704 results on '"Marchuk, Douglas A."'
Search Results
202. ALK1 signalling analysis identifies angiogenesis related genes and reveals disparity between TGF-β and constitutively active receptor induced gene expression
203. Genomic characterization of POS5, the Saccharomyces cerevisiae mitochondrial NADH kinase
204. Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus
205. Functional analysis of a mutant form of the receptor tyrosine kinase Tie2 causing venous malformations
206. Ccm1is required for arterial morphogenesis: implications for the etiology of human cavernous malformations
207. Modifier Locus on Mouse Chromosome 3 for Renal Vascular Pathology in AT 1A Receptor-Deficiency
208. CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations
209. Mutations in a Gene Encoding a Novel Protein Containing a Phosphotyrosine-Binding Domain Cause Type 2 Cerebral Cavernous Malformations
210. Two quantitative trait loci on chromosomes 4 and 18 modify mice survival in a model of heart failure
211. Associations among the NEO Personality Inventory, Revised and the serotonin transporter gene-linked polymorphic region in elders: effects of depression and gender
212. A Kinesin Heavy Chain (KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10)
213. Serotonin-Related Gene Polymorphisms and Central Nervous System Serotonin Function
214. Genetic Modifier Loci Affecting Survival and Cardiac Function in Murine Dilated Cardiomyopathy
215. The Molecular Basis of Cerebrovascular Malformations.
216. Somatic mutation of vascular endothelial growth factor receptors in juvenile hemangioma
217. Central Nervous System Serotonin Function and Cardiovascular Responses to Stress
218. Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia
219. Computational and Experimental Analyses Reveal Previously Undetected Coding Exons of the KRIT1 (CCM1) Gene
220. Additional Glomangioma Families Link to Chromosome 1p: No Evidence for Genetic Heterogeneity
221. RhoA Kinase Inhibition With Fasudil Versus Simvastatin in Murine Models of Cerebral Cavernous Malformations
222. Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect
223. Endoglin, an Ancillary TGFβ Receptor, Is Required for Extraembryonic Angiogenesis and Plays a Key Role in Heart Development
224. Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred
225. Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era.
226. Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis.
227. Endoglin Deficiency Impairs Stroke Recovery.
228. Genetic mapping of a novel familial form of infantile hemangioma
229. Cloning of the Promoter Region of Human Endoglin, the Target Gene for Hereditary Hemorrhagic Telangiectasia Type 1
230. Genetic abnormalities in hereditary hemorrhagic telangiectasia
231. Report on the workshop on hereditary hemorrhagic telangiectasis, July 10‐11, 1997
232. Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles
233. Novel missense and frameshift mutations in the activin receptor‐like kinase‐1 gene in hereditary hemorrhagic telangiectasia
234. The Activin Receptor-Like Kinase 1 Gene: Genomic Structure and Mutations in Hereditary Hemorrhagic Telangiectasia Type 2
235. Chromosome breakpoint at 17q11.2 and insertion of DNA from three different chromosomes in a glioblastoma with exceptional glial fibrillary acidic protein expression
236. A Locus for Cerebral Cavernous Malformations Maps to Chromosome 7q in Two Families
237. Assignment of Human Transforming Growth Factor-β Type I and Type III Receptor Genes (TGFBR1 and TGFBR3) to 9q33-q34 and 1p32-p33, Respectively
238. COL5a1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers—Danlos syndrome type II
239. Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function
240. Natural Genetic Variation of Integrin Alpha L (Itgal) Modulates Ischemic Brain Injury in Stroke.
241. A novel genetic locus modulates infarct volume independently of the extent of collateral circulation.
242. Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis
243. A compound nucleotide repeat in the neurofibro-matosis (NF1) gene
244. The gene for a novel epidermal antigen maps near the neurofibromatosis 1 gene
245. NF1-related locus on chromosome 15
246. A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene
247. Sequencing and analysis of genomic fragments from theNF1locus
248. Updates and future horizons on the understanding, diagnosis, and treatment of Sturge-Weber syndrome brain involvement.
249. Fasudil Decreases Lesion Burden in a Murine Model of Cerebral Cavernous Malformation Disease.
250. A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease.
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