| 1 |
A novel insertion mutation of CDSN responsible for hypotrichosis simplex of scalp in a Chinese family. ( 29797736
)
|
Huang H....Zhang X.
|
2018 |
| 2 |
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. ( 30401459
)
|
Romano MT...Betz RC
|
2018 |
| 3 |
Hereditary hypotrichosis simplex of the scalp. ( 28873114
)
|
Farah R.S....Swick B.L.
|
2017 |
| 4 |
Hereditary hypotrichosis simplex of the scalp. ( 25484430
)
|
Moravvej-Farshi H....Hejazi S.
|
2014 |
| 5 |
A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family. ( 23746069
)
|
Yang S.X....Yang Y.
|
2014 |
| 6 |
Homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient. ( 24354445
)
|
Liu L.H....Zhang X.J.
|
2013 |
| 7 |
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. ( 23246290
)
|
|
2013 |
| 8 |
A recurrent mutation in the APCDD1 gene responsible for hereditary hypotrichosis simplex in a large Chinese family. ( 22512811
)
|
Li M....Yao Z.
|
2012 |
| 9 |
[Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene]. ( 22875505
)
|
|
2012 |
| 10 |
Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family. ( 25386265
)
|
Al Aboud K....Al Aboud D.
|
2011 |
| 11 |
Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. ( 21412954
)
|
Zhou C....Zhang J.
|
2011 |
| 12 |
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. ( 21275938
)
|
Horev L...Zlotogorski A
|
2011 |
| 13 |
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. ( 20393562
)
|
|
2010 |
| 14 |
A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family. ( 19751230
)
|
|
2010 |
| 15 |
In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth. ( 19536142
)
|
Pasternack S.M....Betz R.C.
|
2009 |
| 16 |
Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair. ( 19766349
)
|
|
2009 |
| 17 |
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families. ( 18820939
)
|
|
2009 |
| 18 |
[Involvement of receptor P2Y5 and its ligand LPA in hypotrichosis simplex and autosomal recessive wooly hair syndrome]. ( 19061667
)
|
Dereure O.
|
2008 |
| 19 |
Hypotrichosis simplex of the scalp. ( 17958879
)
|
|
2007 |
| 20 |
A case of hereditary hypotrichosis simplex. ( 16987285
)
|
Koslu A....Cetincelik U.
|
2006 |
| 21 |
Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: association with an 18p11.3 deletion. ( 17001671
)
|
Kantaputra P.N....Praphanphoj V.
|
2006 |
| 22 |
A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp. ( 16307662
)
|
|
2005 |
| 23 |
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. ( 12754508
)
|
Levy-Nissenbaum E....Pras E.
|
2003 |
| 24 |
Hereditary hypotrichosis simplex of the scalp. ( 11994181
)
|
VA!zquez M.R....Diez L.I.
|
2002 |
| 25 |
Hereditary hypotrichosis simplex: report of a family. ( 12472539
)
|
|
2002 |
| 26 |
Guess what! Hypotrichosis simplex. ( 11458928
)
|
Poyanmehr S...Hoffmann R
|
2001 |
| 27 |
A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3. ( 10793007
)
|
Betz R.C....NAPthen M.M.
|
2000 |
| 28 |
An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family. ( 10878665
)
|
|
2000 |
| 29 |
A sporadic case of congenital hypotrichosis simplex of the scalp: difficulties in diagnosis and classification. ( 10469417
)
|
|
1999 |
| 30 |
Hereditary hypotrichosis simplex. ( 9621144
)
|
|
1998 |
| 31 |
Hereditary hypotrichosis simplex of the scalp. ( 8520061
)
|
|
1995 |
| 32 |
Hereditary hypotrichosis simplex of the scalp. ( 3652491
)
|
|
1987 |
| 33 |
Hereditary hypotrichosis simplex of the scalp. Evidence for autosomal dominant inheritance. ( 4141628
)
|
|
1974 |
