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1

Localización cromosómica de duplicaciones submicroscópicas en pacientes con trastornos del neurodesarrollo para identificar casos con alto riesgo de recurrencia familiar

López-Carrasco, Amparo, Monfort, Sandra, Roselló, Mónica, Oltra, Silvestre, Mayo, Sonia, Martínez, Francisco, Orellana, Carmen

Journal:

Medicina Clínica

Year:

2014

File:

PDF, 1.00 MB

2014

2

New biocomposites based on thermoplastic starch and bacterial cellulose

Ivo M.G. Martins, Sandra P. Magina, Lúcia Oliveira, Carmen S.R. Freire, Armando J.D. Silvestre, Carlos Pascoal Neto, Alessandro Gandini

Journal:

Composites Science and Technology

Year:

2009

Language:

english

File:

PDF, 624 KB

english, 2009

3

Light harvesting photovoltaic mini-generator

Sandra Bermejo, Santiago Silvestre, Pablo Ortega, Gerard Herrera

Journal:

Progress in Photovoltaics: Research and Applications

Year:

2012

Language:

english

File:

PDF, 661 KB

english, 2012

4

Dental management in patients with cirrhosis

Rodríguez Martínez, Sandra, Talaván Serna, Julio, Silvestre, Francisco-Javier

Journal:

Gastroenterología y Hepatología (English Edition)

Year:

2016

Language:

english

File:

PDF, 572 KB

english, 2016

5

How is agroforestry perceived in Europe? An assessment of positive and negative aspects by stakeholders

García de Jalón, Silvestre, Burgess, Paul J., Graves, Anil, Moreno, Gerardo, McAdam, Jim, Pottier, Eric, Novak, Sandra, Bondesan, Valerio, Mosquera-Losada, Rosa, Crous-Durán, Josep, Palma, Joao H. N.,

Journal:

Agroforestry Systems

Year:

2017

Language:

english

File:

PDF, 697 KB

english, 2017

6

Effects of processing on the chemical, physicochemical, enzymatic and volatile metabolic composition of pitaya (Hylocereus polyrhizus (F.A.C. Weber) Britton & Rose)

Batista Moreira Santos, Glauber, Paula Dionísio, Ana, César Rodrigues Magalhães, Hilton, Antonio Pinto de Abreu, Fernando, Machado Lira, Sandra, Carolina Viana de Lima, Ana, Silvestre da Silva, Gisele

Journal:

Food Research International

Year:

2019

Language:

english

File:

PDF, 1020 KB

english, 2019

7

Localization of MRX82: A new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family

Francisco Martínez, Isabel Martínez-Garay, Silvestre Oltra, María Dolores Moltó, Carmen Orellana, Sandra Monfort, Félix Prieto, Isabel Tejada

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 99 KB

english, 2004

8

Duplication of 14q11.2 associates with short stature and mild mental retardation: A putative relation with quantitative trait loci

Sandra Monfort, David Blesa, Mónica Roselló, Carmen Orellana, Silvestre Oltra, Juan Cruz Cigudosa, Francisco Martínez

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 105 KB

english, 2007

9

Novel UBE3A mutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions

Cristina Camprubí, Miriam Guitart, Elisabeth Gabau, Maria Dolors Coll, Sergi Villatoro, Silvestre Oltra, Monica Roselló, Irene Ferrer, Sandra Monfort, Carmen Orellana, Francisco Martínez

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 148 KB

english, 2009

10

Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies

Francisco Martínez, Sandra Monfort, Mónica Roselló, Silvestre Oltra, David Blesa, Ramiro Quiroga, Sonia Mayo, Carmen Orellana

Journal:

BMC Medical Genomics

Year:

2010

Language:

english

File:

PDF, 238 KB

english, 2010

11

Factors conditioning the camera-trapping efficiency for the Iberian lynx (Lynx pardinus)

Francisco Guil, Sandra Agudín, Nuria El-Khadir, Mariana Fernandez-Olalla, Juan Figueredo, Francisco G. Domínguez, Paloma Garzon, Gregorio Gonzalez, Jaime Muñoz-Igualada, Javier Oria, Fernando Silvestr

Journal:

European Journal of Wildlife Research

Year:

2010

Language:

english

File:

PDF, 185 KB

english, 2010

12

Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome

Frank Oeffner, Francisco Martinez, Julie Schaffer, Aïcha Salhi, Sandra Monfort, Silvestre Oltra, Ulrike Neidel, Dorothea Bornholdt, Bregje van Bon, Arne König, Rudolf Happle, Karl-Heinz Grzeschik

Journal:

Experimental Dermatology

Year:

2011

Language:

english

File:

PDF, 135 KB

english, 2011

13

Bismuth compounds in medicinal chemistry

Salvador, Jorge AR, Figueiredo, Sandra AC, Pinto, Rui MA, Silvestre, Samuel M

Journal:

Future Medicinal Chemistry

Year:

2012

Language:

english

File:

PDF, 2.51 MB

english, 2012

14

Large deletion in the Factor VIII gene (F8) involving segmental duplications in int22h shows no haematological phenotype in female carriers, but may be embryonic lethal in males

Pilar Casaña, Sonia Mayo, Sandra Monfort, Carmen Orellana, Saturnino Haya, Ana R. Cid, Monica Roselló, Silvestre Oltra, Francisco Martínez

Journal:

British Journal of Haematology

Year:

2012

Language:

english

File:

PDF, 128 KB

english, 2012

15

Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features

Mayo, Sonia, Garin, Intza, Monfort, Sandra, Roselló, Mónica, Orellana, Carmen, Oltra, Silvestre, Zazo, Celia, de Naclares, Guiomar Perez, Martínez, Francisco

Journal:

Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 253 KB

english, 2012

16

Physiological effects of copper in the euryhaline copepod Acartia tonsa: Waterborne versus waterborne plus dietborne exposure

Grasiela Lopes Leães Pinho, Mariana Saia Pedroso, Sandra Carvalho Rodrigues, Sandra Silvestre de Souza, Adalto Bianchini

Journal:

Aquatic Toxicology

Year:

2007

Language:

english

File:

PDF, 536 KB

english, 2007

17

Prenatal study of common submicroscopic “genomic disorders” using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimester

Mónica Roselló, Irene Ferrer-Bolufer, Sandra Monfort, Silvestre Oltra, Ramiro Quiroga, Francisco Martínez, Marisa Gonzalvo, Amparo Benac, Alfredo Perales, Carmen Orellana

Journal:

European Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 112 KB

english, 2010

18

Effect of nmda antagonists on the activity ofglutaminase and aspartate aminotransferase in thedeveloping rat cerebellum

Julio Moran, Silvestre Alavez, Maritza Rivera-gaxiola, Antonio Valencia, Sandra Hurtado

Journal:

International Journal of Developmental Neuroscience

Year:

1999

Language:

english

File:

PDF, 465 KB

english, 1999

19

Deleción subtelomérica 9qter: definición del síndrome y origen parental en 2 pacientes

Mónica Roselló, Sandra Monfort, Carmen Orellana, Silvestre Oltra, Isabel Martínez Garay, Francisco Martínez

Journal:

Medicina Clínica

Year:

2007

File:

PDF, 168 KB

2007

20

Rapid Screening of ASXL1, IDH1, IDH2, and c-CBL Mutations in de Novo Acute Myeloid Leukemia by High-Resolution Melting

Mariam Ibáñez, Esperanza Such, José Cervera, Irene Luna, Inés Gómez-Seguí, María López-Pavía, Sandra Dolz, Eva Barragán, Oscar Fuster, Marta Llop, Rebeca Rodríguez-Veiga, Amparo Avaria, Silvestre Oltr

Journal:

The Journal of Molecular Diagnostics

Year:

2012

Language:

english

File:

PDF, 1.27 MB

english, 2012

21

Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements

Sandra Monfort, Carmen Orellana, Silvestre Oltra, Mónica RosellÓ, Miriam Guitart, Francisco Martínez

Journal:

Journal of Laboratory and Clinical Medicine

Year:

2006

Language:

english

File:

PDF, 219 KB

english, 2006

22

Efecto del cizallamiento y del difosfato de adenosina sobre la activación plaquetaria y la formación de microagregados en controles sanos. Valoración mediante citometría de flujo

Sandra Dolz Giménez, Marcial Martínez Silvestre

Journal:

Revista del Laboratorio Clínico

Year:

2009

File:

PDF, 143 KB

2009

23

Design, synthesis and biological activity of a targeted library of potential tryptase inhibitors

Garc�a, M�nica, del R�o, Xavier, Silvestre, Sandra, Rubiralta, Mario, Lozoya, Estrella, Segarra, Victor, Fern�ndez, Dolors, Miralpeix, Montserrat, Aparici, M�nica, Diez, Anna

Journal:

Organic & Biomolecular Chemistry

Year:

2004

Language:

english

File:

PDF, 414 KB

english, 2004

24

Effect of the extraction process on the phenolic compounds profile and the antioxidant and antimicrobial activity of extracts of pecan nut [Carya illinoinensis (Wangenh) C. Koch] shell

do Prado, Ana Cristina Pinheiro, da Silva, Helen Silvestre, da Silveira, Sheila Mello, Barreto, Pedro Luiz Manique, Vieira, Cleide Rosana Werneck, Maraschin, Marcelo, Ferreira, Sandra Regina Salvador,

Journal:

Industrial Crops and Products

Year:

2014

Language:

english

File:

PDF, 1.86 MB

english, 2014

25

Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene

Martínez, Francisco, Roselló, Mónica, Mayo, Sonia, Monfort, Sandra, Oltra, Silvestre, Orellana, Carmen

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 579 KB

english, 2014

26

Atypical phenotype in two patients with LAMA2 mutations

Marques, Joana, Duarte, Sofia T., Costa, Sónia, Jacinto, Sandra, Oliveira, Jorge, Oliveira, Márcia E., Santos, Rosário, Bronze-da-Rocha, Elsa, Silvestre, Ana Rita, Calado, Eulália, Evangelista, Teresi

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 1.61 MB

english, 2014

27

High voltage ultrathin-photovoltaic minimodules: Fabrication technology and application to bioimplantable telesupplying

Bermejo, Sandra, Silvestre, Santiago, Ortega, Pablo

Journal:

Microelectronic Engineering

Year:

2014

Language:

english

File:

PDF, 1.69 MB

english, 2014

28

Phenotype profiling of patients with intellectual disability and copy number variations

Roselló, Mónica, Martínez, Francisco, Monfort, Sandra, Mayo, Sonia, Oltra, Silvestre, Orellana, Carmen

Journal:

European Journal of Paediatric Neurology

Year:

2014

Language:

english

File:

PDF, 468 KB

english, 2014

29

WT1 isoform expression pattern in acute myeloid leukemia

Luna, Irene, Such, Esperanza, Cervera, Jose, Barragán, Eva, Ibañez, Mariam, Gómez-Seguí, Inés, López-Pavía, María, Llop, Marta, Fuster, Oscar, Dolz, Sandra, Oltra, Silvestre, Alonso, Carmen, Vera, Bel

Journal:

Leukemia Research

Year:

2013

Language:

english

File:

PDF, 956 KB

english, 2013

30

Robust, Easy, and Dose-Sensitive Methylation Test for the Diagnosis of Prader–Willi and Angelman Syndromes

Martínez, Francisco, León, Ana María, Monfort, Sandra, Oltra, Silvestre, Roselló, Mónica, Orellana, Carmen

Journal:

Genetic Testing

Year:

2006

Language:

english

File:

PDF, 112 KB

english, 2006

31

A 22-Year-Old Community Advisory Board: Health Research as an Opportunity for Social Change

Silvestre, Anthony J., Quinn, Sandra J., Rinaldo, Charles R.

Journal:

Journal of Community Practice

Year:

2010

Language:

english

File:

PDF, 145 KB

english, 2010

32

VT-NMR and cytotoxic evaluation of some new ortho-(alkylchalcogen)acetanilides

Ramos, Susana S., Almeida, Sandra S., Leite, Paula M., Boto, Renato E.F., Silvestre, Samuel, Almeida, Paulo

Journal:

Year:

2014

Language:

english

File:

PDF, 652 KB

english, 2014

33

Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome

Orellana, Carmen, Roselló, Mónica, Monfort, Sandra, Mayo, Sonia, Oltra, Silvestre, Martínez, Francisco

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 5.28 MB

english, 2015

34

Plastic Surgery Residency Websites

Silvestre, Jason, Tomlinson-Hansen, Sandra, Fosnot, Joshua, Taylor, Jesse A.

Journal:

Annals of Plastic Surgery

Year:

2014

Language:

english

File:

PDF, 527 KB

english, 2014

35

Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder

Mayo, Sonia, Roselló, Mónica, Monfort, Sandra, Oltra, Silvestre, Orellana, Carmen, Martínez, Francisco

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 89 KB

english, 2015

36

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes

Martinez, Francisco, Marín-Reina, Purificación, Sanchis-Calvo, Amparo, Perez-Aytés, Antonio, Oltra, Silvestre, Roselló, Mónica, Mayo, Sonia, Monfort, Sandra, Pantoja, Jorge, Orellana, Carmen

Journal:

Pediatric Research

Year:

2015

Language:

english

File:

PDF, 1.64 MB

english, 2015

37

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome

Preiksaitiene, Egle, Caro, Alfonso, Benušienė, Eglė, Oltra, Silvestre, Orellana, Carmen, Morkūnienė, Aušra, Roselló, Mónica Pilar, Kasnauskiene, Jurate, Monfort, Sandra, Kučinskas, Vaidutis, Mayo, Son

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1.75 MB

english, 2015

38

A Remorin Protein Interacts with Symbiotic Receptors and Regulates Bacterial Infection

Benoit Lefebvre, Ton Timmers, Malick Mbengue, Sandra Moreau, Christine Hervé, Katalin Tóth, Joana Bittencourt-Silvestre, Dörte Klaus, Laurent Deslandes, Laurence Godiard, Jeremy D. Murray, Michael K.

Journal:

Proceedings of the National Academy of Sciences

Year:

2010

Language:

english

File:

PDF, 1.58 MB

english, 2010

39

Manejo odontológico en el paciente cirrótico

Rodríguez Martínez, Sandra, Talaván Serna, Julio, Silvestre, Francisco-Javier

Journal:

Gastroenterología y Hepatología

Year:

2015

File:

PDF, 587 KB

2015

40

An Analysis of Combined and Integrated Plastic Surgery Residency Websites

Silvestre, Jason, Tomlinson-Hansen, Sandra, Fosnot, Joshua, Taylor, Jesse A.

Journal:

Plastic & Reconstructive Surgery

Year:

2014

Language:

english

File:

PDF, 126 KB

english, 2014

41

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

Caro-Llopis, Alfonso, Rosello, Monica, Orellana, Carmen, Oltra, Silvestre, Monfort, Sandra, Mayo, Sonia, Martinez, Francisco

Journal:

Pediatric Research

Year:

2016

Language:

english

File:

PDF, 3.84 MB

english, 2016

42

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

Martínez, Francisco, Caro-Llopis, Alfonso, Roselló, Mónica, Oltra, Silvestre, Mayo, Sonia, Monfort, Sandra, Orellana, Carmen

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 235 KB

english, 2017

43

Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS

Regateiro, Frederico S., Belkaya, Serkan, Neves, Nélson, Ferreira, Sandra, Silvestre, Paula, Lemos, Sónia, Venâncio, Margarida, Casanova, Jean-Laurent, Gonçalves, Isabel, Jouanguy, Emmanuelle, Diogo,

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 980 KB

english, 2017

44

Oleanane-, ursane-, and quinone methide friedelane-type triterpenoid derivatives: Recent advances in cancer treatment

Salvador, Jorge A.R., Leal, Ana S., Valdeira, Ana S., Gonçalves, Bruno M.F., Alho, Daniela P.S., Figueiredo, Sandra A.C., Silvestre, Samuel M., Mendes, Vanessa I.S.

Journal:

European Journal of Medicinal Chemistry

Year:

2017

Language:

english

File:

PDF, 3.64 MB

english, 2017

45

Levels of serum retinol binding protein 4 before and after non-surgical periodontal treatment in lean and obese subjects: an interventional study

Martínez-Herrera, Mayte, Silvestre, Francisco Javier, Silvestre-Rangil, Javier, López-Domènech, Sandra, Bañuls, Celia, Rocha, Milagros

Journal:

Journal of Clinical Periodontology

Year:

2017

Language:

english

File:

PDF, 231 KB

english, 2017

46

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability

Mayo, Sonia, Monfort, Sandra, Roselló, Mónica, Orellana, Carmen, Oltra, Silvestre, Caro-Llopis, Alfonso, Martínez, Francisco

Journal:

International Journal of Genomics

Year:

2017

Language:

english

File:

PDF, 2.67 MB

english, 2017

47

Multivariate study and regression analysis of gluten-free granola

Pagamunici, Lilian Maria, Souza, Aloisio Henrique Pereira de, Gohara, Aline Kirie, Silvestre, Alline Aparecida Freitas, Visentainer, Jesuí Vergílio, Souza, Nilson Evelázio de, Gomes, Sandra Terezinha

Journal:

Food Science and Technology (Campinas)

Year:

2014

Language:

english

File:

PDF, 942 KB

english, 2014

48

Chronic periodontitis impairs polymorphonuclear leukocyte-endothelium cell interactions and oxidative stress in humans

Martinez-Herrera, Mayte, López-Domènech, Sandra, Silvestre, Francisco Javier, Silvestre-Rangil, Javier, Bañuls, Celia, Victor, Victor M, Rocha, Milagros

Journal:

Journal of Clinical Periodontology

Year:

2018

Language:

english

File:

PDF, 498 KB

english, 2018

49

Dietary therapy and non-surgical periodontal treatment in obese patients with chronic periodontitis

Martinez-Herrera, Mayte, López-Domènech, Sandra, Silvestre, Francisco Javier, Silvestre-Rangil, Javier, Bañuls, Celia, Hernández-Mijares, Antonio, Rocha, Milagros

Journal:

Journal of Clinical Periodontology

Year:

2018

Language:

english

File:

PDF, 583 KB

english, 2018

50

Precision medicine in relapsed or refractory pediatric solid tumors: a collaborative Spanish initiative

Gargallo, Pablo, Font de Mora, Jaime, Berlanga, Pablo, Calabria, Inés, Llavador, Margarita, Pedrola, Laia, Panadero, Joaquín, Dolz, Sandra, Zúñiga, Ángel, Oltra, Juan Silvestre, Escobar, Paloma, Yáñez

Journal:

Translational Medicine Communications

Year:

2019

Language:

english

File:

PDF, 2.25 MB

english, 2019