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Journal of Clinical Endocrinology and Metabolism, ISSN 0021-972X, 02/2018, Volume 103, Issue 2, pp. 438 - 445
Context: Paraganglioma (PGL) has the highest degree of heritability among human neoplasms. Current clinical understanding of germline SDHA mutation carriers is... 
HEAD | MUTATIONS | SOCIETY | GENES | ENDOCRINOLOGY & METABOLISM | Head | Pheochromocytoma | Genes | Paraganglioma | Patients | Genetic screening | Neoplasms | Confidence intervals | Clinical aspects | Genetic counseling | Head and neck | Hormone replacement therapy | Heritability | Neck | Mutation | Age | Index Medicus | Abridged Index Medicus
Journal Article
GENES CHROMOSOMES & CANCER, ISSN 1045-2257, 08/2005, Volume 43, Issue 4, pp. 377 - 382
The CHEK2 1100delC mutation was recently identified as a low-penetrance breast cancer susceptibility allele. The mutation occurred more frequently in families... 
BREAST-CANCER | ONCOLOGY | HIGH-RISK | FAMILIES | SUSCEPTIBILITY | GENES | GENETICS & HEREDITY | BRCA1 | VARIANT | CHEK2-ASTERISK-1100DELC | Genetic Predisposition to Disease | Colorectal Neoplasms - genetics | Gene Frequency | Humans | Middle Aged | Protein-Serine-Threonine Kinases - genetics | Checkpoint Kinase 2 | Female | Male | Risk | Mutation | Index Medicus
Journal Article
by Travaglini, Lorena and Brancati, Francesco and Silhavy, Jennifer and Iannicelli, Miriam and Nickerson, Elizabeth and Elkhartoufi, Nadia and Scott, Eric and Spencer, Emily and Gabriel, Stacey and Thomas, Sophie and Ben-Zeev, Bruria and Bertini, Enrico and Boltshauser, Eugen and Chaouch, Malika and Cilio, Maria Roberta and de Jong, Mirjam M and Kayserili, Hulya and Ogur, Gonul and Poretti, Anea and Signorini, Sabrina and Uziel, Graziella and Zaki, Maha S and Johnson, Colin and Attié-Bitach, Tania and Gleeson, Joseph G and Valente, Enza Maria and Ali Pacha, L and Zankl, A and Leventer, R and Grattan-Smith, P and Janecke, A and Koch, J and Freilinger, M and D'Hooghe, M and Sznajer, Y and Vilain, C and van Coster, R and Demerleir, L and Dias, K and Moco, C and Moreira, A and Ae Kim, C and Maegawa, G and Dakovic, I and Loncarevic, D and Mejaski-Bosnjak, V and Petkovic, D and Abdel-Salam, G. M. H and Abdel-Aleem, A and Marti, I and Pinard, J. M and Quijano-Roy, S and Sigaudy, S and de Lonlay, P and Romano, S and Verloes, A and Touraine, R and Koenig, M and Dollfus, H and Flori, E and Fradin, M and Lagier-Tourenne, C and Messer, J and Collignon, P and Penzien, J. M and Bussmann, C and Merkenschlager, A and Philippi, H and Kurlemann, G and Grundmann, K and Dacou-Voutetakis, C and Kitsiou Tzeli, S and Pons, R and Jerney, J and Halldorsson, S and Johannsdottir, J and Ludvigsson, P and Phadke, S. R and Girisha, K. M and Doshi, H and Udani, V and Kaul, M and Stuart, B and Magee, A and Spiegel, R and Shalev, S and Mandel, H and Lev, D and Michelson, M and Idit, M and Ben-Zeev, B and Gershoni-Baruch, R and Ficcadenti, A and Fischetto, R and Gentile, M and Della Monica, M and Pezzani, M and Graziano, C and Seri, M and Benedicenti, F and ... and Int JSRD Study Grp and International JSRD Study Group and the International JSRD Study Group
European journal of human genetics, ISSN 1018-4813, 2013, Volume 21, Issue 10, pp. 1074 - 1078
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2007, Volume 81, Issue 1, pp. 104 - 113
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2013, Volume 21, Issue 10, pp. 1074 - 1078
Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies sharing a peculiar midbrain-hindbrain malformation... 
Journal Article
European Journal of Human Genetics, ISSN 1476-5438, 10/2013, Volume 21, Issue 10, p. 8
Journal Article
Hereditary cancer in clinical practice, ISSN 1731-2302, 06/2007, Volume 5, Issue 2, pp. 72 - 78
Multiple myeloma (MM) is a relatively rare haematological malignancy seen in older persons. It has an unknown aetiology and usually occurs incidentally within... 
Screening | Familial | Multiple myeloma | familial | multiple myeloma | screening | ONCOLOGY | DISEASE | UNDETERMINED SIGNIFICANCE | SIBLINGS | RISK | MONOCLONAL GAMMOPATHY | LEUKEMIA | CANCER | Case studies | Care and treatment | Pedigree analysis | Patient outcomes | Genetic aspects | Diagnosis | Risk factors | Methods
Journal Article
Journal Article
American Journal of Ophthalmology Case Reports, ISSN 2451-9936, 09/2019, Volume 15, p. 100472
Only an endophytic growth pattern in juxtapapillary retinal hemangioblastoma (JRH) is an indication for surgical treatment, but classification of growth types... 
Sessile | Doppler OCT | Intravitreal bevacizumab | Optical coherence tomography angiography | Juxtapapillary retinal hemangioblastoma
Journal Article