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Nature Genetics, ISSN 1061-4036, 02/2011, Volume 43, Issue 4, pp. 321 - 329
Journal Article
Science, ISSN 0036-8075, 2/2011, Volume 331, Issue 6018, pp. 768 - 772
Endocrine tumors such as aldosterone-producing adrenal adenomas (APAs), a cause of severe hypertension, feature constitutive hormone production and... 
Depolarization | Hypertension | Somatic mutation | Cell growth | Hyperaldosteronism | REPORTS | Loss of heterozygosity | Adenoma | Genetic mutation | Sequencing | Tumors | REMEDIABLE ALDOSTERONISM | HUMAN BREAST | COLORECTAL CANCERS | ADRENOCORTICAL-CELLS | MULTIDISCIPLINARY SCIENCES | CONDUCTION | GLOMERULOSA CELLS | IDENTIFICATION | MOLECULAR-BASIS | SELECTIVITY | POTASSIUM CHANNEL | Adrenal Glands - pathology | Potassium - metabolism | Cell Proliferation | Humans | Hyperaldosteronism - pathology | Hyperplasia | Protein Multimerization | Zona Glomerulosa - pathology | Male | Hyperaldosteronism - metabolism | Sodium - metabolism | Aldosterone - metabolism | Adrenocortical Adenoma - genetics | G Protein-Coupled Inwardly-Rectifying Potassium Channels - metabolism | Female | Hypertension - genetics | Adrenal Cortex Neoplasms - metabolism | Cell Line | G Protein-Coupled Inwardly-Rectifying Potassium Channels - chemistry | Hyperaldosteronism - genetics | Mutant Proteins - genetics | Mutant Proteins - metabolism | Zona Glomerulosa - metabolism | Adrenal Cortex Neoplasms - pathology | G Protein-Coupled Inwardly-Rectifying Potassium Channels - genetics | Adrenocortical Adenoma - pathology | Adrenocortical Adenoma - metabolism | Hypertension - metabolism | Adrenal Cortex Neoplasms - genetics | Mutant Proteins - chemistry | Mutation | Medical and Health Sciences | MEDICINE | Medicin och hälsovetenskap | MEDICIN
Journal Article
Molecular Vision, ISSN 1090-0535, 01/2017, Volume 23, p. 695
Purpose: To describe in detail cases with an initial diagnosis of Leber congenital amaurosis that were later found to have a hemizygous mutation in the CACNA1F... 
Attention | Retina | Infants | Nyctalopia | Patients | Pigmentation | Genetic screening | Visual perception | Acuity | Electroretinograms | Next-generation sequencing | Blindness | Nystagmus | Retinal degeneration | Genetic testing | Children | Mutation | Diagnosis | Stationary night blindness
Journal Article
Ophthalmic plastic and reconstructive surgery, ISSN 0740-9303, 01/2019, Volume 35, Issue 1, pp. e16 - e18
A 69-year-old woman presented to the oculofacial plastic service with a painless superotemporal subconjunctival mass in the OS. Over the past year, the lesion... 
SURGERY | OPHTHALMOLOGY | LACRIMAL GLAND | CYSTS | FEATURES | Case studies | Usage | Care and treatment | Fibrinogen | Excision (Surgery) | Diagnosis | Dacryocystitis
Journal Article
Molecular Vision, ISSN 1090-0535, 10/2017, Volume 23, pp. 695 - 706
Purpose: To describe in detail cases with an initial diagnosis of Leber congenital amaurosis that were later found to have a hemizygous mutation in the CACNA1F... 
LEBER CONGENITAL AMAUROSIS | EYE DISEASE | MOLECULAR DIAGNOSIS | VISUAL FUNCTION | PHOTORECEPTOR | BIOCHEMISTRY & MOLECULAR BIOLOGY | BARDET-BIEDL-SYNDROME | OPHTHALMOLOGY | RPE65 MUTATIONS | RETINITIS-PIGMENTOSA | STATIONARY NIGHT BLINDNESS | DEGENERATION
Journal Article
Orbit (London), ISSN 0167-6830, 2019, pp. 1 - 3
A 5-year-old otherwise healthy girl presented to the oculoplastic service with a painless superotemporal subconjunctival mass in the left eye. Visual acuity... 
sporadic orbital mass | superotemporal mass | Dermolipoma | odontogenic choristoma | tooth-bearing lesion
Journal Article
Ophthalmic plastic and reconstructive surgery, 12/2018
A 69-year-old woman presented to the oculofacial plastic service with a painless superotemporal subconjunctival mass in the OS. Over the past year, the lesion... 
Journal Article
Journal Article
Journal of Hypertension, ISSN 0263-6352, 06/2004, Volume 22, Issue Suppl. 2, p. S199
Journal Article
Science (Washington), ISSN 0036-8075, 02/2011, Volume 331, Issue 6018, pp. 768 - 772
Endocrine tumors such as aldosterone-producing adrenal adenomas (APAs), a cause of severe hypertension, feature constitutive hormone production and... 
Journal Article
Science, ISSN 0036-8075, 02/2011, Volume 331, Issue 6018, p. 768
Endocrine tumors such as aldosterone-producing adrenal adenomas (APAs), a cause of severe hypertension, feature constitutive hormone production and... 
Hypertension | Sodium channels | Care and treatment | Gene mutations | Development and progression | Genetic aspects | Adenoma | Properties | Aldosterone | Identification and classification
Journal Article
Journal Article
Journal of Theoretical and Computational Chemistry, ISSN 0219-6336, 09/2007, Volume 6, Issue 3, pp. 595 - 609
The structure, stability, and properties of the hydrated clusters of calcium hydroxide, Ca(OH)(2)(H2O)(n), n = 1-6, were investigated using density functional... 
Metal ion solvation | Alkali earth metal dihydroxides | Quantum chemical study | Calcium hydroxide | Hydrated clusters | calcium hydroxide | quantum chemical study | MESOSPHERE | DEATH | CHEMISTRY, MULTIDISCIPLINARY | MOLECULES | alkali earth metal dihydroxides | DISSOLUTION | DYSREGULATION | DISEASE | CHEMISTRY | hydrated clusters
Journal Article
Revista médica de Chile, ISSN 0034-9887, 09/2012, Volume 140, Issue 9, pp. 1164 - 1169
Background: A better physical fitness may have survival advantages in adults. Aim: To analyze the relationship between cardiorespiratory fitness and... 
MEDICINE, GENERAL & INTERNAL
Journal Article
by Schumacher, Fredrick R and Al Olama, Ali Amin and Berndt, Sonja I and Benlloch, Sara and Ahmed, Mahbubl and Saunders, Edward J and Dadaev, Tokhir and Leongamornlert, Daniel and Anokian, Ezequiel and Cieza-Borrella, Clara and Goh, Chee and Brook, Mark N and Sheng, Xin and Fachal, Laura and Dennis, Joe and Tyrer, Jonathan and Muir, Kenneth and Lophatananon, Artitaya and Stevens, Victoria L and Gapstur, Susan M and Carter, Brian D and Tangen, Catherine M and Goodman, Phyllis J and Thompson, Ian M and Batra, Jyotsna and Chambers, Suzanne and Moya, Leire and Clements, Judith and Horvath, Lisa and Tilley, Wayne and Risbridger, Gail P and Gronberg, Henrik and Aly, Markus and Nordström, Tobias and Pharoah, Paul and Pashayan, Nora and Schleutker, Johanna and Tammela, Teuvo L. J and Sipeky, Csilla and Auvinen, Anssi and Albanes, Demetrius and Weinstein, Stephanie and Wolk, Alicja and Håkansson, Niclas and West, Catharine M. L and Dunning, Alison M and Burnet, Neil and Mucci, Lorelei A and Giovannucci, Edward and Andriole, Gerald L and Cussenot, Olivier and Cancel-Tassin, Géraldine and Koutros, Stella and Beane Freeman, Laura E and Sorensen, Karina Dalsgaard and Orntoft, Torben Falck and Borre, Michael and Maehle, Lovise and Grindedal, Eli Marie and Neal, David E and Donovan, Jenny L and Hamdy, Freddie C and Martin, Richard M and Travis, Ruth C and Key, Tim J and Hamilton, Robert J and Fleshner, Neil E and Finelli, Antonio and Ingles, Sue Ann and Stern, Mariana C and Rosenstein, Barry S and Kerns, Sarah L and Ostrer, Harry and Lu, Yong-Jie and Zhang, Hong-Wei and Feng, Ninghan and Mao, Xueying and Guo, Xin and Wang, Guomin and Sun, Zan and Giles, Graham G and Southey, Melissa C and MacInnis, Robert J and Fitzgerald, Liesel M and Kibel, Adam S and Drake, Bettina F and Vega, Ana and Gómez-Caamaño, Antonio and Szulkin, Robert and Eklund, Martin and Kogevinas, Manolis and Llorca, Javier and Castaño-Vinyals, Gemma and Penney, Kathryn L and Stampfer, Meir and Park, Jong Y and Sellers, Thomas A and Lin, Hui-Yi and Stanford, Janet L and Cybulski, Cezary and ... and Profile Study and Canary PASS Investigators and Canc Prostate Sweden CAPS and IMPACT Study and Prostate Canc Genome-wide As and APCB and Breast Prostate Canc Cohort Consor and PRACTICAL Prostate Canc As and Genetic Assoc Mech Oncology GAME and Breast and Prostate Cancer Cohort Consortium (BPC3) and Prostate Cancer Genome-wide Association Study of Uncommon Susceptibility Loci (PEGASUS) and Australian Prostate Cancer BioResource (APCB) and Genetic Associations and Mechanisms in Oncology (GAME-ON)/Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE) Consortium and Cancer of the Prostate in Sweden (CAPS) and PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium and The PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium and The IMPACT Study and The Profile Study and The Genetic Associations and Mechanisms in Oncology (GAME-ON)/Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE) Consortium and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Ortopedi and Uppsala universitet and Institutionen för kirurgiska vetenskaper
Nature Genetics, ISSN 1061-4036, 07/2018, Volume 50, Issue 7, pp. 928 - 936
Journal Article