Publication catalog

Biomedical publications with connected research

Browse 1,060,000 source-attributed publications. Article pages show available bibliographic context, indexed concepts and SPECTER2 related publications where supported by the source and graph. Missing metadata is not invented, and source retraction notices remain visible.

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Publications

Page 6123 of 10600

Risk and information evaluation of prioritized genes for complex traits: application to bipolar disorder.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics | 2014-10-01 | PMID 25123107
Kao Chung-Feng, Chuang Li-Chung, Kuo Po-Hsiu
Characterization of newly gained introns in Daphnia populations.
Genome biology and evolution | 2014-08-14 | PMID 25123113
Li Wenli, Kuzoff Robert, Wong Chen Khuan and 2 more
Overexpression of miR-146a in basal-like breast cancer cells confers enhanced tumorigenic potential in association with altered p53 status.
Carcinogenesis | 2014-11-01 | PMID 25123132
Sandhu Rupninder, Rein Jessica, D'Arcy Monica and 3 more
Genes: FADD, TRADD
Association between phosphatase related gene variants and coronary artery disease: case-control study and meta-analysis.
International journal of molecular sciences | 2014-08-13 | PMID 25123136
Han Xia, Zhang Lijun, Zhang Zhiqiang and 4 more
Genes: CAD, ACP1, PTPN11
Toward modular biological models: defining analog modules based on referent physiological mechanisms.
BMC systems biology | 2014-08-16 | PMID 25123169
Petersen Brenden K, Ropella Glen E P, Hunt C Anthony
Deep sequencing reveals clonal evolution patterns and mutation events associated with relapse in B-cell lymphomas.
Genome biology | 2014-08-15 | PMID 25123191
Jiang Yanwen, Redmond David, Nie Kui and 7 more
Twelve-single nucleotide polymorphism genetic risk score identifies individuals at increased risk for future atrial fibrillation and stroke.
Stroke | 2014-10-01 | PMID 25123217
Tada Hayato, Shiffman Dov, Smith J Gustav and 9 more
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.
American journal of medical genetics. Part A | 2014-10-01 | PMID 25123255
Wenger Tara L, Harr Margaret, Ricciardi Stefania and 21 more
Genes: ZEB2
Fatty acid desaturase 1 gene polymorphisms control human hepatic lipid composition.
Hepatology (Baltimore, Md.) | 2015-01-01 | PMID 25123259
Wang Libo, Athinarayanan Shaminie, Jiang Guanglong and 3 more
Genes: FADS1, FADS2, FADS3
Genetic variants in the KDR gene is associated with the prognosis of transarterial chemoembolization treated hepatocellular carcinoma.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine | 2014-11-01 | PMID 25123269
Zheng You-Bing, Huang Jian-Wen, Zhan Mei-Xiao and 6 more
Genes: KDR, AFP
Transcriptional and epigenetic regulation of T-helper lineage specification.
Immunological reviews | 2014-09-01 | PMID 25123277
Tripathi Subhash K, Lahesmaa Riitta
Intracolonial genetic variation affects reproductive skew and colony productivity during colony foundation in a parthenogenetic termite.
BMC evolutionary biology | 2014-08-14 | PMID 25123355
Miyazaki Satoshi, Yoshimura Miho, Saiki Ryota and 4 more
[Hereditary transthyretin amyloidosis].
Der Nervenarzt | 2014-10-01 | PMID 25123367
Hund E
Genes: FAP
Long term follow-up of four patients with Keutel syndrome.
American journal of medical genetics. Part A | 2014-11-01 | PMID 25123378
Khosroshahi H E, Sahin S C, Akyuz Y and 1 more
Genes: MGP
Synthesis and evaluation of translocator 18 kDa protein (TSPO) positron emission tomography (PET) radioligands with low binding sensitivity to human single nucleotide polymorphism rs6971.
ACS chemical neuroscience | 2014-10-15 | PMID 25123416
Zanotti-Fregonara Paolo, Zhang Yi, Jenko Kimberly J and 10 more
Genes: TSPO
A terminal 3p26.3 deletion is not associated with dysmorphic features and intellectual disability in a four-generation family.
American journal of medical genetics. Part A | 2014-11-01 | PMID 25123480
Moghadasi Setareh, van Haeringen Arie, Langendonck Lieke and 2 more
Isolation and characterization of microsatellite loci for the blackstripe topminnow Fundulus notatus and their variability in two closely related species.
Journal of fish biology | 2014-11-01 | PMID 25123486
Feldheim K A, Kreiser B R, Schmidt B and 2 more
The switch from fermentation to respiration in Saccharomyces cerevisiae is regulated by the Ert1 transcriptional activator/repressor.
Genetics | 2014-10-01 | PMID 25123508
Gasmi Najla, Jacques Pierre-Etienne, Klimova Natalia and 4 more
Genes: PCK1
Neuroblastoma in a Patient With Spinal Muscular Atrophy Type I: Is It Just a Coincidence?
Journal of child neurology | 2015-07-01 | PMID 25123529
Sag Erdal, Sen Hilal Susam, Haliloglu Goknur and 2 more
Neural tube defects and atypical deletion on 22q11.2.
American journal of medical genetics. Part A | 2014-11-01 | PMID 25123577
Leoni Chiara, Stevenson David A, Geiersbach Katherine B and 4 more
High-resolution crystal structure and IgE recognition of the major grass pollen allergen Phl p 3.
Allergy | 2014-12-01 | PMID 25123586
Devanaboyina S C, Cornelius C, Lupinek C and 7 more
Gender differences in the clinical features of hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations.
Journal of cardiology | 2015-05-01 | PMID 25123604
Terauchi Yasunobu, Kubo Toru, Baba Yuichi and 5 more
Genes: MYBPC3
Multisystemic toxoplasmosis associated with a type II-like Toxoplasma gondii strain in a New Zealand fur seal (Arctocephalus forsteri) from New South Wales, Australia.
Veterinary parasitology | 2014-09-15 | PMID 25123611
Donahoe Shannon L, Rose Karrie, Slapeta Jan
Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy.
Brain & development | 2015-04-01 | PMID 25123644
Tamaura Moe, Shimbo Hiroko, Iai Mizue and 2 more
Circulating Proteomic Signatures of Chronological Age.
The journals of gerontology. Series A, Biological sciences and medical sciences | 2015-07-01 | PMID 25123647
Menni Cristina, Kiddle Steven J, Mangino Massimo and 18 more
Role of somatic cancer mutations in human protein lysine methyltransferases.
Biochimica et biophysica acta | 2014-12-01 | PMID 25123655
Kudithipudi Srikanth, Jeltsch Albert
Genes: SETD2
A high security double lock and key mechanism in HUH relaxases controls oriT-processing for plasmid conjugation.
Nucleic acids research | 2014-01-01 | PMID 25123661
Carballeira José Daniel, González-Pérez Blanca, Moncalián Gabriel and 1 more
Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: clinical evidence of crosslink between FGFR and RAS signaling pathways.
American journal of medical genetics. Part A | 2014-11-01 | PMID 25123707
Takenouchi Toshiki, Sakamoto Yoshiaki, Miwa Tomoru and 5 more
Genes: ERF
EHR Big Data Deep Phenotyping. Contribution of the IMIA Genomic Medicine Working Group.
Yearbook of medical informatics | 2014-08-15 | PMID 25123744
Frey L J, Lenert L, Lopez-Campos G
Risk factors and early origins of chronic obstructive pulmonary disease.
Lancet (London, England) | 2015-03-07 | PMID 25123778
Postma Dirkje S, Bush Andrew, van den Berge Maarten
High incidence of spontaneous cataracts in aging laboratory rabbits of an inbred strain.
Veterinary ophthalmology | 2015-05-01 | PMID 25123814
Peng Xuwen, Roshwalb Sara, Cooper Timothy K and 2 more
Analytic power and sample size calculation for the genotypic transmission/disequilibrium test in case-parent trio studies.
Biometrical journal. Biometrische Zeitschrift | 2014-11-01 | PMID 25123830
Neumann Christoph, Taub Margaret A, Younkin Samuel G and 3 more
Y-chromosome analysis in a Northwest Iberian population: unraveling the impact of Northern African lineages.
American journal of human biology : the official journal of the Human Biology Council | 2000-01-01 | PMID 25123837
Alvarez Luis, Ciria Estela, Marques Sofia L and 2 more
Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome.
American journal of medical genetics. Part A | 2014-11-01 | PMID 25123844
Mooneyham Kathryn Anne, Holden Kenton R, Cathey Sara and 3 more
Genes: DLG4, GABARAP, EFNB3, NLGN2
[Mutant alleles associated to chloroquine and sulfadoxine-pyrimethanime resistance in Plasmodium falciparum of the Ecuador-Peru and Ecuador-Colombia borders].
Revista peruana de medicina experimental y salud publica | 2014-04-01 | PMID 25123867
Arróspide Nancy, Hijar-Guerra Gisely, de Mora Doménica and 4 more
Genes: DHFR, DHPS
HapMuC: somatic mutation calling using heterozygous germ line variants near candidate mutations.
Bioinformatics (Oxford, England) | 2014-12-01 | PMID 25123903
Usuyama Naoto, Shiraishi Yuichi, Sato Yusuke and 5 more
Cordova: web-based management of genetic variation data.
Bioinformatics (Oxford, England) | 2014-12-01 | PMID 25123904
Ephraim Sean S, Anand Nikhil, DeLuca Adam P and 11 more
Genetic architecture of ALS in Sardinia.
Neurobiology of aging | 2014-12-01 | PMID 25123918
Borghero Giuseppe, Pugliatti Maura, Marrosu Francesco and 22 more
Genes: TARDBP, FUS, SOD1
Role of BRAF molecular analysis in the management of papillary thyroid carcinoma: analysis of cytological and histological samples.
Cytopathology : official journal of the British Society for Clinical Cytology | 2015-10-01 | PMID 25123949
Capelli L, Marfisi C, Puccetti M and 8 more
Genes: BRAF
Polycystin-1 and polycystin-2 are involved in the acquisition of aggressive phenotypes in colorectal cancer.
International journal of cancer | 2015-04-01 | PMID 25123959
Gargalionis Antonios N, Korkolopoulou Penelope, Farmaki Elena and 15 more
Molecular profiling in fresh tissue with high tumor cell content promotes enrichment for aggressive adenocarcinomas in cervix.
Pathology, research and practice | 2014-11-01 | PMID 25123963
Halle Mari Kyllesø, Krakstad Camilla, Engerud Hilde and 2 more
Central 22q11.2 deletions.
American journal of medical genetics. Part A | 2014-11-01 | PMID 25123976
Rump Patrick, de Leeuw Nicole, van Essen Anthonie J and 14 more
Genes: TBX1, CRKL, MAPK1
Control of Toll-like receptor-mediated T cell-independent type 1 antibody responses by the inducible nuclear protein IκB-ζ.
The Journal of biological chemistry | 2014-11-07 | PMID 25124037
Hanihara-Tatsuzawa Fumito, Miura Hanae, Kobayashi Shuhei and 4 more
The impact of genetic heterogeneity on biomarker development in kidney cancer assessed by multiregional sampling.
Cancer medicine | 2014-12-01 | PMID 25124064
Sankin Alexander, Hakimi Abraham A, Mikkilineni Nina and 12 more
Genes: BAP1, PBRM1, SETD2, VHL
Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity.
BMC medical genetics | 2014-08-15 | PMID 25124065
Choi Rihwa, Jo Kyoung Il, Ko Dae-Hyun and 8 more
Genes: GALT
Vascular endothelial growth factor A polymorphism and risk of Kaposi's sarcoma herpesvirus viremia in kidney allograft recipients.
Transplant infectious disease : an official journal of the Transplantation Society | 2014-10-01 | PMID 25124076
Alkharsah K R, Alzahrani A J, Obeid O E and 6 more
Genes: VEGFA
Identifying optimal biomarker combinations for treatment selection via a robust kernel method.
Biometrics | 2014-12-01 | PMID 25124089
Huang Ying, Fong Youyi
Complotype affects the extent of down-regulation by Factor I of the C3b feedback cycle in vitro.
Clinical and experimental immunology | 2015-08-01 | PMID 25124117
Lay E, Nutland S, Smith J E and 6 more
A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family.
BMC medical genetics | 2014-08-15 | PMID 25124159
Xia Xin-Yi, Li Na, Cao Xiang and 7 more
Mutations in POLE and survival of colorectal cancer patients--link to disease stage and treatment.
Cancer medicine | 2014-12-01 | PMID 25124163
Stenzinger Albrecht, Pfarr Nicole, Endris Volker and 13 more
Genes: POLE, BRAF, KRAS
Motor and cognitive deficits in aged tau knockout mice in two background strains.
Molecular neurodegeneration | 2014-08-14 | PMID 25124182
Lei Peng, Ayton Scott, Moon Steve and 4 more
Ocular pterygium--digital keloid dysplasia.
American journal of medical genetics. Part A | 2014-11-01 | PMID 25124224
Abarca Hugo, Mellgren Anne E Christensen, Trubnykova Milana and 6 more
The significance of circulating tumour cells in breast cancer: a review.
Breast (Edinburgh, Scotland) | 2014-10-01 | PMID 25124235
Castle J, Shaker H, Morris K and 2 more
A novel variant in GABRB2 associated with intellectual disability and epilepsy.
American journal of medical genetics. Part A | 2014-11-01 | PMID 25124326
Srivastava Siddharth, Cohen Julie, Pevsner Jonathan and 5 more
Genes: GABRB2, GABRA1, GABRA2, GABRA4, GABRA5, GABRA6, GABRB1, GABRB3
Genetics of metabolic syndrome.
Reviews in endocrine & metabolic disorders | 2014-12-01 | PMID 25124343
Stančáková Alena, Laakso Markku
Methylenetetrahydrofolate reductase C667T polymorphism is associated with increased risk of coronary artery disease in a Chinese population.
Scandinavian journal of immunology | 2014-11-01 | PMID 25124382
Chen W, Hua K, Gu H and 2 more
Genes: CAD, MTHFR, CCND1, MIF, TNF
Combining quantitative trait loci analysis with physiological models to predict genotype-specific transpiration rates.
Plant, cell & environment | 2015-04-01 | PMID 25124388
Reuning Gretchen A, Bauerle William L, Mullen Jack L and 1 more
Molecular detection and genotyping of Aphanomyces astaci directly from preserved crayfish samples uncovers the Norwegian crayfish plague disease history.
Veterinary microbiology | 2014-09-17 | PMID 25124447
Vrålstad Trude, Strand David A, Grandjean Frédéric and 5 more
Absence of plastin 1 causes abnormal maintenance of hair cell stereocilia and a moderate form of hearing loss in mice.
Human molecular genetics | 2015-01-01 | PMID 25124451
Taylor Ruth, Bullen Anwen, Johnson Stuart L and 5 more
Genes: PLS1
Microtubules provide directional information for core PCP function.
eLife | 2014-08-14 | PMID 25124458
Matis Maja, Russler-Germain David A, Hu Qie and 2 more
Association study of ERβ, AR, and CYP19A1 genes and MtF transsexualism.
The journal of sexual medicine | 2014-12-01 | PMID 25124466
Fernández Rosa, Esteva Isabel, Gómez-Gil Esther and 6 more
Integrating genetic, transcriptional, and functional analyses to identify 5 novel genes for atrial fibrillation.
Circulation | 2014-10-07 | PMID 25124494
Sinner Moritz F, Tucker Nathan R, Lunetta Kathryn L and 52 more
Genes: CAND2, GJA1, TBX5, CUX2
Identification of differential selection traces in two Polish cattle breeds.
Animal science journal = Nihon chikusan Gakkaiho | 2015-01-01 | PMID 25124517
Gurgul Artur, Pawlina Klaudia, Frys-Żurek Monika and 1 more
Identification of a novel COL2A1 mutation (c.1744G>A) in a Japanese family: a case report.
Journal of medical case reports | 2014-08-14 | PMID 25124518
Kishiya Masaki, Nakamura Yoshihide, Ohishi Hirotaka and 2 more
Replication of previous genome-wide association studies of psychiatric diseases in a large schizophrenia case-control sample from Spain.
Schizophrenia research | 2014-10-01 | PMID 25124521
Ivorra José Luis, Rivero Olga, Costas Javier and 25 more
Genes: NRXN1
IFN-gamma and TNF associated with severe falciparum malaria infection in Saudi pregnant women.
Malaria journal | 2014-08-13 | PMID 25124540
Nasr Amre, Allam Gamal, Hamid Osama and 1 more
Genes: TNF
Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy.
American journal of medical genetics. Part A | 2014-11-01 | PMID 25124546
Andrade Raissa Coelho, Nevado Julián, de Faria Domingues de Lima Maria Angélica and 5 more
Genes: LAMA2
Upregulation of STK15 in esophageal squamous cell carcinomas in a Mongolian population.
Asian Pacific journal of cancer prevention : APJCP | 2014-01-01 | PMID 25124567
Chen Guang-Lie, Hou Gai-Ling, Sun Fei and 6 more
Parathyroid hormone gene rs6256 and calcium sensing receptor gene rs1801725 variants are not associated with susceptibility to colorectal cancer in Iran.
Asian Pacific journal of cancer prevention : APJCP | 2014-01-01 | PMID 25124570
Mahmoudi Touraj, Karimi Khatoon, Arkani Maral and 5 more
Genes: PTH
Association of Rs11615 (C>T) in the excision repair cross-complementing group 1 gene with ovarian but not gynecological cancer susceptibility: a meta-analysis.
Asian Pacific journal of cancer prevention : APJCP | 2014-01-01 | PMID 25124575
Ma Yong-Jun, Feng Sheng-Chun, Hu Shao-Long and 2 more
Genes: ERCC1
Lack of any association of GST genetic polymorphisms with susceptibility to ovarian cancer--a meta-analysis.
Asian Pacific journal of cancer prevention : APJCP | 2014-01-01 | PMID 25124586
Han Li-Yuan, Liu Kui, Lin Xia-Lu and 2 more
Genes: GSTM1, GSTP1, GSTT1
Prevalence and genotype distribution of HPV among women attending a cervical cancer screening mobile unit in Lampang, Thailand.
Asian Pacific journal of cancer prevention : APJCP | 2014-01-01 | PMID 25124589
Paengchit Kannika, Kietpeerakool Chumnan, Lalitwongsa Somkiet
Lack of associations of the COMT Val158Met polymorphism with risk of endometrial and ovarian cancer: a pooled analysis of case-control studies.
Asian Pacific journal of cancer prevention : APJCP | 2014-01-01 | PMID 25124595
Liu Jin-Xin, Luo Rong-Cheng, Li Rong and 4 more
Genes: COMT
The MMP-2 -735 C allele is a risk factor for susceptibility to breast cancer.
Asian Pacific journal of cancer prevention : APJCP | 2014-01-01 | PMID 25124598
Yari Kheirollah, Rahimi Ziba, Moradi Mohamad Taher and 1 more
Associations between AT-rich interactive domain 5B gene polymorphisms and risk of childhood acute lymphoblastic leukemia: a meta-analysis.
Asian Pacific journal of cancer prevention : APJCP | 2014-01-01 | PMID 25124600
Zeng Hui, Wang Xue-Bin, Cui Ning-Hua and 3 more
Development of in-house multiplex real time PCR for human papillomavirus genotyping in Iranian women with cervical cancer and cervical intraepithelial neoplasia.
Asian Pacific journal of cancer prevention : APJCP | 2014-01-01 | PMID 25124608
Sohrabi Amir, Mirab-Samiee Siamak, Modarresi Mohammad Hossein and 3 more
Lack of association between the MTHFRC677T polymorphism and lung cancer in a Turkish population.
Asian Pacific journal of cancer prevention : APJCP | 2014-01-01 | PMID 25124620
Yilmaz Meral, Kacan Turgut, Sari Ismail and 1 more
Genes: MTHFR
Epistasis effects of COMT and MTHFR on inter-individual differences in mental health: under the inverted U-shaped prefrontal dopamine model.
Biochemical and biophysical research communications | 2014-09-05 | PMID 25124664
Htun Nay Chi, Miyaki Koichi, Zhao Chenxi and 2 more
Genes: MTHFR, COMT
Considerations when investigating lncRNA function in vivo.
eLife | 2014-08-14 | PMID 25124674
Bassett Andrew R, Akhtar Asifa, Barlow Denise P and 10 more
Prolongation of overall survival in advanced lung adenocarcinoma patients with the XAGE1 (GAGED2a) antibody.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2014-10-01 | PMID 25124687
Ohue Yoshihiro, Kurose Koji, Mizote Yu and 7 more
Genes: EGFR
Recent insights into genotype-phenotype relationships in patients with Rett syndrome using a fine grain scale.
Research in developmental disabilities | 2014-11-01 | PMID 25124696
Fabio Rosa Angela, Colombo Barbara, Russo Silvia and 5 more
Genes: MECP2, TRD
SLC19A1, SLC46A1 and SLCO1B1 polymorphisms as predictors of methotrexate-related toxicity in Portuguese rheumatoid arthritis patients.
Toxicological sciences : an official journal of the Society of Toxicology | 2014-11-01 | PMID 25124723
Lima Aurea, Bernardes Miguel, Azevedo Rita and 4 more
Identification of loci associated with late-onset psoriasis using dense genotyping of immune-related regions.
The British journal of dermatology | 2015-04-01 | PMID 25124732
Hébert H L, Bowes J, Smith Rh Ll and 8 more
Genes: IFIH1
Assessment of 5-fluorouracil and 4-nitroquinoline-1-oxide in vivo genotoxicity with Pig-a mutation and micronucleus endpoints.
Environmental and molecular mutagenesis | 2014-12-01 | PMID 25124805
Zhou Changhui, Zhang Min, Huang Pengcheng and 5 more
Genes: RET
Multiple populations of pantropical spotted dolphins in Hawaiian waters.
The Journal of heredity | 2000-01-01 | PMID 25124812
Courbis Sarah, Baird Robin W, Cipriano Frank and 1 more
Contrasting levels of clonal and within-population genetic diversity between the 2 ecologically different herbs Polygonatum stenophyllum and Polygonatum inflatum (Liliaceae).
The Journal of heredity | 2000-01-01 | PMID 25124813
Chung Mi Yoon, López-Pujol Jordi, Chung Jae Min and 2 more
Genes: FST
Genetic and ecological studies of animals in Chernobyl and Fukushima.
The Journal of heredity | 2000-01-01 | PMID 25124815
Mousseau Timothy A, Møller Anders P
Fukushima's biological impacts: the case of the pale grass blue butterfly.
The Journal of heredity | 2000-01-01 | PMID 25124816
Taira Wataru, Nohara Chiyo, Hiyama Atsuki and 1 more
Pachyonychia congenita cornered: report on the 11th Annual International Pachyonychia Congenita Consortium Meeting.
The British journal of dermatology | 2014-11-01 | PMID 25124823
O'Toole E A, Kaspar R L, Sprecher E and 2 more
Facial palsy in Melkersson-Rosenthal syndrome and Bell's palsy: familial history and recurrence tendency.
The Annals of otology, rhinology, and laryngology | 2015-02-01 | PMID 25124841
Sun Baochun, Zhou Chengyong, Han Zeli
Expression quantitative trait loci infer the regulation of isoflavone accumulation in soybean (Glycine max L. Merr.) seed.
BMC genomics | 2014-08-13 | PMID 25124843
Wang Yan, Han Yingpeng, Teng Weili and 5 more
SABRE is required for stabilization of root hair patterning in Arabidopsis thaliana.
Physiologia plantarum | 2015-03-01 | PMID 25124848
Pietra Stefano, Lang Patricia, Grebe Markus
Association of gene variants of the renin-angiotensin system with accelerated hippocampal volume loss and cognitive decline in old age.
The American journal of psychiatry | 2014-11-01 | PMID 25124854
Zannas Anthony S, McQuoid Douglas R, Payne Martha E and 5 more
Genes: AGTR1, APOE
Unusually severe hypophosphatemic rickets caused by a novel and complex re-arrangement of the PHEX gene.
American journal of medical genetics. Part A | 2014-11-01 | PMID 25124877
Pekkarinen Tuula, Lorenz-Depiereux Bettina, Lohman Martina and 1 more
Genes: PHEX
Domestic incense burning and nasopharyngeal carcinoma: a case-control study in Hong Kong Chinese.
Environmental and molecular mutagenesis | 2014-12-01 | PMID 25124928
Xie Shao-Hua, Yu Ignatius Tak-sun, Tse Lap Ah and 4 more
Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
JAMA ophthalmology | 2014-12-01 | PMID 25124931
Robitaille Johane M, Gillett Roxanne M, LeBlanc Marissa A and 18 more
Genes: KIF11
Involvement of IL-6 and IL-1 receptor antagonist on intellectual disability.
Immunology letters | 2014-11-01 | PMID 25124963
Aureli A, Sebastiani P, Del Beato T and 4 more
QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.
World journal of pediatrics : WJP | 2014-08-01 | PMID 25124972
Lu De-Yun, Ye Jun, Han Lian-Shu and 6 more
Genes: QDPR
Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease.
World journal of pediatrics : WJP | 2014-08-01 | PMID 25124979
Liu Shu-Ping, Ding Jie, Wang Fang and 2 more
Genes: PKHD1
A novel CLCN5 mutation in a Chinese boy with Dent's disease.
World journal of pediatrics : WJP | 2014-08-01 | PMID 25124980
Ji Li-Na, Chen Chao-Ying, Wang Jing-Jing and 1 more
Genes: CLCN5