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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
2008, ISBN 0300105029, xxiv, 253
When Phebe Hedges, a woman in East Hampton, New York, walked into the sea in 1806, she made visible the historical experience of a family affected by the... 
Huntington Disease | New York | Public Health | Huntington’s chorea | History, 20th Century | Huntington, George, 1850–1916 | New York (State) | Eugenics | Muncey, E. B | History | 20th century | Hedges, Phebe, 1764–1806 | History, 19th Century | 19th century | Hedges, Phebe | 1764-1806 | Huntington's chorea | 1850-1916 | Huntington, George
Book
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 45, xvi, 558
Book
1992, ISBN 0520077784, vi, 430
Book
1989, ISBN 9780443082429, xi, 476
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