Giangiorgio Crisponi

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

Hans van Bokhoven, Ben C.J. Hamel, Mike Bamshad et al. · The American Journal of Human Genetics · 2001 · 378 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1

Laura Crisponi, Giangiorgio Crisponi, Alessandra Meloni et al. · The American Journal of Human Genetics · 2007 · 89 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Antley-Bixler syndrome

Giangiorgio Crisponi, CARMELA PORCU, MARIA ELISABETTA PIU · Clinical Dysmorphology · 1997 · 65 citations

Medicine, Orthopaedic Surgery, Orthopedic Surgery +17

Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: A new syndrome?

Giangiorgio Crisponi · American Journal of Medical Genetics · 1996 · 56 citations

Medicine, Neurology, Pediatrics +15

Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders

Jana Herholz, Alessandra Meloni, Mara Marongiu et al. · European Journal of Human Genetics · 2011 · 41 citations · Full text

Life Sciences, Genetics, Molecular Biology +4