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)
Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta.
J. Biol. Chem., Jun;283(23):16061-7 (2008)
The bicuspid aortic valve: an integrated phenotypic classification of leaflet morphology and aortic root shape.
Heart., Dec;94(12):1634-8 (2008)
Natural variation in four human collagen genes across an ethnically diverse population.
Genomics., Apr;91(4):307-14 (2008)
Gene targeting of mutant COL1A2 alleles in mesenchymal stem cells from individuals with osteogenesis imperfecta.
Mol. Ther., Jan;16(1):187-93 (2008)
Type XXVII collagen at the transition of cartilage to bone during skeletogenesis.
Bone., Oct;41(4):535-42 (2007)
Usefulness of bicuspid aortic valve phenotype to predict elastic properties of the ascending aorta.
Am. J. Cardiol., Mar;99(5):686-90 (2007)
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
Hum. Mutat., Mar;28(3):209-21 (2007)
CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.
Cell., Oct;127(2):291-304 (2006)
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
N. Engl. J. Med., Aug;355(8):788-98 (2006)
Genetic evaluation of suspected osteogenesis imperfecta (OI).
Genet. Med., Jun;8(6):383-8 (2006)
2005 ASHG Award for Excellence in Human Genetics Education. Introductory speech of Joseph D. McInerney.
Am. J. Hum. Genet., Mar;78(3):373 (2006)
2005 ASHG Presidential Address. If only we spoke the same language--we would have so much to discuss.
Am. J. Hum. Genet., Mar;78(3):368-72 (2006)
Bovine model of Marfan syndrome results from an amino acid change (c.3598G > A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1.
Hum. Mutat., Apr;25(4):348-52 (2005)
Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders.
Hum. Mutat., Oct;24(4):330-7 (2004)
Determination of the molecular basis of Marfan syndrome: a growth industry.
J. Clin. Invest., Jul;114(2):161-3 (2004)
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
Am. J. Hum. Genet., May;74(5):917-30 (2004)
Gene targeting in stem cells from individuals with osteogenesis imperfecta.
Science., Feb;303(5661):1198-201 (2004)
Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal.
Eur. J. Hum. Genet., Feb;12(2):121-6 (2004)
Multiple vascular and bowel ruptures in an adolescent male with sporadic Ehlers-Danlos syndrome type IV.
Pediatr. Dev. Pathol., 2(1):86-93 (1999 Jan-Feb)
Pedigrees-publish? or perish the thought?
Am. J. Hum. Genet., Sep;63(3):678-81 (1998)
Joint hypermobility syndromes.
Curr Opin Rheumatol., Sep;8(5):459-66 (1996)
Spontaneous multivessel cervical artery dissection in a patient with a substitution of alanine for glycine (G13A) in the alpha 1 (I) chain of type I collagen.
Neurology., Aug;47(2):552-6 (1996)
A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.
Nat. Genet., Jul;13(3):361-5 (1996)
Aortic root complications in Marfan's syndrome: identification of a lower risk group.
Heart., Apr;75(4):389-95 (1996)
Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene.
Am. J. Med. Genet., Mar;62(3):233-42 (1996)
A dimorphic Alu Sb-like insertion in COL3A1 is ethnic-specific.
J. Mol. Evol., Feb;42(2):117-23 (1996)
Clinical anatomy instruction in the operating room.
Clin Anat., 9(6):405-7 (1996)
Cerebrovascular complications in Ehlers-Danlos syndrome type IV.
Ann. Neurol., Dec;38(6):960-4 (1995)
Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide which impair subunit assembly.
J. Biol. Chem., Apr;270(15):8642-9 (1995)
Etiology of osteogenesis imperfecta: an overview of biochemical and molecular genetic analyses.
Connect. Tissue Res., 31(4):257-9 (1995)
Frontiers in rehabilitation medicine: osteogenesis imperfecta, overview of a conference.
Connect. Tissue Res., 31(4):253-5 (1995)
Ehlers-Danlos syndrome: recent advances and current understanding of the clinical and genetic heterogeneity.
J. Invest. Dermatol., Nov;103(5 Suppl):47S-52S (1994)
Sequence of the coding region of the bovine fibrillin cDNA and localization to bovine chromosome 10.
Genomics., Sep;23(2):480-5 (1994)
Type IV Ehlers-Danlos syndrome with aspirin sensitivity. A family study.
Arch. Pathol. Lab. Med., Oct;117(10):989-92 (1993)
First-trimester prenatal diagnosis of osteogenesis imperfecta type II by DNA analysis and sonography.
Prenat. Diagn., Jul;13(7):589-96 (1993)
Biochemical genetics: examples of life after cloning.
Curr. Opin. Genet. Dev., Jun;3(3):475-83 (1993)
Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta.
Hum. Mutat., 2(1):21-7 (1993)
Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts.
J. Clin. Invest., Jan;89(1):79-86 (1992)
Annu. Rev. Med., 43:269-82 (1992)
Cysteine in the triple helical domain of the pro alpha 2(I) chain of type-I collagen in nonlethal forms of osteogenesis imperfecta.
Hum. Genet., Jun;87(2):167-72 (1991)
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.
Hum. Genet., May;87(1):33-40 (1991)
Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV.
J. Biol. Chem., Mar;266(8):5244-8 (1991)
The effects of different cysteine for glycine substitutions within alpha 2(I) chains. Evidence of distinct structural domains within the type I collagen triple helix.
J. Biol. Chem., Feb;266(4):2590-4 (1991)
Advantages of automating vital signs measurement.
Nurs Econ., 8(4):244-7, 267 (1990 Jul-Aug)
Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta.
Am. J. Hum. Genet., May;46(5):975-82 (1990)
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).
Am. J. Hum. Genet., Mar;46(3):591-601 (1990)
Psychiatric nurses' and patients' perceptions of discussion topics in therapeutic groups.
Issues Ment Health Nurs., 11(2):185-91 (1990)
Skin is a window on heritable disorders of connective tissue.
Am. J. Med. Genet., Sep;34(1):105-21 (1989)
Heterogeneity of elastin expression in cutis laxa fibroblast strains.
J. Invest. Dermatol., Jul;93(1):147-53 (1989)
Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta.
J. Biol. Chem., Jun;263(17):8398-404 (1988)
Familial aortic dissection in absence of ascending aortic aneurysms: a lethal syndrome associated with precocious systemic hypertension.
Am J Cardiovasc Pathol., Jan;1(1):55-67 (1987)
Infant crying during aircraft descent.
Nurs Res., 35(5):260-2 (1986 Sep-Oct)
Relation of students' premedical majors to participation in research in medical school.
J Med Educ., Jan;59(1):54-7 (1984)