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1. Full Text Variant haploinsufficiency and phenotypic non‐penetrance in PRPF31‐associated retinitis pigmentosa
by Rose, A.M and Bhattacharya, S.S
Clinical genetics, ISSN 0009-9163, 08/2016, Volume 90, Issue 2, pp. 118 - 126
incomplete penetrance | phenotype | repeat elements | MSR1 | retinal degeneration | epistasis | retinitis pigmentosa | PRPF31 | non‐penetrance | Phenotype | Non-penetrance | Repeat elements | Retinitis pigmentosa | Incomplete penetrance | Retinal degeneration | Epistasis | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Gene Expression Profiling | Retinal Rod Photoreceptor Cells - metabolism | Retinal Cone Photoreceptor Cells - pathology | Cell Death | Scavenger Receptors, Class A - genetics | Eye Proteins - genetics | Promoter Regions, Genetic | Signal Transduction | Gene Frequency | Gene Expression Regulation | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - metabolism | Penetrance | Transcription Factors - genetics | Haploinsufficiency | Transcription Factors - metabolism | Chromosomes, Human, Pair 19 | Eye Proteins - metabolism | Pedigree | Alleles | Mutation | Retinal Cone Photoreceptor Cells - metabolism | Retinitis Pigmentosa - pathology | Retinal Rod Photoreceptor Cells - pathology | Scavenger Receptors, Class A - metabolism | Eye diseases | Genetic disorders | Index Medicus
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2. Full Text Utilization of multigene panels in hereditary cancer predisposition testing: Analysis of more than 2,000 patients
by Laduca, Holly and Stuenkel, A.J and Dolinsky, Jill S and Keiles, Steven and Tandy, Stephany and Pesaran, Tina and Chen, Elaine and Gau, Chia-Ling and Palmaer, Erika and Shoaepour, Kamelia and Shah, Divya and Speare, Virginia and Gandomi, Stephanie and Chao, Elizabeth
Genetics in medicine, ISSN 1098-3600, 11/2014, Volume 16, Issue 11, pp. 830 - 837
targeted panels | moderate-penetrance genes | hereditary cancer | next-generation sequencing | multigene panels | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Humans | Middle Aged | Neoplastic Syndromes, Hereditary - diagnosis | Male | Penetrance | Genetic Testing - methods | Sequence Analysis, DNA | Genetic Variation | Germ-Line Mutation | Adult | Female | Aged | High-Throughput Nucleotide Sequencing | Neoplastic Syndromes, Hereditary - genetics | Index Medicus | Original
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3. Full Text Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy
by Giordano, Carla and Iommarini, Luisa and Giordano, Luca and Maresca, Alessandra and Pisano, Annalinda and Valentino, Maria Lucia and Caporali, Leonardo and Liguori, Rocco and Deceglie, Stefania and Roberti, Marina and Fanelli, Francesca and Fracasso, Flavio and Ross-Cisneros, Fred N and D'adamo, Pio and Hudson, Gavin and Pyle, Angela and Yu-Wai-Man, Patrick and Chinnery, Patrick F and Zeviani, Massimo and Salomao, Solange R and Berezovsky, Adriana and Belfort, Rubens and Ventura, Dora Fix and Moraes, Milton and Moraes Filho, Milton and Barboni, Piero and Sadun, Federico and De Negri, Annamaria and Sadun, Alfredo A and Tancredi, Andrea and Mancini, Massimiliano and D'amati, Giulia and Loguercio Polosa, Paola and Cantatore, Palmiro and Carelli, Valerio
Brain (London, England : 1878), ISSN 0006-8950, 2014, Volume 137, Issue 2, pp. 335 - 353
mitochondrial biogenesis | mtDNA copy number | LHON penetrance | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction | Neurology | Biological and medical sciences | Medical sciences | Nervous system (semeiology, syndromes) | Humans | Middle Aged | Male | Optic Atrophy, Hereditary, Leber - genetics | Penetrance | Young Adult | DNA, Mitochondrial - genetics | Pedigree | Adolescent | Aged, 80 and over | Adult | Female | Aged | Mitochondrial Turnover - genetics | Optic Atrophy, Hereditary, Leber - diagnosis | Index Medicus | Abridged Index Medicus | Original
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4. Full Text Reply to: “Challenges in understanding the consequences of variants in ABCB4 gene”
by Stättermayer, Albert F and Ferenci, Peter and Trauner, Michael
Journal of hepatology, ISSN 0168-8278, 01/2021, Volume 74, Issue 1, pp. 244 - 245
Genotype | Penetrance | Phenotype | MDR3 | ABCB4 | Cholestasis | Index Medicus
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5. Full Text Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy
by Ricci, Giulia and Scionti, Isabella and Sera, Francesco and Govi, Monica and D'Amico, Roberto and Frambolli, Ilaria and Mele, Fabiano and Filosto, Massimiliano and Vercelli, Liliana and Ruggiero, Lucia and Berardinelli, Angela and Angelini, Corrado and Antonini, Giovanni and Bucci, Elisabetta and Cao, Michelangelo and Daolio, Jessica and Di Muzio, Antonio and Di Leo, Rita and Galluzzi, Giuliana and Iannaccone, Elisabetta and Maggi, Lorenzo and Maruotti, Valerio and Moggio, Maurizio and Mongini, Tiziana and Morandi, Lucia and Nikolic, Ana and Pastorello, Ebe and Ricci, Enzo and Rodolico, Carmelo and Santoro, Lucio and Servida, Maura and Siciliano, Gabriele and Tomelleri, Giuliano and Tupler, Rossella
Brain (London, England : 1878), ISSN 0006-8950, 2013, Volume 136, Issue 11, pp. 3408 - 3417
Facioscapulohumeral muscular dystrophy | Genotype-phenotype correlations | Penetrance | D4Z4 reduced allele | Disease expression | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Chromosome Deletion | Muscular Dystrophy, Facioscapulohumeral - physiopathology | Genetic Predisposition to Disease - genetics | Prognosis | Humans | Middle Aged | Genetic Association Studies - methods | Male | Muscular Dystrophy, Facioscapulohumeral - genetics | Chromosomes, Human, Pair 4 - genetics | Homeodomain Proteins - genetics | Young Adult | Haplotypes - genetics | Pedigree | Adolescent | Adult | Female | Registries | Aged | Chromosome Disorders - physiopathology | Chromosome Disorders - genetics | Index Medicus | Abridged Index Medicus | Age | disease expression | facioscapulohumeral muscular dystrophy | Original | genotype–phenotype correlations | penetrance
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6. Full Text Rare genetic variant in SORL1 may increase penetrance of Alzheimer's disease in a family with several generations of APOE-ϵ4 homozygosity
by Louwersheimer, Eva and Cohn-Hokke, P and Pijnenburg, Yolande and Weiss, Marjan and Sistermans, Erik and Rozemuller, Annemieke and Hulsman, Marc and Swieten, John and Duijn, Cornelia and Barkhof, Frederik and Koenei, T and Scheltens, Philip and Van DerFlier, W.M and Holstege, Henne
Journal of Alzheimer's disease, ISSN 1387-2877, 01/2017, Volume 56, Issue 1, pp. 63 - 74
Genetics | Penetrance | APOE | Alzheimer's disease | SORL1
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7. Full Text Clinical interpretation of PRSS1 variants in patients with pancreatitis
by Girodon, Emmanuelle and Rebours, Vinciane and Chen, Jian Min and Pagin, Adrien and Levy, Philippe and Ferec, Claude and Bienvenu, Thierry
Clinics and research in hepatology and gastroenterology, ISSN 2210-7401, 11/2020, pp. 101497 - 101497
Index Medicus
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8. Full Text Advantages of brain penetrating inhibitors of kynurenine-3-monooxygenase for treatment of neurodegenerative diseases
by Zhang, Shaowei and Collier, Mary E.W and Heyes, Derren J and Giorgini, Flaviano and Scrutton, Nigel S
Archives of biochemistry and biophysics, ISSN 0003-9861, 01/2021, Volume 697, pp. 108702 - 108702
Neurodegenerative disease | Kynurenine-3-monooxygenase | Brain penetrance | Inhibitor | Prodrug | Index Medicus
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9. Full Text ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
by Green, Robert C and Berg, Jonathan S and Grody, Wayne W and Kalia, Sarah S and Korf, Bruce R and Martin, Christa L and McGuire, Amy L and Nussbaum, Robert L and O'Daniel, Julianne M and Ormond, Kelly E and Rehm, Heidi L and Watson, Michael S and Williams, Marc S and Biesecker, Leslie G and American College of Medical Genetics and Genomics
Genetics in medicine, ISSN 1098-3600, 2013, Volume 15, Issue 7, pp. 565 - 574
genome | genomic medicine | whole exome | whole genome | incidental findings | secondary findings | personalized medicine | sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exome | Genetics, Medical | Humans | Incidental Findings | Penetrance | Patient Preference | Genome, Human | Index Medicus | whole-genome | whole-exome
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10. Full Text Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease
by Chen, Brenden and Solis‐Villa, Constanza and Hakenberg, Jörg and Qiao, Wanqiong and Srinivasan, Ramakrishnan R and Yasuda, Makiko and Balwani, Manisha and Doheny, Dana and Peter, Inga and Chen, Rong and Desnick, Robert J
Human mutation, ISSN 1059-7794, 11/2016, Volume 37, Issue 11, pp. 1215 - 1222
in silico prediction | disease penetrance | in vitro expression | allele frequency | allele prevalence | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Variation | European Continental Ancestry Group - genetics | Computer Simulation | Gene Frequency | Humans | Porphyria, Acute Intermittent - genetics | Female | Male | Penetrance | Porphyria, Acute Intermittent - ethnology | Sequence Analysis, DNA | Porphyria | Career development | Enzymes | Medical research | Algorithms | Gene mutations | Medicine, Experimental | Genes | Mutation | Index Medicus
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11. Full Text Clinical interpretation of PRSS1 gene variants in patients with pancreatitis
by Girodon, Emmanuelle and Rebours, Vinciane and Chen, Jian Min and Pagin, Adrien and Levy, Philippe and Ferec, Claude and Bienvenu, Thierry
Clinics and research in hepatology and gastroenterology, ISSN 2210-7401, 2020
PRSS1 | Pancreatitis | Variant classification | Penetrance | Hereditary pancreatitis
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