Works matching DE "X-linked genetic disorders"
Results: 713
Sex Chromosomes Do It Differently.
- Published in:
- PLoS Biology, 2016, v. 14, n. 10, p. 1, doi. 10.1371/journal.pbio.2001096
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- Publication type:
- Article
Dosage Effect of a Phex Mutation in a Murine Model of X-Linked Hypophosphatemia.
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- Calcified Tissue International, 2013, v. 93, n. 2, p. 155, doi. 10.1007/s00223-013-9736-4
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- Publication type:
- Article
Phenotype presentation of hypophosphatemic rickets in adults.
- Published in:
- 2010
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- Publication type:
- journal article
Survey of the enthesopathy of X-linked hypophosphatemia and its characterization in Hyp mice.
- Published in:
- 2009
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- Publication type:
- journal article
Results of deformity correction in children with X-linked hereditary hypophosphatemic rickets by external fixation or combined technique.
- Published in:
- 2015
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- Publication type:
- journal article
Results from a first-in-human study of dersimelagon, an investigational oral selective MC1R agonist.
- Published in:
- European Journal of Clinical Pharmacology, 2023, v. 79, n. 6, p. 801, doi. 10.1007/s00228-023-03476-6
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- Publication type:
- Article
ATRX loss refines the classification of anaplastic gliomas and identifies a subgroup of IDH mutant astrocytic tumors with better prognosis.
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- Acta Neuropathologica, 2013, v. 126, n. 3, p. 443, doi. 10.1007/s00401-013-1156-z
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- Publication type:
- Article
Advancing Cell Transplantation Research with Integrity and Rigor.
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- Cell Transplantation, 2024, v. 33, p. 1, doi. 10.1177/09636897241309996
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- Publication type:
- Article
Cellular basis of XMEN.
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- Nature Immunology, 2013, v. 14, n. 9, p. 892, doi. 10.1038/ni.2697
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- Publication type:
- Article
Unidirectional Eph/ephrin signaling creates a cortical actomyosin differential to drive cell segregation.
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- Journal of Cell Biology, 2016, v. 215, n. 2, p. 217, doi. 10.1083/jcb.201604097
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- Publication type:
- Article
Comparison of transcriptome-wide N<sup>6</sup>-methyladenosine profiles from healthy trio families reveals regulator-mediated methylation alterations.
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- Genetics, 2024, v. 226, n. 2, p. 1, doi. 10.1093/genetics/iyad206
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- Publication type:
- Article
Dual roles for nuclear RNAi Argonautes in Caenorhabditis elegans dosage compensation.
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- Genetics, 2022, v. 221, n. 1, p. 1, doi. 10.1093/genetics/iyac033
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- Publication type:
- Article
Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review.
- Published in:
- BioMed Research International, 2021, p. 1, doi. 10.1155/2021/6664973
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- Publication type:
- Article
X-Linked Lissencephaly with Absent Corpus Callosum and Ambiguous Genitalia: A Case Report.
- Published in:
- 2016
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- Publication type:
- Case Study
Recent Advances in Gene Therapy for Hemophilia: Projecting the Perspectives.
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 7, p. 854, doi. 10.3390/biom14070854
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- Publication type:
- Article
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
- Published in:
- Clinical & Translational Medicine, 2024, v. 14, n. 11, p. 1, doi. 10.1002/ctm2.70074
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- Publication type:
- Article
Antiplatelet and invasive treatment in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency and acute coronary syndrome. The safety of aspirin.
- Published in:
- Journal of Clinical Pharmacy & Therapeutics, 2015, v. 40, n. 3, p. 349, doi. 10.1111/jcpt.12262
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- Publication type:
- Article
Immunoglobulin replacement therapy in antibody deficiency syndromes: are we really doing enough?
- Published in:
- Clinical & Experimental Immunology, 2014, v. 178, p. 83, doi. 10.1111/cei.12521
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- Publication type:
- Article
T cell phenotypes in patients with common variable immunodeficiency disorders: associations with clinical phenotypes in comparison with other groups with recurrent infections.
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- Clinical & Experimental Immunology, 2012, v. 170, n. 2, p. 202, doi. 10.1111/j.1365-2249.2012.04643.x
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- Publication type:
- Article
Clinical Manifest X-Linked Recessive Adrenoleukodystrophy in a Female.
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- Case Reports in Neurological Medicine, 2013, p. 1, doi. 10.1155/2013/491790
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- Publication type:
- Article
Central Nervous System Demyelination in a Charcot-Marie-Tooth Type 1A Patient.
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- Case Reports in Neurological Medicine, 2013, p. 1, doi. 10.1155/2013/243652
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- Publication type:
- Article
Diagnosing a genetic disease in a donor-conceived child: case report and discussion of the ethical, legal, and practical issues.
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- Pediatric Nephrology, 2025, v. 40, n. 3, p. 859, doi. 10.1007/s00467-024-06556-6
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- Publication type:
- Article
Spectrum of Alport syndrome in an Indian cohort.
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- Pediatric Nephrology, 2025, v. 40, n. 2, p. 393, doi. 10.1007/s00467-024-06507-1
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- Publication type:
- Article
A rare case of late-onset immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome confused with IgA vasculitis nephropathy.
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- Pediatric Nephrology, 2025, v. 40, n. 1, p. 89, doi. 10.1007/s00467-024-06482-7
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- Publication type:
- Article
Sex differences of burosumab in children with X-linked hypophosphataemic rickets.
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- Pediatric Nephrology, 2023, v. 38, n. 9, p. 3183, doi. 10.1007/s00467-022-05822-9
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- Publication type:
- Article
Low molecular weight proteinuria, congenital myopia and hearing loss in a 10-year-old boy: Answers.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 8, p. 2587, doi. 10.1007/s00467-023-05883-4
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- Publication type:
- Article
Membranous nephropathy in a female patient with X-linked thrombocytopenia.
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- Pediatric Nephrology, 2023, v. 38, n. 8, p. 2873, doi. 10.1007/s00467-022-05833-6
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- Publication type:
- Article
X-linked hypophosphatemia, obesity and arterial hypertension: data from the XLH21 study.
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- Pediatric Nephrology, 2023, v. 38, n. 3, p. 697, doi. 10.1007/s00467-022-05636-9
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- Publication type:
- Article
Unexpected finding in kidney biopsy of a child with nephrotic proteinuria: Answers.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 1, p. 115, doi. 10.1007/s00467-022-05615-0
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- Publication type:
- Article
Real-world effectiveness of burosumab in children with X-linked hypophosphatemic rickets.
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- Pediatric Nephrology, 2022, v. 37, n. 11, p. 2667, doi. 10.1007/s00467-022-05484-7
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- Publication type:
- Article
Gross hematuria, edema, and hypocomplementemia in a 9-year-old boy: Answers.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 10, p. 2349, doi. 10.1007/s00467-022-05539-9
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- Publication type:
- Article
Population-based studies reveal an additive role of type IV collagen variants in hematuria and albuminuria.
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- Pediatric Nephrology, 2022, v. 37, n. 2, p. 253, doi. 10.1007/s00467-021-04934-y
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- Publication type:
- Article
Kidney involvement in a child with autoimmune disease: Answers.
- Published in:
- 2021
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- Publication type:
- Question & Answer
Kidney involvement in a child with autoimmune disease: Questions.
- Published in:
- 2021
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- Publication type:
- Question & Answer
A 5-year-old boy with refractory rickets, polyuria, and hypokalemic metabolic alkalosis: Answers.
- Published in:
- 2021
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- Publication type:
- Case Study
Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2.
- Published in:
- Pediatric Nephrology, 2020, v. 35, n. 12, p. 2319, doi. 10.1007/s00467-020-04701-5
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- Publication type:
- Article
Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts.
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- Pediatric Nephrology, 2020, v. 35, n. 4, p. 633, doi. 10.1007/s00467-019-04210-0
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- Publication type:
- Article
Alport syndrome: deducing the mode of inheritance from the presence of haematuria in family members.
- Published in:
- Pediatric Nephrology, 2020, v. 35, n. 1, p. 59, doi. 10.1007/s00467-018-4121-1
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- Publication type:
- Article
Focus on neonatal and infantile onset of nephrogenic syndrome of inappropriate antidiuresis: 12 years later.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 5, p. 763, doi. 10.1007/s00467-018-3922-6
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- Publication type:
- Article
Decreased urinary excretion of the ectodomain form of megalin (A-megalin) in children with OCRL gene mutations.
- Published in:
- Pediatric Nephrology, 2017, v. 32, n. 4, p. 621, doi. 10.1007/s00467-016-3535-x
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- Publication type:
- Article
Phenotypic variability of Dent disease in a large New Zealand kindred.
- Published in:
- Pediatric Nephrology, 2017, v. 32, n. 2, p. 365, doi. 10.1007/s00467-016-3472-8
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- Publication type:
- Article
Renal involvement in the immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) disorder.
- Published in:
- 2015
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- Publication type:
- Report
Results of cochlear implantation in patient with incomplete partition type 3 and cochlear ossification.
- Published in:
- Journal of Hearing Science, 2022, v. 12, n. 1, p. 185
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- Publication type:
- Article
Deafness in Mohr-Tranebjaerg syndrome with X-linked agammaglobulinemia.
- Published in:
- Journal of Hearing Science, 2022, v. 12, n. 1, p. 162
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- Publication type:
- Article
X-linked malformation deafness, a comparison of hearing augmentation with either bone-anchored hearing aid or cochlear implantation.
- Published in:
- Journal of Hearing Science, 2018, v. 8, n. 2, p. 231
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- Publication type:
- Article
Cochlear implantation for pediatric X-linked deafness patients: preoperation assessment and postoperation evaluation.
- Published in:
- Journal of Hearing Science, 2018, v. 8, n. 2, p. 231
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- Publication type:
- Article
NHS Gene Mutations in Ashkenazi Jewish Families with Nance–Horan Syndrome.
- Published in:
- Current Eye Research, 2017, v. 42, n. 9, p. 1240, doi. 10.1080/02713683.2017.1304560
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- Publication type:
- Article
Diagnosis of X-Linked Hypohidrotic Ectodermal Dysplasia by Meibography and Infrared Thermography of the Eye.
- Published in:
- Current Eye Research, 2015, v. 40, n. 9, p. 884, doi. 10.3109/02713683.2014.967869
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- Publication type:
- Article
Identification of a Novel NHS Mutation in a Chinese Family with Nance-Horan Syndrome.
- Published in:
- Current Eye Research, 2015, v. 40, n. 4, p. 434, doi. 10.3109/02713683.2014.959606
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- Publication type:
- Article
Gender Specific Issues in Hereditary Ocular Disorders.
- Published in:
- Current Eye Research, 2015, v. 40, n. 2, p. 128, doi. 10.3109/02713683.2014.932813
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- Publication type:
- Article