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1. Full Text Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis
by Sparks, Teresa N and Lianoglou, Billie R and Adami, Rebecca R and Pluym, Ilina D and Holliman, Kerry and Duffy, Jennifer and Downum, Sarah L and Patel, Sachi and Faubel, Amanda and Boe, Nina M and Field, Nancy T and Murphy, Aisling and Laurent, Louise C and Jolley, Jennifer and Uy, Cherry and Slavotinek, Anne M and Devine, Patrick and Hodoglugil, Ugur and Van Ziffle, Jessica and Sanders, Stephan J and MacKenzie, Tippi C and Norton, Mary E and Univ Calif San Francisco Ctr Mate and Univ Calif Fetal Maternal
The New England journal of medicine, ISSN 0028-4793, 10/2020, Volume 383, Issue 18, pp. 1746 - 1756
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Usage | Genetic aspects | Diagnosis | Hydrops fetalis | Exome sequencing | Inborn errors of metabolism | Prognosis | Laboratories | Stillbirth | Pleural effusion | Neurodevelopmental disorders | Genetic screening | Consortia | Signal transduction | Precision medicine | Consent | Collections | Informatics | Deoxyribonucleic acid--DNA | Edema | Amniocentesis | Genetic disorders | Fetuses | MAP kinase | Births | Heredity | Pregnancy | Babies | Genetic variance | Pathology | Prenatal diagnosis | Ascites | Index Medicus | Abridged Index Medicus
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2. Full Text The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
by Mallick, Swapan and Li, Heng and Lipson, Mark and Mathieson, Iain and Gymrek, Melissa and Racimo, Fernando and Zhao, Mengyao and Chennagiri, Niru and Nordenfelt, Susanne and Tandon, Arti and Skoglund, Pontus and Lazaridis, Iosif and Sankararaman, Sriram and Fu, Qiaomei and Rohland, Nadin and Renaud, Gabriel and Erlich, Yaniv and Willems, Thomas and Gallo, Carla and Spence, Jeffrey P and Song, Yun S and Poletti, Giovanni and Balloux, Francois and Van Driem, George and De Knijff, Peter and Romero, Irene Gallego and Jha, Aashish R and Behar, Doron M and Bravi, Claudio M and Capelli, Cristian and Hervig, Tor and Moreno-Estrada, Andres and Posukh, Olga L and Balanovska, Elena and Balanovsky, Oleg and Karachanak-Yankova, Sena and Sahakyan, Hovhannes and Toncheva, Draga and Yepiskoposyan, Levon and Tyler-Smith, Chris and Xue, Yali and Abdullah, M. Syafiq and Ruiz-Linares, Andres and Beall, Cynthia M and Di Rienzo, Anna and Jeong, Choongwon and Starikovskaya, Elena B and Metspalu, Ene and Parik, Jüri and Villems, Richard and Henn, Brenna M and Hodoglugil, Ugur and Mahley, Robert and Sajantila, Antti and Stamatoyannopoulos, George and Wee, Joseph T. S and Khusainova, Rita and Khusnutdinova, Elza and Litvinov, Sergey and Ayodo, George and Comas, David and Hammer, Michael F and Kivisild, Toomas and Klitz, William and Winkler, Cheryl A and Labuda, Damian and Bamshad, Michael and Jorde, Lynn B and Tishkoff, Sarah A and Watkins, W. Scott and Metspalu, Mait and Dryomov, Stanislav and Sukernik, Rem and Singh, Lalji and Thangaraj, Kumarasamy and Paäbo, Svante and Kelso, Janet and Patterson, Nick and Reich, David
Nature (London), ISSN 0028-0836, 2016, Volume 538, Issue 7624, pp. 201 - 206
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Genetic research | Genomes | Research | Biological diversity | Datasets | Demography | Population | Genetic diversity | Mutation | Hominids | Index Medicus | Genètica | Filogènia | Genoma humà | Genòmica
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3. Full Text Gender Differences in the Relationship of ENPP1/PC-1 Variants to Obesity in a Turkish Population
by Tanyolaç, Sinan and Mahley, Robert W and Hodoglugil, Uğur and Goldfine, Ira D
Obesity (Silver Spring, Md.), ISSN 1930-7381, 11/2008, Volume 16, Issue 11, pp. 2468 - 2471
Endocrinology & Metabolism | Life Sciences & Biomedicine | Nutrition & Dietetics | Science & Technology | Gene Frequency - genetics | Genetic Predisposition to Disease - genetics | Diabetes Mellitus, Type 2 - genetics | Humans | Middle Aged | Obesity - ethnology | Pyrophosphatases - genetics | Male | Phosphoric Diester Hydrolases - genetics | Sex Characteristics | Obesity - genetics | Haplotypes - genetics | Diabetes Mellitus, Type 2 - ethnology | Turkey | Adult | Female | Genetic Predisposition to Disease - ethnology | Genetic Variation - genetics | Index Medicus | ENPP1 | PC-1 | polymorphism | Turkish population | obesity
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4. Full Text A missense variant, p.(Ile269Asn), in MC4R as a secondary finding in a child with BCL11A-related intellectual disability
by Beleford, Daniah T and Van Ziffle, Jessica and Hodoglugil, Ugur and Slavotinek, Anne M
European journal of medical genetics, ISSN 1769-7212, 09/2020, Volume 63, Issue 9, pp. 103969 - 103969
MC4R | Obesity | Dias-Logan syndrome | Intellectual disability | BCL11A | Secondary findings | Developmental delay | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Medical genetics | Index Medicus
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5. Full Text Turkish Population Structure and Genetic Ancestry Reveal Relatedness among Eurasian Populations
by Hodoğlugil, Uğur and Mahley, Robert W
Annals of human genetics, ISSN 0003-4800, 03/2012, Volume 76, Issue 2, pp. 128 - 141
population genetics | ancestry | population structure | admixture | Human Genome Diversity Panel | Kyrgyz | Turks | Admixture | Ancestry | Population structure | Population genetics | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetics, Population | Asian Continental Ancestry Group | Turkey | Humans | European Continental Ancestry Group | Population Groups | Polymorphism, Single Nucleotide | Phylogeny | Emigration and Immigration | Genetic research | Universities and colleges | Analysis | Evolution | Population | Genealogy | Subpopulations | Genetic structure | Migration | Data processing | Genomes | Single-nucleotide polymorphism | Sampling | Genotypes | Index Medicus
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6. Full Text A polymorphism of HMGA1 is associated with increased risk of metabolic syndrome and related components
by Chiefari, Eusebio and Tanyolaç, Sinan and Iiritano, Stefania and Sciacqua, Angela and Capula, Carmelo and Arcidiacono, Biagio and Nocera, Aurora and Possidente, Katiuscia and Baudi, Francesco and Ventura, Valeria and Brunetti, Giuseppe and Brunetti, Francesco S and Vero, Raffaella and Maio, Raffaele and Greco, Manfredi and Pavia, Maria and Hodoglugil, Ugur and Durlach, Vincent and Pullinger, Clive R and Goldfine, Ira D and Perticone, Francesco and Foti, Daniela and Brunetti, Antonio
Scientific reports, ISSN 2045-2322, 2013, Volume 3, Issue 1, pp. 1491 - 1491
Genetic Predisposition to Disease | HMGA1a Protein - genetics | Demography | Genetic Association Studies | Humans | Middle Aged | Risk Factors | Male | Case-Control Studies | Turkey | Metabolic Syndrome - genetics | Insulin Resistance - genetics | Polymorphism, Single Nucleotide - genetics | Female | Italy | Hyperglycemia | Diabetes mellitus | Metabolic syndrome | Insulin | Lipoproteins (high density) | Cholesterol | Metabolic disorders | Index Medicus
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7. Full Text PharmGKB summary: very important pharmacogene information for the epidermal growth factor receptor
by Hodoglugil, Ugur and Carrillo, Michelle W and Hebert, Joan M and Karachaliou, Niki and Rosell, Rafael C and Altman, Russ B and Klein, Teri E
Pharmacogenetics and genomics, ISSN 1744-6872, 11/2013, Volume 23, Issue 11, pp. 636 - 642
Erlotinib | Gefitinib | Tyrosine kinase inhibitor | Epidermal growth factor receptor | Pharmacogenomics | Pharmacology & Pharmacy | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Receptor, Epidermal Growth Factor - genetics | Pharmacogenetics | Prospective Studies | Antineoplastic Agents - antagonists & inhibitors | Carcinoma, Non-Small-Cell Lung - genetics | Humans | Antibodies, Monoclonal - therapeutic use | Antineoplastic Agents - therapeutic use | Molecular Targeted Therapy | Biomarkers, Tumor | Genetic Variation | Clinical Trials, Phase III as Topic | Drug Resistance, Neoplasm - genetics | Protein Kinase Inhibitors - therapeutic use | Polymorphism, Single Nucleotide | Carcinoma, Non-Small-Cell Lung - drug therapy | Index Medicus | gefitinib | pharmacogenomics | tyrosine kinase inhibitor | Epidermal growth factor receptor (EGFR) | erlotinib
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8. Full Text Polymorphisms in the hepatic lipase gene affect plasma HDL-cholesterol levels in a Turkish population
by Hodolugil, Uur and Williamson, David W and Mahley, Robert W
Journal of lipid research, ISSN 0022-2275, 02/2010, Volume 51, Issue 2, pp. 422 - 430
Lipoprotein metabolism | Heart disease risk | Single nucleotide polymorphisms | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Transcription Factors - metabolism | Turkey | Genomics | Humans | Cholesterol, HDL - blood | Adult | Female | Genotype | Male | Polymorphism, Single Nucleotide | Lipase - metabolism | Lipase - genetics | Index Medicus | Patient-Oriented and Epidemiological Research | single nucleotide polymorphisms | lipoprotein metabolism | heart disease risk
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9. Full Text Disruption of a novel krüppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus
by Bonnefond, Amélie and Lomberk, Gwen and Buttar, Navtej and Busiah, Kanetee and Vaillant, Emmanuel and Lobbens, Stéphane and Yengo, Loïc and Dechaume, Aurélie and Mignot, Brigitte and Simon, Albane and Scharfmann, Raphaël and Neve, Bernadette and Tanyolaç, Sinan and Hodoglugil, Ugur and Pattou, François and Cavé, Hélène and Iovanna, Juan and Stein, Roland and Polak, Michel and Vaxillaire, Martine and Froguel, Philippe and Urrutia, Raul
The Journal of biological chemistry, ISSN 0021-9258, 08/2011, Volume 286, Issue 32, pp. 28414 - 28424
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Diabetes Mellitus - genetics | Humans | Infant, Newborn, Diseases - pathology | Child, Preschool | Infant | Male | Insulin - biosynthesis | DNA-Binding Proteins - metabolism | Insulin-Secreting Cells - metabolism | Trans-Activators - genetics | Cell Cycle Proteins - genetics | Adult | Female | Infant, Newborn, Diseases - genetics | Response Elements - genetics | Insulin - genetics | Infant, Newborn | Repressor Proteins - metabolism | Cell Line | Cell Cycle Proteins - metabolism | Diabetes Mellitus - metabolism | Rats | Repressor Proteins - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mice, Knockout | Transcription Factors - metabolism | Animals | Apoptosis Regulatory Proteins | Trans-Activators - metabolism | Infant, Newborn, Diseases - metabolism | Mice | Mutagenesis, Insertional | Insulin-Secreting Cells - pathology | Index Medicus | Pancreatic Islet | Molecular Bases of Disease | Transcription Regulation | Genetic Diseases | KLF | Glucose Metabolism | Diabetes
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10. Full Text Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1
by Slavotinek, Anne and Pua, Heather and Hodoglugil, Ugur and Abadie, Jude and Shieh, Joseph and Van Ziffle, Jessica and Kvale, Mark and Lee, Hane and Kwok, Pui-Yan and Risch, Neil and Sabbadini, Marta
European journal of medical genetics, ISSN 1769-7212, 10/2017, Volume 60, Issue 10, pp. 504 - 508
Pierpont syndrome | Syndromic intellectual disability | WD40 repeat domain | TBL1XR1 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Repressor Proteins - chemistry | Muscle Hypotonia - genetics | Humans | Repressor Proteins - genetics | Male | Nuclear Proteins - metabolism | Developmental Disabilities - genetics | Receptors, Cytoplasmic and Nuclear - genetics | Mutation, Missense | Nuclear Proteins - chemistry | Syndrome | Muscle Hypotonia - diagnosis | Phenotype | Arnold-Chiari Malformation - diagnosis | Arnold-Chiari Malformation - genetics | Receptors, Cytoplasmic and Nuclear - chemistry | Protein Binding | Protein Domains | Nuclear Proteins - genetics | Child | Developmental Disabilities - diagnosis | Repressor Proteins - metabolism | Receptors, Cytoplasmic and Nuclear - metabolism | Medicine, Experimental | Autism | Medical research | Genetic aspects | Kidney diseases | Medical genetics | Index Medicus
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