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1. Full Text Primary renal well‐differentiated neuroendocrine tumour (carcinoid): next‐generation sequencing study of 11 cases
by Pivovarcikova, Kristyna and Agaimy, Abbas and Martinek, Petr and Alaghehbandan, Reza and Perez‐Montiel, Delia and Alvarado‐Cabrero, Isabel and Rogala, Joanna and Kuroda, Naoto and Rychly, Boris and Gasparov, Slavko and Michalova, Kvetoslava and Michal, Michal and Hora, Milan and Pitra, Tomas and Tuckova, Inna and Laciok, Simon and Mareckova, Jana and Hes, Ondrej
Histopathology, ISSN 0309-0167, 07/2019, Volume 75, Issue 1, pp. 104 - 117
Primary renal well-differentiated neuroendocrine tumor (hereafter referred to as renal NET) is rare, with approximately 100 cases reported in the literature.... 
kidney | well‐differentiated neuroendocrine tumour | carcinoid | next‐generation sequencing | primary | well-differentiated neuroendocrine tumour | next-generation sequencing | PATHOLOGY | CELL CARCINOMA | CELL BIOLOGY | DATABASE | MATURE TERATOMA | HORSESHOE KIDNEY | ASSOCIATION | EXPRESSION | CLINICOPATHOLOGICAL FEATURES | Gene mutations | Analysis | Tumors | Synaptophysin | Kidneys | Insulinoma | Thalassemia | Myc protein | Chromosome 3 | E-cadherin | Heterozygosity | CD99 antigen | Angiogenesis | Daxx protein | Protein X | Loss of heterozygosity | Genetic analysis | VHL protein | Mutation | CD56 antigen | Neuroendocrine tumors
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2. Full Text Long-term results of St Jude Total Therapy Studies 11, 12, 13A, 13B, and 14 for childhood acute lymphoblastic leukemia
by Pui, C.H and Pei, D and Sandlund, J.T and Ribeiro, R.C and Rubnitz, J.E and Raimondi, S.C and Onciu, M and Campana, D and Kun, L.E and Jeha, S and Cheng, C and Howard, S.C and Metzger, M.L and Bhojwani, D and Downing, J.R and Evans, W.E and Relling, M.V
Leukemia, ISSN 0887-6924, 02/2010, Volume 24, Issue 2, pp. 371 - 382
We analyzed the long-term outcome of 1011 patients treated in five successive clinical trials (Total Therapy Studies 11, 12, 13A, 13B, and 14) between 1984 and... 
B-lineage ALL | Chemotherapy | CNS relapse | T-lineage ALL | Leukemia | Prognostic factors | TRAUMATIC LUMBAR PUNCTURE | leukemia | LINEAGE DIFFERENCES | prognostic factors | ACUTE MYELOID-LEUKEMIA | CEREBROSPINAL-FLUID | chemotherapy | ONCOLOGY | LOW LEUKOCYTE COUNTS | FOLYLPOLYGLUTAMATE SYNTHETASE | THIOPURINE METHYLTRANSFERASE | TREATMENT RESPONSE | CUMULATIVE INCIDENCE | HEMATOLOGY | MINIMAL RESIDUAL DISEASE | Prognosis | Follow-Up Studies | Humans | Child, Preschool | Infant | Male | Neoplasm Recurrence, Local - pathology | Neoplasm, Residual | Precursor Cell Lymphoblastic Leukemia-Lymphoma - therapy | Time Factors | Neoplasms, Second Primary - therapy | Female | Neoplasms, Second Primary - genetics | Precursor Cell Lymphoblastic Leukemia-Lymphoma - pathology | Child | Injections, Spinal | Neoplasm Recurrence, Local - therapy | Risk Factors | Immunophenotyping | Survival Rate | Treatment Outcome | Combined Modality Therapy | Cranial Irradiation | Remission Induction | Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics | Antineoplastic Combined Chemotherapy Protocols - therapeutic use | Adolescent | Chromosome Aberrations | Neoplasm Recurrence, Local - genetics | Neoplasms, Second Primary - pathology | Care and treatment | Physiological aspects | Research | Acute lymphocytic leukemia | T cells | Health aspects | Risk factors | Cancer | Index Medicus
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3. Full Text Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11
by zur Stadt, Udo and Rohr, Jan and Seifert, Wenke and Koch, Florian and Grieve, Samantha and Pagel, Julia and Strauß, Julia and Kasper, Brigitte and Nürnberg, Gudrun and Becker, Christian and Maul-Pavicic, Andrea and Beutel, Karin and Janka, Gritta and Griffiths, Gillian and Ehl, Stephan and Hennies, Hans Christian
The American Journal of Human Genetics, ISSN 0002-9297, 2009, Volume 85, Issue 4, pp. 482 - 492
Rapid intracellular transport and secretion of cytotoxic granules through the immunological synapse requires a balanced interaction of several proteins.... 
GENE-MUTATIONS | NATURAL-KILLER-CELLS | GRANULE EXOCYTOSIS | CYCLOSPORINE-A | EPITHELIAL-CELLS | GENETICS & HEREDITY | PERFORIN | CYTOTOXICITY | EXPRESSION | SECRETORY LYSOSOMES | GENOTYPE-PHENOTYPE | Lymphohistiocytosis, Hemophagocytic - pathology | Munc18 Proteins - genetics | Humans | Child, Preschool | Munc18 Proteins - metabolism | Genotype | Infant | Male | Chromosome Mapping | Exocytosis | Chromosomes, Human, Pair 19 | Qa-SNARE Proteins - metabolism | Qa-SNARE Proteins - genetics | Female | Polymorphism, Single Nucleotide | Mutation | Lymphohistiocytosis, Hemophagocytic - genetics | SNARE Proteins - metabolism | Usage | Gene mutations | Lymphocytes | Analysis | Inflammation | Genetic aspects | Research | Single nucleotide polymorphisms | Proteins | Genotype & phenotype | Genetic disorders | Binding sites | Index Medicus
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4. Full Text Fatal Outcome in a Newborn Calf Associated with Partial Trisomy 25q and Partial Monosomy 11q, 60,XX,der(11)t(11;25)(q11;q14∼21)
by Iannuzzi, Alessandra and Genualdo, Viviana and Perucatti, Angela and Pauciullo, Alfredo and Varricchio, Giovanna and Incarnato, Domenico and Matassino, Donato and Iannuzzi, Leopoldo
Cytogenetic and Genome Research, ISSN 1424-8581, 11/2015, Volume 146, Issue 3, pp. 222 - 229
A newborn calf of the Agerolese cattle breed underwent clinical cytogenetic investigation because of hyperflexion of the forelimbs, red eyes and the inability... 
Original Article | FISH analysis | Agerolese cattle breed | Fatal disease | Chromosomal aberrations | MOLECULAR CHARACTERIZATION | SUBFERTILE BULL | CATTLE | RECIPROCAL TRANSLOCATION | X-AUTOSOME TRANSLOCATION | SEGREGATION | FERTILITY | CELL BIOLOGY | CHROMOSOME-TRANSLOCATION | SYNAPTONEMAL COMPLEX-ANALYSIS | GENETICS & HEREDITY | ROBERTSONIAN TRANSLOCATION | Animals, Newborn | Translocation, Genetic | Trisomy | Animals | Cattle | In Situ Hybridization, Fluorescence | Monosomy | Index Medicus
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5. Full Text The human cadherin 11 is a pro-apoptotic tumor suppressor modulating cell stemness through Wnt/Β-catenin signaling and silenced in common carcinomas
by Li, L and Ying, J and Li, H and Zhang, Y and Shu, X and Fan, Y and Tan, J and Cao, Y and Tsao, S.W and Srivastava, G and Chan, A.T.C and Tao, Q
Oncogene, ISSN 0950-9232, 08/2012, Volume 31, Issue 34, pp. 3901 - 3912
Genetic alterations of 16q21-q22, the locus of a 6-cadherin cluster, are frequently involved in multiple tumors, suggesting the presence of critical tumor... 
cadherin | carcinoma | methylation | tumor suppressor gene | CDH11 | MULTIPLE CARCINOMAS | BIOCHEMISTRY & MOLECULAR BIOLOGY | LUNG CARCINOMAS | CELL BIOLOGY | EPITHELIAL-MESENCHYMAL TRANSITION | ABERRANT METHYLATION | NASOPHARYNGEAL CARCINOMA | ONCOLOGY | GASTRIC-CANCER | COLORECTAL-CANCER | PROSTATE-CANCER CELLS | GENETICS & HEREDITY | PROMOTER REGION | MYELOID-LEUKEMIA | Neoplasms - metabolism | Cadherins - metabolism | Humans | Gene Expression Regulation, Neoplastic | Apoptosis - genetics | Epithelial-Mesenchymal Transition - genetics | Wnt Proteins - metabolism | Promoter Regions, Genetic - genetics | Gene Knockdown Techniques | DNA Methylation | Neoplasms - genetics | Neoplastic Stem Cells - metabolism | Tumor Suppressor Proteins - genetics | Neoplastic Stem Cells - pathology | Cell Membrane - metabolism | Cadherins - genetics | Chromosomes, Human, Pair 16 - genetics | Cell Line | Tumor Suppressor Proteins - metabolism | Signal Transduction | HCT116 Cells | Comparative Genomic Hybridization - methods | Reverse Transcriptase Polymerase Chain Reaction | beta Catenin - metabolism | Blotting, Western | Microscopy, Confocal | Cell Line, Tumor | CpG Islands - genetics | Neoplasms - pathology | Index Medicus | Carcinoma | Wnt protein | Epithelial cells | catenin | Fetuses | Multiple primary tumors | AKT protein | Tumor cell lines | Cadherin | Gene deletion | Stress | epigenetics | Fibers | Demethylation | Actin | Stem cells | DNA methylation | Tumor suppressor genes | genomics | chromosome 16 | Cell migration | Apoptosis | CpG islands | Tumors | Original
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6. Full Text Genome-Wide Association Study of Alcohol Dependence Implicates a Region on Chromosome 11
by Edenberg, Howard J and Koller, Daniel L and Xuei, Xiaoling and Wetherill, Leah and McClintick, Jeanette N and Almasy, Laura and Bierut, Laura J and Bucholz, Kathleen K and Goate, Alison and Aliev, Fazil and Dick, Danielle and Hesselbrock, Victor and Hinrichs, Anthony and Kramer, John and Kuperman, Sam and Nurnberger, John I and Rice, John P and Schuckit, Marc A and Taylor, Robert and Todd Webb, B and Tischfield, Jay A and Porjesz, Bernice and Foroud, Tatiana
Alcoholism Clinical and Experimental Research, ISSN 0145-6008, 05/2010, Volume 34, Issue 5, pp. 840 - 852
Background:  Alcohol dependence is a complex disease, and although linkage and candidate gene studies have identified several genes associated with the risk... 
Family Study | Genome-Wide Association Study | Gene Expression | Alcohol Dependence | Case-Control Study | DRUG-DEPENDENCE | RECEPTOR | ADH4 GENE VARIATION | SUBSTANCE ABUSE | CHRM2 GENE | STRUCTURED ASSOCIATION | FAMILY | LINKAGE DISEQUILIBRIUM | COCAINE DEPENDENCE | GABRA2 GENE | EUROPEAN AMERICANS | Genetic Predisposition to Disease - genetics | Follow-Up Studies | Humans | Middle Aged | Gene Expression Regulation - physiology | Genome-Wide Association Study - trends | Male | Chromosomes, Human, Pair 11 - genetics | Gene Expression Profiling | Alcoholism - diagnosis | Alcoholism - epidemiology | Case-Control Studies | Gene Expression Regulation - drug effects | Young Adult | Adolescent | Polymorphism, Single Nucleotide - genetics | Adult | Alcoholism - genetics | Female | Genome-Wide Association Study - methods | Genomics | Alcoholism | Genetic research | Illegal drugs | Family | Genomes | Gene expression | Index Medicus | family study | alcohol dependence | case-control study | gene expression | genome-wide association study
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7. Full Text Fetal intracranial translucency and cisterna magna at 11 to 14 weeks: reference ranges and correlation with chromosomal abnormalities
by Papastefanou, I and Souka, A. P and Pilalis, A and Panagopoulos, P and Kassanos, D
Prenatal Diagnosis, ISSN 0197-3851, 12/2011, Volume 31, Issue 12, pp. 1189 - 1192
Objective To measure the intracranial translucency (IT) and the cisterna magna (CM), to produce reference ranges and to examine the interobserver and... 
11 to 14 weeks ultrasound scan | intracranial translucency | chromosomal abnormalities | fourth ventricle | posterior fossa | cisterna magna | Fourth ventricle | Chromosomal abnormalities | Posterior fossa | Intracranial translucency | 11 to 14weeks ultrasound scan | Cisterna magna | SPINA-BIFIDA | DIAGNOSIS | GENETICS & HEREDITY | 11 to 14?weeks ultrasound scan | FETUSES | OBSTETRICS & GYNECOLOGY | Pregnancy | Cisterna Magna - diagnostic imaging | Prospective Studies | Ultrasonography, Prenatal | Humans | Chromosome Aberrations | Female | Reference Values | Retrospective Studies | Observer Variation | Index Medicus
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8. Full Text An international reference consensus genetic map with 897 marker loci based on 11 mapping populations for tetraploid groundnut (arachis hypogaea l.)
by Gautami, Bhimana and Foncéka, Daniel and Pandey, Manish K and Moretzsohn, Márcio C and Sujay, Venkataswamy and Qin, Hongde and Hong, Yanbin and Faye, Issa and Chen, Xiaoping and BhanuPrakash, Amindala and Shah, Trushar M and Gowda, Makanahally V. C and Nigam, Shyam N and Liang, Xuanqiang and Hoisington, Dave A and Guo, Baozhu and Bertioli, David J and Rami, Jean-Francois and Varshney, Rajeev K
PLoS ONE, ISSN 1932-6203, 07/2012, Volume 7, Issue 7, pp. e41213 - e41213
Only a few genetic maps based on recombinant inbred line (RIL) and backcross (BC) populations have been developed for tetraploid groundnut. The marker density,... 
LINKAGE MAP | CULTIVATED PEANUT | SSR MARKERS | BARLEY | BIOLOGY | RESISTANCE | MAIZE | TRAIT | QTLS | GENOME | RFLP MAP | Genes, Plant | Physical Chromosome Mapping | Arachis - genetics | Databases, Genetic | Genotype | International Cooperation | Genetic Markers | Genome, Plant | Tetraploidy | Chromosome Mapping - methods | Models, Genetic | Quantitative Trait Loci | Microsatellite Repeats | Genetic Linkage | Quantitative genetics | Genomics | Soybeans | Plant pathology | Populations | Genomes | Density | Population genetics | Maps | Population | Genetics | Inbreeding | Bioinformatics | Recombinant | Breeding | Crops | Markers | Domestication | Sorghum | Loci | Quantitative trait loci | Studies | Bins | Gene loci | Gene mapping | Polymorphism | Index Medicus
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9. Full Text Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae
by Guo, Lin and Choufani, Sanaa and Ferreira, Jose and Smith, Adam and Chitayat, David and Shuman, Cheryl and Uxa, Ruchita and Keating, Sarah and Kingdom, John and Weksberg, Rosanna
Developmental Biology, ISSN 0012-1606, 2008, Volume 320, Issue 1, pp. 79 - 91
Imprinted genes are known to be crucial for placental development and fetal growth in mammals, but no primary epigenetic abnormality in placenta has been... 
CDKN1C | H19 | Placenta | Intrauterine growth restriction (IUGR) | Imprinting | KCNQ1OT1 | IGF2 | Small for gestational age (SGA) | PHLDA2 | intrauterine growth restriction (IUGR) | 2-DOMAIN HYPOTHESIS | SILVER-RUSSELL-SYNDROME | imprinting | DISTAL CHROMOSOME-7 | BIRTH-WEIGHT | MATERNAL-BEHAVIOR | DEVELOPMENTAL BIOLOGY | SPIRAL ARTERIES | h 19 | FETAL-GROWTH RESTRICTION | ENHANCER-BLOCKING ACTIVITY | BECKWITH-WIEDEMANN-SYNDROME | small for gestational age (SGA) | placenta | HUMAN-CHROMOSOME 11P15.5 | Blotting, Southern | Humans | RNA, Messenger - genetics | Chromosomes, Human, Pair 11 - genetics | Organ Specificity | RNA, Messenger - metabolism | Sequence Analysis, DNA | Fetal Growth Retardation - pathology | Insulin-Like Growth Factor II - metabolism | Genomic Imprinting - genetics | Placenta - metabolism | Pregnancy | DNA Methylation | Infant, Small for Gestational Age - blood | Insulin-Like Growth Factor II - genetics | Infant, Small for Gestational Age - metabolism | Gene Expression Regulation, Developmental | Alleles | Placenta - pathology | Female | Infant, Newborn | Genetic research | Gene expression | Methylation | Analysis | Index Medicus
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10. Full Text Clinical application of massively parallel sequencing‐based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11 105 pregnancies with mixed risk factors
by Dan, Shan and Wang, Wei and Ren, Jinghui and Li, Yali and Hu, Hua and Xu, Zhengfeng and Lau, Tze Kin and Xie, Jianhong and Zhao, Weihua and Huang, Hefeng and Xie, Jiansheng and Sun, Luming and Zhang, Xiaohong and Wang, Weipeng and Liao, Shixiu and Qiang, Rong and Cao, Jiangxia and Zhang, Qiufang and Zhou, Yulin and Zhu, Haiyan and Zhong, Mei and Guo, Yi and Lin, Linhua and Gao, Zhiying and Yao, Hong and Zhang, Hongyun and Zhao, Lijian and Jiang, Fuman and Chen, Fang and Jiang, Hui and Li, Songgang and Li, Yingrui and Wang, Jun and Wang, Jian and Duan, Tao and Su, Yue and Zhang, Xiuqing
Prenatal Diagnosis, ISSN 0197-3851, 12/2012, Volume 32, Issue 13, pp. 1225 - 1232
Objective To report the performance of massively parallel sequencing (MPS) based prenatal noninvasive fetal trisomy test based on cell-free DNA sequencing from... 
DIAGNOSIS | POPULATION | MATERNAL PLASMA | DNA | DOWN-SYNDROME | GENETICS & HEREDITY | CHROMOSOMAL-ABNORMALITIES | ANEUPLOIDY DETECTION | OBSTETRICS & GYNECOLOGY | Prospective Studies | Humans | Middle Aged | Down Syndrome - epidemiology | Workflow | China - epidemiology | False Positive Reactions | Maternal Serum Screening Tests | Sequence Analysis, DNA | Pregnancy | Young Adult | Trisomy - diagnosis | Chromosomes, Human, Pair 18 | Sensitivity and Specificity | Adolescent | Adult | Female | High-Throughput Nucleotide Sequencing | Down Syndrome - diagnosis | Index Medicus
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