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Items: 1 to 20 of 1836


Correlation between CTLA-4 and CD40 gene polymorphisms and their interaction in graves' disease in a Chinese Han population.

Chen X, Hu Z, Liu M, Li H, Liang C, Li W, Bao L, Chen M, Wu G.

BMC Med Genet. 2018 Sep 17;19(1):171. doi: 10.1186/s12881-018-0665-y.


Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy.

Zheng S, Liao W.

BMC Med Genet. 2018 Sep 17;19(1):172. doi: 10.1186/s12881-018-0683-9.


First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.

Baban A, Magliozzi M, Loeys B, Adorisio R, Alesi V, Secinaro A, Corica B, Vricella L, Dietz HC, Drago F, Novelli A, Amodeo A.

BMC Med Genet. 2018 Sep 15;19(1):170. doi: 10.1186/s12881-018-0661-2.


Potential role for nectin-4 in the pathogenesis of pre-eclampsia: a molecular genetic study.

Ito M, Nishizawa H, Tsutsumi M, Kato A, Sakabe Y, Noda Y, Ohwaki A, Miyazaki J, Kato T, Shiogama K, Sekiya T, Kurahashi H, Fujii T.

BMC Med Genet. 2018 Sep 14;19(1):166. doi: 10.1186/s12881-018-0681-y.


Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria.

Peng W, Ma XW, Yang X, Zhang WQ, Yan L, Wang YX, Liu X, Wang Y, Feng ZC.

BMC Med Genet. 2018 Sep 14;19(1):167. doi: 10.1186/s12881-018-0675-9.


Association between GDF5 rs143383 genetic polymorphism and musculoskeletal degenerative diseases susceptibility: a meta-analysis.

Huang X, Zhang W, Shao Z.

BMC Med Genet. 2018 Sep 14;19(1):169. doi: 10.1186/s12881-018-0685-7.


Notch polymorphisms associated with sensitivity of noise induced hearing loss among Chinese textile factory workers.

Ding E, Liu J, Shen H, Gong W, Zhang H, Song H, Zhu B.

BMC Med Genet. 2018 Sep 14;19(1):168. doi: 10.1186/s12881-018-0676-8.


Genetically determined high activities of the TNF-alpha, IL23/IL17, and NFkB pathways were associated with increased risk of ankylosing spondylitis.

Sode J, Bank S, Vogel U, Andersen PS, Sørensen SB, Bojesen AB, Andersen MR, Brandslund I, Dessau RB, Hoffmann HJ, Glintborg B, Hetland ML, Locht H, Heegaard NH, Andersen V.

BMC Med Genet. 2018 Sep 12;19(1):165. doi: 10.1186/s12881-018-0680-z.


GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report.

Ho CC, Tsung LL, Liu KT, Poon WT.

BMC Med Genet. 2018 Sep 12;19(1):162. doi: 10.1186/s12881-018-0679-5.


Three cases of multicentric carpotarsal osteolysis syndrome: a case series.

Park PG, Kim KH, Hyun HS, Lee CH, Park JS, Kie JH, Choi YH, Moon KC, Cheong HI.

BMC Med Genet. 2018 Sep 12;19(1):164. doi: 10.1186/s12881-018-0682-x.


Hemophagocytic lymphohistiocytosis and congenital factor VII deficiency: a case report.

Wang X, Tang N, Chang W, Lu Y, Li D.

BMC Med Genet. 2018 Sep 12;19(1):163. doi: 10.1186/s12881-018-0673-y.


Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.

Lin S, Harlalka GV, Hameed A, Reham HM, Yasin M, Muhammad N, Khan S, Baple EL, Crosby AH, Saleha S.

BMC Med Genet. 2018 Sep 10;19(1):160. doi: 10.1186/s12881-018-0678-6.


First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene.

Chebly A, Corbani S, Abou Ghoch J, Mehawej C, Megarbane A, Chouery E.

BMC Med Genet. 2018 Sep 10;19(1):161. doi: 10.1186/s12881-018-0677-7.


Factor XIII polymorphism and risk of aneurysmal subarachnoid haemorrhage in a south Indian population.

Suvatha A, Sibin MK, Bhat DI, Narasingarao KVL, Vazhayil V, Chetan GK.

BMC Med Genet. 2018 Sep 5;19(1):159. doi: 10.1186/s12881-018-0674-x.


Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G.

Al-Qattan MM, Hadadi A, Al-Thunayan AM, Eldali AA, AlBalwi MA.

BMC Med Genet. 2018 Sep 4;19(1):158. doi: 10.1186/s12881-018-0672-z.


Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families.

Su Y, Gao X, Huang SS, Mao JN, Huang BQ, Zhao JD, Kang DY, Zhang X, Dai P.

BMC Med Genet. 2018 Sep 4;19(1):157. doi: 10.1186/s12881-018-0630-9.


Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report.

Riise N, Lindberg BR, Kulseth MA, Fredwall SO, Lundby R, Estensen ME, Drolsum L, Merckoll E, Krohg-Sørensen K, Paus B.

BMC Med Genet. 2018 Aug 31;19(1):155. doi: 10.1186/s12881-018-0671-0.


Common FTO rs9939609 variant and risk of type 2 diabetes in Palestine.

Sabarneh A, Ereqat S, Cauchi S, AbuShamma O, Abdelhafez M, Ibrahim M, Nasereddin A.

BMC Med Genet. 2018 Aug 31;19(1):156. doi: 10.1186/s12881-018-0668-8.


A variant in KCNQ1 gene predicts metabolic syndrome among northern urban Han Chinese women.

Liu Y, Wang C, Chen Y, Yuan Z, Yu T, Zhang W, Tang F, Gu J, Xu Q, Chi X, Ding L, Xue F, Zhang C.

BMC Med Genet. 2018 Aug 29;19(1):153. doi: 10.1186/s12881-018-0652-3.

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