Ariel F Martinez

Ariel F Martinez

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Ariel F Martinez

Ariel F Martinez

Publications by authors named "Ariel F Martinez"

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Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population.

Eur J Med Genet 2020 Feb 25;63(2):103643. Epub 2019 Mar 25.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183059
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http://dx.doi.org/10.1016/j.ejmg.2019.03.007DOI Listing
February 2020

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.

Am J Hum Genet 2020 Jan 26;106(1):121-128. Epub 2019 Dec 26.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, M5G 1X5, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada.

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http://dx.doi.org/10.1016/j.ajhg.2019.12.004DOI Listing
January 2020

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.

Bone 2020 Jan 7;133:115219. Epub 2020 Jan 7.

Department of Pediatric Genetics, Akdeniz University Medical School, 07059 Antalya, Turkey; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.115219DOI Listing
January 2020

Novel heterozygous variants in KMT2D associated with holoprosencephaly.

Clin Genet 2019 Sep 15;96(3):266-270. Epub 2019 Jul 15.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1111/cge.13598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6690755PMC
September 2019

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly.

Am J Hum Genet 2019 05 18;104(5):990-993. Epub 2019 Apr 18.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506867PMC
May 2019

Low-level parental mosaicism affects the recurrence risk of holoprosencephaly.

Genet Med 2019 04 10;21(4):1015-1020. Epub 2018 Sep 10.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://www.nature.com/articles/s41436-018-0261-8
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http://dx.doi.org/10.1038/s41436-018-0261-8DOI Listing
April 2019

Clinical and Demographic Evaluation of a Holoprosencephaly Cohort From the Kyoto Collection of Human Embryos.

Anat Rec (Hoboken) 2018 06 16;301(6):973-986. Epub 2018 Apr 16.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ar.23791DOI Listing
June 2018

Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly.

Am J Med Genet C Semin Med Genet 2018 06 15;178(2):246-257. Epub 2018 May 15.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.c.31616DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6125181PMC
June 2018

Molecular testing in holoprosencephaly.

Am J Med Genet C Semin Med Genet 2018 06 17;178(2):187-193. Epub 2018 May 17.

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.c.31617DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6125165PMC
June 2018

Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.

Am J Med Genet C Semin Med Genet 2018 06;178(2):175-186

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.c.31622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127867PMC
June 2018

SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly.

Congenit Anom (Kyoto) 2018 Jan 1;58(1):29-32. Epub 2017 Aug 1.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1111/cga.12234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5750110PMC
January 2018

Neural Plasticity in Obesity and Psychiatric Disorders.

Neural Plast 2016 7;2016:6053871. Epub 2016 Apr 7.

Genomics and Predictive Medicine Group, Department of Genome Sciences, John Curtin School of Medical Research, The Australian National University, Canberra, ACT 2601, Australia.

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http://dx.doi.org/10.1155/2016/6053871DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4838784PMC
December 2016

An Ultraconserved Brain-Specific Enhancer Within ADGRL3 (LPHN3) Underpins Attention-Deficit/Hyperactivity Disorder Susceptibility.

Biol Psychiatry 2016 12 14;80(12):943-954. Epub 2016 Jul 14.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1016/j.biopsych.2016.06.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5108697PMC
December 2016

ADGRL3 (LPHN3) variants are associated with a refined phenotype of ADHD in the MTA study.

Mol Genet Genomic Med 2016 Sep 18;4(5):540-7. Epub 2016 Jul 18.

Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland.

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http://dx.doi.org/10.1002/mgg3.230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023939PMC
September 2016

Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.

Am J Med Genet A 2015 Nov 6;167A(11):2657-63. Epub 2015 Aug 6.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37259DOI Listing
November 2015

Analysis of renal anomalies in VACTERL association.

Birth Defects Res A Clin Mol Teratol 2014 Oct 5;100(10):801-5. Epub 2014 Sep 5.

Department of Pediatrics, Walter Reed National Military Medical Center-Bethesda, Maryland; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/bdra.23302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4211938PMC
October 2014

From the black widow spider to human behavior: Latrophilins, a relatively unknown class of G protein-coupled receptors, are implicated in psychiatric disorders.

Am J Med Genet B Neuropsychiatr Genet 2011 Jan 12;156B(1):1-10. Epub 2010 Nov 12.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/ajmg.b.31137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4101183PMC
January 2011

Pharmacogenetic impact of VKORC1 and CYP2C9 allelic variants on warfarin dose requirements in a hispanic population isolate.

Clin Appl Thromb Hemost 2010 Feb 29;16(1):83-90. Epub 2009 Jun 29.

Instituto de Biología, Grupo de Genética de Poblaciones y Mutacarcinogénesis, Sede de Investigación Universitaria, Universidad de Antioquia, Medellin, Colombia.

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http://dx.doi.org/10.1177/1076029608330472DOI Listing
February 2010

Identification of NFAT binding sites that mediate stimulation of cathepsin K promoter activity by RANK ligand.

Gene 2009 Oct 27;446(2):90-8. Epub 2009 Jun 27.

Geriatrics Research, Education and Clinical Center and Research Service, Miami Veterans Affairs Healthcare System, Miami, FL 33125, USA.

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http://dx.doi.org/10.1016/j.gene.2009.06.013DOI Listing
October 2009

AP-1 stimulates the cathepsin K promoter in RAW 264.7 cells.

Gene 2007 Nov 25;403(1-2):151-8. Epub 2007 Aug 25.

Geriatrics Research, Education and Clinical Center & Research Service, Miami Veterans Affairs Medical Center, Miami FL 33125, United States.

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http://dx.doi.org/10.1016/j.gene.2007.08.007DOI Listing
November 2007

RANK ligand and interferon gamma differentially regulate cathepsin gene expression in pre-osteoclastic cells.

Biochem Biophys Res Commun 2005 Mar;328(3):756-63

Geriatric Research, Education, and Clinical Center, and Research Service, Miami Veterans Affairs Medical Center, Miami, FL 33125, USA.

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http://dx.doi.org/10.1016/j.bbrc.2004.12.005DOI Listing
March 2005