AM Christiano

<i>FOXN1</i> homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus

Stefania Amorosi, Giuseppe Calcagno, Incoronata Russo et al. · Clinical Genetics · 2008 · 64 citations

Molecular diagnosis of inherited skin diseases: the paradigm of dystrophic epidermolysis bullosa.

AM Christiano, Jouni Uitto · PubMed · 1996 · 63 citations

Molecular Diagnosis, Dystrophic Epidermolysis Bullosa, Cutaneous Biology +6

Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa.

Katsuto Tamai, Akemi Ishida‐Yamamoto, Shingo Matsuo et al. · PubMed · 1997 · 23 citations

Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X‐linked trait

Marija Tadin‐Strapps, J. C. Salas-Alanis, Leticia Flores Moreno et al. · Clinical Genetics · 2003 · 20 citations

Molecular analysis of the human laminin alpha3a chain gene (LAMA3a): a strategy for mutation identification and DNA-based prenatal diagnosis in Herlitz junctional epidermolysis bullosa.

Lea Pulkkinen, Cserhalmi-Friedman Pb, Min Moon Tang et al. · PubMed · 1998 · 20 citations