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1953, Medical Research Council Special Report Series, no. 278, 385
Book
2004, ISBN 9781402028977, xvii, 288
"Neuroacanthocytosis Syndromes" is the first comprehensive review of a field that has not yet received the attention it deserves. Affecting the brain as well... 
Brain | Clinical & internal medicine | Molecular aspects | Erythrocytes | Diseases | Human Genetics | Neurosciences | Biomedicine
Book
Gastroenterology, ISSN 0016-5085, 2015, Volume 149, Issue 4, pp. 1017 - 1029.e3
Background & Aims Patients with bi-allelic germline mutations in mismatch repair (MMR) genes ( MLH1 , MSH2 , MSH6 , or PMS2 ) develop a rare but severe variant... 
Gastroenterology and Hepatology | Tumor | Colon Cancer | Predisposition | Functional Tests | SYSTEM | CELLS | BIALLELIC MUTATIONS | SOMATIC MUTATIONS | HEREDITARY | COLORECTAL-CANCER | PMS2 | MSH6 MUTATIONS | GASTROENTEROLOGY & HEPATOLOGY | GOLD STANDARD | NEUROFIBROMATOSIS TYPE-1 | MutL Protein Homolog 1 | Predictive Value of Tests | Colorectal Neoplasms - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - pathology | Humans | Drug Resistance, Neoplasm | Male | Neoplastic Syndromes, Hereditary - metabolism | Colorectal Neoplasms - diagnosis | Young Adult | DNA Mutational Analysis | Colorectal Neoplasms - drug therapy | Germ-Line Mutation | Mismatch Repair Endonuclease PMS2 | Neoplastic Syndromes, Hereditary - genetics | Caco-2 Cells | Lymphocytes - metabolism | Genetic Predisposition to Disease | Colorectal Neoplasms, Hereditary Nonpolyposis - drug therapy | Brain Neoplasms - diagnosis | HCT116 Cells | Brain Neoplasms - genetics | Neoplastic Syndromes, Hereditary - diagnosis | Heredity | MutS Homolog 2 Protein - genetics | Brain Neoplasms - drug therapy | Multiplex Polymerase Chain Reaction | Antineoplastic Agents, Alkylating - therapeutic use | Colorectal Neoplasms, Hereditary Nonpolyposis - metabolism | Phenotype | Adenosine Triphosphatases - genetics | Biomarkers, Tumor - genetics | Neoplastic Syndromes, Hereditary - drug therapy | Microsatellite Instability | Neoplastic Syndromes, Hereditary - pathology | Brain Neoplasms - pathology | DNA Repair Enzymes - genetics | Genetic Testing - methods | Brain Neoplasms - metabolism | Case-Control Studies | Transfection | Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis | Adult | Female | Nuclear Proteins - genetics | Colorectal Neoplasms - metabolism | Reproducibility of Results | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | DNA-Binding Proteins - genetics | Lymphocytes - drug effects | Adaptor Proteins, Signal Transducing - genetics | Colorectal Neoplasms - pathology | Methylation | Lymphomas | Diagnosis | Gene mutations | Lymphocytes | Leukemia | Colorectal cancer | Index Medicus | Abridged Index Medicus
Journal Article
Nature communications, ISSN 2041-1723, 05/2018, Volume 9, Issue 1, p. 1864
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide... 
Lumican - metabolism | Glaucoma, Open-Angle - genetics | Humans | Corneal Diseases - metabolism | Corneal Dystrophies, Hereditary - ethnology | Corneal Diseases - genetics | Ehlers-Danlos Syndrome - genetics | Corneal Dystrophies, Hereditary - pathology | Loeys-Dietz Syndrome - metabolism | Mendelian Randomization Analysis | Fibrillin-1 - metabolism | Cornea - pathology | Keratoconus - pathology | Corneal Diseases - pathology | Decorin - genetics | Gene Expression | Eye Diseases, Hereditary - pathology | Lumican - genetics | ADAMTS Proteins - metabolism | Proteoglycans - metabolism | Ehlers-Danlos Syndrome - ethnology | European Continental Ancestry Group | Myopia - pathology | Cornea - metabolism | Myopia - ethnology | Loeys-Dietz Syndrome - pathology | Corneal Diseases - ethnology | Marfan Syndrome - metabolism | Marfan Syndrome - pathology | Cornea - abnormalities | Quantitative Trait Loci | Proteoglycans - genetics | ADAMTS Proteins - genetics | Transforming Growth Factor beta2 - metabolism | Corneal Dystrophies, Hereditary - genetics | Glaucoma, Open-Angle - pathology | Keratoconus - metabolism | Loeys-Dietz Syndrome - ethnology | Glaucoma, Open-Angle - ethnology | Myopia - metabolism | Ehlers-Danlos Syndrome - pathology | Marfan Syndrome - ethnology | Keratoconus - genetics | Glaucoma, Open-Angle - metabolism | Fibrillin-1 - genetics | Eye Diseases, Hereditary - ethnology | Genome-Wide Association Study | Quantitative Trait, Heritable | Corneal Dystrophies, Hereditary - metabolism | Marfan Syndrome - genetics | Eye Diseases, Hereditary - genetics | Myopia - genetics | Asian Continental Ancestry Group | Keratoconus - ethnology | Ehlers-Danlos Syndrome - metabolism | Loeys-Dietz Syndrome - genetics | Polymorphism, Single Nucleotide | Transforming Growth Factor beta2 - genetics | Genome, Human | Decorin - metabolism | Eye Diseases, Hereditary - metabolism | Cornea | Decorin | Corneal Dystrophies, Hereditary | Myopia | Corneal Diseases | Marfan Syndrome | Keratoconus | ADAMTS Proteins | Lumican | Transforming Growth Factor beta2 | Ehlers-Danlos Syndrome | Glaucoma, Open-Angle | Fibrillin-1 | Eye Diseases, Hereditary | Proteoglycans | Wellcome Trust Case Control Consortium 2 (WTCCC2) | Blue Mountains Eye Study—GWAS group | Loeys-Dietz Syndrome | NEIGHBORHOOD Consortium
Journal Article
2000, 2nd ed. rev., ISBN 0323012531, xii, 372
Book
The American Journal of Surgical Pathology, ISSN 0147-5185, 03/2017, Volume 41, Issue 3, pp. 326 - 333
Mismatch repair (MMR)-deficient endometrial carcinomas (ECs) bearing Lynch syndrome (LS)-associated germline mutations or sporadic MLH1 promoter... 
PD-L1 | mismatch repair | endometrial carcinoma | MLH1 hypermethylation | immunotherapy | Lynch syndrome | SURGERY | MICROSATELLITE INSTABILITY | INFILTRATING LYMPHOCYTES | IMMUNOSCORE | PATHOLOGY | LUNG-CANCER | PROGNOSTIC-FACTOR | IMMUNE-SYSTEM | MICROENVIRONMENT | COLORECTAL-CANCER | BLOCKADE | Immunohistochemistry | Neoplastic Syndromes, Hereditary - pathology | Prognosis | Follow-Up Studies | Endometrial Neoplasms - mortality | Colorectal Neoplasms - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - pathology | Humans | Middle Aged | Brain Neoplasms - pathology | Endometrial Neoplasms - metabolism | Gene Expression Regulation, Neoplastic | Neoplastic Syndromes, Hereditary - metabolism | Brain Neoplasms - metabolism | Neoplastic Syndromes, Hereditary - mortality | Colorectal Neoplasms, Hereditary Nonpolyposis - mortality | DNA Methylation | Endometrial Neoplasms - genetics | DNA Mismatch Repair | Biomarkers, Tumor - metabolism | Female | Neoplastic Syndromes, Hereditary - genetics | Brain Neoplasms - mortality | Colorectal Neoplasms - metabolism | Colorectal Neoplasms - mortality | Promoter Regions, Genetic | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Brain Neoplasms - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - metabolism | B7-H1 Antigen - metabolism | MutL Protein Homolog 1 - genetics | Endometrial Neoplasms - pathology | Aged | Biomarkers, Tumor - genetics | Colorectal Neoplasms - pathology | Index Medicus
Journal Article
2002, 3rd ed., Oxford monographs on medical genetics, ISBN 0198510608, Volume no. 45., xvi, 558
Book
1992, ISBN 0520077784, vi, 430
Book
by Iglesias, Adriana I and Mishra, Aniket and Vitart, Veronique and Bykhovskaya, Yelena and Höhn, René and Springelkamp, Henriët and Cuellar-Partida, Gabriel and Gharahkhani, Puya and Bailey, Jessica N. Cooke and Willoughby, Colin E and Li, Xiaohui and Yazar, Seyhan and Nag, Abhishek and Khawaja, Anthony P and Polašek, Ozren and Siscovick, David and Mitchell, Paul and Tham, Yih Chung and Haines, Jonathan L and Kearns, Lisa S and Hayward, Caroline and Shi, Yuan and Van Leeuwen, Elisabeth M and Taylor, Kent D and Wang, Jie Jin and Rochtchina, Elena and Attia, John and Scott, Rodney and Holliday, Elizabeth G and Baird, Paul N and Xie, Jing and Inouye, Michael and Viswanathan, Ananth and Sim, Xueling and Bonnemaijer, Pieter and Rotter, Jerome I and Martin, Nicholas G and Zeller, Tanja and Mills, Richard A and Staffieri, Sandra E and Jonas, Jost B and Schmidtmann, Irene and Boutin, Thibaud and Kang, Jae H and Lucas, Sionne E. M and Wong, Tien Yin and Beutel, Manfred E and Wilson, James F and Allingham, R. Rand and Brilliant, Murray H and Budenz, Donald L and Christen, William G and Fingert, John and Friedman, David S and Gaasterland, Douglas and Gaasterland, Terry and Hauser, Michael A and Kraft, Peter and Lee, Richard K and Lichter, Paul R and Liu, Yutao and Loomis, Stephanie J and Moroi, Sayoko E and Pericak-Vance, Margaret A and Realini, Anthony and Richards, Julia E and Schuman, Joel S and Scott, William K and Singh, Kuldev and Sit, Arthur J and Vollrath, Douglas and Weinreb, Robert N and Wollstein, Gadi and Zack, Donald J and Zhang, Kang and Donnelly, Peter and Barroso, Ines and Blackwell, Jenefer M and Bramon, Elvira and Brown, Matthew A and Casas, Juan P and Corvin, Aiden and Deloukas, Panos and Duncanson, Audrey and Jankowski, Janusz and Markus, Hugh S and Mathew, Christopher G and Palmer, Colin N. A and Plomin, Robert and Rautanen, Anna and Sawcer, Stephen J and Trembath, Richard C and Wood, Nicholas W and Spencer, Chris C. A and Band, Gavin and Bellenguez, Céline and Freeman, Colin and Hellenthal, Garrett and Giannoulatou, Eleni and Pirinen, Matti and ... and Blue Mountains Eye Study-GWAS Grp and NEIGHBORHOOD Consortium and Wellcome Trust Case Control Consor and Blue Mountains Eye Study—GWAS group and Wellcome Trust Case Control Consortium 2 (WTCCC2)
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1 - 11
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide... 
DECORIN | CHROMATIN STATES | POLYMORPHISMS | RISK-FACTOR | MULTIDISCIPLINARY SCIENCES | MOUSE | GENE-EXPRESSION | MUTATIONS | HERITABILITY | LUMICAN | KERATOCONUS | Glaucoma | Cornea | Genes | Myopia | Association analysis | Genomes | Gene expression | Tissues | Connective tissues | Keratoconus | Collagen | Eye diseases | Extracellular matrix | Index Medicus
Journal Article
Journal Article
Clinical Genetics, ISSN 0009-9163, 07/2016, Volume 90, Issue 1, pp. 55 - 62
Patients with germline mutations in SMAD4 can present symptoms of both juvenile polyposis syndrome ( JPS ) and hereditary hemorrhagic telangiectasia ( HHT ):... 
juvenile polyposis syndrome | melena | Smad4‐related juvenile polyposis | Osler–Rendu disease | hereditary hemorrhagic telangiectasia | Smad4 protein | epistaxis | Epistaxis | Melena | Juvenile polyposis syndrome | Osler-Rendu disease | Hereditary hemorrhagic telangiectasia | Smad4-related juvenile polyposis | MANAGEMENT | RISK | PULMONARY ARTERIOVENOUS-MALFORMATIONS | PREVALENCE | AORTOPATHY | COLORECTAL-CANCER | GENETICS & HEREDITY | UPDATE | BMPR1A | Humans | Middle Aged | Male | Neoplastic Syndromes, Hereditary - surgery | Intestinal Polyposis - diagnosis | Telangiectasia, Hereditary Hemorrhagic - genetics | Aorta - metabolism | Intestinal Polyposis - congenital | Telangiectasia, Hereditary Hemorrhagic - diagnosis | Telangiectasia, Hereditary Hemorrhagic - surgery | Smad4 Protein - genetics | Adult | Female | Registries | Neoplastic Syndromes, Hereditary - genetics | Retrospective Studies | Telangiectasia, Hereditary Hemorrhagic - complications | Gene Expression | Intestinal Polyposis - genetics | Neoplastic Syndromes, Hereditary - diagnosis | Aorta - pathology | Phenotype | Intestinal Polyposis - complications | Adolescent | Denmark | Neoplastic Syndromes, Hereditary - complications | Heterozygote | Aged | Mutation | Intestinal Polyposis - surgery | Genetic research | Genetic aspects | Genotype & phenotype | Genetic disorders | Index Medicus
Journal Article