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Ehlers‐Danlos syndromes: Revised nosology, Villefranche, 1997
TLDR
This work proposes a revision of the classification of the Ehlers-Danlos syndromes based primarily on the cause of each type based on major and minor diagnostic criteria defined for each type and complemented whenever possible with laboratory findings.
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
Split-hand/split-foot malformation (SHFM), a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or
Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1
TLDR
The identified causative point mutation in the gene encoding the bone morphogenetic protein (BMP)–like molecule, cartilage-derived morphogenetics protein–1 (CDMP-1) provides the first human genetic indication that composite expression patterns of different BMPs dictate limb and digit morphogenesis.
Life expectancy in the Marfan syndrome.
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).
TLDR
This work proposes a revision of the classification of the Ehlers-Danlos syndromes based primarily on the cause of each type based on major and minor diagnostic criteria defined for each type and complemented whenever possible with laboratory findings.
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes
TLDR
The cosegregation of two related genes with two related syndromes implies that fibrillin mutations are likely to be responsible for different MFS phenotypes.
Oral findings in osteogenesis imperfecta.
Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2.
TLDR
From these results, approximate 95% confidence limits for the proportion of families linked to the type I collagen genes can be set between .91 and 1.00, high enough to base prenatal diagnosis of dominantly inherited OI on linkage to these genes even in families which are too small for the linkage to be independently confirmed to high levels of significance.
Psychosocial functioning in the Ehlers-Danlos syndrome.
TLDR
Psychological difficulties appear to result from chronic pain and disability, ostracism or avoidance of relationships and social activities, sexual difficulties and reproductive concerns, and frustration with the medical system.
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