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377 results on '"Letter to JMG"'

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201. Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2

202. Inadvertent diagnosis of male infertility through genealogical DNA testing

203. Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

204. Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at –1249

205. Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases

206. Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11

207. Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study

208. Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency

209. A genome-wide scan of non-syndromic cleft palate only (CPO) in Finnish multiplex families

210. Mapping of psoriasis to 17q terminus

211. Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis

212. Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour

213. A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1–12q14

214. A full genome scan for gastric cancer

215. Interleukin 12 gene polymorphisms enhance gastric cancer risk in H pylori infected individuals

216. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

217. Putative functional alleles of DYX1C1 are not associated with dyslexia susceptibility in a large sample of sibling pairs from the UK [Letter to JMG]

218. The ser9gly SNP in the dopamine D3 receptor causes a shift from cAMP related to PGE2 related signal transduction mechanisms in transfected CHO cells

219. Large quantitative effect of melanocortin-4 receptor gene mutations on body mass index

220. Mutations of the mitochondrial ND1 gene as a cause of MELAS

221. Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2

222. An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma

223. Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map

224. Lamin A expression levels are unperturbed at the normal and mutant alleles but display partial splice site selection in Hutchinson-Gilford progeria syndrome

225. Polymorphisms in the mannose binding lectin gene affect the cystic fibrosis pulmonary phenotype

226. Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2

227. Heterozygote excess is repeatedly observed in females at the BRCA2 locus N372H

228. Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta

229. Genetic susceptibility in familial melanoma from northeastern Italy

230. Familial X/Y translocations associated with variable sexual phenotype

231. High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation

232. Estimating the age of rare disease mutations: the example of Triple-A syndrome

233. An autosomal recessive cone–rod dystrophy associated with amelogenesis imperfecta

234. Glutathione S-transferase M1, T1 status and the risk of head and neck cancer: a meta-analysis

235. Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1

236. Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome

237. Mitochondrial DNA haplogroups influence the Friedreich's ataxia phenotype

238. Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism

239. No association between a previously reported OLR1 3' UTR polymorphism and Alzheimer's disease in a large family sample

240. Isolated congenital anosmia locus maps to 18p11.23-q12.2

241. Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates

242. Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36

243. Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3

244. TBX22 mutations are a frequent cause of cleft palate

245. Congo red, doxycycline, and HSP70 overexpression reduce aggregate formation and cell death in cell models of oculopharyngeal muscular dystrophy

246. Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC

247. A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood

248. A case control and family based association study of the neuregulin1 gene and schizophrenia

249. Common apolipoprotein E polymorphisms and risk of clinical malaria in the Gambia

250. Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

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