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Mendeliome

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https://www.readbyqxmd.com/read/27530281/an-unusual-presentation-of-kabuki-syndrome-with-orbital-cysts-microphthalmia-and-cholestasis-with-bile-duct-paucity
#1
Nina Bögershausen, Umut Altunoglu, Filippo Beleggia, Gökhan Yigit, Hülya Kayserili, Peter Nürnberg, Yun Li, Janine Altmüller, Bernd Wollnik
Kabuki syndrome (KS) is a rare developmental disorder characterized by multiple congenital malformations, postnatal growth retardation, intellectual disability, and recognizable facial features. It is mainly caused by mutations in either KMT2D or KDM6A. We describe a 14-year-old boy with KS presenting with an unusual combination of bilateral microphthalmia with orbital cystic venous lymphatic malformation and neonatal cholestasis with bile duct paucity, in addition to the typical clinical features of KS. We identified the novel KMT2D mutation c...
December 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27317552/mendeliome-sequencing-enables-differential-diagnosis-and-treatment-of-neonatal-lactic-acidosis
#2
Walid Fazeli, Mert Karakaya, Peter Herkenrath, Anne Vierzig, Jörg Dötsch, Jürgen-Christoph von Kleist-Retzow, Sebahattin Cirak
BACKGROUND: Neonatal lactic acidosis can be associated to severe inborn errors of metabolism. Rapid identification of the underlying disorder may improve the clinical management through reliable counseling of the parents and adaptation of the treatment. METHODS: We present the case of a term newborn with persistent hypoglycemia on postnatal day 1, who developed severe lactic acidosis, aggravating under intravenous glucose administration. Routine metabolic investigations revealed elevated pyruvate and lactate levels in urine, and magnetic resonance spectroscopy showed a lactic acid peak and decreased N-acetylaspartate levels...
December 2016: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/27195307/a-new-framework-and-prototype-solution-for-clinical-decision-support-and-research-in-genomics-and-other-data-intensive-fields-of-medicine
#3
James P Evans, Kirk C Wilhelmsen, Jonathan Berg, Charles P Schmitt, Ashok Krishnamurthy, Karamarie Fecho, Stanley C Ahalt
INTRODUCTION: In genomics and other fields, it is now possible to capture and store large amounts of data in electronic medical records (EMRs). However, it is not clear if the routine accumulation of massive amounts of (largely uninterpretable) data will yield any health benefits to patients. Nevertheless, the use of large-scale medical data is likely to grow. To meet emerging challenges and facilitate optimal use of genomic data, our institution initiated a comprehensive planning process that addresses the needs of all stakeholders (e...
2016: EGEMS
https://www.readbyqxmd.com/read/26792575/novel-ift122-mutations-in-three-argentinian-patients-with-cranioectodermal-dysplasia-expanding-the-mutational-spectrum
#4
Shahida Moosa, Maria Gabriela Obregon, Janine Altmüller, Holger Thiele, Peter Nürnberg, Virginia Fano, Bernd Wollnik
Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is an autosomal recessive ciliary chondrodysplasia characterized by a recognizable craniofacial gestalt, skeletal abnormalities, and ectodermal features. To date, four genes have been shown to underlie the syndrome, namely, IFT122 (WDR10), WDR35 (IFT121), IFT43 (C14orf179), and WDR19 (IFT144). Clinical characterization of a larger cohort of patients with CED has been undertaken previously. Nevertheless, there are too few molecularly confirmed patients reported in the literature to determine precise genotype-phenotype correlations...
May 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26463453/erratum-to-comprehensive-gene-panels-provide-advantages-over-clinical-exome-sequencing-for-mendelian-diseases
#5
(no author information available yet)
No abstract text is available yet for this article.
2015: Genome Biology
https://www.readbyqxmd.com/read/26112015/comprehensive-gene-panels-provide-advantages-over-clinical-exome-sequencing-for-mendelian-diseases
#6
(no author information available yet)
BACKGROUND: To understand the contribution of Mendelian mutations to the burden of undiagnosed diseases that are suspected to be genetic in origin, we developed a next-generation sequencing-based multiplexing assay that encompasses the ~3000 known Mendelian genes. This assay, which we term the Mendeliome, comprises 13 gene panels based on clinical themes, covering the spectrum of pediatric and adult clinical genetic medicine. We explore how these panels compare with clinical whole exome sequencing (WES)...
2015: Genome Biology
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