Works about X chromosome abnormalities
Results: 555
Significance of screening for Fabry disease among male dialysis patients.
- Published in:
- Clinical & Experimental Nephrology, 2005, v. 9, n. 3, p. 228, doi. 10.1007/s10157-005-0369-4
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- Publication type:
- Article
Perspectives in Pediatric Pathology, Chapter 16. Klinefelter Syndrome and Other Anomalies in X and Y Chromosomes. Clinical and Pathological Entities.
- Published in:
- Pediatric & Developmental Pathology, 2016, v. 19, n. 4, p. 259, doi. 10.2350/14-06-1512-PB.1
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- Publication type:
- Article
Gonadoblastoma in Patients with Ullrich-Turner Syndrome.
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- Pediatric & Developmental Pathology, 2015, v. 18, n. 2, p. 117, doi. 10.2350/14-08-1539-OA.1
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- Publication type:
- Article
Anterior Segment Developmental Anomalies in a 33-Week-Old Fetus with MIDAS Syndrome.
- Published in:
- 2014
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- Publication type:
- Case Study
Mutation analysis of the ED1 gene in two Chinese Han families with X-linked hypohidrotic ectodermal dysplasia.
- Published in:
- Archives of Dermatological Research, 2003, v. 295, n. 1, p. 38, doi. 10.1007/s00403-003-0394-7
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- Publication type:
- Article
The “Chromosome 2009” Conference will be held in Akademgorodok, Novosibirsk, Russia on August 31–September 6, 2009.
- Published in:
- Russian Journal of Developmental Biology, 2009, v. 40, n. 3, p. 190, doi. 10.1134/S1062360409030102
- Publication type:
- Article
Recent advances in assays for the fragile X-related disorders.
- Published in:
- Human Genetics, 2017, v. 136, n. 10, p. 1313, doi. 10.1007/s00439-017-1840-5
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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
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
Mild haemophilia A in a female patient with a large X-chromosomal deletion and a missense mutation in the F8 gene - a case report.
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- Haemophilia, 2013, v. 19, n. 5, p. e310, doi. 10.1111/hae.12190
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- Publication type:
- Article
The fragile-X syndrome: a growing gene causing familial intellectual disability.
- Published in:
- Journal of Intellectual Disability Research, 1994, v. 38, n. 1, p. 1, doi. 10.1111/j.1365-2788.1994.tb00342.x
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- Publication type:
- Article
Name This Syndrome.
- Published in:
- Pediatric Dermatology, 1992, v. 9, n. 3, p. 304, doi. 10.1111/j.1525-1470.1992.tb00354.x
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- Publication type:
- Article
Klinefelter syndrome and fertility--Impact of X-chromosomal inheritance on spermatogenesis.
- Published in:
- Andrologia, 2018, v. 50, n. 5, p. 1, doi. 10.1111/and.13004
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- Publication type:
- Article
46, XX males: a case series based on clinical and genetics evaluation.
- Published in:
- Andrologia, 2017, v. 49, n. 7, p. n/a, doi. 10.1111/and.12710
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- Publication type:
- Article
An Active Isodicentric X Chromosome in a Case of Refractory Anaemia with Ring Sideroblasts Associated with Marked Thrombocytosis.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes.
- Published in:
- Case Reports in Genetics, 2012, p. 1, doi. 10.1155/2012/681747
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- Publication type:
- Article
Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes.
- Published in:
- Case Reports in Genetics, 2012, p. 1, doi. 10.1155/2012/640563
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- Publication type:
- Article
RUDOLF HAPPLE AND THE DERMATOLOGY EPONYMS LINKED TO HIS NAME.
- Published in:
- Our Dermatology Online / Nasza Dermatologia Online, 2012, v. 3, n. 2, p. 143, doi. 10.7241/ourd.20122.34
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- Publication type:
- Article
A Large Austrian Family with Dent's Disease and a Novel CLCN5 Mutation.
- Published in:
- Kidney & Blood Pressure Research, 2004, v. 27, n. 5/6, p. 389
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- Publication type:
- Article
A mand analysis and levels treatment in an outpatient clinic.
- Published in:
- Behavioral Interventions, 2003, v. 18, n. 2, p. 139, doi. 10.1002/bin.130
- By:
- Publication type:
- Article
X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene.
- Published in:
- Skeletal Muscle, 2015, v. 5, n. 1, p. 1, doi. 10.1186/s13395-014-0025-3
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- Publication type:
- Article
Comparative study of laterality in people with fragile X syndrome, people with intellectual disabilities, and people with typical development.
- Published in:
- Laterality, 2017, v. 22, n. 4, p. 399, doi. 10.1080/1357650X.2016.1208663
- By:
- Publication type:
- Article
Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation.
- Published in:
- Application of Clinical Genetics, 2022, v. 15, p. 27, doi. 10.2147/TACG.S357136
- By:
- Publication type:
- Article
The Effect of Teratozoospermia on Sex Chromosomes in Human Embryos.
- Published in:
- Application of Clinical Genetics, 2021, v. 14, p. 125, doi. 10.2147/TACG.S299349
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- Publication type:
- Article
Gene Therapy and ADL.
- Published in:
- JAMA: Journal of the American Medical Association, 2009, v. 302, n. 23, p. 2531, doi. 10.1001/jama.2009.1841
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- Publication type:
- Article
Stapedectomy Gusher: A Clinical Experience.
- Published in:
- Journal of International Advanced Otology, 2010, v. 6, n. 2, p. 149
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- Publication type:
- Article
Role of X chromosome inactivation in the sex determination.
- Published in:
- EurAsian Journal of Biosciences, 2020, v. 14, n. 2, p. 5981
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- Publication type:
- Article
Regulating a translational regulator: mechanisms cells use to control the activity of the fragile X mental retardation protein.
- Published in:
- Cellular & Molecular Life Sciences, 2004, v. 61, n. 14, p. 1714, doi. 10.1007/s00018-004-4059-2
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- Publication type:
- Article
Bruton's tyrosine kinase is present in normal platelets and its absence identifies patients with X-linked agammaglobulinaemia and carrier females.
- Published in:
- British Journal of Haematology, 2001, v. 114, n. 1, p. 141, doi. 10.1046/j.1365-2141.2001.02905.x
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- Publication type:
- Article
Pathological events in platelets of Wiskott-Aldrich syndrome patients.
- Published in:
- British Journal of Haematology, 1999, v. 106, n. 4, p. 875, doi. 10.1046/j.1365-2141.1999.01637.x
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- Publication type:
- Article
The cytoskeletal linker protein moesin: decreased levels in Wiskott-Aldrich syndrome platelets and identification of a cleavage pathway in normal platelets.
- Published in:
- British Journal of Haematology, 1999, v. 106, n. 1, p. 216, doi. 10.1046/j.1365-2141.1999.01508.x
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- Publication type:
- Article
Review: WISKOTT-ALDRICH SYNDROME: CURRENT RESEARCH CONCEPTS.
- Published in:
- British Journal of Haematology, 1998, v. 101, n. 4, p. 603, doi. 10.1046/j.1365-2141.1998.00756.x
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- Publication type:
- Article
Anterior to posterior limb of the internal capsule morphology in fragile X syndrome.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Specific memory impairment in a multiple disabled male with fragile X syndrome and temporal lobe epilepsy.
- Published in:
- Developmental Medicine & Child Neurology, 2006, v. 48, n. 5, p. 378, doi. 10.1017/S0012162206000818
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- Publication type:
- Article
Inactivation of klotho function induces hyperphosphatemia even in presence of high serum fibroblast growth factor 23 levels in a genetically engineered hypophosphatemic (Hyp) mouse model.
- Published in:
- FASEB Journal, 2009, v. 23, n. 11, p. 3702, doi. 10.1096/fj.08-123992
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- Publication type:
- Article
Mechanisms of Pharmacogenetic Therapy for X-linked Adrenoleukodystrophy.
- Published in:
- 2000
- Publication type:
- Abstract
BREAKTHROUGH IN GENE THERAPY.
- Published in:
- Indian Pediatrics, 2009, v. 46, n. 12, p. 1109
- Publication type:
- Article
Intestinal Behçet's disease complicated by myelodysplastic syndrome and secondary pulmonary alveolar proteinosis: a case report.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Laryngeal web associated with Simpson-Golabi-Behmel syndrome in a child.
- Published in:
- 2009
- By:
- Publication type:
- Letter
XUTs are a class of Xrn1-sensitive antisense regulatory non-coding RNA in yeast.
- Published in:
- Nature, 2011, v. 475, n. 7354, p. 114, doi. 10.1038/nature10118
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- Publication type:
- Article
Genomics: X-linked mysteries.
- Published in:
- Nature, 2009, v. 458, n. 7242, p. 1081, doi. 10.1038/4581081c
- Publication type:
- Article
Neuroscience: Fragile dopamine.
- Published in:
- Nature, 2008, v. 455, n. 7213, p. 607, doi. 10.1038/455607a
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- Publication type:
- Article
Mutagenicity and loss of heterozygosity at the APRT locus in human lymphoblastoid cells exposed to 3′-azido-3′-deoxythymidine.
- Published in:
- Mutagenesis, 2000, v. 15, n. 5, p. 405, doi. 10.1093/mutage/15.5.405
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- Publication type:
- Article
X chromosome regulation: diverse patterns in development, tissues and disease.
- Published in:
- Nature Reviews Genetics, 2014, v. 15, n. 6, p. 367, doi. 10.1038/nrg3687
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- Publication type:
- Article
A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism.
- Published in:
- Human Genetics, 2017, v. 136, n. 7, p. 835, doi. 10.1007/s00439-017-1804-9
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- Publication type:
- Article
Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.
- Published in:
- Human Genetics, 2016, v. 135, n. 7, p. 685, doi. 10.1007/s00439-016-1666-6
- By:
- Publication type:
- Article
Copy number variation in the human Y chromosome in the UK population.
- Published in:
- Human Genetics, 2015, v. 134, n. 7, p. 789, doi. 10.1007/s00439-015-1562-5
- By:
- Publication type:
- Article
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.
- Published in:
- Human Genetics, 2013, v. 132, n. 10, p. 1177, doi. 10.1007/s00439-013-1322-3
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- Publication type:
- Article
Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes.
- Published in:
- Human Genetics, 2008, v. 123, n. 5, p. 469, doi. 10.1007/s00439-008-0498-4
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- Publication type:
- Article
The physical phenotype of girls and women with Turner syndrome is not X-imprinted.
- Published in:
- Human Genetics, 2007, v. 121, n. 3/4, p. 469, doi. 10.1007/s00439-007-0324-4
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- Publication type:
- Article