Ariel F. Martinez, PhD, MB(ASCP)
Ariel F. Martinez, PhD, MB(ASCP)
National Human Genome Research Institute
Adresse e-mail validée de nih.gov
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Characterization of the mucosal and systemic immune response induced by Cry1Ac protein from Bacillus thuringiensis HD 73 in mice
RI Vazquez-Padron, L Moreno-Fierros, L Neri-Bazan, AF Martinez-Gil, ...
Brazilian Journal of Medical and Biological Research 33 (2), 147-155, 2000
1032000
AP-1 stimulates the cathepsin K promoter in RAW 264.7 cells
M Pang, AF Martinez, I Fernandez, W Balkan, BR Troen
Gene 403 (1-2), 151-158, 2007
592007
Identification of NFAT binding sites that mediate stimulation of cathepsin K promoter activity by RANK ligand
W Balkan, AF Martinez, I Fernandez, MA Rodriguez, M Pang, BR Troen
Gene 446 (2), 90-98, 2009
542009
RANK ligand and interferon gamma differentially regulate cathepsin gene expression in pre-osteoclastic cells
M Pang, AF Martinez, J Jacobs, W Balkan, BR Troen
Biochemical and biophysical research communications 328 (3), 756-763, 2005
502005
De novo mutations in CHD4, an ATP-dependent chromatin remodeler gene, cause an intellectual disability syndrome with distinctive dysmorphisms
K Weiss, PA Terhal, L Cohen, M Bruccoleri, M Irving, AF Martinez, ...
The American Journal of Human Genetics 99 (4), 934-941, 2016
482016
From the black widow spider to human behavior: Latrophilins, a relatively unknown class of G protein‐coupled receptors, are implicated in psychiatric disorders
AF Martinez, M Muenke, M Arcos‐Burgos
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156 …, 2011
322011
Pooling/bootstrap-based GWAS (pb GWAS) identifies new loci modifying the age of onset in PSEN1 p. Glu280Ala Alzheimer's disease
JI Vélez, SC Chandrasekharappa, E Henao, AF Martinez, U Harper, ...
Molecular psychiatry 18 (5), 568-575, 2013
312013
An Ultraconserved Brain-Specific Enhancer Within ADGRL3 (LPHN3) Underpins Attention-Deficit/Hyperactivity Disorder Susceptibility
AF Martinez, Y Abe, S Hong, K Molyneux, D Yarnell, H Löhr, W Driever, ...
Biological psychiatry 80 (12), 943-954, 2016
292016
GWAS reveals new recessive loci associated with non-syndromic facial clefting
M Camargo, D Rivera, L Moreno, AC Lidral, U Harper, M Jones, ...
European journal of medical genetics 55 (10), 510-514, 2012
292012
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome
P Kruszka, D Li, MH Harr, NR Wilson, D Swarr, EM McCormick, ...
Journal of medical genetics 52 (2), 104-110, 2015
282015
Molecular epidemiology of Kaposi's sarcoma herpesvirus (KSHV) in Cuban and German patients with Kaposi's sarcoma (KS) and asymptomatic sexual contacts
V Kouri, A Marini, R Doroudi, S Nambiar, ME Rodriguez, V Capo, S Resik, ...
Virology 337 (2), 297-303, 2005
272005
Pharmacogenetic impact of VKORC1 and CYP2C9 allelic variants on warfarin dose requirements in a hispanic population isolate
L Palacio, D Falla, I Tobon, F Mejia, JE Lewis, AF Martinez, ...
Clinical and Applied Thrombosis/Hemostasis 16 (1), 83-90, 2010
262010
Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature
YA Addissie, U Kotecha, RA Hart, AF Martinez, P Kruszka, M Muenke
American Journal of Medical Genetics Part A 167 (11), 2657-2663, 2015
232015
Analysis of renal anomalies in VACTERL association
BK Cunningham, A Khromykh, AF Martinez, T Carney, DW Hadley, ...
Birth Defects Research Part A: Clinical and Molecular Teratology 100 (10 …, 2014
202014
ADGRL3 (LPHN3) variants are associated with a refined phenotype of ADHD in the MTA study
MT Acosta, J Swanson, A Stehli, BSG Molina, MTA Team, AF Martinez, ...
Molecular genetics & genomic medicine 4 (5), 540-547, 2016
182016
Potential cognitive endophenotypes in multigenerational families: segregating ADHD from a genetic isolate
DA Pineda, F Lopera, IC Puerta, N Trujillo-Orrego, DC Aguirre-Acevedo, ...
ADHD attention deficit and hyperactivity disorders 3 (3), 291, 2011
162011
Biochemical characterization of the third domain From Bacillus thuringiensis CRY1A Toxins
RI Vázquez‐Padrón, AF Martínez‐Gil, C Ayra‐Pardo, ...
IUBMB Life 45 (5), 1011-1020, 1998
151998
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics
K Weiss, P Kruszka, MJG Sacoto, YA Addissie, DW Hadley, CK Hadsall, ...
Genetics in Medicine 20 (1), 14-23, 2018
142018
Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?
P Kruszka, A Uwineza, L Mutesa, AF Martinez, Y Abe, EH Zackai, ...
Molecular genetics & genomic medicine 3 (5), 424-432, 2015
142015
Linkage and association analysis of ADHD endophenotypes in extended and multigenerational pedigrees from a genetic isolate
CA Mastronardi, E Pillai, DA Pineda, AF Martinez, F Lopera, JI Velez, ...
Molecular psychiatry 21 (10), 1434-1440, 2016
132016
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