Literature DB >> 25998749

Autosomal recessive congenital ichthyoses in the Czech Republic.

H Bučková1, H Nosková2,3, R Borská2, K Réblová3, B Pinková1, E Zapletalová2, L Kopečková2, O Horký2, J Němečková4, R Gaillyová4, Z Nagy1, K Veselý5, M Hermanová5, K Stehlíková2, L Fajkusová2,3.   

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Year:  2015        PMID： 25998749     DOI： 10.1111/bjd.13918

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  10 in total

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Review 2.  Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.

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3.  A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.

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Journal:  Mol Genet Genomic Med       Date:  2019-03-27       Impact factor: 2.183

4.  Inherited ichthyoses: molecular causes of the disease in Czech patients.

Authors:  Romana Borská; Blanka Pinková; Kamila Réblová; Hana Bučková; Lenka Kopečková; Jitka Němečková; Alena Puchmajerová; Marcela Malíková; Markéta Hermanová; Lenka Fajkusová
Journal:  Orphanet J Rare Dis       Date:  2019-05-02       Impact factor: 4.123

5.  Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation.

Authors:  Mariem Ennouri; Andreas D Zimmer; Emna Bahloul; Rim Chaabouni; Slaheddine Marrakchi; Hamida Turki; Faiza Fakhfakh; Noura Bougacha-Elleuch; Judith Fischer
Journal:  BMC Med Genomics       Date:  2022-01-05       Impact factor: 3.063

6.  Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis.

Authors:  Haiyan Tang; Xiaoliu Shi; Guiying Zhang
Journal:  Clin Case Rep       Date:  2021-12-05

7.  Two Novel Mutations in the JAG1 Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic.

Authors:  Dagmar Prochazková; Romana Borská; Lenka Fajkusová; Petra Konečná; Eliška Hloušková; Zdeněk Pavlovský; Ondřej Slabý; Šárka Pospíšilová
Journal:  Diagnostics (Basel)       Date:  2021-05-28

8.  DNA mutation motifs in the genes associated with inherited diseases.

Authors:  Michal Růžička; Petr Kulhánek; Lenka Radová; Andrea Čechová; Naďa Špačková; Lenka Fajkusová; Kamila Réblová
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9.  Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.

Authors:  Uxia Esperón-Moldes; Manuel Ginarte-Val; Laura Rodríguez-Pazos; Laura Fachal; Ana Martín-Santiago; Asunción Vicente; David Jiménez-Gallo; Encarna Guillén-Navarro; Loreto Martorell Sampol; María Antonia González-Enseñat; Ana Vega
Journal:  PLoS One       Date:  2020-02-18       Impact factor: 3.240

10.  Genomic basis for skin phenotype and cold adaptation in the extinct Steller's sea cow.

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  10 in total

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