Expanded Phenotypic Spectrum or Multiple Syndromes?
作者信息
Poot Martin
出版信息
Mol Syndromol. 2022 Dec;13(5):361-362. doi: 10.1159/000526893. Epub 2022 Oct 28.
Abstract
摘要
相似文献
1
Expanded Phenotypic Spectrum or Multiple Syndromes?
Mol Syndromol. 2022 Dec;13(5):361-362. doi: 10.1159/000526893. Epub 2022 Oct 28.
2
Expanding the phenotypic spectrum of the Baller-Gerold syndrome.
Genet Couns. 2003;14(3):299-312.
3
Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes.
Am J Med Genet A. 2023 Jul;191(7):1826-1835. doi: 10.1002/ajmg.a.63208. Epub 2023 Apr 17.
4
Genetic Predictive Factors for Nonsusceptible Phenotypes and Multidrug Resistance in Expanded-Spectrum Cephalosporin-Resistant Uropathogenic Escherichia coli from a Multicenter Cohort: Insights into the Phenotypic and Genetic Basis of Coresistance.
mSphere. 2022 Dec 21;7(6):e0047122. doi: 10.1128/msphere.00471-22. Epub 2022 Nov 15.
5
Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.
Clin Genet. 2020 Nov;98(5):445-456. doi: 10.1111/cge.13825.
6
The graded multidimensional geometry of phenotypic variation and progression in neurodegenerative syndromes.
Brain. 2025 Feb 3;148(2):448-466. doi: 10.1093/brain/awae233.
7
Adult Phenotypes in Angelman- and Rett-Like Syndromes.
Mol Syndromol. 2012 Apr;2(3-5):217-234. doi: 10.1159/000335661. Epub 2012 Jan 13.
8
Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature.
Am J Med Genet A. 2020 Feb;182(2):365-373. doi: 10.1002/ajmg.a.61433. Epub 2019 Dec 11.
9
Congenital myasthenic syndromes: recent advances.
Curr Opin Neurol. 2016 Oct;29(5):565-71. doi: 10.1097/WCO.0000000000000370.
10
Advances in overgrowth syndromes: clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndrome.
Curr Opin Pediatr. 2005 Dec;17(6):740-6. doi: 10.1097/01.mop.0000187191.74295.97.
引用本文的文献
1
Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review.
Genes (Basel). 2022 Dec 16;13(12):2377. doi: 10.3390/genes13122377.
本文引用的文献
1
First Patient Diagnosed as Feingold Syndrome Type 2 with Alport Syndrome and Review of the Current Literature.
Mol Syndromol. 2022 Dec;13(5):447-453. doi: 10.1159/000524058. Epub 2022 Apr 27.
2
Co-Occurring Atypical Galactosemia and Wilson Disease.
Mol Syndromol. 2022 Dec;13(5):454-458. doi: 10.1159/000524004. Epub 2022 Apr 27.
3
Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems.
Mol Syndromol. 2020 Jun;11(2):62-72. doi: 10.1159/000506530. Epub 2020 Mar 11.
4
Whole-genome sequencing in a family with twin boys with autism and intellectual disability suggests multimodal polygenic risk.
Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6). doi: 10.1101/mcs.a003285. Print 2018 Dec.
5
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
N Engl J Med. 2017 Jan 5;376(1):21-31. doi: 10.1056/NEJMoa1516767. Epub 2016 Dec 7.
6
Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.
Mol Syndromol. 2015 Sep;6(3):110-34. doi: 10.1159/000438812. Epub 2015 Aug 15.
7
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048.
8
Clan genomics and the complex architecture of human disease.
Cell. 2011 Sep 30;147(1):32-43. doi: 10.1016/j.cell.2011.09.008.
9
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006.
10
Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.
Eur J Hum Genet. 2007 Nov;15(11):1132-8. doi: 10.1038/sj.ejhg.5201899. Epub 2007 Jul 18.
Zotero 插件