| 1 |
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. ( 30401459
)
|
Romano MT...Betz RC
|
2018 |
| 2 |
Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles. ( 26902920
)
|
Zernov NV...Zinchenko RA
|
2016 |
| 3 |
Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair. ( 24628704
)
|
Mehmood S...Ahmad W
|
2015 |
| 4 |
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
|
2015 |
| 5 |
Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix. ( 26173648
)
|
Wang JM...Liang YH
|
2015 |
| 6 |
Homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient. ( 24354445
)
|
Liu LH...Zhang XJ
|
2014 |
| 7 |
Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH). ( 25429336
)
|
Abbas S...Qaiser F
|
2014 |
| 8 |
A novel mutation in lysophosphatidic acid receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect. ( 22531990
)
|
Azhar A...Klar J
|
2012 |
| 9 |
A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair. ( 23066499
)
|
Tariq M...Klar J
|
2012 |
| 10 |
Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees. ( 20528890
)
|
Basit S...Ahmad W
|
2011 |
| 11 |
A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp. ( 21070332
)
|
Nahum S...Sprecher E
|
2011 |
| 12 |
Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. ( 21426374
)
|
Khan S...Ahmad W
|
2011 |
| 13 |
Hair shaft abnormalities in localized autosomal recessive hypotrichosis 2 and a review of other non-syndromic human alopecias. ( 21537821
)
|
Suga H...Sato S
|
2011 |
| 14 |
Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family. ( 25386265
)
|
Al Aboud K...Al Aboud D
|
2011 |
| 15 |
Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23–22.3. ( 20054564
)
|
Naz G...Ahmad W
|
2010 |
| 16 |
Mutations in lipase H gene underlie autosomal recessive hypotrichosis in five Pakistani families. ( 20107739
)
|
Kalsoom UE...Ahmad W
|
2010 |
| 17 |
Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis. ( 20213768
)
|
Shinkuma S...Shimizu H
|
2010 |
| 18 |
Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2). ( 19167195
)
|
Naz G...Ahmad W
|
2009 |
| 19 |
Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families. ( 19292720
)
|
Tariq M...Ahmad W
|
2009 |
| 20 |
The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis. ( 19365138
)
|
Petukhova L...Christiano AM
|
2009 |
| 21 |
Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair. ( 19766349
)
|
Horev L...Zlotogorski A
|
2009 |
| 22 |
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 |
| 23 |
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families. ( 18820939
)
|
Nahum S...Sprecher E
|
2009 |
| 24 |
Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. ( 18830268
)
|
Shimomura Y...Christiano AM
|
2009 |
| 25 |
A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2). ( 18445047
)
|
Jelani M...Ahmad W
|
2008 |
| 26 |
Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). ( 18461368
)
|
Azeem Z...Ahmad W
|
2008 |
| 27 |
Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation. ( 18692127
)
|
Petukhova L...Christiano AM
|
2008 |
| 28 |
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. ( 17333281
)
|
Ali G...Ahmad W
|
2007 |
| 29 |
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 AM
|
2007 |
| 30 |
Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32. ( 17594396
)
|
Wali A...Ahmad W
|
2007 |
| 31 |
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. ( 16543896
)
|
Schaffer JV...Christiano AM
|
2006 |
| 32 |
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. ( 16575393
)
|
Zlotogorski A...Pras E
|
2006 |
| 33 |
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 |
| 34 |
Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. ( 17095700
)
|
Kazantseva A...Rogaev EI
|
2006 |
| 35 |
A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. ( 16297213
)
|
Messenger AG...Christiano AM
|
2005 |
| 36 |
Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats. ( 16382669
)
|
Bazzi H...Christiano AM
|
2005 |
| 37 |
A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis. ( 15191570
)
|
Rafiq MA...Ahmad W
|
2004 |
| 38 |
A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. ( 15304105
)
|
Moss C...Christiano AM
|
2004 |
