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1973 1
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1994 2
1995 4
1996 1
1997 2
1999 1
2001 1
2002 1
2003 2
2004 1
2005 2
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2007 1
2009 2
2010 3
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2012 5
2013 1
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2015 4
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80 results

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Page 1
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR. Posey JE, et al. N Engl J Med. 2017 Jan 5;376(1):21-31. doi: 10.1056/NEJMoa1516767. Epub 2016 Dec 7. N Engl J Med. 2017. PMID: 27959697 Free PMC article.
We also analyzed parental samples, when available, and found that de novo variants accounted for 67.8% (61 of 90) of pathogenic variants in autosomal dominant disease genes and 51.7% (15 of 29) of pathogenic variants in X-linked disease genes; both variants w …
We also analyzed parental samples, when available, and found that de novo variants accounted for 67.8% (61 of 90) of pathogenic variants in …
X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis.
Viggiano E, Politano L. Viggiano E, et al. Int J Mol Sci. 2021 Jul 17;22(14):7663. doi: 10.3390/ijms22147663. Int J Mol Sci. 2021. PMID: 34299283 Free PMC article. Review.
Previous studies suggest a correlation between skewed X chromosome inactivation and symptoms in carriers of X-linked disease, including Fabry disease. In this review, we briefly summarize the disease, focusing on the clinical symptoms of carriers and analysis …
Previous studies suggest a correlation between skewed X chromosome inactivation and symptoms in carriers of X-linked diseas …
Familial hematuria: A review.
Plevová P, Gut J, Janda J. Plevová P, et al. Medicina (Kaunas). 2017;53(1):1-10. doi: 10.1016/j.medici.2017.01.002. Epub 2017 Jan 31. Medicina (Kaunas). 2017. PMID: 28236514 Free article. Review.
The features of Alport syndrome include hematuria, proteinuria and all males with X-linked disease and all individuals with recessive disease will develop end stage renal disease, usually at early youth. In X-linked Alport syndrome, a clear genotype-phenotype …
The features of Alport syndrome include hematuria, proteinuria and all males with X-linked disease and all individuals …
DNA methylation impact on Fabry disease.
Di Risi T, Vinciguerra R, Cuomo M, Della Monica R, Riccio E, Cocozza S, Imbriaco M, Duro G, Pisani A, Chiariotti L. Di Risi T, et al. Clin Epigenetics. 2021 Feb 2;13(1):24. doi: 10.1186/s13148-021-01019-3. Clin Epigenetics. 2021. PMID: 33531072 Free PMC article. Review.
BACKGROUND: Fabry disease (FD) is a rare X-linked disease caused by mutations in GLA gene with consequent lysosomal accumulation of globotriaosylceramide (Gb3). ...The hope for the future is that ad hoc and ultradeep methylation analyses of GLA gene will prov …
BACKGROUND: Fabry disease (FD) is a rare X-linked disease caused by mutations in GLA gene with consequent lysosomal acc …
Have humans lost control: The elusive X-controlling element.
Peeters SB, Yang C, Brown CJ. Peeters SB, et al. Semin Cell Dev Biol. 2016 Aug;56:71-77. doi: 10.1016/j.semcdb.2016.01.044. Epub 2016 Feb 3. Semin Cell Dev Biol. 2016. PMID: 26849907 Review.
The process of X-chromosome inactivation (XCI) randomly silences one of two X chromosomes in normal female cells. The ability to predict if there is a preference for one of the two Xs to be chosen (and survive) more often as the active X has important repercussions in huma …
The process of X-chromosome inactivation (XCI) randomly silences one of two X chromosomes in normal female cells. The ability to predict …
The functional impact of 1,570 individual amino acid substitutions in human OTC.
Lo RS, Cromie GA, Tang M, Teng K, Owens K, Sirr A, Kutz JN, Morizono H, Caldovic L, Ah Mew N, Gropman A, Dudley AM. Lo RS, et al. Am J Hum Genet. 2023 May 4;110(5):863-879. doi: 10.1016/j.ajhg.2023.03.019. Am J Hum Genet. 2023. PMID: 37146589 Free PMC article.
Comparison to existing clinical significance calls, demonstrated that our assay distinguishes known benign from pathogenic variants and variants with neonatal onset from late-onset disease presentation. This functional stratification allowed us to identify score ranges cor …
Comparison to existing clinical significance calls, demonstrated that our assay distinguishes known benign from pathogenic variants and vari …
Ocular features in Alport syndrome: pathogenesis and clinical significance.
Savige J, Sheth S, Leys A, Nicholson A, Mack HG, Colville D. Savige J, et al. Clin J Am Soc Nephrol. 2015 Apr 7;10(4):703-9. doi: 10.2215/CJN.10581014. Epub 2015 Feb 3. Clin J Am Soc Nephrol. 2015. PMID: 25649157 Free PMC article. Review.
Lenticonus and central fleck retinopathy strongly suggest the diagnosis of Alport syndrome and are associated with renal failure before the age of 30 years, in males with X-linked disease. Sometimes, ophthalmic features suggest the mode of inheritance. ...
Lenticonus and central fleck retinopathy strongly suggest the diagnosis of Alport syndrome and are associated with renal failure before the …
Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.
Wang Y, Sivakumar V, Mohammad M, Colville D, Storey H, Flinter F, Dagher H, Savige J. Wang Y, et al. Pediatr Nephrol. 2014 Mar;29(3):391-6. doi: 10.1007/s00467-013-2643-0. Epub 2013 Nov 2. Pediatr Nephrol. 2014. PMID: 24178893
These features occurred as often as in males with X-linked disease. Females with autosomal recessive inheritance were less likely to have an affected family member in another generation (p = 0.01) than females with X-linked disease. ...Fi …
These features occurred as often as in males with X-linked disease. Females with autosomal recessive inheritance were l …
Neurovascular unit disruption and blood-brain barrier leakage in MCT8 deficiency.
Guillén-Yunta M, Valcárcel-Hernández V, García-Aldea Á, Soria G, García-Verdugo JM, Montero-Pedrazuela A, Guadaño-Ferraz A. Guillén-Yunta M, et al. Fluids Barriers CNS. 2023 Nov 3;20(1):79. doi: 10.1186/s12987-023-00481-w. Fluids Barriers CNS. 2023. PMID: 37924081 Free PMC article.
Inactivating mutations in the MCT8 gene (SLC16A2) cause the Allan-Herndon-Dudley Syndrome (AHDS) or MCT8 deficiency, a rare X-linked disease characterized by delayed neurodevelopment and severe psychomotor disorders. ...We also found functional alterations in …
Inactivating mutations in the MCT8 gene (SLC16A2) cause the Allan-Herndon-Dudley Syndrome (AHDS) or MCT8 deficiency, a rare X-link …
Increased microvascular disease in X-linked and autosomal recessive Alport syndrome: a case control cross sectional observational study.
Smith JD, Colville D, Lyttle N, Lamoureux E, Savige J. Smith JD, et al. Ophthalmic Genet. 2019 Apr;40(2):129-134. doi: 10.1080/13816810.2019.1589528. Epub 2019 Apr 15. Ophthalmic Genet. 2019. PMID: 30985254
Moderate microvascular/hypertensive changes were present in males and females with X-linked or autosomal recessive disease but not controls. Arteriolar calibre was reduced in males with X-linked disease (142.5 18.7 m, and 150.7 10.1 m, p = 0.046) and in autos …
Moderate microvascular/hypertensive changes were present in males and females with X-linked or autosomal recessive disease but not controls. …
80 results