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ULRIKE SCHWARZE, M.D.
M.D.
Clinical Molecular Genetics Physician
NPI: 1700247921Individual
Specialties, Licenses & Credentials
Clinical Molecular Genetics PhysicianPrimary
Medical Genetics — Clinical Molecular Genetics
Code: 207SG0203X
TR60657399(WA)
Research & Publications (20)
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.
PMID 15077201·Am J Hum Genet·2004
5-case
Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.
PMID 11577371·Am J Hum Genet·2001
8-other
Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).
PMID 10796876·Am J Hum Genet·2000
8-other
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
PMID 18996919·Hum Mol Genet·2009
8-other
Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta.
PMID 18375391·J Biol Chem·2008
8-other
MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV.
PMID 18043893·Int J Cardiovasc Imaging·2008
8-other
Gene targeting of mutant COL1A2 alleles in mesenchymal stem cells from individuals with osteogenesis imperfecta.
PMID 17955022·Mol Ther·2008
7-preclinical
Rapid aneurysmal degeneration of a Stanford type B aortic dissection in a patient with Loeys-Dietz syndrome.
PMID 17599521·J Thorac Cardiovasc Surg·2007
5-case
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.
PMID 17078022·Hum Mutat·2007
6-review
CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.
PMID 17055431·Cell·2006
7-preclinical
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
PMID 16928994·N Engl J Med·2006
8-other
Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders.
PMID 15365990·Hum Mutat·2004
8-other
Gene targeting in stem cells from individuals with osteogenesis imperfecta.
PMID 14976317·Science·2004
7-preclinical
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism.
PMID 12786757·Clin Genet·2003
8-other
Ehlers-Danlos syndrome type IV and a novel mutation of the type III procollagen gene as a cause of abdominal apoplexy.
PMID 12173720·Mayo Clin Proc·2002
5-case
Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I.
PMID 12145749·Am J Hum Genet·2002
5-case
Spontaneous direct carotid-cavernous fistula in Ehlers-Danlos syndrome type IV: two case reports and a review of the literature.
PMID 12131463·J Neuroophthalmol·2002
5-case
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 1959 NE PACIFIC ST, HSB, BOX 357655
SEATTLE, WA 98195 - Phone
- (206) 616-8565
Quick Facts
- NPI
- 1700247921
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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