BMC Medical Genetics - oalib

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BMC Medical Genetics

ISSN Print: 1471-2350

ISSN Online:

主页: http://www.biomedcentral.com/bmcmedgenet

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Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3

Jamsheer Aleksander,Sowińska Anna,Simon Dorota,Jamsheer-Bratkowska Ma？gorzata

Potential contribution of SIM2 and ETS2 functional polymorphisms in Down syndrome associated malignancies

Chatterjee Arpita,Dutta Samikshan,Mukherjee Sanjit,Mukherjee Nupur

Reduced genetic influence on childhood obesity in small for gestational age children

Han Dug Yeo,Murphy Rinki,Morgan Angharad R,Lam Wen Jiun

Meta-analysis of associations between TCF7L2 polymorphisms and risk of type 2 diabetes mellitus in the Chinese population

Wang Jinjin,Hu Fulan,Feng Tianping,Zhao Jingzhi

Association between paraoxonase gene and stroke in the Han Chinese population

Zhang Guojun,Li Wenjin,Li Zhiqiang,Lv Hong

Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients

Romero-Quintana José G,Frías-Castro Luis O,Arámbula-Meraz Eliakym,Aguilar-Medina Maribel

The silence of MUC2 mRNA induced by promoter hypermethylation associated with HBV in Hepatocellular Carcinoma

Ling Yang,Zhu Jing,Gao Lu,Liu Yongping

Assessment of the 9p21.3 locus in severity of coronary artery disease in the presence and absence of type 2 diabetes

Rivera Natalia V,Carreras-Torres Robert,Roncarati Roberta,Viviani-Anselmi Chiara

Contribution of the PALB2 c.2323C>T [p.Q775X] Founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent

Tischkowitz Marc,Sabbaghian Nelly,Hamel Nancy,Pouchet Carly

Mitochondrial DNA haplogroups confer differences in risk for age-related macular degeneration: a case control study

Kenney M Cristina,Hertzog Dieter,Chak Garrick,Atilano Shari R

Study design of DIACORE (DIAbetes COhoRtE) – a cohort study of patients with diabetes mellitus type 2

D？rh？fer Lena,Lammert Alexander,Krane Vera,Gorski Mathias

Analysis of the contribution of FTO, NPC1, ENPP1, NEGR1, GNPDA2 and MC4R genes to obesity in Mexican children

Mejía-Benítez Aurora,Klünder-Klünder Miguel,Yengo Loic,Meyre David

Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests

Wang Li-Yun,Chen Nien-I,Chen Pin-Wen,Chiang Shu-Chuan

Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma

Losonczy Gergely,Fazakas Ferenc,Pfliegler Gy？rgy,Komáromi István

Risk loci for coronary artery calcification replicated at 9p21 and 6q24 in the Heinz Nixdorf Recall Study

Pechlivanis Sonali,Mühleisen Thomas W,M？hlenkamp Stefan,Schadendorf Dirk

Effects of smoking on the genetic risk of obesity: the population architecture using genomics and epidemiology study

Fesinmeyer Megan D,North Kari E,Lim Unhee,B？？ková Petra

Microsomal triglyceride transfer protein -164 T > C gene polymorphism and risk of cardiovascular disease: results from the EPIC-Potsdam case-cohort study

di Giuseppe Romina,Pechlivanis Sonali,Fisher Eva,Arregui Maria

Family-based associations in measures of psychological distress and quality of life in a cardiac screening clinic for inheritable cardiac diseases: a cross-sectional study

McGorrian Catherine,McShane Charlene,McQuade Colin,Keelan Ted

Lack of association between a functional variant of the BRCA-1 related associated protein (BRAP) gene and ischemic stroke

Liao Yi-Chu,Lin Hsiu-Fen,Guo Yuh-Cherng,Chen Chung-Hung

Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity

Johanna Korvala, Harald Jüppner, Outi M？kitie, Etienne Sochett, Dirk Schnabel, Stefano Mora, Cynthia F Bartels, Matthew L Warman, Donald Deraska, William G Cole, Heini Hartikka, Leena Ala-Kokko, Minna M？nnikk？

Association of polymorphisms in survivin gene with the risk of hepatocellular carcinoma in Chinese han population: a case control study

Yuhua Li, Jiaofeng Wang, Feng Jiang, Wenyao Lin, Wei Meng

Polymorphisms in the mitochondrial oxidative phosphorylation chain genes as prognostic markers for colorectal cancer

Jesus Lascorz, Melanie Bevier, Witigo V Sch？nfels, Holger Kalthoff, Heiko Aselmann, Jan Beckmann, Jan Egberts, Stephan Buch, Thomas Becker, Stefan Schreiber, Jochen Hampe, Kari Hemminki, Asta F？rsti, Clemens Schafmayer

The MAP2K5-linked SNP rs2241423 is associated with BMI and obesity in two cohorts of Swedish and Greek children

Mathias Rask-Andersen, Josefin A Jacobsson, George Moschonis, Anna E Ek, George P Chrousos, Claude Marcus, Yannis Manios, Robert Fredriksson, Helgi B Schi？th

Identification of 3 novel VHL germ-line mutations in Danish VHL patients

Mette Dandanell, Lennart Friis-Hansen, Lone Sunde, Finn C Nielsen, Thomas vO Hansen

Estrogen receptor alpha gene polymorphisms and risk of HBV-related acute liver failure in the Chinese population

Zehui Yan, Wenting Tan, Yunjie Dan, Wenli Zhao, Chunqing Deng, Yuming Wang, Guohong Deng

Relationships between the ABO blood group SNP rs505922 and breast cancer phenotypes: a genotype-phenotype correlation study

Seth Rummel, Craig D Shriver, Rachel E Ellsworth

The C allele of JAK2 rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population

Junko H Ohyashiki, Masayuki Yoneta, Hisashi Hisatomi, Tamiko Iwabuchi, Tomohiro Umezu, Kazuma Ohyashiki

Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report

Aleksander Jamsheer, Anna Sowińska, Leszek Kaczmarek, Anna Latos-Bieleńska

Possible role of EMID2 on nasal polyps pathogenesis in Korean asthma patients

Charisse Flerida Pasaje, Joon Seol Bae, Byung-Lae Park, Hyun Sub Cheong, Jeong-Hyun Kim, An-Soo Jang, Soo-Taek Uh, Choon-Sik Park, Hyoung Doo Shin

The Renalase Asp37Glu polymorphism is not associated with hypertension and cardiovascular events in an urban-based prospective cohort: the Malm？ Diet and cancer study

Cristiano Fava, Martina Montagnana, Elisa Danese, Marketa Sj？gren, Peter Almgren, Gunnar Engstr？m, Bo Hedblad, Gian Cesare Guidi, Pietro Minuz, Olle Melander

A genome wide association study of pulmonary tuberculosis susceptibility in Indonesians

Eileen Png, Bachti Alisjahbana, Edhyana Sahiratmadja, Sangkot Marzuki, Ron Nelwan, Yanina Balabanova, Vladyslav Nikolayevskyy, Francis Drobniewski, Sergey Nejentsev, Iskandar Adnan, Esther van de Vosse, Martin L Hibberd, Reinout van Crevel, Tom HM Ottenhoff, Mark Seielstad

Data mining of high density genomic variant data for prediction of Alzheimer's disease risk

Natalia Briones, Valentin Dinu

Association of cytochrome P450 genetic polymorphisms with neoadjuvant chemotherapy efficacy in breast cancer patients

Tatyana A Seredina, Olga B Goreva, Valeria O Talaban, Alevtina Yu Grishanova, Vyacheslav V Lyakhovich

The combined effect of the T2DM susceptibility genes is an important risk factor for T2DM in non-obese Japanese: a population based case-control study

Kimiko Yamakawa-Kobayashi, Maki Natsume, Shingo Aoki, Sachi Nakano, Tomoko Inamori, Nobuhiko Kasezawa, Toshinao Goda

Cheek swabs, SNP chips, and CNVs: Assessing the quality of copy number variant calls generated with subject-collected mail-in buccal brush DNA samples on a high-density genotyping microarray

Stephen W Erickson, Stewart L MacLeod, Charlotte A Hobbs

An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation

John F Staropoli, Winnie Xin, Rosemary Barone, Susan L Cotman, Katherine B Sims

Genetic analyses of smoking initiation, persistence, quantity, and age-at-onset of regular cigarette use in Brazilian families: the Baependi Heart Study

Andréa RVR Horimoto, Camila M Oliveira, Suely R Giolo, Júlia P Soler, Mariza de Andrade, José E Krieger, Alexandre C Pereira

A case-only study of gene-environment interaction between genetic susceptibility variants in NOD2 and cigarette smoking in Crohn's disease aetiology

Katherine L Helbig, Michael Nothnagel, Jochen Hampe, Tobias Balschun, Susanna Nikolaus, Stefan Schreiber, Andre Franke, Ute N？thlings

The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro

Elisabetta Tabolacci, Filomena Pirozzi, Baltazar Gomez-Mancilla, Fabrizio Gasparini, Giovanni Neri

Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study

Lisa F Potts, Alex C Cambon, Owen A Ross, Rosa Rademakers, Dennis W Dickson, Ryan J Uitti, Zbigniew K Wszolek, Shesh N Rai, Matthew J Farrer, David W Hein, Irene Litvan

SNP-set analysis replicates acute lung injury genetic risk factors

Nuala J Meyer, Z. John Daye, Melanie Rushefski, Richard Aplenc, Paul N Lanken, Michael G.S. Shashaty, Jason D Christie, Rui Feng

The effect of FOXA2 rs1209523 on glucose-related phenotypes and risk of type 2 diabetes in Danish individuals

Karina Banasik, Mette Hollensted, Ehm Andersson, Thomas Spars？, Annelli Sandb？k, Torsten Lauritzen, Torben J？rgensen, Daniel R Witte, Oluf Pedersen, Torben Hansen

Genetic variants associated with breast size also influence breast cancer risk

Nicholas Eriksson, Geoffrey M Benton, Chuong B Do, Amy K Kiefer, Joanna L Mountain, David A Hinds, Uta Francke, Joyce Y Tung

A novel SYBR-based duplex qPCR for the detection of gene dosage: detection of an APC large deletion in a familial adenomatous polyposis patient with an unusual phenotype

Giovana Tardin Torrezan, Felipe Cavalcanti Carneiro da Silva, Ana Cristina Victorino Krepischi, érika Maria Monteiro dos Santos, Benedito Mauro Rossi, Dirce Maria Carraro

Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL3

Madhushika Ratnayake, Louise N Reynard, Emma VA Raine, Mauro Santibanez-Koref, John Loughlin

Genetic analysis of polymorphisms in the kalirin gene for association with age-at-onset in European Huntington disease patients

Yu-Chun Tsai, Silke Metzger, Olaf Riess, Anne S Soehn, Huu Phuc Nguyen

High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort

Susana Santos, Vanda Marques, Marina Pires, Leonor Silveira, Helena Oliveira, Vasco Lan？a, Dulce Brito, Hugo Madeira, J Fonseca Esteves, António Freitas, Isabel M Carreira, Isabel M Gaspar, Carolino Monteiro, Alexandra R Fernandes

Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature

Tom B Davidson, Pedro A Sanchez-Lara, Linda M Randolph, Mark D Krieger, Shi-Qi Wu, Ashok Panigrahy, Hiroyuki Shimada, Anat Erdreich-Epstein

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