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Clinical Genetics|December 1, 1994
Clinical, ultrastructural and biochemical studies in two sibs with Ehlers-Danlos syndrome type VI-B-like featuresG Oğur, N Baykan, A De Paepe, et al.
Human Genetics|April 17, 1998
Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamellar ichthyosisH C Hennies, M Raghunath, V Wiebe, et al.
Helvetica Paediatrica Acta|March 1, 1983
Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamideA Niederwieser, B Steinmann, U Exner, et al.
Experimental and Molecular Pathology|August 1, 1994
Ultrastructural analysis of skin and aorta from a patient with Menkes diseaseI Pasquali-Ronchetti, M Baccarani-Contri, R D Young, et al.
The Journal of Biological Chemistry|March 15, 1991
Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IVH Vissing, M D'Alessio, B Lee, et al.
European Journal of Pediatrics|March 1, 1995
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasiaA Superti-Furga, G Eich, H U Bucher, 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.
The Journal of Biological Chemistry|June 25, 1988
Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variantD Weil, M Bernard, N Combates, et al.
The British Journal of Dermatology|April 26, 2006
Plasminogen activator inhibitor-2 is expressed in different types of congenital ichthyosis: in vivo evidence for its cross-linking into the cornified cell envelope by transglutaminase-1V Oji, M E Oji, N Adamini, et al.
The Journal of Biological Chemistry|October 5, 1989
Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VIID Weil, M D'Alessio, F Ramirez, et al.
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