H. Lam

发表

Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesions.

A. Christiano, A. Martinez-Mir, A. Zlotogorski, 2005, Journal of dermatological science.

Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions

A. Christiano, A. Martinez-Mir, H. Lam, 2005, Clinical and experimental dermatology.

Alopecia universalis associated with a mutation in the human hairless gene.

J. Ott, J. Owen, J. McGrath, 1998, Science.

Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family.

A. Christiano, W. Ahmad, A. Zlotogorski, 1999, Genomics.

Atrichia with papular lesions resulting from compound heterozygous mutations in the hairless gene: A lesson for differential diagnosis of alopecia universalis.

A. Christiano, W. Henn, A. Martinez-Mir, 2002, Journal of the American Academy of Dermatology.

A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers.

J. McGrath, A. Christiano, A. Irvine, 1998, American journal of human genetics.

A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis.

A. Christiano, A. Martinez-Mir, H. Lam, 2004, The Journal of investigative dermatology.

Identification of a Founder Mutation in the Protoporphyrinogen Oxidase Gene in Variegate Porphyria Patients from Chile

A. Christiano, W. Ahmad, J. Frank, 2001, Human Heredity.

Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene

A. Christiano, D. Bickers, H. Tsou, 1996, Human Genetics.

A locus for autosomal recessive hypodontia with associated dental anomalies maps to chromosome 16q12.1.

J. Ott, A. Christiano, W. Ahmad, 1998, American journal of human genetics.

Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.

A. Christiano, M. Poh-Fitzpatrick, J. Frank, 1998, Journal of medical genetics.

Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband.

J. McGrath, R. Graham, A. Christiano, 1998, The Journal of investigative dermatology.

The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope.

R. Friedman, J. McGrath, A. Christiano, 1997, American journal of human genetics.

C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria

J. Frank, H. Lam, H. Merk, 1998, Annals of human genetics.

Erythropoietic protoporphyria: identification of novel mutations in the ferrochelatase gene and comparison of biochemical markers versus molecular analysis as diagnostic strategies.

A. Christiano, W. Ahmad, M. Poh-Fitzpatrick, 1999, Journal of investigative medicine : the official publication of the American Federation for Clinical Research.

Identification of mutations in the transgluataminase 1 gene in lamellar ichthyosis

A. Christiano, H. Lam, P. Cserhalmi-Friedman, 1999, Experimental dermatology.

A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome

J. McGrath, H. Lam, A. Christiano, 2002, Clinical and experimental dermatology.

Identification of a novel splice site mutation in the human hairless gene underlying atrichia with papular lesions.

A. Christiano, A. Martinez-Mir, H. Lam, 2005, European journal of dermatology : EJD.