ZNF142 mutation causes sex-dependent neurologic disorder.
Journal of medical genetics | 2024-05-21 | PMID 38296634
Proskorovski-Ohayon Regina, Eskin-Schwartz Marina, Shorer Zamir and 10 more
Genes: ZNF142
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 9369 of 10600
Variant reclassification and clinical implications.
Journal of medical genetics | 2024-02-21 | PMID 38296635
Walsh Nicola, Cooper Aislinn, Dockery Adrian and 1 more
Histogram Analysis of Apparent Diffusion Coefficient Maps Provides Genotypic and Pretreatment Phenotypic Information in Pediatric and Young Adult Rhabdomyosarcoma.
Academic radiology | 2024-06-01 | PMID 38296742
Ghosh Adarsh, Li Hailong, Towbin Alexander J and 2 more
Comparison of the ASAS Health Index in patients classified as radiographic axial spondyloarthritis (axSpA) or non-radiographic axSpA in the ASAS Health Index international validation study.
RMD open | 2024-01-31 | PMID 38296803
Fong Warren, Woon Ting Hui, Kwan Yu Heng and 4 more
Large-scale duplication events underpin population-level flexibility in tRNA gene copy number in Pseudomonas fluorescens SBW25.
Nucleic acids research | 2024-03-21 | PMID 38296823
Khomarbaghi Zahra, Ngan Wing Y, Ayan Gökçe B and 4 more
Saliva direct PCR protocol for HLA-DQB1*02 genotyping.
International journal of immunogenetics | 2024-04-01 | PMID 38296826
Carrillo Angeles, Manzur María Jimena, Juri Ayub Maximiliano
The interaction of RELN-DNMT genes involving in neurotrophin signaling pathway contributes to schizophrenia susceptibility.
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience | 2024-04-01 | PMID 38296839
Ping Junjiao, Wan Jing, Luo Jiali and 4 more
Evaluation of morphological traits using multivariate techniques in Kotdhar goat native to Shivalik hill region of Himachal Pradesh.
Tropical animal health and production | 2024-01-31 | PMID 38296882
Dinesh Krishanender, Sankhyan V, Thakur D and 2 more
An analysis of lncRNAs related to fiber quality and the discovery of their target genes in a Gossypium hirsutum line with Gossypium mustelinum introgression.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2024-01-31 | PMID 38296887
Wang Baohua, Ji Meijun, Fang Hui and 13 more
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.
Neurogenetics | 2024-04-01 | PMID 38296890
Safwat Sylvia, Flannery Kyle P, El Beheiry Ahmed A and 3 more
GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcγ receptor region.
Nature communications | 2024-01-31 | PMID 38296975
Ishikawa Yuki, Tanaka Nao, Asano Yoshihide and 69 more
Population pharmacokinetics of lenalidomide in Chinese patients with influence of genetic polymorphisms of ABCB1.
Scientific reports | 2024-01-31 | PMID 38297024
Liang Xiaoxiao, Shi Haiyan, Bi Kehong and 4 more
Oligogenic inheritance in severe adult obesity.
International journal of obesity (2005) | 2024-06-01 | PMID 38297031
Almansoori Sumaya, Alsters Suzanne I, Yiorkas Andrianos M and 6 more
SRC family kinase inhibition rescues molecular and behavioral phenotypes, but not protein interaction network dynamics, in a mouse model of Fragile X syndrome.
Molecular psychiatry | 2024-05-01 | PMID 38297084
Stamenkovic Vera, Lautz Jonathan D, Harsh Felicia M and 1 more
Genes: FMR1, SRC
CD38 genetic variation is associated with increased personal distress to an emotional stimulus.
Scientific reports | 2024-01-31 | PMID 38297097
Procyshyn Tanya L, Leclerc Bédard Laury-Ann, Crespi Bernard J and 1 more
SHR and SCR coordinate root patterning and growth early in the cell cycle.
Nature | 2024-02-01 | PMID 38297119
Winter Cara M, Szekely Pablo, Popov Vladimir and 6 more
Stress response silencing by an E3 ligase mutated in neurodegeneration.
Nature | 2024-02-01 | PMID 38297121
Haakonsen Diane L, Heider Michael, Ingersoll Andrew J and 5 more
The Born in Guangzhou Cohort Study enables generational genetic discoveries.
Nature | 2024-02-01 | PMID 38297123
Huang Shujia, Liu Siyang, Huang Mingxi and 13 more
7-Dehydrocholesterol is an endogenous suppressor of ferroptosis.
Nature | 2024-02-01 | PMID 38297129
Freitas Florencio Porto, Alborzinia Hamed, Dos Santos Ancély Ferreira and 44 more
Genes: DHCR7
Modeling mutation-specific arrhythmogenic phenotypes in isogenic human iPSC-derived cardiac tissues.
Scientific reports | 2024-01-31 | PMID 38297132
Maurissen Thomas L, Kawatou Masahide, López-Dávila Víctor and 3 more
BRCA 1/2 mutations and risk of uterine cancer: a systematic review and meta-analysis.
BMC genomic data | 2024-01-31 | PMID 38297203
Zakerinasab Faezeh, Behfar Qumars, Parsaee Reza and 4 more
Inbreeding depression is associated with recent homozygous-by-descent segments in Belgian Blue beef cattle.
Genetics, selection, evolution : GSE | 2024-01-31 | PMID 38297209
Naji Maulana Mughitz, Gualdrón Duarte José Luis, Forneris Natalia Soledad and 1 more
Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation.
BMC medical genomics | 2024-01-31 | PMID 38297306
Zhang Qiang, Yang Qi, Luo Jingsi and 4 more
The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases.
Human genomics | 2024-01-31 | PMID 38297315
Zhang Xue, Chen Qian, Li Junnan and 7 more
Lung function and the risk of frailty in the European population: a mendelian randomization study.
European journal of medical research | 2024-02-01 | PMID 38297347
Zhou Rong, Tian Ge, Guo Xingzhi and 1 more
An evaluation of GPT models for phenotype concept recognition.
BMC medical informatics and decision making | 2024-01-31 | PMID 38297371
Groza Tudor, Caufield Harry, Gration Dylan and 5 more
Genes: GPT
Computational validation of clonal and subclonal copy number alterations from bulk tumor sequencing using CNAqc.
Genome biology | 2024-01-31 | PMID 38297376
Antonello Alice, Bergamin Riccardo, Calonaci Nicola and 9 more
Macrophage Ontogeny, Phenotype, and Function in Ischemia Reperfusion-Induced Injury and Repair.
Kidney360 | 2024-03-01 | PMID 38297436
Maryam Bibi, Smith Morgan E, Miller Sarah J and 2 more
Genes: CCL2, TNF
Conservation genomics analysis reveals recent population decline and possible causes in bumblebee Bombus opulentus.
Insect science | 2024-10-01 | PMID 38297451
Sang Huiling, Li Yancan, Tan Shuxin and 5 more
PUF60 loss-of-function with normal cognition should be considered in the differential diagnosis of Klippel-Feil syndrome.
American journal of medical genetics. Part A | 2024-06-01 | PMID 38297485
Bach Michal Yacobi, Miron Sivan Reytan, Kurolap Alina and 1 more
Biallelic non-productive enhancer-promoter interactions precede imprinted expression of Kcnk9 during mouse neural commitment.
HGG advances | 2024-04-11 | PMID 38297831
Rengifo Rojas Cecilia, Cercy Jil, Perillous Sophie and 13 more
Genes: CTCF
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
HGG advances | 2024-04-11 | PMID 38297832
Ansari Morad, Faour Kamli N W, Shimamura Akiko and 53 more
Genes: SMC3
Most Tibetan weedy barleys originated via recombination between Btr1 and Btr2 in domesticated barley.
Plant communications | 2024-05-13 | PMID 38297838
Gao Guangqi, Yan Luxi, Cai Yu and 10 more
[Genetic characteristic analysis of slight-to-moderate sensorineural hearing loss in children].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery | 2024-01-01 | PMID 38297844
Zhou Rui, Guan Jing, Wang Qiuju
[Distribution characteristics and correlation analysis of GJB2 variation in patients with auditory neuropathy].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery | 2024-01-01 | PMID 38297845
Li Yiming, Wang Hongyang, Li Danyang and 1 more
[Splicing mutations of GSDME cause late-onset non-syndromic hearing loss].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery | 2024-01-01 | PMID 38297846
Li Danyang, Wang Hongyang, Wang Qiuju
[Genetic and phenotypic analysis of MYO15A rare variants associated with autosomal recessive hearing loss].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery | 2024-01-01 | PMID 38297847
Lin Yun, Xu Jun, Yang Tao
[Long-term auditory monitoring in children with Alport syndrome based on different degrees of renal injury].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery | 2024-01-01 | PMID 38297848
Guo Lining, Liu Wei, Chen Min and 9 more
[Research progress on hereditary endocrine and metabolic diseases associated with sensorineural hearing loss].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery | 2024-01-01 | PMID 38297851
Chen Fang, Zhang Qinying, Zhang Qiujing and 1 more
[Clinical features of CAPOS syndrome caused by maternal ATP1A3 gene variation: a case report].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery | 2024-01-01 | PMID 38297853
Gao Yun, Li Fengjiao, Luo Rong and 4 more
Phenotypic and genotypic characterization of Neisseria gonorrhoeae isolates among individuals at high risk for sexually transmitted diseases in Zurich, Switzerland.
International journal of STD & AIDS | 2024-05-01 | PMID 38297880
Jünger Christian, Imkamp Frank, Balakrishna Suraj and 8 more
Landscape and Saturation Analysis of Mutations Associated With Race in Cancer Genomes by Clinical Sequencing.
The oncologist | 2024-03-04 | PMID 38297963
Muquith Maishara, Hsiehchen David
Genes: TERT
Excessive tubulin glutamylation leads to progressive cone-rod dystrophy and loss of outer segment integrity.
Human molecular genetics | 2024-04-18 | PMID 38297980
Aljammal Rawaa, Saravanan Thamaraiselvi, Guan Tongju and 3 more
Effects of parental age and polymer composition on short tandem repeat de novo mutation rates.
Genetics | 2024-04-03 | PMID 38298127
Goldberg Michael E, Noyes Michelle D, Eichler Evan E and 2 more
Epigenetic stress memory in gymnosperms.
Plant physiology | 2024-05-31 | PMID 38298164
Fossdal Carl Gunnar, Krokene Paal, Olsen Jorunn Elisabeth and 4 more
What Do We Know about Neonatal Diabetes caused by PDX1 Mutations?
Current diabetes reviews | 2024-01-01 | PMID 38299270
de Souza Ritiele Bastos, Cabello Pedro Hernán, Rosado Eliane Lopes and 2 more
Polly: An R package for genotyping microsatellites and detecting highly polymorphic DNA markers from short-read data.
Molecular ecology resources | 2024-05-01 | PMID 38299378
Perry Annabel, Eddelbuettel Dirk, Rosenthal Gil and 1 more
The Parkinson's disease related mutant VPS35 (D620N) amplifies the LRRK2 response to endolysosomal stress.
The Biochemical journal | 2024-02-21 | PMID 38299383
McCarron Katy R, Elcocks Hannah, Mortiboys Heather and 2 more
Genetic Polymorphisms of GP1BA, PEAR1, and PAI-1 may be Associated with Serum sIgE and Blood Eosinophil Levels in Chinese Patients with Allergic Diseases.
Endocrine, metabolic & immune disorders drug targets | 2024-01-01 | PMID 38299390
Tang Rui, Lyu Xiaohong, Sun Jinlyu and 1 more
Rice transcriptional repressor OsTIE1 controls anther dehiscence and male sterility by regulating JA biosynthesis.
The Plant cell | 2024-05-01 | PMID 38299434
Fang Yuxing, Guo Dongshu, Wang Yi and 8 more
The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy.
Muscle & nerve | 2024-04-01 | PMID 38299438
Valls Andrea, Gutiérrez-Gutiérrez Gerardo, Martínez Agustín and 4 more
Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report.
Ophthalmic genetics | 2024-06-01 | PMID 38299479
Boysen Kirstine Bolette, Tümer Zeynep, Bach-Holm Daniella and 2 more
Genes: COL11A1, COL2A1
Differentiating Pathologic from Physiologic Fibrinolysis: Not as Simple as Conventional Thrombelastography.
Journal of the American College of Surgeons | 2024-07-01 | PMID 38299576
Moore Hunter B, Barrett Christopher D, Moore Ernest E and 2 more
Genetic landscape and clinical outcomes of patients with BCOR mutated myeloid neoplasms.
Haematologica | 2024-06-01 | PMID 38299584
Baranwal Anmol, Gurney Mark, Basmaci Rami and 19 more
Patterns of lower risk myelodysplastic syndrome progression: factors predicting progression to high-risk myelodysplastic syndrome and acute myeloid leukemia.
Haematologica | 2024-07-01 | PMID 38299605
Jain Akriti G, Ball Somedeb, Aguirre Luis and 10 more
Clinical phenotypes of patients with acute stroke: a secondary analysis.
Romanian journal of internal medicine = Revue roumaine de medecine interne | 2024-06-01 | PMID 38299606
Hajiesmaeili Mohammadreza, Nooraei Navid, Alamdari Nasser Malekpour and 4 more
Identification of Achalasia Within Absent Contractility Phenotypes on High-Resolution Manometry: Prevalence, Predictive Factors, and Treatment Outcome.
The American journal of gastroenterology | 2024-11-01 | PMID 38299616
Patel Parth, Rogers Benjamin D, Rengarajan Arvind and 3 more
The Mexican Biobank Project promotes genetic discovery, inclusive science and local capacity building.
Disease models & mechanisms | 2024-01-01 | PMID 38299665
Sohail Mashaal, Moreno-Estrada Andrés
T-cell immune profile in blood of systemic mastocytosis: Association with disease features.
Allergy | 2024-07-01 | PMID 38299742
Pérez-Pons Alba, Teodosio Cristina, Jara-Acevedo María and 16 more
Characterization of the novel HLA-A*32:177 allele by sequencing-based typing.
HLA | 2024-02-01 | PMID 38299758
Blandin Lucie, Ralazamahaleo Mamy, Cargou Marine and 2 more
Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory.
Pediatrics international : official journal of the Japan Pediatric Society | 2000-01-01 | PMID 38299772
Sharma Rajesh, Kucera Cathlin R, Nery Camille R and 3 more
Reproductive traits in Pura Raza Española mares manifest inbreeding depression from low levels of homozygosity.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie | 2024-07-01 | PMID 38299872
Laseca Nora, Ziadi Chiraz, Perdomo-Gonzalez Davinia I and 3 more
Genetic influences on motor learning and performance and superperforming mutants revealed by random mutational survey of the mouse genome.
The Journal of physiology | 2024-06-01 | PMID 38299894
Jakkamsetti Vikram, Ma Qian, Angulo Gustavo and 3 more
Correlation analysis of airway-facial phenotype in Crouzon syndrome by geometric morphometrics: A promising method for non-radiation airway evaluation.
Orthodontics & craniofacial research | 2024-06-01 | PMID 38300018
Zhong Yehong, Chen Zhewei, Li Binghang and 2 more
Risk Factors for Ovarian Cancer by BRCA Status: A Collaborative Case-Only Analysis.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2024-04-03 | PMID 38300121
Gersekowski Kate, Na Renhua, Alsop Kathryn and 7 more
Genes: BRCA1, BRCA2, IMPACT
The landscape of very important pharmacogenes variants and potential clinical relevance in the Chinese Jingpo population: a comparative study with worldwide populations.
Cancer chemotherapy and pharmacology | 2024-05-01 | PMID 38300251
Ma Xiaoya, Li Yujie, Zang Xufeng and 7 more
Genes: ACE, ALOX5, NAT2, PTGS2, VIP
Validation of Distinct Bladder Pain Phenotypes Utilizing the MAPP Research Network Cohort.
International urogynecology journal | 2024-03-01 | PMID 38300276
Nettey Oluwarotimi Sewedo, Gu Cindy, Jackson Nicholas James and 1 more
Feasibility and safety of EGFR-TKI neoadjuvant therapy for EGFR-mutated NSCLC: A meta-analysis.
European journal of clinical pharmacology | 2024-04-01 | PMID 38300281
Yu Zhuchen, Xu Fei, Zou Juntao
Effect of Roflumilast, a Selective PDE4 Inhibitor, on Bone Phenotypes in ADO2 Mice.
Calcified tissue international | 2024-04-01 | PMID 38300304
Alam Imranul, Hardman Sara L, Gerard-O'Riley Rita L and 5 more
Genes: CLCN7
New candidate region for mirror hand movements: two patients with terminal 9p deletion and 20p duplication.
Molecular biology reports | 2024-02-01 | PMID 38300327
Ozyavuz Cubuk Pelin
Associations of long non-coding RNAs HOTAIR, LINC00951, POLR2E and HULC polymorphisms with the risk of esophageal and esophagogastric junction cancer in a western population: a case-control study.
Molecular biology reports | 2024-02-01 | PMID 38300349
Baili Efstratia, Gazouli Maria, Lazaris Andreas C and 6 more
BRAF V600E Mutation Lacks Association with Poorer Clinical Prognosis in Papillary Thyroid Carcinoma.
Annals of surgical oncology | 2024-05-01 | PMID 38300401
Lai Hon-Fan, Hang Jen-Fan, Kuo Po-Chung and 4 more
Integrating Systemic Therapies into the Multimodality Therapy of Patients with Craniopharyngioma.
Current treatment options in oncology | 2024-02-01 | PMID 38300480
Gritsch David, Santagata Sandro, Brastianos Priscilla K
A Longitudinal Study on Campylobacter in Conventionally Reared Commercial Broiler Flocks in the United States: Prevalence and Genetic Diversity.
Avian diseases | 2024-01-01 | PMID 38300653
Sahin Orhan, Pang Jinji, Pavlovic Nada and 4 more
The D84G mutation in STIM1 causes nuclear envelope dysfunction and myopathy in mice.
The Journal of clinical investigation | 2024-02-01 | PMID 38300705
Bryson Victoria, Wang Chaojian, Zhou Zirui and 4 more
ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.
JCI insight | 2024-02-01 | PMID 38300707
Camarena Vladimir, Williams Monique M, Morales Alejo A and 14 more
The CoREST repressor complex mediates phenotype switching and therapy resistance in melanoma.
The Journal of clinical investigation | 2024-02-01 | PMID 38300709
Wu Muzhou, Hanly Ailish, Gibson Frederick and 15 more
Combining Genomic Biomarkers to Guide Immunotherapy in Non-Small Cell Lung Cancer.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2024-04-01 | PMID 38300729
van de Haar Joris, Mankor Joanne M, Hummelink Karlijn and 6 more
Habitat heterogeneity limits prey colour polymorphism maintained via negative frequency-dependent selection.
Journal of evolutionary biology | 2024-03-01 | PMID 38300757
Murali Gopal, Kodandaramaiah Ullasa, Merilaita Sami
Disruption of placental ACKR3 impairs growth and hematopoietic development of offspring.
Development (Cambridge, England) | 2024-02-15 | PMID 38300826
Fukuoka Ayumi, Wilson Gillian J, Pitmon Elise and 4 more
Genes: ACKR3, CXCL12
Physiological traits contribute to growth and adaptation of Mexican maize landraces.
PloS one | 2024-01-01 | PMID 38300909
Pace Brian A, Perales Hugo R, Gonzalez-Maldonado Noelymar and 1 more
Genes: RGR
Pharmacogenomics of poor drug metabolism in greyhounds: Canine P450 oxidoreductase genetic variation, breed heterogeneity, and functional characterization.
PloS one | 2024-01-01 | PMID 38300925
Martinez Stephanie E, Pandey Amit V, Perez Jimenez Tania E and 2 more
Genes: POR
Cost-effectiveness analysis of olaparib maintenance therapy for BRCA mutation ovarian cancer in the public sector in Malaysia.
PloS one | 2024-01-01 | PMID 38300930
Yong Chee Meng, Yehgambaram Prathepamalar A P, Lee Shaun Wen Huey
Characterization, Structural Analysis, and Thermal Stability Mutation of a New Zearalenone-Degrading Enzyme Mined from Bacillus subtilis.
Journal of agricultural and food chemistry | 2024-02-14 | PMID 38300990
Shi Jinghao, Mwabulili Fred, Xie Yanli and 5 more
Kinase-impaired BTK mutations are susceptible to clinical-stage BTK and IKZF1/3 degrader NX-2127.
Science (New York, N.Y.) | 2024-02-02 | PMID 38301010
Montoya Skye, Bourcier Jessie, Noviski Mark and 50 more
Genes: BTK, BCR, IKZF1
Degradation trumps mutations in cancer.
Science (New York, N.Y.) | 2024-02-02 | PMID 38301021
Davis R Eric, Westin Jason R
MRPS23 is a novel prognostic biomarker and promotes glioma progression.
Aging | 2024-01-31 | PMID 38301044
Wang Qiang, Chen Guiqing, Liu Liang and 4 more
Emerging Epidemiological Data on Rare Intellectual Disability Syndromes from Analyzing the Data of a Large Iranian Cohort.
Archives of Iranian medicine | 2023-04-01 | PMID 38301078
Zare Ashrafi Farzane, Akhtarkhavari Tara, Fattahi Zohreh and 5 more
Influence of HLA-A, -B, -DR Polymorphisms on the Severity of COVID-19: A Case-Control Study in the Iranian Population.
Archives of Iranian medicine | 2023-05-01 | PMID 38301089
Mashayekhi Parisa, Omrani Mir Davood, Yassin Zeynab and 4 more
Expanding the Molecular Spectrum of HK1-Related Charcot-Marie-Tooth Disease, Type 4G; the First Report in Iran.
Archives of Iranian medicine | 2023-05-01 | PMID 38301092
Goleyjani Moghadam Masoumeh, Elahi Zohreh, Soveyzi Mohamad and 5 more
Functional Variants in MicroRNAs (rs895819, rs11614913 and rs2910164) Are Associated with Susceptibility and Clinicopathological Features in Mexican Patients with Colorectal Cancer.
Archives of Iranian medicine | 2023-08-01 | PMID 38301106
Trujillo-Fernández Yuri Giovanna Vanessa, Yzabal-Barbedillo Carmen, Saucedo-Sarinaña Anilú Margarita and 8 more
Patient-Reported Outcomes in OlympiA: A Phase III, Randomized, Placebo-Controlled Trial of Adjuvant Olaparib in gBRCA1/2 Mutations and High-Risk Human Epidermal Growth Factor Receptor 2-Negative Early Breast Cancer.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2024-04-10 | PMID 38301187
Ganz Patricia A, Bandos Hanna, Španić Tanja and 43 more
Genes: BRCA1
From molecular signatures to radiomics: tailoring neurooncological strategies through forecasting of glioma growth.
Neurosurgical focus | 2024-02-01 | PMID 38301234
Rauch Philip, Aichholzer Martin, Serra Carlo and 16 more
Radiographic growth rate as a predictor of aggressiveness of diffuse gliomas without 1p19q codeletion.
Neurosurgical focus | 2024-02-01 | PMID 38301236
Leclerc Arthur, Roux Alexandre, Elia Angela and 13 more
Suppression of antitumor immune signatures and upregulation of VEGFA as IDH-mutant gliomas progress to higher grade.
Neurosurgical focus | 2024-02-01 | PMID 38301244
Grewal Eric P, Richardson Leland G K, Sun Jing and 6 more
A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.
Pediatric neurology | 2024-03-01 | PMID 38301322
Kilic Mehmet Akif, Yildiz Edibe Pembegul, Deniz Adnan and 8 more
Generation of the human induced pluripotent stem cell line (IBKMOLi003-A) from PBMCs of a vascular Ehlers-Danlos syndrome (vEDS) patient carrying the heterozygous nonsense mutation c.430C > T (p.Q105*) in the COL3A1 gene.
Stem cell research | 2024-03-01 | PMID 38301384
Höpperger Sabrina, Spathopoulou Angeliki, Mayer-Suess Lukas and 6 more
Myelodysplastic neoplasms evolving from inherited bone marrow failure syndromes / germline predisposition syndromes: Back under the microscope.
Leukemia research | 2024-02-01 | PMID 38301422
Elghetany M Tarek, Patnaik Mrinal M, Khoury Joseph D
Generation of IGGi003-A induced pluripotent stem cell line from a patient with Sotos Syndrome carrying c.1633delA NSD1 variant in exon 5.
Stem cell research | 2024-04-01 | PMID 38301425
Conteduca Giuseppina, Baldo Chiara, Arado Alessia and 7 more
Association between circulating inflammatory markers and adult cancer risk: a Mendelian randomization analysis.
EBioMedicine | 2024-02-01 | PMID 38301482
Yarmolinsky James, Robinson Jamie W, Mariosa Daniela and 36 more