Works matching DE "X-linked genetic disorders"
Results: 712
X-Linked CGD Chorioretinitis in Two Young Girls.
- Published in:
- Biomedicines, 2025, v. 13, n. 2, p. 323, doi. 10.3390/biomedicines13020323
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- Publication type:
- 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
Dental and oral anomalies in incontinentia pigmenti: a systematic review.
- Published in:
- Clinical Oral Investigations, 2013, v. 17, n. 1, p. 1, doi. 10.1007/s00784-012-0721-5
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- Publication type:
- Article
Comprehensive analysis of the expression profile of circRNAs and their predicted protein-coding ability in the muscle of mdx mice.
- Published in:
- Functional & Integrative Genomics, 2020, v. 20, n. 3, p. 397, doi. 10.1007/s10142-019-00724-w
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- Publication type:
- Article
Pediatric Crohn Disease and Multisystem Inflammatory Syndrome in Children (MIS-C) and COVID-19 Treated With Infliximab.
- Published in:
- 2020
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- Publication type:
- journal article
Intact Regulatory T-Cell Function but Defective Generation of IL-17A-Producing CD4+ T Cells in XIAP Deficiency.
- Published in:
- 2016
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- Publication type:
- journal article
A rare manifestation of specific learning disability in a child with Aicardi syndrome.
- Published in:
- Acta Oto-Laryngologica Case Reports, 2016, v. 1, n. 1, p. 17, doi. 10.1080/23772484.2016.1192949
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- Publication type:
- Article
Preimplantation Genetic Testing Prevented Intergenerational Transmission of X-Linked Alport Syndrome.
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- Kidney Diseases, 2021, v. 7, n. 6, p. 514, doi. 10.1159/000517796
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- Publication type:
- Article
When sex matters: a complete model of X-linked diseases.
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- International Journal of General Systems, 2018, v. 47, n. 6, p. 549, doi. 10.1080/03081079.2018.1473391
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- Publication type:
- Article
The protective role of desmin in duchenne muscular dystrophy: Therapeutic insights.
- Published in:
- Journal of Physiology, 2020, v. 598, n. 21, p. 4759, doi. 10.1113/JP280325
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- Publication type:
- Article
Respiratory capacity is maintained despite Duchenne muscular dystrophy‐related diaphragm weakness.
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- Journal of Physiology, 2019, v. 597, n. 12, p. 2973, doi. 10.1113/JP278100
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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
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
Cell-free fetal DNA: the new tool in fetal medicine.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2015, v. 45, n. 5, p. 499, doi. 10.1002/uog.14746
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- Publication type:
- Article
Haemophilia A carriers experience reduced health-related quality of life.
- Published in:
- Haemophilia, 2015, v. 21, n. 6, p. 761, doi. 10.1111/hae.12690
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- Publication type:
- Article
Novel characterization of a breakpoint in F8: an individualized approach to gene analysis when PCR and MLPA results contradict.
- Published in:
- Haemophilia, 2015, v. 21, n. 3, p. 392, doi. 10.1111/hae.12606
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- Publication type:
- Article
A longitudinal study of family structure in Swedish persons with haemophilia.
- Published in:
- Haemophilia, 2014, v. 20, n. 4, p. 493, doi. 10.1111/hae.12350
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- Publication type:
- Article
A systematic review of MR imaging as a tool for evaluating haemophilic arthropathy in children.
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- Haemophilia, 2013, v. 19, n. 6, p. e324, doi. 10.1111/hae.12248
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- Publication type:
- Article
Syndromes Affecting Periodontium.
- Published in:
- Journal of Advanced Oral Research, 2015, v. 6, n. 3, p. 1, doi. 10.1177/2229411220150301
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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.
- Published in:
- 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
Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic Studies.
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- Case Reports in Obstetrics & Gynecology, 2015, v. 2015, p. 1, doi. 10.1155/2015/561713
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- Publication type:
- Article
The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review.
- Published in:
- Case Reports in Obstetrics & Gynecology, 2015, v. 2015, p. 1, doi. 10.1155/2015/830108
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- Publication type:
- Article
A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome.
- Published in:
- Case Reports in Genetics, 2013, p. 1, doi. 10.1155/2013/349725
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- Publication type:
- Article
Autism Spectrum Disorder in a Girl with a De Novo X;19 Balanced Translocation.
- Published in:
- Case Reports in Genetics, 2012, p. 1, doi. 10.1155/2012/578018
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- Publication type:
- Article
Hypohydrotic ectodermal dysplasia: a case report.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
LESCH-NYHAN SYNDROME: A RARE DISORDER OF SELF-MUTILATING BEHAVIOR.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Total leukoderma and leukotrichia in a child after hematopoietic SCT: report of a case and review of the literature.
- Published in:
- Bone Marrow Transplantation, 2014, v. 49, n. 3, p. 460, doi. 10.1038/bmt.2013.200
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- Publication type:
- Article
Ornithine Transcarbamylase – From Structure to Metabolism: An Update.
- Published in:
- Frontiers in Physiology, 2021, v. 12, p. 1, doi. 10.3389/fphys.2021.748249
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- Publication type:
- Article
Aarskog Syndrome - A Rare Case Report.
- Published in:
- Indian Journal of Public Health Research & Development, 2012, v. 3, n. 3, p. 225
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- Publication type:
- Article
Role of Mecp2 in Experience-Dependent Epigenetic Programming.
- Published in:
- Genes, 2015, v. 6, n. 1, p. 60, doi. 10.3390/genes6010060
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- Publication type:
- Article
Topoisomerase II plays a role in dosage compensation in Drosophila.
- Published in:
- Transcription (2154-1264), 2013, v. 4, n. 5, p. 1, doi. 10.4161/trns.26185
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- Publication type:
- Article
Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype.
- Published in:
- Application of Clinical Genetics, 2021, v. 14, p. 305, doi. 10.2147/TACG.S265835
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- Publication type:
- Article
Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases.
- Published in:
- Application of Clinical Genetics, 2018, v. 11, p. 93, doi. 10.2147/TACG.S165799
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- Publication type:
- Article
Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments.
- Published in:
- Application of Clinical Genetics, 2014, v. 7, p. 55, doi. 10.2147/TACG.S58444
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- Publication type:
- Article
Severe Combined Immunodeficiency.
- Published in:
- JAMA: Journal of the American Medical Association, 2013, v. 309, n. 1, p. 98, doi. 10.1001/jama.2012.6226
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- Publication type:
- Article
Síndrome de Wiskott Aldrich asociado con vasculitis: un desafío terapéutico.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
Síndrome De Wiskott-Aldrich; revisión actualizada.
- Published in:
- Revista Alergia de Mexico, 2011, v. 58, n. 4, p. 213
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- Publication type:
- Article
Primer in Genetics and Genomics, Article 4—Inheritance Patterns.
- Published in:
- Biological Research for Nursing, 2017, v. 19, n. 4, p. 465, doi. 10.1177/1099800417708616
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- Publication type:
- Article
Prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in southeast Iran: implications for malaria elimination.
- Published in:
- Journal of Infection in Developing Countries, 2015, v. 9, n. 3, p. 289, doi. 10.3855/jidc.5572
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- Publication type:
- Article
G6PD deficiency in blood donors of Manaus, Amazon Region, northern Brazil.
- Published in:
- International Journal of Laboratory Hematology, 2021, v. 43, n. 6, p. e290, doi. 10.1111/ijlh.13574
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- Publication type:
- Article
Missense variants in ALAS2 gene in five patients.
- Published in:
- 2019
- By:
- Publication type:
- Letter to the Editor
Correlation between flow cytometry and molecular findings in autosomal recessive chronic granulomatous disease: A cohort study from Oman.
- Published in:
- International Journal of Laboratory Hematology, 2018, v. 40, n. 5, p. 592, doi. 10.1111/ijlh.12873
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- Publication type:
- Article
Systemic Delivery of MeCP2 Rescues Behavioral and Cellular Deficits in Female Mouse Models of Rett Syndrome.
- Published in:
- Journal of Neuroscience, 2013, v. 33, n. 34, p. 13612, doi. 10.1523/JNEUROSCI.1854-13.2013
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- Publication type:
- Article
Cytopenia: a report of haplo-cord transplantation in twin brothers caused by a novel germline GATA1 mutation and family survey.
- Published in:
- Annals of Hematology, 2023, v. 102, n. 11, p. 3177, doi. 10.1007/s00277-023-05363-7
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- Publication type:
- Article
'Long-term survivor with X-linked myotubular myopathy'.
- Published in:
- 2005
- By:
- Publication type:
- Case Study
The phenotypic spectrum of ARX mutations.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Variations in native T1 values in patients with Duchenne muscular dystrophy with and without late gadolinium enhancement.
- Published in:
- International Journal of Cardiovascular Imaging, 2021, v. 37, n. 2, p. 635, doi. 10.1007/s10554-020-02031-z
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- Publication type:
- Article
Defective Mineralization in X-Linked Hypophosphatemia Dental Pulp Cell Cultures.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Phosphate and Vitamin D Prevent Periodontitis in X-Linked Hypophosphatemia.
- Published in:
- 2017
- By:
- Publication type:
- journal article