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American Journal of Human Genetics|March 1, 1991
Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IVB Lee, M D'Alessio, H Vissing, et al.
Genetic Counseling (Geneva, Switzerland)|May 23, 2007
Duane anomaly, meningomyelocele, dextroposition of heart and localized vertebrocostal alterations with associated anomalies in a girlO Cogulu, C Gunduz, E Karaca, et al.
European Journal of Pediatrics|March 1, 1990
Radiological "metamorphosis" in a patient with severe congenital osteogenesis imperfectaF Pendola, C Borrone, M Filocamo, et al.
American Journal of Medical Genetics|September 1, 1989
Ehlers-Danlos syndrome type IV: a subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagenB Steinmann, A Superti-Furga, H I Joller-Jemelka, et al.
Journal of Medical Genetics|August 1, 1996
The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasiaA Winterpacht, A Superti-Furga, U Schwarze, et al.
American Journal of Medical Genetics. Part A|April 11, 2003
Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomiaM Di Rocco, G Stella, C Bruno, et al.
Journal of Medical Genetics|August 28, 1999
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutationA Superti-Furga, L Neumann, T Riebel, et al.
American Journal of Medical Genetics|July 23, 1998
Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping"A Superti-Furga, R Tenconi, M Clementi, et al.
Helvetica Paediatrica Acta|August 1, 1988
Effects of the long-acting somatostatin analogue SMS 201-995 in an infant with intractable diarrheaU A Hunziker, A Superti-Furga, M Zachmann, et al.
American Journal of Medical Genetics|April 12, 2001
Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literatureU Stucki, M A Spycher, G Eich, et al.
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