Fabiola Quintero-Rivera

Fabiola Quintero-Rivera

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Fabiola Quintero-Rivera

Fabiola Quintero-Rivera

Publications by authors named "Fabiola Quintero-Rivera"

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Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis.

Am J Med Genet A 2018 12 23;176(12):2829-2834. Epub 2018 Sep 23.

Department of Obstetrics and Gynecology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.a.40533DOI Listing
December 2018

Triple Hit Lymphoma: Rare Cases With Less Dire Than Usual Prognosis.

Int J Surg Pathol 2016 Dec 29;24(8):709-714. Epub 2016 Jun 29.

University of California Los Angeles, Los Angeles, CA, USA.

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http://dx.doi.org/10.1177/1066896916657409DOI Listing
December 2016

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.

Am J Hum Genet 2016 Nov 13;99(5):1015-1033. Epub 2016 Oct 13.

Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA 02142, USA; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Division of Evolution and Genomic Science, School of Biological Sciences, University of Manchester, Manchester Academic Health Science Center, Manchester 03101, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.08.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097935PMC
November 2016

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.

Am J Hum Genet 2015 Mar 26;96(3):498-506. Epub 2015 Feb 26.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.01.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375619PMC
March 2015

Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects.

Eur J Med Genet 2014 May-Jun;57(6):267-8. Epub 2014 Mar 18.

Division of Genetic Medicine, Department of Pathology & Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.03.004DOI Listing
February 2015

Novel liver findings in ornithine transcarbamylase deficiency due to Xp11.4-p21.1 microdeletion.

Gene 2015 Feb 27;556(2):249-53. Epub 2014 Nov 27.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, UCLA Clinical Genomics Center, Los Angeles, California. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2014.11.057DOI Listing
February 2015

Duodenal atresia in 17q12 microdeletion including HNF1B: a new associated malformation in this syndrome.

Am J Med Genet A 2014 Dec 24;164A(12):3076-82. Epub 2014 Sep 24.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, Los Angeles, California; UCLA Clinical Genomics Center, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.a.36767DOI Listing
December 2014

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

JAMA 2014 Nov;312(18):1880-7

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles2Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles6Department of Human Genetics, David Ge.

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http://dx.doi.org/10.1001/jama.2014.14604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4278636PMC
November 2014

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

JAMA Neurol 2014 Oct;71(10):1237-46

Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles2Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles3UCLA Clin.

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http://dx.doi.org/10.1001/jamaneurol.2014.1944DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4324730PMC
October 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involving SOX10.

Am J Med Genet A 2014 Jun 8;164A(6):1512-9. Epub 2014 Apr 8.

Department of Pathology & Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, UCLA, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.a.36446DOI Listing
June 2014

Ring 2 chromosome associated with failure to thrive, microcephaly and dysmorphic facial features.

Gene 2013 Oct 27;529(1):65-8. Epub 2013 Jul 27.

Departamento de Genética, Hospital Universitario, Facultad de Medicina, UANL, Monterrey, NL, Mexico. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2013.06.056DOI Listing
October 2013

Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry.

Am J Med Genet A 2013 Aug 21;161A(8):1985-91. Epub 2013 Jun 21.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.

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http://dx.doi.org/10.1002/ajmg.a.35895DOI Listing
August 2013

First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities.

Am J Med Genet A 2013 Jul 21;161A(7):1773-8. Epub 2013 May 21.

Department of Pathology, Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, USA.

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http://dx.doi.org/10.1002/ajmg.a.35974DOI Listing
July 2013

Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect.

Am J Med Genet A 2013 May 26;161A(5):1167-72. Epub 2013 Mar 26.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90024, USA.

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http://doi.wiley.com/10.1002/ajmg.a.35847
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http://dx.doi.org/10.1002/ajmg.a.35847DOI Listing
May 2013

Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion.

Am J Med Genet A 2011 Nov 12;155A(11):2871-8. Epub 2011 Oct 12.

Departments of Pediatrics and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.34286DOI Listing
November 2011

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Genet Med 2011 Jul;13(7):680-5

Fullerton Genetics Center, Mission Health System, 267 McDowell St., Asheville, NC 28803, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3182217a3aDOI Listing
July 2011

B-acute lymphoblastic leukemia and cystinuria in a patient with duplication 22q11.21 detected by chromosomal microarray analysis.

Pediatr Blood Cancer 2011 Mar 28;56(3):470-3. Epub 2010 Nov 28.

Division of Hematology-Oncology, David Geffen School of Medicine, University of California, Los Angeles, California, USA.

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http://doi.wiley.com/10.1002/pbc.22909
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http://dx.doi.org/10.1002/pbc.22909DOI Listing
March 2011

Bilateral exophthalmos: Report of a case and review of a fibroblast growth factor receptor 2 mutation associated with non-penetrant Crouzon syndrome.

J Paediatr Child Health 2010 Nov;46(11):693-5

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, California, United States.

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http://dx.doi.org/10.1111/j.1440-1754.2009.01692.xDOI Listing
November 2010

Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review.

Am J Med Genet A 2010 Oct;152A(10):2459-67

Department of Pathology and Laboratory Medicine, University of California, Los Angeles, California 90095, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33573
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http://dx.doi.org/10.1002/ajmg.a.33573DOI Listing
October 2010

Homozygous alpha-thalassemia with trisomy 7 mosaicism in a live-born infant.

Pediatr Hematol Oncol 2009 Sep;26(6):426-31

Department of Pathology, Division of Cytogenetics, Brigham and Women's Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.3109/08880010903044847DOI Listing
September 2009

Frequency of 5'IGH deletions in B-cell chronic lymphocytic leukemia.

Cancer Genet Cytogenet 2009 Apr;190(1):33-9

UCLA Clinical and Molecular Cytogenetics Laboratory, Department of Pathology & Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles, 1000 Veteran Avenue, Los Angeles, CA 90024, USA.

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http://dx.doi.org/10.1016/j.cancergencyto.2008.12.004DOI Listing
April 2009

Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes?

Am J Med Genet A 2007 Aug;143A(15):1796-8

Massachusetts General Hospital, Center for Human Genetic Research, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.31799DOI Listing
August 2007

Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities.

Am J Med Genet A 2007 Mar;143A(6):558-63

Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.31618DOI Listing
March 2007

Apert syndrome: what prenatal radiographic findings should prompt its consideration?

Prenat Diagn 2006 Oct;26(10):966-72

Massachusetts General Hospital Center for Human Genetic Research, Genetics Training Program, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1002/pd.1539DOI Listing
October 2006

Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome.

Am J Med Genet A 2006 Jun;140(12):1337-8

Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://doi.wiley.com/10.1002/ajmg.a.31277
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http://dx.doi.org/10.1002/ajmg.a.31277DOI Listing
June 2006