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The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 141 - 149
Journal Article
Journal Article
Joint Bone Spine, ISSN 1297-319X, 07/2019, Volume 86, Issue 4, pp. 459 - 466
A genetic disorder should be suspected in patients with hypercalcemia, notably those who are young; have family members with hypercalcemia; or have had a tumor... 
Familial hypercalcemia | Genetic hypercalcemia | Syndromic hypercalcemia | Hypercalcemia in young patients | Hypercalcemia | Phosphates | Phosphatases | Vitamin D | Parathyroid hormone | Analysis | Cytochrome P-450 | Thyroid diseases | Calcifediol | Alfacalcidol | Genetic screening | Index Medicus
Journal Article
The Journal of Pathology, ISSN 0022-3417, 09/2017, Volume 243, Issue 1, pp. 9 - 15
SMARCA4 chromatin remodelling factor is mutated in 11% of Coffin–Siris syndrome (CSS) patients and in almost all small‐cell carcinoma of the ovary... 
Coffin–Siris syndrome (CSS) | small‐cell carcinoma of the ovary hypercalcaemic type (SCCOHT) | haploinsufficiency | microphthalmia | SMARCA4/BRG1 | SWI/SNF complex | whole‐exome sequencing (WES) | chromatin remodelling factors | nonsense‐mediated mRNA decay (NMD) | intellectual disability | whole-exome sequencing (WES) | small-cell carcinoma of the ovary hypercalcaemic type (SCCOHT) | nonsense-mediated mRNA decay (NMD) | COMPLEX | Coffin-Siris syndrome (CSS) | PHENOTYPE | COMPONENTS | PATHOLOGY | ONCOLOGY | PATIENT | Immunohistochemistry | Carcinoma, Small Cell - genetics | Frameshift Mutation | Microphthalmos - genetics | Humans | Middle Aged | Male | Intellectual Disability - metabolism | Ovarian Neoplasms - genetics | Carcinoma, Small Cell - chemistry | Micrognathism - metabolism | DNA Mutational Analysis | DNA Helicases - genetics | Abnormalities, Multiple - genetics | Genetic Predisposition to Disease | Micrognathism - genetics | Hypercalcemia - metabolism | Neck - abnormalities | Reverse Transcriptase Polymerase Chain Reaction | Blotting, Western | Phenotype | Hypercalcemia - diagnosis | Abnormalities, Multiple - diagnosis | Adolescent | Biomarkers, Tumor - genetics | Transcription Factors - analysis | Abnormalities, Multiple - metabolism | Nuclear Proteins - analysis | Face - abnormalities | Microphthalmos - metabolism | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Microphthalmos - diagnosis | Micrognathism - diagnosis | Hand Deformities, Congenital - metabolism | Female | Nuclear Proteins - genetics | Hypercalcemia - genetics | Ovarian Neoplasms - chemistry | Biomarkers, Tumor - analysis | Ovarian Neoplasms - diagnosis | RNA, Messenger - genetics | Codon, Nonsense | Transcription Factors - genetics | Carcinoma, Small Cell - diagnosis | Hand Deformities, Congenital - genetics | Pedigree | Intellectual Disability - diagnosis | DNA Helicases - analysis | Heterozygote | Genetic aspects | Carcinoma | Analysis | Cancer | Animal models | Nonsense mutation | mRNA turnover | Coffin-Siris syndrome | Disorders | Frameshift mutation | Reverse transcription | Immunoblotting | Nonsense-mediated mRNA decay | Patients | Chromatin remodeling | Haploinsufficiency | Polymerase chain reaction | Missense mutation | Mutation | Tumors | Microphthalmia | Index Medicus | SWI | BRG1 | Brief Definitive Report | Brief Definitive Reports | SMARCA4 | SNF complex
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 5, pp. 438 - 443
Journal Article
Molecular Cancer Therapeutics, ISSN 1535-7163, 05/2017, Volume 16, Issue 5, pp. 850 - 860
The SWI/SNF complex is a major regulator of gene expression and is increasingly thought to play an important role in human cancer, as evidenced by the high... 
TRANSFORMATION | LUNG-CANCER | METHYLATION | ONCOLOGY | SWI/SNF COMPLEXES | BRG1/BRM | RHABDOID TUMOR | LYMPHOMA | SCREENS | MUTATIONS | EXPRESSION | Enhancer of Zeste Homolog 2 Protein - antagonists & inhibitors | Carcinoma, Small Cell - genetics | Humans | Ovarian Neoplasms - pathology | Rhabdoid Tumor - pathology | Ovarian Neoplasms - genetics | Female | Hypercalcemia - drug therapy | Gene Expression Regulation, Neoplastic - drug effects | Nuclear Proteins - genetics | DNA Helicases - genetics | Ovarian Neoplasms - drug therapy | Hypercalcemia - genetics | Rhabdoid Tumor - drug therapy | Diagnosis, Differential | Enhancer of Zeste Homolog 2 Protein - genetics | Histone-Lysine N-Methyltransferase - genetics | Hypercalcemia - pathology | Ovarian Neoplasms - diagnosis | Carcinoma, Small Cell - drug therapy | Transcription Factors - genetics | Carcinoma, Small Cell - diagnosis | Chromosomal Proteins, Non-Histone - genetics | Xenograft Model Antitumor Assays | Animals | Rhabdoid Tumor - genetics | Hypercalcemia - diagnosis | Cell Line, Tumor | Mice | Rhabdoid Tumor - diagnosis | Mutation | Carcinoma, Small Cell - pathology | Medical research | Biotechnology | Ovarian carcinoma | Clinical trials | Tumor cell lines | Gene expression | Anticancer properties | Hypercalcemia | Cell lines | SWI/SNF complex | Xenografts | Histone methyltransferase | Antitumor activity | Inhibition | Cancer | Tumors | Index Medicus
Journal Article
Oncotarget, ISSN 1949-2553, 2016, Volume 7, Issue 2, pp. 1732 - 1740
Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is the most common undifferentiated ovarian malignancy diagnosed in women under age 40. We and... 
SCCOHT | ATRT | Methylation | Exome sequencing | SWI/SNF | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 158 - 166
Journal Article
Diabetes, ISSN 0012-1797, 07/2018, Volume 67, Issue 7, pp. 1297 - 1309
Phosphatidylinositol 3-kinase (PI3K) plays a central role in insulin signaling, glucose metabolism, cell growth, cell development, and apoptosis. A... 
PIK3R1 MUTATIONS | PHOSPHOINOSITIDE 3-KINASE P85-ALPHA | PARTIAL LIPODYSTROPHY | PHOSPHATIDYLINOSITOL 3-KINASE | ENDOCRINOLOGY & METABOLISM | RESISTANCE | ADIPOCYTE DIFFERENTIATION | EMBRYONIC LETHALITY | INCREASED INSULIN SENSITIVITY | ADIPOSE-TISSUE | SUBUNIT | Diabetes Mellitus - pathology | Diabetes Mellitus - genetics | Fatty Liver - pathology | Humans | Male | Mutation, Missense | Obesity - genetics | Genes, Dominant | Arginine - genetics | Female | Fatty Liver - genetics | Hypercalcemia - genetics | Genetic Predisposition to Disease | Mice, Inbred C57BL | Tryptophan - genetics | Mice, Transgenic | Gene Knock-In Techniques | Obesity - pathology | Phosphatidylinositol 3-Kinases - genetics | Animals | Nephrocalcinosis - genetics | Metabolic Diseases - genetics | Mice, Obese | Mice | Growth Disorders - genetics | Amino Acid Substitution | Obesity | Phosphoinositides | Fatty liver | Gene mutations | Rattus | Rats | Insulin resistance | Genetic aspects | Research | Risk factors | Animal models | Adipose tissue | Growth rate | Glucose | Mental depression | High fat diet | Hernia | Glucose metabolism | Hyperglycemia | Missense mutation | Rodents | Lipid metabolism | Phenotypes | Liver diseases | Diabetes mellitus | Metabolism | Insulin | 1-Phosphatidylinositol 3-kinase | Steatosis | Lipodystrophy | Mutation | Apoptosis | Index Medicus | Abridged Index Medicus | 0601 | Obesity Studies
Journal Article
Journal of Applied Genetics, ISSN 1234-1983, 8/2017, Volume 58, Issue 3, pp. 349 - 353
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 10/2017, Volume 26, Issue 19, pp. 3713 - 3721
SHORT syndrome is a rare, recognizable syndrome resulting from heterozygous mutations in PIK3R1 encoding a regulatory subunit of phosphoinositide-3-kinase... 
CELLS | OVEREXPRESSION | PIK3R1 MUTATIONS | PARTIAL LIPODYSTROPHY | PHOSPHORYLATION | INSULIN-RESISTANCE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GROWTH |