Condition: Herlitz Disease


rs1057516476 in LAMA3 gene and Herlitz Disease PMID 12943669 2003 A missense mutation (G1506E) in the adhesion G domain of laminin-5 causes mild junctional epidermolysis bullosa.

PMID 11810295 2002 Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.

PMID 16971478 2007 Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.

PMID 17362460 2007 Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome.

PMID 27827380 2016 Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency.

PMID 7633458 1995 A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.

PMID 8530087 1995 A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk.

PMID 9160387 1997 Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa.

PMID 8983017 1996 Molecular complexity of the cutaneous basement membrane zone.

PMID 8618022 1996 A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect.

PMID 12813757 2003 Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.

PMID 15373767 2004 Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa.

PMID 27375110 2016 Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 16473856 2006 Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.

PMID 22434185 2012 Enamel defects in carriers of a novel LAMA3 mutation underlying epidermolysis bullosa.

rs1057516539 in LAMB3 gene and Herlitz Disease PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 7550237 1995 Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3).

PMID 9242513 1997 Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy.

PMID 25950805 2015 Dermal eosinophilic infiltrate in junctional epidermolysis bullosa.

PMID 15538630 2005 Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease.

PMID 22931927 2013 Keratinocytes from induced pluripotent stem cells in junctional epidermolysis bullosa.

PMID 25708563 2015 Junctional epidermolysis bullosa with LAMB3 splice-site mutations.

PMID 9856852 1998 Combination of a novel frameshift mutation (1929delCA) and a recurrent nonsense mutation (W610X) of the LAMB3 gene in a Japanese patient with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.

PMID 9457915 1998 Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.

PMID 28392661 2017 Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing.

PMID 27480391 2017 Molecular epidemiology of junctional epidermolysis bullosa: discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance.

PMID 15725250 2005 Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins.

PMID 12813757 2003 Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.

PMID 11023379 2000 Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency.

PMID 8824879 1996 Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa.

PMID 16473856 2006 Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.

PMID 16971478 2007 Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.

PMID 21801158 2011 Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands.

PMID 11298117 2001 DNA based molecular analysis in the rapid diagnosis of Herlitz junctional epidermolysis bullosa.

PMID 24947307 2015 Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.

PMID 11689492 2001 Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging.

PMID 9690563 1998 LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: consequences at the mRNA and protein levels.

PMID 11810295 2002 Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.

PMID 28561256 2018 Lack of K140 immunoreactivity in junctional epidermolysis bullosa skin and keratinocytes associates with misfolded laminin epidermal growth factor-like motif 2 of the β3 short arm.

PMID 23278291 2015 Herlitz junctional epidermolysis bullosa with a novel mutation in LAMB3.

PMID 9160387 1997 Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa.

PMID 15373767 2004 Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa.

PMID 8983017 1996 Molecular complexity of the cutaneous basement membrane zone.

PMID 9326326 1997 Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa.

PMID 17476356 2007 Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3.

PMID 11451332 2001 Junctional epidermolysis bullosa gravis (Herlitz): diagnostic and genetic aspects.

PMID 7698759 1994 A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa.

rs201223111 in LAMB3;MIR4260 gene and Herlitz Disease PMID 7550237 1995 Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3).

rs1057516473 in LAMC2 gene and Herlitz Disease PMID 16473856 2006 Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.

PMID 7849725 1994 A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa.

PMID 11810295 2002 Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.

PMID 27696112 2017 Laminin: loss-of-function studies.

PMID 11231327 2001 Is screening of the candidate gene necessary in unrelated partners of members of families with Herlitz junctional epidermolysis bullosa?

PMID 15373767 2004 Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa.

PMID 11564184 2001 Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition.

PMID 8983017 1996 Molecular complexity of the cutaneous basement membrane zone.

PMID 17916201 2008 Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population.

PMID 9085255 1997 Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis Bullosa.

PMID 8012394 1994 Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5).

rs146794392 in MIR4260;LAMB3 gene and Herlitz Disease PMID 16473856 2006 Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.

PMID 12813757 2003 Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.

PMID 8824879 1996 Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa.

PMID 9160387 1997 Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa.

PMID 21801158 2011 Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands.