| 1 | Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. (21412954) | Zhou C.... Zhang J. | 2011 | RPL21 |
| 2 | Marie Unna hereditary hypotrichosis: identification o f a U2HR mutation in the family from the original 1925 report. (20659777) | Redler S.... NAPthen M.M. | 2011 | HR |
| 3 | Novel mutations in the keratin-74 (KRT74) gene underl ie autosomal dominant woolly hair/hypotrichosis in Pakistani families. (21188418) | Wasif N.... Ahmad W. | 2011 | KRT74 |
| 4 | Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation. (20814945) | Mansur A.T.... Akarsu N.A. | 2010 | HR |
| 5 | A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrop hy. (20140736) | Kamran-ul-Hassan Naqvi S.... Ahmad W. | 2010 | CDH3 |
| 6 | Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy. (20203473) | Shimomura Y.... Christiano A.M. | 2010 | CDH3 |
| 7 | Overexpression of Hr links excessive induction of Wnt signaling to Marie Unna hereditary hypotrichosis. (19897589) | Kim J.K.... Yoon S.K. | 2010 | HR |
| 8 | Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis. (20213768) | Shinkuma S.... Shimizu H. | 2010 | LPAR6, LIPH |
| 9 | Mutations in lipase H gene underlie autosomal recessi ve hypotrichosis in five Pakistani families. (20107739) | Kalsoom U.E.... Ahmad W. | 2010 | LIPH |
| 10 | Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis. (19892526) | Shimomura Y.... Christiano A.M. | 2009 | LIPH |
| 11 | Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. (19122663) | Wen Y.... Zhang X. | 2009 | HR, FGF17, FAM160B2 |
| 12 | A novel deletion mutation in the phospholipase H (LIPH) gene in a consanguineous Pakistani family with autosomal recessive hypotrichosis (LAH2). (18795930) | Kamran-ul-Hassan Naqvi S.... Ahmad W. | 2009 | LIPH |
| 13 | The effect of inbreeding on the distribution of compo und heterozygotes: a lesson from Lipase H mutations in autosomal recessive wool ly hair/hypotrichosis. (19365138) | Petukhova L.... Christiano A.M. | 2009 | LIPH |
| 14 | A novel splice-site mutation in the CDH3 gene in hypotrichosis with juvenile macular dystrophy. (19076794) | Jelani M.... Ahmad W. | 2009 | CDH3 |
| 15 | A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. (19765682) | Ayub M.... Ahmad W. | 2009 | DSC3 |
| 16 | Mutations in the P2RY5 gene underlie autosomal recess ive hypotrichosis in 13 Pakistani families. (19292720) | Tariq M.... Ahmad W. | 2009 | LPAR6 |
| 17 | Founder mutations in the lipase h gene in families wi th autosomal recessive woolly hair/hypotrichosis. (19262606) | Shimomura Y.... Christiano A.M. | 2009 | LIPH |
| 18 | Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. (18830268) | Shimomura Y.... Christiano A.M. | 2009 | LPAR6, LIPH |
| 19 | Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing. (18843291) | Alef T.... Hennies H.C. | 2009 | ST14, PRSS8, FLG |
| 20 | Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2). (19167195) | Naz G.... Ahmad W. | 2009 | LIPH |
| 21 | Autosomal recessive ichthyosis with hypotrichosis syn drome: further delineation of the phenotype. (18445049) | Avrahami L.... Basel-Vanagaite L. | 2008 | ST14 |
| 22 | Mutation G827R in matriptase causing autosomal recessive ichthyosis with hypotrichosis yields an inactive protease. (18263585) | Desilets A.... Leduc R. | 2008 | ST14, TMPRSS11A |
| 23 | A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2). (18445047) | Jelani M.... Ahmad W. | 2008 | LIPH |
| 24 | Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation. (18692127) | Petukhova L.... Christiano A.M. | 2008 | LPAR6 |
| 25 | Involvement of receptor P2Y5 and its ligand LPA in hypotrichosis simplex and autosomal recessive wooly hair syndrome (19061667) | Dereure O. | 2008 | LPAR6 |
| 26 | Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). (18461368) | Azeem Z.... Ahmad W. | 2008 | LPAR6 |
| 27 | 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. | 2007 | DSG4 |
| 28 | Autosomal ichthyosis with hypotrichosis syndrome displays low matriptase proteolytic activity and is phenocopied in ST14 hypomorphic mice. (17940283) | List K.... Bugge T.H. | 2007 | ST14, PRSS8 |
| 29 | A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. (17333281) | Ali G.... Ahmad W. | 2007 | DSG4, LIPH |
| 30 | Recessive autosomal ichthyosis with hypotrichosis with mutation in the ST14 gene (17978729) | Dereure O. | 2007 | ST14 |
| 31 | Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. (17273967) | Basel-Vanagaite L.... Shohat M. | 2007 | ST14 |
| 32 | Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy. (17342797) | Indelman M.... Sprecher E. | 2007 | CDH3 |
| 33 | Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. (16439973) | Shimomura Y.... Ito M. | 2006 | DSG4, KRT83, KRT86 |
| 34 | Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. (16543896) | Schaffer J.V.... Christiano A.M. | 2006 | DSG4 |
| 35 | Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins. (16770573) | John P.... Ahmad W. | 2006 | DSG4 |
| 36 | Further delineation of the hypotrichosis-deafness syndrome. (16280295) | van Steensel M.A.... Steijlen P.M. | 2005 | GJB2, GJB3, GJB4 |
| 37 | Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings. (16120155) | Indelman M.... Sprecher E. | 2005 | CDH3 |
| 38 | A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. (16297213) | Messenger A.G.... Christiano A.M. | 2005 | DSG4 |
| 39 | Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats. (16382669) | Bazzi H.... Christiano A.M. | 2005 | DSG4 |
| 40 | A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis. (15191570) | Rafiq M.A.... Ahmad W. | 2004 | DSG4 |
| 41 | A recurrent intragenic deletion in the desmoglein 4 g ene underlies localized autosomal recessive hypotrichosis. (15304105) | Moss C.... Christiano A.M. | 2004 | DSG4 |
| 42 | A spontaneous mutation in the desmoglein 4 gene underlies hypotrichosis in a new lanceolate hair rat model. (15617564) | Meyer B.... Christiano A.M. | 2004 | DSG4 |
| 43 | Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy. (14708629) | Indelman M.... Sprecher E. | 2003 | CDH3 |
| 44 | Desmoglein 4 in hair follicle differentiation and epidermal adhesion. Evidence from inherited hypotrichosis and acquired pemphigus vulgaris. (12705872) | Kljuic A.... Christiano A.M. | 2003 | DSG4 |
| 45 | New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C. (12207605) | van Steensel M.A.... Steijlen P.M. | 2002 | CTSC |
| 46 | An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family. (10878665) | Baumer A.... Schinzel A. | 2000 | APCDD1 |
| 47 | Marie Unna hereditary hypotrichosis gene maps to human chromosome 8p21 near hairless. (10777357) | Sreekumar G.P.... Parimoo S. | 2000 | HMU |
| 48 | The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing. (10417283) | van Steensel M.... McLean W.H. | 1999 | HMU |
| 49 | Palmoplantar epidermal atrophy with hypokeratosis, d ys- and hypotrichosis, hypodontia, enamel and dentin hypoplasia, isolated cleft palate with cleft uvula, strabismus cryptorchism and other anomalies--an undes cribed ecto-mesodermal dysplasia? (1677642) | Salamon T.... Dojcinov D. | 1991 | DSPP |
| 50 | Hereditary hypotrichosis simplex of the scalp. Evidence for autosomal dominant inheritance. (4141628) | Toribio J.... Quinones P.A. | 1974 | CDSN |
