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Journal Article
American journal of human genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 141 - 149
Journal Article
Journal Article
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 5, pp. 438 - 443
Journal Article
Journal Article
Molecular cancer therapeutics, ISSN 1538-8514, 05/2017, Volume 16, Issue 5, pp. 850 - 860
Journal Article
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) | Pathology | Oncology | Life Sciences & Biomedicine | Science & Technology | 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
Pediatric nephrology (Berlin, West), ISSN 1432-198X, 12/2017, Volume 34, Issue 4, pp. 549 - 559
Renal phosphate handling critically determines plasma phosphate and whole body phosphate levels. Filtered phosphate is mostly reabsorbed by Na+-dependent... 
SLC34A3 | Pediatrics | Proximal tubule | Nephrology | Nephrocalcinosis | Medicine & Public Health | Phosphate | SLC34A1 | Nephrolithiasis | FGF23 | Urology | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Prognosis | Humans | Renal Tubular Transport, Inborn Errors - genetics | Sodium-Phosphate Cotransporter Proteins, Type IIa - metabolism | Renal Reabsorption | Sodium-Phosphate Cotransporter Proteins, Type III - genetics | Renal Tubular Transport, Inborn Errors - metabolism | Sodium-Phosphate Cotransporter Proteins, Type IIc - genetics | Sodium-Phosphate Cotransporter Proteins, Type IIc - metabolism | Renal Tubular Transport, Inborn Errors - physiopathology | Sodium-Phosphate Cotransporter Proteins - metabolism | Genetic Predisposition to Disease | Risk Assessment | Risk Factors | Sodium-Phosphate Cotransporter Proteins - genetics | Heredity | Sodium-Phosphate Cotransporter Proteins, Type IIa - genetics | Phenotype | Phosphates - metabolism | Animals | Pedigree | Kidney Tubules, Proximal - metabolism | Sodium-Phosphate Cotransporter Proteins, Type III - metabolism | Mutation | Familial Hypophosphatemic Rickets | Kidneys | Carrier proteins | Development and progression | Phosphorus imbalance | Genetic aspects | Phosphorus metabolism | Health aspects | Vitamin D3 | Renal function | Homeostasis | Reabsorption | Genomes | Hereditary diseases | Hypercalcemia | Hypercalciuria | Rickets | Hypophosphatemia | Calcium homeostasis | Kidney transplantation | Kidney stones | Index Medicus
Journal Article