Associated Papers
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population.
Castori M et al.
The British Journal of Dermatology, 2008
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.
Varki R et al.
Journal of Medical Genetics, 2006
Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease.
Mühle C et al.
Human Genetics, 2005
Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa.
Posteraro P et al.
The Journal of Investigative Dermatology, 2004
Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition.
Castiglia D et al.
The Journal of Investigative Dermatology, 2001
The short arm of the laminin gamma2 chain plays a pivotal role in the incorporation of laminin 5 into the extracellular matrix and in cell adhesion.
Gagnoux-Palacios L et al.
The Journal of Cell Biology, 2001
Laminins and human disease.
McGowan KA et al.
Microscopy Research and Technique, 2000
Novel premature termination codon mutations in the laminin gamma2-chain gene (LAMC2) in Herlitz junctional epidermolysis bullosa.
Takizawa Y et al.
The Journal of Investigative Dermatology, 1998
Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis Bullosa.
Pulkkinen L et al.
Molecular Medicine (cambridge, Mass.), 1997
Identification of a homozygous exon-skipping mutation in the LAMC2 gene in a patient with Herlitz's junctional epidermolysis bullosa.
Vailly J et al.
The Journal of Investigative Dermatology, 1995
A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa.
Baudoin C et al.
Human Molecular Genetics, 1994
Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5).
Aberdam D et al.
Nature Genetics, 1994