Quantitative dissection of variations in root growth rate: a matter of cell proliferation or of cell expansion?
Journal of experimental botany | 2018-10-12 | PMID 30053124
Youssef Chvan, Bizet François, Bastien Renaud and 3 more
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 7852 of 10600
Subtype-specific signaling pathways and genomic aberrations associated with prognosis of glioblastoma.
Neuro-oncology | 2019-01-01 | PMID 30053126
Park Ae Kyung, Kim Pora, Ballester Leomar Y and 2 more
Genes: MET, PCLO
miR-122, small RNA annealing and sequence mutations alter the predicted structure of the Hepatitis C virus 5' UTR RNA to stabilize and promote viral RNA accumulation.
Nucleic acids research | 2018-10-12 | PMID 30053137
Amador-Cañizares Yalena, Panigrahi Mamata, Huys Adam and 4 more
mutTCPdb: a comprehensive database for genomic variants of a tropical country neglected disease-tropical calcific pancreatitis.
Database : the journal of biological databases and curation | 2018-01-01 | PMID 30053238
Singh Garima, Bhat Basharat, Jayadev M S K and 2 more
Human Papillomavirus Genotypes Predict Progression of Anal Low-Grade Squamous Intraepithelial Lesions.
The Journal of infectious diseases | 2018-10-20 | PMID 30053247
Liu Yuxin, Sigel Keith, Gaisa Michael M
BioMuta and BioXpress: mutation and expression knowledgebases for cancer biomarker discovery.
Nucleic acids research | 2018-01-04 | PMID 30053270
Dingerdissen Hayley M, Torcivia-Rodriguez John, Hu Yu and 3 more
Lewy Body Pathology and Chronic Traumatic Encephalopathy Associated With Contact Sports.
Journal of neuropathology and experimental neurology | 2018-09-01 | PMID 30053297
Adams Jason W, Alvarez Victor E, Mez Jesse and 30 more
Genes: APOE
Mutation of key amino acids in the polygalacturonase-inhibiting proteins CkPGIP1 and GhPGIP1 improves resistance to Verticillium wilt in cotton.
The Plant journal : for cell and molecular biology | 2018-11-01 | PMID 30053316
Liu Nana, Sun Yun, Wang Ping and 6 more
Nitric Oxide Activates β-Cell Glucokinase by Promoting Formation of the "Glucose-Activated" State.
Biochemistry | 2018-08-28 | PMID 30053375
Seckinger Kendra M, Rao Vishnu P, Snell Nicole E and 3 more
Genes: GCK
A connection between antimicrobial properties of venom peptides and microbial ATP synthase.
International journal of biological macromolecules | 2018-11-01 | PMID 30053390
Syed Hiba, Tauseef Mohammad, Ahmad Zulfiqar
First case of genetically confirmed CLN3 disease in Chinese with cDNA sequencing revealing pathogenicity of a novel splice site variant.
Clinica chimica acta; international journal of clinical chemistry | 2018-11-01 | PMID 30053402
Lau Nike Kwai Cheung, Ching Chor Kwan, Lee Hencher Han Chih and 4 more
Genes: CLN3
Electrostatic state of the cytoplasmic domain influences inactivation at the selectivity filter of the KcsA potassium channel.
Biochimica et biophysica acta. Biomembranes | 2019-01-01 | PMID 30053405
Hirano Minako, Ide Toru
Genes: CPD
The complete genome of Cyprinid herpesvirus 2, a new strain isolated from Allogynogenetic crucian carp.
Virus research | 2018-09-02 | PMID 30053416
Liu Bo, Zhou Yang, Li Kun and 5 more
The Psychiatric Cell Map Initiative: A Convergent Systems Biological Approach to Illuminating Key Molecular Pathways in Neuropsychiatric Disorders.
Cell | 2018-07-26 | PMID 30053424
Willsey A Jeremy, Morris Montana T, Wang Sheng and 33 more
Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India.
Clinical immunology (Orlando, Fla.) | 2018-10-01 | PMID 30053428
Rawat Amit, Mathew Babu, Pandiarajan Vignesh and 16 more
Metformin suppresses tumor angiogenesis and enhances the chemosensitivity of gemcitabine in a genetically engineered mouse model of pancreatic cancer.
Life sciences | 2018-09-01 | PMID 30053447
Qian Weikun, Li Jie, Chen Ke and 7 more
Genes: SHH
Effect of homocysteine on pregnancy: A systematic review.
Chemico-biological interactions | 2018-09-25 | PMID 30053452
Gaiday Andrey N, Tussupkaliyev Akylbek B, Bermagambetova Saule K and 4 more
Role of SDF-1 3'A polymorphism in HIV-1 disease progression: A systematic review and meta-analysis.
Gene | 2018-11-30 | PMID 30053458
Wei Meide, Rong Chengzhi, Zhao Jiangyang and 3 more
MFGE8 polymorphisms are significantly associated with metabolism-related indicators rather than metabolic syndrome in Chinese people: A nested case-control study.
Gene | 2018-11-30 | PMID 30053459
Liu Leilei, Cheng Cheng, Zhang Dongdong and 20 more
Genes: MFGE8, DBP
Benzo(a)pyrene attenuates the pattern-recognition-receptor induced proinflammatory phenotype of murine macrophages by inducing IL-10 expression in an aryl hydrocarbon receptor-dependent manner.
Toxicology | 2018-11-01 | PMID 30053493
Fueldner Christiane, Kohlschmidt Janine, Riemschneider Sina and 5 more
Genes: TNF
Molecular biology tools for the study and therapy of PDE6β mutations.
Journal of biotechnology | 2018-10-20 | PMID 30053498
Bitoque Diogo B, Silva Gabriela A
Altered methyltetrahydrofolate reductase gene polymorphism in mothers of children with attention deficit and hyperactivity disorder.
Progress in neuro-psychopharmacology & biological psychiatry | 2019-01-10 | PMID 30053573
Baykal Saliha, Batar Bahadır, Nalbantoğlu Ayşin and 6 more
Genes: MTHFR
Bacteria and archaea as the sources of traits for enhanced plant phenotypes.
Biotechnology advances | 2018-11-15 | PMID 30053578
Smith-Moore Caroline M, Grunden Amy M
Characterization of a lipid droplet protein from Yarrowia lipolytica that is required for its oleaginous phenotype.
Biochimica et biophysica acta. Molecular and cell biology of lipids | 2018-10-01 | PMID 30053597
Bhutada Govindprasad, Kavšček Martin, Hofer Florian and 6 more
Staphylococcal cassette chromosome mec (SCCmec) and characterization of the attachment site (attB) of methicillin resistant Staphylococcus aureus (MRSA) and methicillin susceptible Staphylococcus aureus (MSSA) isolates.
Microbial pathogenesis | 2018-10-01 | PMID 30053600
Bitrus Asinamai Athliamai, Zunita Zakaria, Khairani-Bejo Siti and 2 more
Prognostic value of mitochondrial DNA4977 deletion and mitochondrial DNA copy number in patients with stable coronary artery disease.
Atherosclerosis | 2018-09-01 | PMID 30053637
Vecoli Cecilia, Borghini Andrea, Pulignani Silvia and 5 more
Genes: CAD
Genomic characterization of extensively drug-resistant Acinetobacter baumannii strain, KAB03 belonging to ST451 from Korea.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases | 2018-11-01 | PMID 30053642
Lee Sang-Yeop, Oh Man Hwan, Yun Sung Ho and 11 more
Molecular detection of Toxoplasma gondii in feathered game intended for human consumption in the Czech Republic.
International journal of food microbiology | 2018-12-02 | PMID 30053696
Skorpikova Lucie, Reslova Nikol, Lorencova Alena and 4 more
Neuromyelitis optica spectrum disorder and multiple sclerosis in a Sardinian family.
Multiple sclerosis and related disorders | 2018-10-01 | PMID 30053751
Gelibter S, Mazzi B, Tassara M and 11 more
Identification of Two Novel Mutations in KDM3A Regulatory Gene in Iranian Infertile Males
Iranian biomedical journal | 2019-05-01 | PMID 30053768
Hojati Zohreh, Soleimanpour Elaheh, Javadirad Seyed-Morteza and 1 more
Association between MKRN3 and LIN28B polymorphisms and precocious puberty.
BMC genetics | 2018-07-27 | PMID 30053798
Yi Bo Ram, Kim Hyun Jeong, Park Hye Sook and 7 more
Genes: MKRN3
Transcriptomic analysis identifies the key genes involved in stamen petaloid in lotus (Nelumbo nucifera).
BMC genomics | 2018-07-27 | PMID 30053802
Lin Zhongyuan, Damaris Rebecca Njeri, Shi Tao and 2 more
Cumulative evidence for relationships between multiple variants of HNF1B and the risk of prostate and endometrial cancers.
BMC medical genetics | 2018-07-27 | PMID 30053805
Tong Yu, Qu Yi, Li Shiping and 3 more
New insights into apolipoprotein A5 in controlling lipoprotein metabolism in obesity and the metabolic syndrome patients.
Lipids in health and disease | 2018-07-27 | PMID 30053818
Su Xin, Kong Yi, Peng Dao-Quan
Genes: LPL
The polymorphism G894 T of endothelial nitric oxide synthase (eNOS) gene is associated with susceptibility to essential hypertension (EH) in Morocco.
BMC medical genetics | 2018-07-27 | PMID 30053839
Nassereddine Sanaa, Hassani Idrissi Hind, Habbal Rachida and 5 more
Association study between a polymorphic poly-T repeat sequence in the promoter of the somatostatin gene and metabolic syndrome.
BMC medical genetics | 2018-07-27 | PMID 30053852
Tremblay Monique, Brisson Diane, Gaudet Daniel
Genes: SST, CAD
A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report.
BMC medical genetics | 2018-07-27 | PMID 30053862
Hyun Hye Sun, Kim Seong Heon, Park Eujin and 7 more
Genes: LAGE3, OSGEP, TPRKB
Difference in transducin-like enhancer of split 1 protein expression between basal cell adenomas and basal cell adenocarcinomas - an immunohistochemical study.
Diagnostic pathology | 2018-07-27 | PMID 30053869
Oyama Yuzo, Nishida Haruto, Kusaba Takahiro and 9 more
Genes: TLE1, CTNNB1
Diversity and natural selection on the thrombospondin-related adhesive protein (TRAP) gene of Plasmodium knowlesi in Malaysia.
Malaria journal | 2018-07-27 | PMID 30053885
Ahmed Md Atique, Lau Yee Ling, Quan Fu-Shi
Genes: FST
Integrative omics analyses broaden treatment targets in human cancer.
Genome medicine | 2018-07-27 | PMID 30053901
Sengupta Sohini, Sun Sam Q, Huang Kuan-Lin and 18 more
Genes: BRAF, ESR1
A multi-center phase II study of high dose interleukin-2 sequenced with vemurafenib in patients with BRAF-V600 mutation positive metastatic melanoma.
Journal for immunotherapy of cancer | 2018-07-27 | PMID 30053905
Clark Joseph I, Singh Jatinder, Ernstoff Marc S and 11 more
Genes: BRAF, BID
Associations of high-altitude polycythemia with polymorphisms in PIK3CD and COL4A3 in Tibetan populations.
Human genomics | 2018-07-27 | PMID 30053909
Fan Xiaowei, Ma Lifeng, Zhang Zhiying and 10 more
Prevalence of chloroquine resistance alleles among Plasmodium falciparum parasites in countries affected by malaria disease since change of treatment policy: a systematic review protocol.
Systematic reviews | 2018-07-27 | PMID 30053912
Ocan Moses, Akena Dickens, Nsobya Sam and 4 more
Human genetic variants and age are the strongest predictors of humoral immune responses to common pathogens and vaccines.
Genome medicine | 2018-07-27 | PMID 30053915
Scepanovic Petar, Alanio Cécile, Hammer Christian and 11 more
High risk of subclinical atherosclerosis in COPD exacerbator phenotype.
Respiratory medicine | 2018-08-01 | PMID 30053963
Domenech Adolfo, Muñoz-Montiel Ana, García-Casares Natalia and 7 more
Donor's APOL1 Risk Genotype and "Second Hits" Associated With De Novo Collapsing Glomerulopathy in Deceased Donor Kidney Transplant Recipients: A Report of 5 Cases.
American journal of kidney diseases : the official journal of the National Kidney Foundation | 2019-01-01 | PMID 30054024
Chang Jae-Hyung, Husain S Ali, Santoriello Dominick and 10 more
Genes: APOL1
Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease?
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 2018-11-01 | PMID 30054086
Kamaşak Tülay, Havalı Cengiz, İnce Hülya and 5 more
Protein tyrosine phosphatase PTPN22 regulates LFA-1 dependent Th1 responses.
Journal of autoimmunity | 2018-11-01 | PMID 30054208
Sanchez-Blanco Cristina, Clarke Fiona, Cornish Georgina H and 8 more
Genes: PTPN22
Systematic identification and annotation of multiple-variant compound effects at transcription factor binding sites in human genome.
Journal of genetics and genomics = Yi chuan xue bao | 2018-07-20 | PMID 30054217
Cheng Si-Jin, Jiang Shuai, Shi Fang-Yuan and 2 more
Genes: COPE
Isolation of Salmonella enterica serovar Agona strains and their similarities to strains derived from a clone caused a serovar shift in broilers.
Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy | 2019-01-01 | PMID 30054228
Yokoyama Eiji, Torii Yasushi, Shigemura Hiroaki and 5 more
Role of a conserved glutamine in the function of voltage-gated Ca2+ channels revealed by a mutation in human CACNA1D.
The Journal of biological chemistry | 2018-09-14 | PMID 30054272
Garza-Lopez Edgar, Lopez Josue A, Hagen Jussara and 3 more
In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.
Cold Spring Harbor molecular case studies | 2018-10-01 | PMID 30054298
Koboldt Daniel C, Kastury Rama D, Waldrop Megan A and 10 more
Genes: BICD2
Spliceosome Mutations Induce R Loop-Associated Sensitivity to ATR Inhibition in Myelodysplastic Syndromes.
Cancer research | 2018-09-15 | PMID 30054334
Nguyen Hai Dang, Leong Wan Yee, Li Weiling and 5 more
Genes: ATR, SRSF2, ZRSR2
A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk.
Cancer research | 2018-09-15 | PMID 30054336
Lu Yingchang, Beeghly-Fadiel Alicia, Wu Lang and 141 more
Genes: FZD4
Multiple Optimal Phenotypes Overcome Redox and Glycolytic Intermediate Metabolite Imbalances in Escherichia coli pgi Knockout Evolutions.
Applied and environmental microbiology | 2018-10-01 | PMID 30054360
McCloskey Douglas, Xu Sibei, Sandberg Troy E and 5 more
Assessment of Rumen Microbiota from a Large Dairy Cattle Cohort Reveals the Pan and Core Bacteriomes Contributing to Varied Phenotypes.
Applied and environmental microbiology | 2018-10-01 | PMID 30054362
Xue Mingyuan, Sun Huizeng, Wu Xuehui and 2 more
Analysis of a large cohort of non-small cell lung cancers submitted for somatic variant analysis demonstrates that targeted next-generation sequencing is fit for purpose as a molecular diagnostic assay in routine practice.
Journal of clinical pathology | 2018-11-01 | PMID 30054375
Moore David Allan, Balbi Kevin, Ingham Alexander and 2 more
Genes: EGFR, KRAS
The role of polymorphic ERAP1 in autoinflammatory disease.
Bioscience reports | 2018-09-03 | PMID 30054427
Reeves Emma, James Edward
Genes: ERAP1
Polymorphisms of the STAT4 gene in the pathogenesis of tuberculosis.
Bioscience reports | 2018-08-31 | PMID 30054428
Wu Shouquan, Wang Minggui, Wang Yu and 2 more
Genes: STAT4
Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.
Nature communications | 2018-07-27 | PMID 30054458
Xue Angli, Wu Yang, Zhu Zhihong and 11 more
Seipin and the membrane-shaping protein Pex30 cooperate in organelle budding from the endoplasmic reticulum.
Nature communications | 2018-07-27 | PMID 30054465
Wang Sihui, Idrissi Fatima-Zahra, Hermansson Martin and 3 more
Macrophages are exploited from an innate wound healing response to facilitate cancer metastasis.
Nature communications | 2018-07-27 | PMID 30054470
Muliaditan Tamara, Caron Jonathan, Okesola Mary and 14 more
Genes: FAP
Lipid droplet and peroxisome biogenesis occur at the same ER subdomains.
Nature communications | 2018-07-27 | PMID 30054481
Joshi Amit S, Nebenfuehr Benjamin, Choudhary Vineet and 4 more
Genes: RHD, MCTP2
Using whole genome scores to compare three clinical phenotyping methods in complex diseases.
Scientific reports | 2018-07-27 | PMID 30054501
Song Wenyu, Huang Hailiang, Zhang Cheng-Zhong and 2 more
Analysis of naturally occurring mutations in the human uptake transporter NaCT important for bone and brain development and energy metabolism.
Scientific reports | 2018-07-27 | PMID 30054523
Selch Stefan, Chafai Anja, Sticht Heinrich and 3 more
Exploring the pathology of an epidermal disease affecting a circum-Antarctic sea star.
Scientific reports | 2018-07-27 | PMID 30054527
Núñez-Pons Laura, Work Thierry M, Angulo-Preckler Carlos and 2 more
Immunophenotyping and transcriptional profiling of in vitro cultured human adipose tissue derived stem cells.
Scientific reports | 2018-07-27 | PMID 30054533
Mieczkowska Alina, Schumacher Adriana, Filipowicz Natalia and 21 more
Long-term Rescue of Photoreceptors in a Rodent Model of Retinitis Pigmentosa Associated with MERTK Mutation.
Scientific reports | 2018-07-27 | PMID 30054542
Lorach H, Kang S, Dalal R and 3 more
Genes: MERTK, RPE
Evaluation and validation of HPV real-time PCR assay for the detection of HPV DNA in oral cytobrush and FFPE samples.
Scientific reports | 2018-07-27 | PMID 30054550
Harlé Alexandre, Guillet Julie, Thomas Jacques and 9 more
Sputum Detection of Predisposing Genetic Mutations in Women with Pulmonary Nontuberculous Mycobacterial Disease.
Scientific reports | 2018-07-27 | PMID 30054559
Philley Julie V, Hertweck Kate L, Kannan Anbarasu and 8 more
Genes: NTM, BRCA1, BRCA2, ATM, BARD1, BRIP1, ERBB2, PALB2
DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes.
Genetics in medicine : official journal of the American College of Medical Genetics | 2019-03-01 | PMID 30054569
Richardson Marcy E, Chong Hansook, Mu Wenbo and 11 more
Genes: ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2
Streptozotocin-induced β-cell damage, high fat diet, and metformin administration regulate Hes3 expression in the adult mouse brain.
Scientific reports | 2018-07-27 | PMID 30054579
Nikolakopoulou Polyxeni, Chatzigeorgiou Antonios, Kourtzelis Ioannis and 25 more
Genetic association of the cytochrome c oxidase-related genes with Alzheimer's disease in Han Chinese.
Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology | 2018-10-01 | PMID 30054583
Bi Rui, Zhang Wen, Zhang Deng-Feng and 9 more
Genes: COX10, SURF1
Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.
Nature genetics | 2018-08-01 | PMID 30054594
MacGregor Stuart, Ong Jue-Sheng, An Jiyuan and 29 more
CRISPR-Cas9 genome editing in human cells occurs via the Fanconi anemia pathway.
Nature genetics | 2018-08-01 | PMID 30054595
Richardson Chris D, Kazane Katelynn R, Feng Sharon J and 5 more
Genes: FANCD2
Type 2 diabetes risk alleles in PAM impact insulin release from human pancreatic β-cells.
Nature genetics | 2018-08-01 | PMID 30054598
Thomsen Soren K, Raimondo Anne, Hastoy Benoit and 17 more
Genes: PAM
Invasion waves and pinning in the Kirkpatrick-Barton model of evolutionary range dynamics.
Journal of mathematical biology | 2019-01-01 | PMID 30054672
Miller Judith R
[Genetic diagnostics of retinal dystrophies : Breakthrough with new methods of DNA sequencing].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft | 2018-12-01 | PMID 30054723
Bolz H J
Whole-exome sequencing identifies rare genetic variations in German families with pulmonary sarcoidosis.
Human genetics | 2018-09-01 | PMID 30054724
Kishore Amit, Petersen Britt-Sabina, Nutsua Marcel and 5 more
Molecular analysis of Newcastle disease virus isolates reveals a novel XIId subgenotype in Vietnam.
Archives of virology | 2018-11-01 | PMID 30054746
Le Xuyen Thi Kim, Doan Huong Thi Thanh, Le Thanh Hoa
Statin resistance in Candida glabrata.
Biotechnology letters | 2018-10-01 | PMID 30054755
Subhan Mishal, Faryal Rani, Macreadie Ian
Genes: HMGCR
Variation of cassiicolin genes among Chinese isolates of Corynespora cassiicola.
Journal of microbiology (Seoul, Korea) | 2018-09-01 | PMID 30054815
Wu Jun, Xie Xuewen, Shi Yanxia and 3 more
Prolonged lipopolysaccharide exposure induces transient immunosuppression in BV2 microglia.
Journal of cellular physiology | 2019-02-01 | PMID 30054903
Twayana Krishna Sundar, Chaudhari Namrata, Ravanan Palaniyandi
Genes: TNF
Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.
Clinical genetics | 2018-12-01 | PMID 30054919
Patel N, Alkuraya H, Alzahrani S S and 20 more
Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders.
Clinical genetics | 2019-01-01 | PMID 30054924
Bellai-Dussault Kara, Nguyen Thi Tuyet Mai, Baratang Nissan V and 2 more
Genes: GPI
Genomic consequences of a recent three-way admixture in supplemented wild brown trout populations revealed by local ancestry tracts.
Molecular ecology | 2018-09-01 | PMID 30054960
Leitwein Maeva, Gagnaire Pierre-Alexandre, Desmarais Erick and 2 more
Interleukin 6 gene polymorphism is associated with protein serum level and disease activity in Polish patients with rheumatoid arthritis.
HLA | 2018-12-01 | PMID 30054992
Wielińska J, Dratwa M, Świerkot J and 4 more
Analysis of Transmission Routes of Hepatitis C Virus Based on Virus Genotyping in 341 Cases with Different Suspected Initial Infection Time Points in Hunan Province, China.
Medical science monitor : international medical journal of experimental and clinical research | 2018-07-28 | PMID 30055000
Lei Jian-Hua, Liang Jun, Gong Xing and 3 more
Predictable adaptive trajectories of sexual coloration in the wild: Evidence from replicate experimental guppy populations.
Evolution; international journal of organic evolution | 2018-11-01 | PMID 30055021
Kemp Darrell J, Batistic Frana-Katica, Reznick David N
Variants in Notch signalling pathway genes, PSEN1 and MAML2, predict overall survival in Chinese patients with epithelial ovarian cancer.
Journal of cellular and molecular medicine | 2018-10-01 | PMID 30055028
Xu Yuan, Cheng Lei, Dai Hongji and 6 more
Genes: PSEN1, MAML2
A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review.
American journal of medical genetics. Part A | 2018-08-01 | PMID 30055029
Ryabets-Lienhard Anna, Issaranggoon Na Ayuthaya Satja, Graham John M and 1 more
Genes: TBCE
Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome.
American journal of medical genetics. Part A | 2018-08-01 | PMID 30055034
Schindewolf Erica, Khalek Nahla, Johnson Mark P and 6 more
Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome.
American journal of medical genetics. Part A | 2018-08-01 | PMID 30055036
Ankala Arunkanth, Jain Nieraj, Hubbard Baker and 2 more
Genes: VCAN
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.
Human mutation | 2018-10-01 | PMID 30055037
Oliveira Jorge, Gruber Angela, Cardoso Márcio and 20 more
Genes: LAMA2
De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.
American journal of medical genetics. Part A | 2018-08-01 | PMID 30055040
Rogers Amanda, Golumbek Paul, Cellini Elena and 5 more
Genes: KCNA1, KCNA2
Aplastic anemia: Etiology, molecular pathogenesis, and emerging concepts.
European journal of haematology | 2018-12-01 | PMID 30055055
Shallis Rory M, Ahmad Rami, Zeidan Amer M
Genes: ASXL1, BCOR, PIGA, TERT
Sex-biased gene expression, sexual antagonism and levels of genetic diversity in the collared flycatcher (Ficedula albicollis) genome.
Molecular ecology | 2018-09-01 | PMID 30055065
Dutoit Ludovic, Mugal Carina F, Bolívar Paulina and 6 more
A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability.
American journal of medical genetics. Part A | 2018-09-01 | PMID 30055078
Loid Petra, Mäkitie Riikka, Costantini Alice and 3 more
Health supervision for people with Bloom syndrome.
American journal of medical genetics. Part A | 2018-09-01 | PMID 30055079
Cunniff Christopher, Djavid Amir Reza, Carrubba Steven and 8 more
Novel mosaic SRY gene deletions in three newborn males with variable genitourinary malformations.
American journal of medical genetics. Part A | 2018-09-01 | PMID 30055081
Roberts Jennifer, Lyalin Dmitry, Tosatto Norwood and 6 more
Genes: SRY