Works matching DE "CONNECTIVE tissue disease genetics"
Results: 16
Shaping Skeletal Growth by Modular Regulatory Elements in the Bmp5 Gene.
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- PLoS Genetics, 2008, v. 4, n. 12, p. 1, doi. 10.1371/journal.pgen.1000308
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- Article
Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations.
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- Nature Reviews Genetics, 2009, v. 10, n. 3, p. 173, doi. 10.1038/nrg2520
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- Article
Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0122-5
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- Article
NewABCC6gene mutations in German pseudoxanthoma elasticum patients.
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- Journal of Molecular Medicine, 2005, v. 83, n. 2, p. 140, doi. 10.1007/s00109-004-0588-2
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- Article
Emergent airway management in a case of fibrodysplasia ossificans progressiva.
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- Journal of Anaesthesiology Clinical Pharmacology, 2014, v. 30, n. 4, p. 565, doi. 10.4103/0970-9185.142865
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- Article
Loeys-Dietz syndrome in a Southeast Asian Hospital: a case series.
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- European Journal of Pediatrics, 2014, v. 173, n. 3, p. 387, doi. 10.1007/s00431-013-2187-0
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- Article
Identification of a New Splice Variant of the Human ABCC6 Transporter.
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- Research Letters in Biochemistry, 2008, p. 1, doi. 10.1155/2008/912478
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- Article
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.
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- Nature Genetics, 2000, v. 25, n. 2, p. 223, doi. 10.1038/76102
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- Article
Mutations in ABCC6 cause pseudoxanthoma elasticum.
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- Nature Genetics, 2000, v. 25, n. 2, p. 228, doi. 10.1038/76109
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- Article
A novel 110-bp insertion in a patient with homocysteinuria.
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- 2011
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- Letter
Intermittent hypoxia activates temporally coordinated transcriptional programs in visceral adipose tissue.
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- Journal of Molecular Medicine, 2012, v. 90, n. 4, p. 435, doi. 10.1007/s00109-011-0830-7
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- Article
Polymorphisms in STAT4 and IRF5 increase the risk of systemic sclerosis: a meta-analysis.
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- International Journal of Dermatology, 2016, v. 55, n. 4, p. 408, doi. 10.1111/ijd.12839
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- Article
Novel classification for global gene signature model for predicting severity of systemic sclerosis.
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- PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199314
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- Article
Clinical Phenotype of Musladin-Lueke Syndrome in 2 Beagles.
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- Journal of Veterinary Internal Medicine, 2017, v. 31, n. 2, p. 532, doi. 10.1111/jvim.14654
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- Article
Molecular characterization of β1,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers–Danlos syndrome (EDS)
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- FEBS Letters, 2010, v. 584, n. 18, p. 3962, doi. 10.1016/j.febslet.2010.08.001
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- Article
Multi-exon deletions of the FBN1 gene in Marfan syndrome.
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- BMC Medical Genetics, 2001, v. 2, p. 1
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- Article