|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.
|
28403434 |
2017 |
|
Ichthyosis Congenita I
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Activation of Molecular Signatures for Antimicrobial and Innate Defense Responses in Skin with Transglutaminase 1 Deficiency.
|
27442430 |
2016 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis.
|
26220141 |
2016 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy.
|
26620441 |
2016 |
|
Ichthyosis Congenita I
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis.
|
26220141 |
2016 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Autosomal recessive congenital ichthyoses in the Czech Republic.
|
25998749 |
2016 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.
|
27025581 |
2016 |
|
Ichthyosis Congenita I
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.
|
27025581 |
2016 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.
|
26762237 |
2016 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis.
|
26594337 |
2015 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Prenatal Screening for Bathing-suit Ichthyosis After Diagnosis in an Older Sibling.
|
26076875 |
2015 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature.
|
25154629 |
2015 |
|
Ichthyosis Congenita I
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Ichthyosis Congenita I
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia.
|
25766764 |
2015 |
|
Ichthyosis Congenita I
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature.
|
25154629 |
2015 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia.
|
25766764 |
2015 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Novel TGM1 missense mutation p.Arg727Gln in a case of self-healing collodion baby.
|
24419105 |
2014 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Transglutaminase-1 mutations in Omani families with lamellar ichthyosis.
|
23689228 |
2013 |
|
Ichthyosis Congenita I
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population.
|
23621129 |
2013 |
|
Ichthyosis Congenita I
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal.
|
23278109 |
2013 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases.
|
22992804 |
2013 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal.
|
23278109 |
2013 |
|
Ichthyosis Congenita I
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Very mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe.
|
23895935 |
2013 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population.
|
23621129 |
2013 |