Heritable collagen disorders: the paradigm of the ehlers-danlos syndrome.
J. Invest. Dermatol., 132(E1):E6-E11 (2012)
Recessively inherited forms of osteogenesis imperfecta.
Annu. Rev. Genet., Dec;46:475-97 (2012)
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
Hum. Mol. Genet., Oct (2012)
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
Nat. Genet., Aug;44(8):922-7 (2012)
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.
Am. J. Hum. Genet., May;90(5):925-33 (2012)
Characterization of tissue-specific and developmentally regulated alternative splicing of exon 64 in the COL5A1 gene.
Connect. Tissue Res., 53(3):267-76 (2012)
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.
Eur. J. Hum. Genet., Jan;20(1):11-9 (2012)
COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy.
Genet. Med., Aug;13(8):717-22 (2011)
Need for a consensus on the methods by which to measure joint mobility and the definition of norms for hypermobility that reflect age, gender and ethnic-dependent variation: is revision of criteria for joint hypermobility syndrome and Ehlers-Danlos syndro
Rheumatology (Oxford)., Jun;50(6):1169-71 (2011)
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.
Hum. Mol. Genet., Apr;20(8):1595-609 (2011)
Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance.
Genet. Med., Feb;13(2):125-30 (2011)
Generalized connective tissue disease in Crtap-/- mouse.
PLoS ONE., 5(5):e10560 (2010)
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.
Am. J. Hum. Genet., Apr;86(4):551-9 (2010)
Ehlers-Danlos Syndrome Type IV
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.
Am. J. Hum. Genet., Mar;86(3):389-98 (2010)
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.
J. Med. Genet., Sep;46(9):607-13 (2009)
Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).
Hum. Mutat., Jun;30(6):995-1002 (2009)
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
Hum. Mol. Genet., Feb;18(3):463-71 (2009)
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
Hum. Mutat., Dec;29(12):1435-42 (2008)