... Ohyama M.
|3|Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles. (26902920)
Zernov N.V.... Zinchenko R.A.
|4|Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations. (24586639)
Tanahashi K.... Akiyama M.
|5|Hereditary hypotrichosis simplex of the scalp. (25484430)
Moravvej-Farshi H.... Hejazi S.
|6|A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families. (25251037)
Ullah A.... Ahmad W.
|7|Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. (25168385)
Wang H.... Yang Y.
|8|A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family. (23746069)
Yang S.X.... Yang Y.
|9|Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis. (22385360)
Kurban M.... Christiano A.M.
|10|Two cases of Marie Unna hereditary hypotrichosis: clinical features and mutation analysis of the U2HR and EPS8L3 genes. (24236410)
Li Q.... Zhang X.J.
|11|Homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient. (24354445)
Liu L.H.... Zhang X.J.
|12|Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood. (22449147)
Tanahashi K.... Akiyama M.
|13|Alopecia and Hypotrichosis as Characteristic Findings in Woodhouse-Sakati Syndrome: Report of a Family with Mutation in the C2orf37 Gene. (24015686)
Nanda A.... Betz R.C.
|14|Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy. (23143461)
Halford S.... Downes S.M.
|15|The I^9 loop domain of PA-PLA1I+ has a crucial role in autosomal recessive woolly hair/hypotrichosis. (22475755)
Shinkuma S.... Shimizu H.
|16|Identification of an Alu-mediated 12.2-kb deletion of the complete LPAR6 (P2RY5) gene in a Turkish family with hypotrichosis and woolly hair. (22621192)
Mahmoudi H.... Betz R.C.
|17|Marie-Unna hereditary hypotrichosis: case report and review of the literature. (21504454)
Podjasek J.O.... Hand J.L.
|18|Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family. (25386265)
Al Aboud K.... Al Aboud D.
|19|Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair/hypotrichosis phenotype. (22125978)
Shah S.H.... Khaliq S.
|20|Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation. (20814945)
Mansur A.T.... Akarsu N.A.
|21|A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy. (20140736)
Kamran-ul-Hassan Naqvi S.... Ahmad W.
|22|Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis. (19892526)
Shimomura Y.... Christiano A.M.
|23|A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome. (19119135)
Castori M.... Paradisi M.
|24|Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype. (18445049)
Avrahami L.... Basel-Vanagaite L.
|25|Hypotrichosis, bulbous nose, and cone-shaped epiphyses in an 8-year-old girl. Trichorhinophalangeal syndrome type I. (18950401)
Sayed C.J.... Morrell D.S.
|26|Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family. (17392831)
Wajid M.... Christiano A.M.
|27|Autosomal ichthyosis with hypotrichosis syndrome displays low matriptase proteolytic activity and is phenocopied in ST14 hypomorphic mice. (17940283)
List K.... Bugge T.H.
|28|Hair restoration surgery in patients with pubic atrichosis or hypotrichosis: review of technique and clinical consideration of 507 cases. (17083584)
Lee Y.R.... Ogawa H.
|29|Progressive patterned scalp hypotrichosis, with wiry hair, onycholysis, and intermittently associated cleft lip and palate: clinical and genetic distinction from Marie Unna. (12895008)
Green J.... Sinclair R.D.
|30|Genetic syndrome with ichthyosis: congenital ichthyosis, follicular atrophoderma, hypotrichosis, and woolly hair; second report. (12207612)
Tursen U.... Aras N.
|31|Hereditary hypotrichosis simplex of the scalp. (11994181)
VA!zquez M.R.... Diez L.I.
|32|Guess what! Hypotrichosis simplex. (11458928)
Poyanmehr S.... Hoffmann R.
|33|Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin. (11544476)
Sprecher E.... Szargel R.
|34|The hypotrichosis-generating shorn (shn) mutation maps to distal chromosome 7 in the Norway rat. (10912685)
Hall E.H.... King T.R.
|35|Marie Unna hereditary hypotrichosis. (10356404)
Argenziano G.... Calvieri S.
|36|Marie Unna congenital hypotrichosis: clinical description, histopathology, scanning electron microscopy of a previously unreported large pedigree. (10674378)
Roberts J.L.... Woolf L.
|37|Hair restoration surgery in patients with hypotrichosis of the pubis: the reason and ideas for design. (10469095)
Hong C.K.... Choi H.G.
|38|Olmsted syndrome with hypotrichosis. (20944293)
Dogra D.... Pandhi R.K.
|39|Congenital hypotrichosis and milia: report of a large family suggesting X-linked dominant inheritance. (7747764)
Rapelanoro R.... Lacombe D.
|40|Fever and hypotrichosis in a newborn. Anhidrotic ectodermal dysplasia (AED). (3777980)
Wasserteil V.... Bruce S.
|41|Eyelid cysts, hypodontia, and hypotrichosis. (6725680)
Burket J.M.... Burket D.A.
|42|Further studies of congenital hypotrichosis in Hereford cattle. (6426206)
Bracho G.A.... Leipold H.W.
|43|The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. (6177160)
MichaAlsson G.... Westermark P.
|44|A family with hypotrichosis associated with congenital hypoplasia of the thumb. (529548)
Chiba A.... Miura T.
|45|Hereditary hypotrichosis. A previously undescribed syndrome. (508598)
Bentley-Phillips B.... Grace H.J.
|46|Syndrome of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait. (4281327)
SchAPpf E.... Passarge E.
|47|Inherited Congenital Hypotrichosis. (17421588)
|48|Hereditary ciliary and superciliary hypotrichosis of a dominant character. (13596561)
URRETS-ZAVALIA A.... JIMENEZ E.S.
|49|A form of ectodermal dysplasia; hypotrichosis with anhidrosis and anodontia]. (13023176)
Verger P.... PAILLOU L.
|50|Genetical studies on skin diseases. III. Hypotrichosis congenita. (14828626)