Alejandro Iglesias

Alejandro Iglesias

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Alejandro Iglesias

Alejandro Iglesias

Publications by authors named "Alejandro Iglesias"

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Pearls & Oy-sters: Adolescent-onset adrenomyeloneuropathy and arrested cerebral adrenoleukodystrophy.

Neurology 2019 07;93(2):81-84

From the Department of Medicine (J.E.L.), University of Illinois at Chicago; Division of Child Neurology, Department of Neurology (J.E.L., E.A.A., A.H., J.M.B.), Division of Medical Genetics, Department of Pediatrics (C.U., A.D.I.), and Department of Anesthesia (J.C.), Columbia University College of Physicians and Surgeons; The Columbia University Irving Medical Center (J.E.L, E.A.A, A.H, J.M.B, C.U., A.D.I, J.J.C); and Division of Child Neurology (E.J.M.), Department of Pediatrics, Weill Cornell Medicine, New York-Presbyterian Hospital, New York.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000007755DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6656648PMC
July 2019

Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

Am J Med Genet A 2017 Dec 22;173(12):3158-3164. Epub 2017 Sep 22.

Department of Pediatrics, Division of Clinical Genetics, Columbia University Medical Center (CUMC), New York, New York.

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http://dx.doi.org/10.1002/ajmg.a.38460DOI Listing
December 2017

A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa.

J Pediatr 2017 12;191:266-269.e1

Department of Pediatrics, Columbia University, New York, NY; Department of Pathology and Cell Biology, Columbia University, New York, NY.

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http://dx.doi.org/10.1016/j.jpeds.2017.08.029DOI Listing
December 2017

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

Mol Genet Metab 2017 11 20;122(3):134-139. Epub 2017 Jul 20.

Department of Neurology, Children's National Health System, Washington, DC, USA; Center For Genetic Medicine, Children's National Health System, Washington, DC, USA; Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA; Department of Integrated Systems Biology and Pediatrics, George Washington University, Washington, DC, USA; Perlman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722655PMC
November 2017

Perioperative Risks of Untreated Obstructive Sleep Apnea in the Bariatric Surgery Patient: a Retrospective Study.

Obes Surg 2016 11;26(11):2779-2780

Intensive Care Unit, Hospital Morales Meseguer, Av. Marqués de los Vélez, s/n, 30008, Murcia, Spain.

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http://link.springer.com/10.1007/s11695-016-2335-5
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http://dx.doi.org/10.1007/s11695-016-2335-5DOI Listing
November 2016

Phenotypic Heterogeneity of Neutropenia and Gastrointestinal Illness Associated with G6PC3 Founder Mutation.

J Pediatr Hematol Oncol 2016 10;38(7):e243-7

*Department of Pediatric Hematology/Oncology, Winthrop University Medical Center, Mineola †Division of Pediatric Gastroenterology, Hepatology, and Nutrition Departments of §Pediatric Hematology, Oncology and Stem Cell Transplantation ‡Pathology, Cell Biology, and Personalized Genomic Medicine ∥Pediatrics, Division of Clinical Genetics, Columbia University Medical center, New York, NY.

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http://dx.doi.org/10.1097/MPH.0000000000000660DOI Listing
October 2016

Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.

Eur J Med Genet 2016 Oct 31;59(10):540-5. Epub 2016 Aug 31.

Department of Pathology and Cell Biology, Columbia University, 630 W, 168th Street, New York, NY 10032, USA; Division of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University Medical Center, USA. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045816PMC
http://dx.doi.org/10.1016/j.ejmg.2016.08.012DOI Listing
October 2016

TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome.

Hum Mutat 2016 Feb 23;37(2):155-9. Epub 2015 Nov 23.

Department of Genetics, Yale University, School of Medicine, P.O. Box 208005, SHM I-142D, 333 Cedar Street, New Haven, CT, 06520.

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http://dx.doi.org/10.1002/humu.22925DOI Listing
February 2016

Staging and outcome in acute exacerbation of idiopathic pulmonary fibrosis: are all limits and determinants under control?

Lung 2015 Feb 14;193(1):155-6. Epub 2014 Oct 14.

Intensive Care Unit and Non Invasive Ventilatory Unit, Hospital Morales Meseguer, Avenida Marques Vélez s/n, 30008, Murcia, Spain,

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http://dx.doi.org/10.1007/s00408-014-9656-8DOI Listing
February 2015

The usefulness of whole-exome sequencing in routine clinical practice.

Genet Med 2014 Dec 5;16(12):922-31. Epub 2014 Jun 5.

1] Division of Molecular Genetics, Department of Pediatrics, Columbia University Medical Center, New York, New York, USA [2] Department of Medicine, Columbia University Medical Center, New York, New York, USA.

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http://dx.doi.org/10.1038/gim.2014.58DOI Listing
December 2014

Validation of a method to quantify titanium, vanadium and zirconium in oral mucosa cells by inductively coupled plasma-mass spectrometry (ICP-MS).

Talanta 2014 Jan 23;118:238-44. Epub 2013 Oct 23.

Stomatology Department, School of Dentistry, University of Seville, C/Avicena sn, C.P. 41009, Seville, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.talanta.2013.10.035DOI Listing
January 2014

Volumetric-modulated arc therapy with RapidArc(®): An evaluation of treatment delivery efficiency.

Rep Pract Oncol Radiother 2013 Aug 17;18(6):383-6. Epub 2013 Aug 17.

Innovative Cancer Institute, 6141 Sunset Drive, Suite 102, South Miami, FL 33143, USA.

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http://dx.doi.org/10.1016/j.rpor.2013.07.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3863300PMC
August 2013

Duplication of distal 20q: clinical, cytogenetic and array CGH. Characterization of a new case.

Clin Dysmorphol 2006 Jan;15(1):19-23

Division of Genetics, Department of Pediatrics, Beth Israel Medical Center, New York, and Division of Medical Genetics, Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, USA.

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http://dx.doi.org/10.1097/01.mcd.0000184969.84280.e1DOI Listing
January 2006

Altered expression of an ankyrin-repeat protein results in leaf abnormalities, necrotic lesions, and the elaboration of a systemic signal.

Plant Mol Biol 2004 Nov 24;56(5):717-30. Epub 2005 Mar 24.

The Friedrich Miescher Institute for Biomedical Research, Maulbeerstrasse 66, CH-4058 Basel, Switzerland.

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http://dx.doi.org/10.1007/s11103-004-4679-9DOI Listing
November 2004