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 6094 of 10600

Differential cytokine, chemokine and growth factor expression in phenotypes of chronic lung allograft dysfunction.
Transplantation | 2015-01-01 | PMID 25050473
Verleden Stijn E, Ruttens David, Vos Robin and 8 more
Genes: CXCL10, MIP, CXCL8, CCL2, CCL3, CCL4
Study of Polymorphisms in CX3CR1, PLEKHA1 and VEGF genes as risk factors for age-related macular degeneration in Indian patients.
Archives of medical research | 2014-08-01 | PMID 25050486
Gupta Divya, Gupta Vani, Singh Vinita and 4 more
Genes: PLEKHA1
A systematic evaluation of short tandem repeats in lipid candidate genes: riding on the SNP-wave.
PloS one | 2014-01-01 | PMID 25050552
Lamina Claudia, Haun Margot, Coassin Stefan and 9 more
Genes: BUD13, ABCG5, APOA1, CETP, LDLR, LPL
Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers.
Cancer discovery | 2014-07-01 | PMID 25050558
Park Daniel J, Tao Kayoko, Le Calvez-Kelm Florence and 34 more
Genes: RINT1
KRAS and BRAF mutations and MSI status in precursor lesions of colorectal cancer detected by colonoscopy.
Oncology reports | 2014-10-01 | PMID 25050586
Yamane L S, Scapulatempo-Neto C, Alvarenga L and 10 more
Genes: BRAF, KRAS
Suppressing AP1 factor signaling in the suprabasal epidermis produces a keratoderma phenotype.
The Journal of investigative dermatology | 2015-01-01 | PMID 25050598
Rorke Ellen A, Adhikary Gautam, Young Christina A and 2 more
Molecular epidemiology of tuberculosis in Cambodian children.
Epidemiology and infection | 2015-04-01 | PMID 25050615
Schopfer K, Rieder H L, Steinlin-Schopfer J F and 7 more
Functional effect of polymorphisms in the promoter of TNFAIP3 (A20) in acute pancreatitis in the Han Chinese population.
PloS one | 2014-01-01 | PMID 25050625
Liu Yugang, Dan Gang, Wu Lijuan and 4 more
Genes: TNFAIP3, TNF
Age-related differences in bitter taste and efficacy of bitter blockers.
PloS one | 2014-01-01 | PMID 25050705
Mennella Julie A, Reed Danielle R, Roberts Kristi M and 2 more
fcGENE: a versatile tool for processing and transforming SNP datasets.
PloS one | 2014-01-01 | PMID 25050709
Roshyara Nab Raj, Scholz Markus
Multiscale, hierarchically patterned topography for directing human neural stem cells into functional neurons.
ACS nano | 2014-08-26 | PMID 25050736
Yang Kisuk, Jung Hyunjung, Lee Hak-Rae and 7 more
Genes: NPS
Effects of β2-adrenergic receptor gene polymorphisms on ritodrine therapy in pregnant women with preterm labor: prospective follow-up study.
International journal of molecular sciences | 2014-07-21 | PMID 25050782
Park Jin Young, Lee Na Ra, Lee Kyung Eun and 3 more
Genes: ADRB2
HMGB1 gene polymorphism is associated with hypertension in Han Chinese population.
Clinical and experimental hypertension (New York, N.Y. : 1993) | 2015-01-01 | PMID 25050807
Yao Yingshui, Guo Daoxia, Yang Song and 7 more
Genes: HMGB1, TLR4, AGER, DBP
An approach to identify SNPs in the gene encoding acetyl-CoA acetyltransferase-2 (ACAT-2) and their proposed role in metabolic processes in pig.
PloS one | 2014-01-01 | PMID 25050817
Sodhi Simrinder Singh, Ghosh Mrinmoy, Song Ki Duk and 7 more
Genes: ACAT2, ACAA2
FCGR3A 158V/F polymorphism and response to frontline R-CHOP therapy in diffuse large B-cell lymphoma.
DNA and cell biology | 2014-09-01 | PMID 25050883
Liu Fen, Ding Huirong, Jin Xuan and 5 more
Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.
The Journal of clinical endocrinology and metabolism | 2014-11-01 | PMID 25050900
Rajagopal Abbhirami, Braslavsky Débora, Lu James T and 10 more
Genes: PTH
FMR1 premutation is an uncommon explanation for premature ovarian failure in Han Chinese.
PloS one | 2014-01-01 | PMID 25050920
Guo Ting, Qin Yingying, Jiao Xue and 3 more
Genes: FMR1
The role of T cells in systemic lupus erythematosus: an update.
Current opinion in rheumatology | 2014-09-01 | PMID 25050923
Konya Christine, Paz Ziv, Tsokos George C
Phylogeography of Cuban Rivulus: evidence for allopatric speciation and secondary dispersal across a marine barrier.
Molecular phylogenetics and evolution | 2014-10-01 | PMID 25050928
Ponce de León José Luis, León Gunnary, Rodríguez Rodet and 4 more
Abnormal cerebellar development and Purkinje cell defects in Lgl1-Pax2 conditional knockout mice.
Developmental biology | 2014-11-01 | PMID 25050931
Hou Congzhe, Ding Lingcui, Zhang Jian and 8 more
High density LD-based structural variations analysis in cattle genome.
PloS one | 2014-01-01 | PMID 25050984
Salomon-Torres Ricardo, Matukumalli Lakshmi K, Van Tassell Curtis P and 3 more
The association between family history of mental disorders and general cognitive ability.
Translational psychiatry | 2014-07-22 | PMID 25050992
McGrath J J, Wray N R, Pedersen C B and 3 more
Correlations of MTHFR 677C>T polymorphism with cardiovascular disease in patients with end-stage renal disease: a meta-analysis.
PloS one | 2014-01-01 | PMID 25050994
Gao Xian-Hui, Zhang Guo-Yi, Wang Ying and 1 more
Genes: MTHFR
Diaporine, a novel endophyte-derived regulator of macrophage differentiation.
Organic & biomolecular chemistry | 2014-09-14 | PMID 25051017
Wu Hao Chen, Ge Hui Ming, Zang Le Yun and 8 more
Genes: TLR4
CYP3A4*22 and CYP3A5*3 are associated with increased levels of plasma simvastatin concentrations in the cholesterol and pharmacogenetics study cohort.
Pharmacogenetics and genomics | 2014-10-01 | PMID 25051018
Kitzmiller Joseph P, Luzum Jasmine A, Baldassarre Damiano and 2 more
Four SNPs in the CHRNA3/5 alpha-neuronal nicotinic acetylcholine receptor subunit locus are associated with COPD risk based on meta-analyses.
PloS one | 2014-01-01 | PMID 25051068
Cui Kai, Ge Xiaoyan, Ma Honglin
Genes: CHRNA3
Dualsteric muscarinic antagonists--orthosteric binding pose controls allosteric subtype selectivity.
Journal of medicinal chemistry | 2014-08-14 | PMID 25051097
Schmitz Jens, van der Mey Dorina, Bermudez Marcel and 7 more
SCN5A mutations and polymorphisms in patients with ventricular fibrillation during acute myocardial infarction.
Molecular medicine reports | 2014-10-01 | PMID 25051102
Boehringer Tim, Bugert Peter, Borggrefe Martin and 1 more
De novo congenital melanoma: analysis of 2 cases with array comparative genomic hybridization.
The American Journal of dermatopathology | 2014-11-01 | PMID 25051103
Su Albert, Low Lawrence, Li Xinmin and 3 more
Lomitapide for the management of homozygous familial hypercholesterolemia.
Reviews in cardiovascular medicine | 2014-01-01 | PMID 25051128
deGoma Emil M
Functional evaluation of key interactions evident in the structure of the eukaryotic Cys-loop receptor GluCl.
ACS chemical biology | 2014-10-17 | PMID 25051140
Daeffler Kristina N-M, Lester Henry A, Dougherty Dennis A
Nucleotide excision repair gene ERCC1 19007T>C polymorphism contributes to lung cancer susceptibility: a meta-analysis.
Genetic testing and molecular biomarkers | 2014-08-01 | PMID 25051148
Xie Fuyi, Sun Qi, Wu Shengjun and 2 more
Genes: ERCC1
Selection mosaic exerted by specialist and generalist herbivores on chemical and physical defense of Datura stramonium.
PloS one | 2014-01-01 | PMID 25051169
Castillo Guillermo, Cruz Laura L, Tapia-López Rosalinda and 8 more
Multiple EphB receptors mediate dorsal-ventral retinotopic mapping via similar bi-functional responses to ephrin-B1.
Molecular and cellular neurosciences | 2014-11-01 | PMID 25051176
McLaughlin Todd, Lim Yoo-Shick, Santiago Alicia and 1 more
BRAF V600 mutations and pathological features in Japanese melanoma patients.
Melanoma research | 2015-02-01 | PMID 25051202
Yamazaki Naoya, Tanaka Ryota, Tsutsumida Arata and 8 more
Genes: BRAF
Physical-capacity-related genetic polymorphisms in children with cystic fibrosis.
Pediatric exercise science | 2015-02-01 | PMID 25051205
Yvert Thomas, Santiago Catalina, Santana-Sosa Elena and 6 more
Genes: NOS3, ACE, ACSL1, ACTN3, AGT, MSTN, NRF1, PPARD
Delivery of treatment for hepatitis C virus infection in the primary care setting.
European journal of gastroenterology & hepatology | 2014-09-01 | PMID 25051216
Baker David, Alavi Maryam, Erratt Amanda and 11 more
Exploring iris colour prediction and ancestry inference in admixed populations of South America.
Forensic science international. Genetics | 2014-11-01 | PMID 25051225
Freire-Aradas A, Ruiz Y, Phillips C and 11 more
Schlemm's canal is a unique vessel with a combination of blood vascular and lymphatic phenotypes that forms by a novel developmental process.
PLoS biology | 2014-07-01 | PMID 25051267
Kizhatil Krishnakumar, Ryan Margaret, Marchant Jeffrey K and 2 more
Genes: KDR
Human plasma lipid modulation in schistosomiasis mansoni depends on apolipoprotein E polymorphism.
PloS one | 2014-01-01 | PMID 25051269
Martins da Fonseca Caíque Silveira, Pimenta Filho Adenor Almeida, dos Santos Bianka Santana and 4 more
Genes: APOE
Epistasis between polymorphisms in ACVR2B and ADAMTS19 is associated with premature ovarian failure.
Menopause (New York, N.Y.) | 2015-02-01 | PMID 25051287
Pyun Jung-A, Kim Sunshin, Kwack KyuBum
Genes: ADAMTS19
Influence of mutation type on prognostic and predictive values of TP53 status in primary breast cancer patients.
Oncology reports | 2014-10-01 | PMID 25051299
Dobes Petr, Podhorec Jan, Coufal Oldrich and 4 more
Indoor air pollution and neural tube defects: effect modification by maternal genes.
Epidemiology (Cambridge, Mass.) | 2014-09-01 | PMID 25051309
Wang Linlin, Li Zhiwen, Jin Lei and 6 more
Genes: AHR
Attributing effects to interactions.
Epidemiology (Cambridge, Mass.) | 2014-09-01 | PMID 25051310
VanderWeele Tyler J, Tchetgen Tchetgen Eric J
Interplay between genetic and clinical variables affecting platelet reactivity and cardiac adverse events in patients undergoing percutaneous coronary intervention.
PloS one | 2014-01-01 | PMID 25051347
Siller-Matula Jolanta M, Lang Irene M, Neunteufl Thomas and 6 more
Genes: ABCB1, PON1
Thrombospondin 1 promotes an aggressive phenotype through epithelial-to-mesenchymal transition in human melanoma.
Oncotarget | 2014-07-30 | PMID 25051363
Jayachandran Aparna, Anaka Matthew, Prithviraj Prashanth and 7 more
Genes: THBS1
Macrophages are recruited to hypoxic tumor areas and acquire a pro-angiogenic M2-polarized phenotype via hypoxic cancer cell derived cytokines Oncostatin M and Eotaxin.
Oncotarget | 2014-07-30 | PMID 25051364
Tripathi Chakrapani, Tewari Brij Nath, Kanchan Ranjana Kumari and 6 more
Chronic treatment with cisplatin induces replication-dependent sister chromatid recombination to confer cisplatin-resistant phenotype in nasopharyngeal carcinoma.
Oncotarget | 2014-08-15 | PMID 25051366
Su Wen-Pin, Hsu Sen-Huei, Wu Cheng-Kuei and 10 more
Genes: BRCA1, FANCD2
Genome-wide DNA methylation and gene expression patterns provide insight into polycystic ovary syndrome development.
Oncotarget | 2014-08-30 | PMID 25051372
Wang Xiu-Xia, Wei Jing-Zan, Jiao Jiao and 3 more
Verification of wild-type EGFR status in non-small cell lung carcinomas using a mutant-enriched PCR on selected cases.
The Journal of molecular diagnostics : JMD | 2014-09-01 | PMID 25051378
Chen Yi-Lin, Lu Cheng-Chan, Yang Shu-Ching and 7 more
Genes: EGFR
Unique volatolomic signatures of TP53 and KRAS in lung cells.
British journal of cancer | 2014-09-09 | PMID 25051409
Davies M P A, Barash O, Jeries R and 6 more
Genes: KRAS
WWOX modulates the gene expression profile in the T98G glioblastoma cell line rendering its phenotype less malignant.
Oncology reports | 2014-10-01 | PMID 25051421
Kośla Katarzyna, Nowakowska Magdalena, Pospiech Karolina and 1 more
Genes: WWOX
A role for Na+,K+-ATPase α1 in regulating Rab27a localisation on melanosomes.
PloS one | 2014-01-01 | PMID 25051489
Booth Antonia E G, Tarafder Abul K, Hume Alistair N and 2 more
Association of IL-27 polymorphisms and cancer risk in Chinese population.
Journal of receptor and signal transduction research | 2015-04-01 | PMID 25051492
Hu Tiemin, Zhao Hongyu, Wang Kunpeng and 3 more
Association of monocyte chemoattractant protein-1 2518G/A gene polymorphism with diabetic nephropathy risk.
Journal of receptor and signal transduction research | 2015-02-01 | PMID 25051493
Su Ning, Li Hong-Yan, Huang Miao-Fang and 2 more
Association of vitamin D receptor BsmI (rs1544410), Fok1 (rs2228570), TaqI (rs731236) and ApaI (rs7975232) gene polymorphism with the nephrolithiasis susceptibility.
Journal of receptor and signal transduction research | 2015-04-01 | PMID 25051494
Zhou Tian-Biao, Jiang Zong-Pei, Li Ai-Hua and 1 more
Genes: VDR
Caenorhabditis elegans segmentation using texture-based models for motility phenotyping.
IEEE transactions on bio-medical engineering | 2014-08-01 | PMID 25051545
Greenblum Ayala, Sznitman Raphael, Fua Pascal and 2 more
[Genotype-phenotype characteristics of biochemical markers of endothelial dysfunction in patients with chronic mercury intoxication].
Meditsina truda i promyshlennaia ekologiia | 2014-01-01 | PMID 25051669
Popkova O V, Kudaeva I V, Masnavieva L B and 1 more
Genes: EDN1, NOS3
[Comparative resistance of typical and genetically altered Vibrio cholerae biovar El Tor strains to the effect of unfavorable environmental factors].
Zhurnal mikrobiologii, epidemiologii i immunobiologii | 2000-01-01 | PMID 25051691
Zadnova S P, Agafonov D A, Shashkova A V and 1 more
[Algorithm of toxigenic genetically altered Vibrio cholerae El Tor biovar strain identification].
Zhurnal mikrobiologii, epidemiologii i immunobiologii | 2000-01-01 | PMID 25051695
Smirnova N I, Agafonov D A, Zadnova S P and 2 more
[VNTR-genotyping of Vibrio cholerae strains isolated from objects in the territory of Russian Federation in 2012].
Zhurnal mikrobiologii, epidemiologii i immunobiologii | 2000-01-01 | PMID 25051696
Vodop'ianov A S, Mazrukho A B, Vodop'ianov S O and 7 more
[Epidemic variants of norovirus genotype GII.4 in Nizhny Novgorod in 2006 - 2012].
Zhurnal mikrobiologii, epidemiologii i immunobiologii | 2000-01-01 | PMID 25051699
Epifanova N V, Lukovnikova L B, Novikova N A and 2 more
[Proteome mass-spectrometric analysis and typing of Vibrio cholerae strains isolated in the territory of Russian Federation in 2010 - 2012].
Zhurnal mikrobiologii, epidemiologii i immunobiologii | 2000-01-01 | PMID 25051705
Telesmanich N R, Agafonova V V, Chemisova O S and 4 more
[Action of antibiotics as signalling molecules].
Antibiotiki i khimioterapiia = Antibiotics and chemoterapy [sic] | 2014-01-01 | PMID 25051715
Bulgakova V G, Vinogradova K A, Orlova T I and 2 more
[Association of the ABCB1 gene with risk for uveal melanoma].
Arkhiv patologii | 2000-01-01 | PMID 25051717
Saakian S V, Amirian A G, Tsygankov A Iu and 2 more
Genes: ABCB1
[Modern approaches to the primary prevention of the development of psychoactive substance dependence on the base of accounting of environmental and genetic risk factors].
Gigiena i sanitariia | 2000-01-01 | PMID 25051744
Demin A A, Aksenova M G, Sinitsyna O O and 2 more
Genes: DRD2, DRD4
[Genotoxicity evaluation of nanoparticles].
Gigiena i sanitariia | 2000-01-01 | PMID 25051747
Durnev A D
Expression of γ-tocopherol methyltransferase in chloroplasts results in massive proliferation of the inner envelope membrane and decreases susceptibility to salt and metal-induced oxidative stresses by reducing reactive oxygen species.
Plant biotechnology journal | 2014-12-01 | PMID 25051898
Jin Shuangxia, Daniell Henry
N-acetyltransferase 2 status and gastric cancer risk: a meta-analysis.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine | 2014-07-01 | PMID 25051916
Yu Jian, Deng Yue, Chen Jian-Ping
Genes: NAT2
Correlations of IFN-γ genetic polymorphisms with susceptibility to breast cancer: a meta-analysis.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine | 2014-07-01 | PMID 25051917
Li Chun-Jiang, Dai Yue, Fu Yan-Jun and 5 more
Estimation of vascular endothelial growth factor gene -460 C/T polymorphism as a biomarker in oral squamous cell carcinoma patients from the Indian subcontinent.
Journal of investigative and clinical dentistry | 2015-11-01 | PMID 25051952
Borase Archana P, Ganvir Sindhu M, Hazarey Vinay K and 3 more
A calcineurin- and NFAT-dependent pathway is involved in α-synuclein-induced degeneration of midbrain dopaminergic neurons.
Human molecular genetics | 2014-12-15 | PMID 25051958
Luo Jing, Sun Lixin, Lin Xian and 6 more
MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene.
Journal of child neurology | 2015-07-01 | PMID 25051967
Dweikat Imad M, Abdelrazeq Samer, Ayesh Suhail and 1 more
Genes: SERAC1
Gene cloning and biochemical characterization of eryngase, a serine aminopeptidase of Pleurotus eryngii belonging to the family S9 peptidases.
Bioscience, biotechnology, and biochemistry | 2014-01-01 | PMID 25051988
Arima Jiro, Tokai Shota, Chiba Masanori and 4 more
Clinical implications of interferon-γ genetic and epigenetic variants.
Immunology | 2014-12-01 | PMID 25052001
Smith Nicola L D, Denning David W
Assessing Symbiodinium diversity in scleractinian corals via next-generation sequencing-based genotyping of the ITS2 rDNA region.
Molecular ecology | 2014-09-01 | PMID 25052021
Arif Chatchanit, Daniels Camille, Bayer Till and 5 more
Systematic permutation testing in GWAS pathway analyses: identification of genetic networks in dilated cardiomyopathy and ulcerative colitis.
BMC genomics | 2014-07-22 | PMID 25052024
Backes Christina, Rühle Frank, Stoll Monika and 12 more
The genomic and seroprevalence of human bocavirus in healthy Chinese plasma donors and plasma derivatives.
Transfusion | 2015-01-01 | PMID 25052026
Li Hongxue, He Miao, Zeng Peibin and 4 more
Next generation sequencing and the future of genetic diagnosis.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics | 2014-10-01 | PMID 25052068
Lohmann Katja, Klein Christine
A nonsense mutation in PLD4 is associated with a zinc deficiency-like syndrome in Fleckvieh cattle.
BMC genomics | 2014-07-22 | PMID 25052073
Jung Simone, Pausch Hubert, Langenmayer Martin C and 4 more
Genes: PLD4, CRIP1, CRIP2
Modulation of amylose content by structure-based modification of OsGBSS1 activity in rice (Oryza sativa L.).
Plant biotechnology journal | 2014-12-01 | PMID 25052102
Liu Derui, Wang Wei, Cai Xiuling
[Distribution of hepatitis C virus genotypes among patients with chronic hepatitis C infection in Akdeniz University Hospital, Antalya, Turkey: a five-year evaluation].
Mikrobiyoloji bulteni | 2014-07-01 | PMID 25052109
Sağlik İmran, Mutlu Derya, Öngut Gözde and 6 more
Genes: LIPA
[Macrolide-lincosamide-streptogramin B (MLSB) resistance phenotypes in clinical Staphylococcus isolates and investigation of telithromycin activity].
Mikrobiyoloji bulteni | 2014-07-01 | PMID 25052113
Uzun Berrin, Güngör Serdar, Pektaş Bayram and 4 more
[Investigation of hepatitis C virus genotype distribution in patients with chronic hepatitis C infections in Antalya Training and Research Hospital, Turkey].
Mikrobiyoloji bulteni | 2014-07-01 | PMID 25052115
Çekın Yeşim, Gür Nilgün, Çekın Ayhan Hilmi and 2 more
A host as an ecosystem: Wolbachia coping with environmental constraints.
Environmental microbiology | 2014-12-01 | PMID 25052143
Sicard Mathieu, Dittmer Jessica, Grève Pierre and 2 more
Redesigning the exploitation of wheat genetic resources.
Trends in plant science | 2014-10-01 | PMID 25052155
Longin C Friedrich H, Reif Jochen C
Pattern of genetic variation of yellow catfish Pelteobagrus fulvidraco Richardso in Huaihe river and the Yangtze river revealed using mitochondrial DNA control region sequences.
Molecular biology reports | 2014-09-01 | PMID 25052185
Xiao Mingsong, Bao Fangyin, Cui Feng
Genes: FST
Combined effects of the BDNF rs6265 (Val66Met) polymorphism and environment risk factors on psoriasis vulgaris.
Molecular biology reports | 2014-10-01 | PMID 25052186
Quan Cheng, Zhu Kun-Ju, Zhang Chi and 6 more
Genes: BDNF
Biomarker-based treatment selection in early-stage rectal cancer to promote organ preservation.
The British journal of surgery | 2014-09-01 | PMID 25052224
Leong K J, Beggs A, James J and 3 more
Genes: RARB, CHFR, CXCL12, DAPK1, KRAS
Evidence for weak genetic recombination at the PTP2 locus of Nosema ceranae.
Environmental microbiology | 2015-04-01 | PMID 25052231
Gómez-Moracho Tamara, Bartolomé Carolina, Martín-Hernández Raquel and 2 more
An update of the goat genome assembly using dense radiation hybrid maps allows detailed analysis of evolutionary rearrangements in Bovidae.
BMC genomics | 2014-07-23 | PMID 25052253
Du Xiaoyong, Servin Bertrand, Womack James E and 5 more
[Gene geography of Chile: regional distribution of American, European and African genetic contributions].
Revista medica de Chile | 2014-03-01 | PMID 25052264
Fuentes Macarena, Pulgar Iván, Gallo Carla and 6 more
[Association between genetic polymorphisms of interleukin 6 (IL6), IL6R and IL18 with metabolic syndrome in obese Chilean children].
Revista medica de Chile | 2014-03-01 | PMID 25052265
Suazo José, Smalley Susan Valerie, Hodgson María Isabel and 3 more
The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome.
European journal of human genetics : EJHG | 2015-05-01 | PMID 25052309
Busch Alexander S, Tüttelmann Frank, Zitzmann Michael and 2 more
Genes: FSHB, FSHR
Evaluation of European coeliac disease risk variants in a north Indian population.
European journal of human genetics : EJHG | 2015-04-01 | PMID 25052311
Senapati Sabyasachi, Gutierrez-Achury Javier, Sood Ajit and 9 more
Genes: PFKFB3, PRKCQ, FASLG, ICOSLG, PTPRK, SCHIP1, THEMIS, TNFSF18
Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy.
European journal of human genetics : EJHG | 2015-04-01 | PMID 25052312
Shaikh Rehan S, Reuter Peggy, Sisk Robert A and 8 more
Genes: CNGA3, CNGB3
Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1.
European journal of human genetics : EJHG | 2015-05-01 | PMID 25052313
Morales Fernando, Vásquez Melissa, Cuenca Patricia and 6 more
Functional correction by antisense therapy of a splicing mutation in the GALT gene.
European journal of human genetics : EJHG | 2015-04-01 | PMID 25052314
Coelho Ana I, Lourenço Sílvia, Trabuco Matilde and 7 more
Genes: GALT
EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.
European journal of human genetics : EJHG | 2015-04-01 | PMID 25052315
Traeger-Synodinos Joanne, Harteveld Cornelis L, Old John M and 7 more
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
European journal of human genetics : EJHG | 2015-03-01 | PMID 25052316
Verloes Alain, Di Donato Nataliya, Masliah-Planchon Julien and 49 more
Genes: ACTB, ACTG1