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Genetics Medicine

The Genetics Medicine group of the VHIR belongs to the Clinical and Molecular Genetic Area of the Hospital Vall d’Hebron and combines genetic diagnosis and translational research in hereditary diseases and the study of pathologies and malformations during human development.

The group actively works in different consortiums and networks for rare disorders including ERN Ithaca, Cranio, Bond and NMD.

Specific research lines and teams include:

  • Neuromuscular development, genetics and molecular therapy for spinal muscular atrophy.
  • Genetic and functional evaluation of CFTR pathogenic variants in cystic fibrosis patients treated with modulators. 
  • Genetic bases of mental retardation, CNS malformations and autism spectrum disorders.
  • Epigenetic disorders secondary to alterations in the methylation of chromosomal regions subjected to imprinting.
  • Genetic bases of aortic pathology, RASopathies, 22q11.2 deletions and duplications,  tuberous sclerosis, disorders of sexual differentiation, hypothyroidism, growth disorders, skeletal dysplasias, cleft lip and palate.
  • Better phenotype delineations and genomic approach of rare and ultra-rare genetic syndromes including fetal pathology and malformations.
  • Development and validation of new tools and strategies for genetic diagnosis.

Team

Marta Garrido Pontnou

Marta Garrido Pontnou

Genetics Medicine
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Campos Estela, Berta

Campos Estela, Berta

Research assistant
Genetics Medicine
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Fuentes Prior, Pablo

Fuentes Prior, Pablo

Predoctoral researcher
Genetics Medicine
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Lasa Aranzasti, Amaia

Lasa Aranzasti, Amaia

Research technician
Genetics Medicine
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Lourdes Trobo Redondo

Lourdes Trobo Redondo

Research technician
Genetics Medicine
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Masotto , Barbara

Masotto , Barbara

Predoctoral researcher
Genetics Medicine
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Marta Garrido Pontnou

Marta Garrido Pontnou

Genetics Medicine
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Campos Estela, Berta

Campos Estela, Berta

Research assistant
Genetics Medicine
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Fuentes Prior, Pablo

Fuentes Prior, Pablo

Predoctoral researcher
Genetics Medicine
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Lasa Aranzasti, Amaia

Lasa Aranzasti, Amaia

Research technician
Genetics Medicine
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Lourdes Trobo Redondo

Lourdes Trobo Redondo

Research technician
Genetics Medicine
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Masotto , Barbara

Masotto , Barbara

Predoctoral researcher
Genetics Medicine
Read more

Research lines

Fetal Alcohol Syndrome

IP: -

Genetic bases of heart diseases

IP: -

Genetic bases of the congenital adrenal hyperplasia

IP: -

Genetic basis of mental retardation, malformations and autism spectrum disorders (ASD)

IP: -

Projects

Pendent

IP: Tizzano , Eduardo Fidel
Collaborators: Martínez Gil, Núria, Izquierdo Sans , Miriam, Perez Lasarte, Laia
Funding agency: Ministerio de Ciencia e Innovación-MICINN
Funding: 64800
Reference: FJC2021-046715-I
Duration: 01/01/2023 - 31/12/2024

Ministerio de Ciencia

SMA beyond motoneuron degeneration: multi-system aspects - SMABEYOND

IP: Tizzano , Eduardo Fidel
Collaborators: Lindner , Georg
Funding agency: EUROPEAN COMMISSION
Funding: 250904.88
Reference: SMABEYOND_MSCA-ITN_H2020-2019
Duration: 01/10/2020 - 30/09/2024

Detection of structural genetic factors modifying the phenotype in a population with congenital defects.

IP: Plaja Rustein, Alberto
Collaborators: Cueto Gonzalez, Anna Maria
Funding agency: Instituto de Salud Carlos III
Funding: 123420
Reference: PI20/01767
Duration: 01/01/2021 - 30/06/2025

Trastornos del movimiento en la edad pediátrica

IP: Perez Dueñas, Belen
Collaborators: Gonzalez Martinez, Maria Victoria, Ainara Salazar Villacorta, Cazurro Gutierrez, Ana Laura, Lasa Aranzasti, Amaia
Funding agency: Instituto de Salud Carlos III
Funding: 125840
Reference: PI21/00248
Duration: 01/01/2022 - 31/12/2024

Publications

Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.

PMID: 36959467
Journal: JOURNAL OF HUMAN GENETICS
Year: 2023
Reference: J Hum Genet. 2023 Aug;68(8):527-532. doi: 10.1038/s10038-023-01144-2. Epub 2023 Mar 23.
Impact factor:
Publication type: Paper in international publication
Authors: Codina-Sola, Marta; Garcia-Arumi, Elena; Juntas-Morales, Raul; Llaurado, Arnau; Marti, Ramon; Martinez-Saez, Elena; Ramon, Javier; Restrepo-Vera, Juan Luis; Rovira-Moreno, Eulalia; Salvado, Maria et al.
DOI: 10.1038/s10038-023-01144-2

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

PMID: 36976648
Journal: JOURNAL OF CLINICAL INVESTIGATION
Year: 2023
Reference: J Clin Invest. 2023 May 15;133(10):e165019. doi: 10.1172/JCI165019.
Impact factor:
Publication type: Paper in international publication
Authors: Abriata, Luciano A; Adeyemi, Adekemi M; Armengol, Lluis; Bain, Jennifer M; Beier, Christoph P; Bermejo-Sanchez, Eva; Bhat, Musadiq A; Blyth, Moira; Bocquete, Jean-Philippe; Bourgeat, Samuel et al.
DOI: 10.1172/JCI165019

Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.

PMID: 36987741
Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Year: 2023
Reference: Am J Med Genet A. 2023 Jul;191(7):1722-1740. doi: 10.1002/ajmg.a.63194. Epub 2023 Mar 29.
Impact factor:
Publication type: Paper in international publication
Authors: Alonso-Luengo, Olga; Anderlid, Britt-Marie; Angelovska, Elena Sukarova; Atton, Giles; Baralle, Diana; Bergman, Anke K; Boiroux, Pauline; Chaudhry, Ayeshah; Curie, Aurore; Debant, Anne et al.
DOI: 10.1002/ajmg.a.63194

Decoding the molecular heterogeneity of pediatric monomorphic post-solid organ transplant lymphoproliferative disorders.

PMID: 37053555
Journal: BLOOD
Year: 2023
Reference: Blood. 2023 Apr 13:blood.2022019543. doi: 10.1182/blood.2022019543.
Impact factor:
Publication type: Paper in international publication
Authors: Andres, Mara; Astigarraga, Itziar; Balague, Olga; Campo, Elias; Castrejon-de-Anta, Natalia; Celis, Veronica; Colomer, Dolors; Diaz Crespo, Francisco Javier; Fernandez, Alba; Frigola, Gerard et al.
DOI: 10.1182/blood.2022019543

Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial.

PMID: 34942136
Journal: LANCET NEUROLOGY
Year: 2022
Reference: Lancet Neurol. 2022 Jan;21(1):42-52. doi: 10.1016/S1474-4422(21)00367-7.
Impact factor: 44.182
Publication type: Paper in international publication
Authors: Goemans, Nathalie; Mercuri, Eugenio; Deconinck, Nicolas; Mazzone, Elena S; Nascimento, Andres; Oskoui, Maryam; Saito, Kayoko; Vuillerot, Carole; Baranello, Giovanni; Boespflug-Tanguy, Odile et al.
DOI: 10.1016/S1474-4422(21)00367-7

Placental Tissue Destruction and Insufficiency from COVID-19 Causes Stillbirth and Neonatal Death from Hypoxic-Ischemic Injury: A Study of 68 Cases with SARS-CoV-2 Placentitis from 12 Countries.

PMID: 35142798
Journal: ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
Year: 2022
Reference: Arch Pathol Lab Med. 2022 Jun 1;146(6):660-676. doi: 10.5858/arpa.2022-0029-SA.
Impact factor: 5.534
Publication type: Paper in international publication
Authors: Schwartz, David A; Avvad-Portari, Elyzabeth; Babal, Pavel; Baldewijns, Marcella; Blomberg, Marie; Bouachba, Amine; Saad, Ali G; Sand, Anna; Schoenmakers, Sam; Sehn, Jennifer K et al.
DOI: 10.5858/arpa.2022-0029-SA

Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2.

PMID: 34894068
Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Year: 2022
Reference: Am J Med Genet A. 2022 Mar;188(3):991-995. doi: 10.1002/ajmg.a.62596. Epub 2021 Dec 11.
Impact factor: 2.802
Publication type: Paper in international publication
Authors: Valenzuela, Irene; Guillen Benitez, Elena; Sanchez-Montanez, Angel; Limeres, Javier; Lopez-Grondona, Fermina; Cusco, Ivon; Tizzano, Eduardo F et al.
DOI: 10.1002/ajmg.a.62596

MacroH2As regulate enhancer-promoter contacts affecting enhancer activity and sensitivity to inflammatory cytokines.

PMID: 35732123
Journal: Cell Reports
Year: 2022
Reference: Cell Rep. 2022 Jun 21;39(12):110988. doi: 10.1016/j.celrep.2022.110988.
Impact factor: 9.423
Publication type: Paper in international publication
Authors: Raurell, Helena; Perez-Gonzalez, Beatriz; Royo, Laura; Del Rio-Alvarez, Alvaro; Perez, Ainhoa; Valero, Vanesa; Le Pannerer, Marguerite-Marie; Garcia-Jaraquemada, Arce; Meers, Oliver; Carrillo-Reixach, Juan et al.
DOI: 10.1016/j.celrep.2022.110988

Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

PMID: 34493777
Journal: Scientific Reports
Year: 2021
Reference: Sci Rep. 2021 Sep 7;11(1):18146. doi: 10.1038/s41598-021-97262-y.
Impact factor: 4.38
Publication type: Letter or abstract
Authors: Vidal, Silvia, Brandi, Nuria, Pacheco, Paola, Gerotina, Edgar, Trotta, Jean-Remi, Derdak, Sophia, Del Mar O'Callaghan, Maria, Garcia-Cazorla, Angels, Pineda, Merce, Armstrong, Judith et al.
DOI: 10.1038/s41598-021-97262-y

Current Status of Genetic Counselling for Rare Diseases in Spain.

PMID: 34943558
Journal: Diagnostics
Year: 2021
Reference: Diagnostics (Basel). 2021 Dec 9;11(12). pii: diagnostics11122320. doi: 10.3390/diagnostics11122320.
Impact factor: 3.706
Publication type: Review in international publication
Authors: Abuli, Anna, Alvaro-Sanchez, Sara, Abreu-Rodriguez, Irene, Garrido-Navas, Maria Del Carmen, Serra-Juhe, Clara et al.
DOI: 10.3390/diagnostics11122320

The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.

PMID: 34445733
Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Year: 2021
Reference: Int J Mol Sci. 2021 Aug 21;22(16). pii: ijms22169029. doi: 10.3390/ijms22169029.
Impact factor: 5.924
Publication type: Review in international publication
Authors: Costa-Roger, Mar, Blasco-Perez, Laura, Cusco, Ivon, Tizzano, Eduardo F et al.
DOI: 10.3390/ijms22169029

Validation of nasospheroids to assay CFTR functionality and modulator responses in cystic fibrosis.

PMID: 34330959
Journal: Scientific Reports
Year: 2021
Reference: Sci Rep. 2021 Jul 30;11(1):15511. doi: 10.1038/s41598-021-94798-x.
Impact factor: 4.38
Publication type: Paper in international publication
Authors: Calucho, Maite, Gartner, Silvia, Barranco, Paula, Fernandez-Alvarez, Paula, Perez, Raquel Garcia, Tizzano, Eduardo F et al.
DOI: 10.1038/s41598-021-94798-x

In vivo blockade of ovarian sympathetic activity by Neosaxitoxin prevents polycystic ovary in rats.

PMID: 31958316
Journal: JOURNAL OF ENDOCRINOLOGY
Year: 2020
Reference: J Endocrinol. 2020 Mar;244(3):523-533. doi: 10.1530/JOE-19-0545.
Impact factor:
Publication type: Paper in international publication
Authors: Del Campo, Miguel; Lagos, Nestor; Lara, Hernan et al.
DOI: 10.1530/JOE-19-0545

Acute Megakaryoblastic Leukemia Leading to the Diagnosis of Germline Trisomy 21 Mosaicism.

PMID: 32068651
Journal: JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
Year: 2020
Reference: J Pediatr Hematol Oncol. 2020 May;42(4):299-301. doi: 10.1097/MPH.0000000000001753.
Impact factor:
Publication type: Paper in international publication
Authors: Del Campo, Miguel; Kuo, Dennis John; Masser-Frye, Diane; Savla, Dipal et al.
DOI: 10.1097/MPH.0000000000001753

Fetal Alcohol Spectrum Disorders: Health Needs Assessment in Brazil.

PMID: 31984499
Journal: ALCOHOLISM-CLINICAL AND EXPERIMENTAL RESEARCH
Year: 2020
Reference: Alcohol Clin Exp Res. 2020 Mar;44(3):660-668. doi: 10.1111/acer.14294. Epub 2020 Feb 25.
Impact factor:
Publication type: Paper in international publication
Authors: Abeche, Alberto Mantovani; da Silva, Andre Anjos; de Souza, Paulo Ricardo Assis; Del Campo, Miguel; Fraga, Lucas Rosa; Larrandaburu, Mariela; Rocha, Anastacia Guimaraes; Sanseverino, Maria Teresa V; Schuler-Faccini, Lavinia; Terra, Anna Pires et al.
DOI: 10.1111/acer.14294

Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient.

PMID: 33420009
Journal: Human genome variation
Year: 2020
Reference: Hum Genome Var. 2020 Jun 8;7(1):20. doi: 10.1038/s41439-020-0105-3.
Impact factor: 0
Publication type: Paper in international publication
Authors: Cueto-Gonzalez, Anna M, Fernandez-Cancio, Monica, Fernandez-Alvarez, Paula, Garcia-Arumi, Elena, Tizzano, Eduardo F et al.
DOI: 10.1038/s41439-020-0105-3

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.

PMID: 30792901
Journal: npj Genomic Medicine
Year: 2019
Reference: NPJ Genom Med. 2019 Feb 14;4:5. doi: 10.1038/s41525-018-0076-1. eCollection 2019.
Impact factor:
Publication type: Paper in international publication
Authors: Ajay, Subramanian S; Belmont, John W; Bentley, David R; Del Campo, Miguel; Galarreta, Carolina I; Gross, Andrew; Jones, Marilyn C; Masser-Frye, Diane; McEachern, Julia; Perry, Denise L et al.
DOI: 10.1038/s41525-018-0076-1

Immunotherapeutic Potential of Mollusk Hemocyanins in Combination with Human Vaccine Adjuvants in Murine Models of Oral Cancer.

PMID: 30847353
Journal: Journal of Immunology Research
Year: 2019
Reference: J Immunol Res. 2019 Jan 20;2019:7076942. doi: 10.1155/2019/7076942. eCollection 2019.
Impact factor:
Publication type: Paper in international publication
Authors: Becker, Maria Ines; Curzio, Gianfranca; Del Campo, Miguel; Ferreira, Jorge; Jara, Lilian; Lladser, Alvaro; Manubens, Augusto; Mora Roman, Juan Jose; Murgas, Paola; Paolini, Francesca et al.
DOI: 10.1155/2019/7076942

Evaluation of Neosaxitoxin as a local anesthetic during piglet castration: A potential alternative for Lidocaine.

PMID: 30951754
Journal: TOXICON
Year: 2019
Reference: Toxicon. 2019 Jun;164:26-30. doi: 10.1016/j.toxicon.2019.03.021. Epub 2019 Apr 3.
Impact factor:
Publication type: Paper in international publication
Authors: Bustamante, Tamara; Del Campo, Miguel; Lagos, Nestor; Munoz, Vanina; Piron, Robin; Sanchez, Andrella; Sepulveda, Joaquin M; Simbaina, Juan Carlos; Torres, Cristian; Valenzuela, Carolina et al.
DOI: 10.1016/j.toxicon.2019.03.021

Effect of Superior Ovarian Nerve and Plexus Nerve Sympathetic Denervation on Ovarian-Derived Infertility Provoked by Estradiol Exposure to Rats.

PMID: 31024331
Journal: Frontiers in Physiology
Year: 2019
Reference: Front Physiol. 2019 Apr 9;10:349. doi: 10.3389/fphys.2019.00349. eCollection 2019.
Impact factor:
Publication type: Paper in international publication
Authors: Del Campo, Miguel; Lara, Hernan E; Piquer, Beatriz; Sridhar, Arun; Witherington, Jason et al.
DOI: 10.3389/fphys.2019.00349

Neosaxitoxin, a Paralytic Shellfish Poison toxin, effectively manages bucked shins pain, as a local long-acting pain blocker in an equine model.

PMID: 29146176
Journal: TOXICON
Year: 2018
Reference: Toxicon. 2018 Jan;141:15-17. doi: 10.1016/j.toxicon.2017.11.004. Epub 2017 Nov 13.
Impact factor:
Publication type: Paper in international publication
Authors: Al Ghumgham, Zaki; Del Campo, Miguel; Lagos, Nestor; Montero, Cecilia; Riquelme, Gricel; Sepulveda, Joaquin M et al.
DOI: 10.1016/j.toxicon.2017.11.004

Disruptive Behavior, Global Developmental Delay, and Obesity in a 5-Year-Old Boy with a Chromosome Microduplication.

PMID: 29293472
Journal: JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
Year: 2018
Reference: J Dev Behav Pediatr. 2018 Jan;39(1):81-84. doi: 10.1097/DBP.0000000000000528.
Impact factor:
Publication type: Paper in international publication
Authors: Braddock, Adam; Del Campo, Miguel; Reiff, Michael I; Stein, Martin T et al.
DOI: 10.1097/DBP.0000000000000528

Antitumor activity and carrier properties of novel hemocyanins coupled to a mimotope of GD2 ganglioside.

PMID: 29524730
Journal: EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY
Year: 2018
Reference: Eur J Med Chem. 2018 Apr 25;150:74-86. doi: 10.1016/j.ejmech.2018.02.082. Epub 2018 Feb 27.
Impact factor:
Publication type: Paper in international publication
Authors: Becker, Maria Ines; Del Campo, Miguel; Lopez, Mercedes N; Palacios, Miriam; Salazar-Onfray, Flavio; Tampe, Ricardo; Zhong, Ta-Ying et al.
DOI: 10.1016/j.ejmech.2018.02.082

Clinical study of a patient with congenital myotonic dystrophy reveals chylothorax as neonatal presentation of the disease

PMID: NOPMID0074
Journal: CASE REPORTS IN PERINATAL MEDICINE
Year: 2018
Reference: Case Reports in Perinatal Medicine. 2018 Mar 28;7(1). doi: 10.1515/crpm-2017-0025
Impact factor: 0
Publication type: Paper in international publication
Authors: Valenzuela, Irene, Lines, Marcos, Martinez-Saez, Elena, Cueto-Gonzalez, Ana, Castillo, Felix, Tizzano, Eduardo et al.
DOI: 10.1515/crpm-2017-0025

A review of the physical features of the fetal alcohol spectrum disorders.

PMID: 27729236
Journal: European Journal of Medical Genetics
Year: 2017
Reference: Eur J Med Genet. 2017 Jan;60(1):55-64. doi: 10.1016/j.ejmg.2016.10.004. Epub 2016 Oct 10.
Impact factor:
Publication type: Paper in international publication
Authors: Del Campo, Miguel; Jones, Kenneth Lyons et al.
DOI: 10.1016/j.ejmg.2016.10.004

Sublethal doses of dinophysistoxin-1 and okadaic acid stimulate secretion of inflammatory factors on innate immune cells: Negative health consequences.

PMID: 27956244
Journal: TOXICON
Year: 2017
Reference: Toxicon. 2017 Feb;126:23-31. doi: 10.1016/j.toxicon.2016.12.005. Epub 2016 Dec 9.
Impact factor:
Publication type: Paper in international publication
Authors: Del Campo, Miguel; Garcia, Lorena; Lagos, Nestor; Tampe, Ricardo; Zhong, Ta-Ying et al.
DOI: 10.1016/j.toxicon.2016.12.005

The phenotypic spectrum of congenital Zika syndrome.

PMID: 28328129
Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Year: 2017
Reference: Am J Med Genet A. 2017 Apr;173(4):841-857. doi: 10.1002/ajmg.a.38170.
Impact factor:
Publication type: Paper in international publication
Authors: Cavalcanti, Denise P; Cernach, Mirlene C S P; Cordeiro, Marli T; Del Campo, Miguel; Dhalia, Rafael; Doriqui, Maria J R; Feitosa, Ian M L; Franca, Giovanny V A; Garcia-Alix, Alfredo; Horovitz, Dafne D G et al.
DOI: 10.1002/ajmg.a.38170

The oxygen-binding properties of hemocyanin from the mollusk Concholepas concholepas.

PMID: 28844742
Journal: BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS
Year: 2017
Reference: Biochim Biophys Acta Proteins Proteom. 2017 Dec;1865(12):1746-1757. doi: 10.1016/j.bbapap.2017.08.017. Epub 2017 Aug 24.
Impact factor:
Publication type: Paper in international publication
Authors: Becker, Maria Ines; De Ioannes, Alfredo; Del Campo, Miguel; Ferreira, Jorge; Gonzalez, Andrea; Manubens, Augusto; Nova, Esteban et al.
DOI: 10.1016/j.bbapap.2017.08.017

Hemocyanins Stimulate Innate Immunity by Inducing Different Temporal Patterns of Proinflammatory Cytokine Expression in Macrophages.

PMID: 27183578
Journal: JOURNAL OF IMMUNOLOGY
Year: 2016
Reference: J Immunol. 2016 Jun 1;196(11):4650-62. doi: 10.4049/jimmunol.1501156. Epub 2016 Apr 22.
Impact factor:
Publication type: Paper in international publication
Authors: Arancibia, Sergio; Becker, Maria Ines; Born, Raimundo; Del Campo, Miguel; Manubens, Augusto; Tampe, Ricardo; Villar, Javiera; Zhong, Ta-Ying et al.
DOI: 10.4049/jimmunol.1501156

Genetic Variants Associated with Colorectal Adenoma Susceptibility.

PMID: 27078840
Journal: PLoS One
Year: 2016
Reference: PLoS One. 2016 Apr 14;11(4):e0153084. doi: 10.1371/journal.pone.0153084. eCollection 2016.
Impact factor:
Publication type: Paper in international publication
Authors: Abuli, Anna; Alvarez-Urturi, Cristina; Andreu, Montserrat; Bessa, Xavier; Bujanda, Luis; Buron, Andrea; Castells, Antoni; Castellvi-Bel, Sergi; Esteban-Jurado, Clara; Grau, Jaume et al.
DOI: 10.1371/journal.pone.0153084

Determination of the toxic variability of lipophilic biotoxins in marine bivalve and gastropod tissues treated with an industrial canning process.

PMID: 27646025
Journal:
Year: 2016
Reference: Food Addit Contam Part A Chem Anal Control Expo Risk Assess. 2016 Nov;33(11):1711-1727. doi: 10.1080/19440049.2016.1239032. Epub 2016 Oct 11.
Impact factor:
Publication type: Paper in international publication
Authors: Contreras, Cristobal; Contreras, Hector R; Del Campo, Miguel; Garcia, Carlos; Oyaneder-Terrazas, Javiera; Torres, Rafael et al.
DOI: 10.1080/19440049.2016.1239032

Simultaneous bilateral atypical femoral fracture in a patient receiving denosumab: case report and literature review.

PMID: 26501556
Journal: OSTEOPOROSIS INTERNATIONAL
Year: 2016
Reference: Osteoporos Int. 2016 Feb;27(2):827-32. doi: 10.1007/s00198-015-3355-z.
Impact factor: 4.169
Publication type: Paper in international publication
Authors: Selga, J, Nunez, J H, Minguell, J, Lalanza, M, Garrido, M et al.
DOI: 10.1007/s00198-015-3355-z

Metabolic abnormalities in Williams-Beuren syndrome.

PMID: 25663682
Journal: JOURNAL OF MEDICAL GENETICS
Year: 2015
Reference: J Med Genet. 2015 Apr;52(4):248-55. doi: 10.1136/jmedgenet-2014-102713. Epub 2015 Feb 6.
Impact factor: 6.335
Publication type: Paper in international publication
Authors: Segura-Puimedon, Maria, Borralleras, Cristina, Flores, Raquel, Del Campo, Miguel, Campuzano, Victoria, Perez-Jurado, Luis Alberto, Palacios-Verdu, Maria Gabriela et al.
DOI: 10.1136/jmedgenet-2014-102713

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

PMID: 25969726
Journal: Molecular Autism
Year: 2015
Reference: Mol Autism. 2015 Apr 15;6:21. doi: 10.1186/s13229-015-0017-0. eCollection 2015.
Impact factor: 5.413
Publication type: Paper in international publication
Authors: Gabau, Elisabeth, Botella, Maria Pilar, Gutierrez-Arumi, Armand, Antinolo, Guillermo, Perez-Jurado, Luis Alberto, Cusco, Ivon, Gener, Blanca, Del Campo, Miguel, Aznar-Lain, Gemma, Rigau, Maria et al.
DOI: 10.1186/s13229-015-0017-0

Recomendaciones para el uso clínico del microarray genómico en diagnóstico prenatal

PMID: 0003nopmid
Journal: Prog Obstet Ginecol
Year: 2015
Reference: Progresos de Obstetricia y Ginecología, 2015-12-01, Volumen 58, Número 10, Páginas 470-473
Impact factor: 0
Publication type: Paper in national publication
Authors: Plaja Rustein, Alberto, Campo Casanelles, Miguel del, Casals, Elena, Figueras, Francesc, Chica, Rosana de la, Armengol, Lluis, Cirigliano , Vincenzo, Borrell, Antoni et al.
DOI: 10.1016/j.pog.2015.05.003

Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.

PMID: 25898808
Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Year: 2015
Reference: Am J Med Genet A. 2015 Aug;167A(8):1796-806. doi: 10.1002/ajmg.a.37115. Epub 2015 Apr 21.
Impact factor: 2.159
Publication type: Paper in international publication
Authors: Garg, Abhimanyu, Kircher, Martin, Del Campo, Miguel, Amato, R Stephen, Agarwal, Anil K et al.
DOI: 10.1002/ajmg.a.37115

Whole-body MRI for initial staging of paediatric lymphoma: prospective comparison to an FDG-PET/CT-based reference standard.

PMID: 24563179
Journal: EUR RADIOL
Year: 2014
Reference: Eur Radiol. 2014 May;24(5):1153-65. doi: 10.1007/s00330-014-3114-0. Epub 2014 Feb 23.
Impact factor: 4.338
Publication type: Paper in international publication
Authors: Nievelstein, Rutger A J, Stoker, Jaap, Bierings, Marc B, Hobbelink, Monique G, Beek, Frederik J A, Littooij, Annemieke S, Kwee, Thomas C, Barber, Ignasi, Granata, Claudio, Vermoolen, Malou A et al.
DOI: 10.1007/s00330-014-3114-0

Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.

PMID: 24162162
Journal: PEDIATR NEPHROL
Year: 2014
Reference: Pediatr Nephrol. 2014 Feb;29(2):223-34. doi: 10.1007/s00467-013-2657-7. Epub 2013 Oct 27.
Impact factor: 2.881
Publication type: Paper in international publication
Authors: Krall, Paola, Pineda, Cristina, Ruiz, Patricia, Ejarque, Laia, Vendrell, Teresa, Camacho, Juan Antonio, Mendizabal, Santiago, Oliver, Artur, Ballarin, Jose, Torra, Roser et al.
DOI: 10.1007/s00467-013-2657-7

Nonsyndromic familial aortic disease: an underdiagnosed entity.

PMID: 25200617
Journal: REVISTA ESPANOLA DE CARDIOLOGIA
Year: 2014
Reference: Rev Esp Cardiol (Engl Ed). 2014 Oct;67(10):861-3. doi: 10.1016/j.rec.2014.06.003. Epub 2014 Sep 8.
Impact factor: 3.342
Publication type: Letter or abstract
Authors: Teixido-Tura, Gisela, Valenzuela, Irene, Gutierrez, Laura, Borregan, Mar, del Campo, Miguel, Evangelista, Artur et al.
DOI: 10.1016/j.rec.2014.06.003

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

PMID: 24403048
Journal: HUM MOL GENET
Year: 2014
Reference: Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8.
Impact factor: 6.677
Publication type: Paper in international publication
Authors: Clark, Dinah, Del Campo, Miguel, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A, Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C, Francey, Lauren J et al.
DOI: 10.1093/hmg/ddu002

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.

PMID: 23522784
Journal: AMERICAN JOURNAL OF HUMAN GENETICS
Year: 2013
Reference: Am J Hum Genet. 2013 Apr 4;92(4):598-604. doi: 10.1016/j.ajhg.2013.02.012. Epub 2013 Mar 21.
Impact factor: 11.202
Publication type: Paper in international publication
Authors: Ashour, Adel, Shaheen, Ranad, Aglan, Mona, Keppler-Noreuil, Kim, Faqeih, Eissa, Ansari, Shinu, Horton, Kim, Cueto-Gonzalez, Anna M, Abdel-Salam, Ghada, Temtamy, Samia et al.
DOI: 10.1016/j.ajhg.2013.02.012

Congenital lung malformations: radiological findings and clues for differential diagnosis.

PMID: 23436824
Journal: ACTA RADIOLOGICA
Year: 2013
Reference: Acta Radiol. 2013 Nov;54(9):1086-95. doi: 10.1177/028418511305400901. Epub 2013 Apr 30.
Impact factor: 1.33
Publication type: Review in international publication
Authors: Garcia-Pena, Pilar, Coma, Ana, Enriquez, Goya et al.
DOI: 10.1177/028418511305400901

Reversal of hyperoxaluric cardiomyopathy with severe cardiac dysfunction after combined liver and kidney transplantation.

PMID: 24775460
Journal: REVISTA ESPANOLA DE CARDIOLOGIA
Year: 2013
Reference: Rev Esp Cardiol. 2013 Mar;66(3):224-5. doi: 10.1016/j.rec.2012.06.018. Epub 2012 Sep 25.
Impact factor: 3.204
Publication type: Letter whit IF
Authors: Giralt, Gemma, Madrid, Alvaro, Garrido, Marta, Albert, Dimpna C, Betrian, Pedro, Girona, Josep et al.
DOI: 10.1016/j.rec.2012.06.018

Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration.

PMID: 23894094
Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Year: 2013
Reference: Am J Med Genet A. 2013 Sep;161(9):2363-8. doi: 10.1002/ajmg.a.36102. Epub 2013 Jul 25.
Impact factor: 2.304
Publication type: Paper in international publication
Authors: Campo, Miguel Del, Fernandez, Asuncion, Herrero, Marta, Barranco, Laura, Palau, Nuria, Lopez-Ariztegui, M Asuncion, Catala, Vicenc, Tejada, Maria-Isabel, Barrena, Beatriz, Martinez-Bouzas, Cristina et al.
DOI: 10.1002/ajmg.a.36102

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.

PMID: 23122587
Journal: AMERICAN JOURNAL OF HUMAN GENETICS
Year: 2012
Reference: Am J Hum Genet. 2012 Nov 2;91(5):883-9. doi: 10.1016/j.ajhg.2012.09.012.
Impact factor: 10.603
Publication type: Paper in international publication
Authors: Schraders, Margit, Ruiz-Palmero, Laura, Kalay, Ersan, Oostrik, Jaap, del Castillo, Francisco J, Sezgin, Orhan, Beynon, Andy J, Strom, Tim M, Pennings, Ronald J E, Seco, Celia Zazo et al.
DOI: 10.1016/j.ajhg.2012.09.012

Contribution of rare copy number variants to isolated human malformations.

PMID: 23056206
Journal: PLoS One
Year: 2012
Reference: PLoS One. 2012;7(10):e45530. doi: 10.1371/journal.pone.0045530. Epub 2012 Oct 3.
Impact factor: 4.092
Publication type: Paper in international publication
Authors: Serra-Juhe, Clara, Rodriguez-Santiago, Benjamin, Cusco, Ivon, Vendrell, Teresa, Camats, Nuria, Toran, Nuria, Perez-Jurado, Luis A et al.
DOI: 10.1371/journal.pone.0045530

Association of ventricular noncompaction and histiocytoid cardiomyopathy: case report and review of the literature.

PMID: 22758650
Journal: PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
Year: 2012
Reference: Pediatr Dev Pathol. 2012 Sep-Oct;15(5):397-402. doi: 10.2350/12-05-1193-CR.1. Epub 2012 Jul 3.
Impact factor: 0.986
Publication type: Review in international publication
Authors: , , , , , et al.
DOI: 10.2350/12-05-1193-CR.1

High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita.

PMID: 22664374
Journal: BLOOD CELLS MOLECULES AND DISEASES
Year: 2012
Reference: Blood Cells Mol Dis. 2012 Oct 15-Dec 15;49(3-4):140-6. doi: 10.1016/j.bcmd.2012.05.008. Epub 2012 Jun 2.
Impact factor: 2.351
Publication type: Paper in international publication
Authors: , , , , , , , , , et al.
DOI: 10.1016/j.bcmd.2012.05.008

White hemithorax in children.

PMID: 21553041
Journal: PEDIATRIC RADIOLOGY
Year: 2011
Reference: Pediatr Radiol. 2011 Jul;41(7):916-24. doi: 10.1007/s00247-011-2065-8. Epub 2011 May 7.
Impact factor: 1.499
Publication type: Review in international publication
Authors: Lucaya, Javier, Garces-Inigo, Enrique F, Garcia-Pena, Pilar, Piqueras, Joaquim, Enriquez, Goya et al.
DOI: 10.1007/s00247-011-2065-8

[Mid-aortic syndrome: case studies from a paediatric nephrology department].

PMID: 21398195
Journal: ANALES DE PEDIATRIA
Year: 2011
Reference: An Pediatr (Barc). 2011 Jul;75(1):33-9. doi: 10.1016/j.anpedi.2011.01.026. Epub 2011 Mar 12.
Impact factor: 0.57
Publication type: Letter or abstract
Authors: Chocron de Benzaquen, S, Munoz Lopez, M, Madrid Aris, A D, Castellote Alonso, A, Enriquez, G, Nieto Rey, J L et al.
DOI: 10.1016/j.anpedi.2011.01.026

Side effects of oncologic therapies in the pediatric central nervous system: update on neuroimaging findings.

PMID: 21768243
Journal: RADIOGRAPHICS
Year: 2011
Reference: Radiographics. 2011 Jul-Aug;31(4):1123-39. doi: 10.1148/rg.314105180.
Impact factor: 2.76
Publication type: Review in international publication
Authors: Vazquez, Elida, Delgado, Ignacio, Sanchez-Montanez, Angel, Barber, Ignasi, Sanchez-Toledo, Jose, Enriquez, Goya et al.
DOI: 10.1148/rg.314105180

Correlation between US and MRI for prenatal lung volumetry in diaphragmatic hernia, and use of Doppler to identify the ipsilateral lung cap.

PMID: 21938506
Journal: PEDIATRIC RADIOLOGY
Year: 2011
Reference: Pediatr Radiol. 2011 Dec;41(12):1569-77. Epub 2011 Sep 22.
Impact factor: 1.499
Publication type: Paper in international publication
Authors: Castellote, Amparo, Mencho, Sandra, Carreras, Elena, Higueras, Teresa, Cadavid, Lina, Piqueras, Joaquim, Enriquez, Goya et al.
DOI: 10.1007/s00247-011-2200-6

A novel de novo BRCA2 mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer.

PMID: 19649703
Journal: BREAST CANCER RESEARCH AND TREATMENT
Year: 2010
Reference: Breast Cancer Res Treat. 2010 May;121(1):221-5. Epub 2009 Aug 1.
Impact factor: 4.696
Publication type: Paper in international publication
Authors: Diez, Orland, Gutierrez-Enriquez, Sara, Mediano, Carmen, Masas, Miriam, Saura, Cristina, Gadea, Neus, Balmana, Judith et al.
DOI: 10.1007/s10549-009-0494-y

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

PMID: 20503313
Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Year: 2010
Reference: Am J Med Genet A. 2010 Jun;152A(6):1390-7.
Impact factor: 2.404
Publication type: Paper in international publication
Authors: Romanelli, Valeria, Belinchon, Alberta, Benito-Sanz, Sara, Martinez-Glez, Victor, Gracia-Bouthelier, Ricardo, Heath, Karen E, Campos-Barros, Angel, Garcia-Minaur, Sixto, Fernandez, Luis, Meneses, Heloisa et al.
DOI: 10.1002/ajmg.a.33453

Assessment of QF-PCR as the first approach in prenatal diagnosis.

PMID: 20889556
Journal: JOURNAL OF MOLECULAR DIAGNOSTICS
Year: 2010
Reference: J Mol Diagn. 2010 Nov;12(6):828-34. Epub 2010 Oct 1.
Impact factor: 3.413
Publication type: Paper in international publication
Authors: Badenas, Celia, Rodriguez-Revenga, Laia, Morales, Carme, Mediano, Carmen, Plaja, Alberto, Perez-Iribarne, Ma Mar, Soler, Anna, Clusellas, Nuria, Borrell, Antoni, Sanchez, Ma Angeles et al.
DOI: 10.2353/jmoldx.2010.090224

Fetal alcohol spectrum disorders: Extending the range of structural defects.

PMID: 20949507
Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Year: 2010
Reference: Am J Med Genet A. 2010 Nov;152A(11):2731-5.
Impact factor: 2.404
Publication type: Paper in international publication
Authors: , , , , , , et al.
DOI: 10.1002/ajmg.a.33675

Pitfalls in chest imaging.

PMID: 19440754
Journal: PEDIATRIC RADIOLOGY
Year: 2009
Reference: Pediatr Radiol. 2009 Jun;39 Suppl 3:356-68. doi: 10.1007/s00247-009-1228-3.
Impact factor: 1.186
Publication type: Review in international publication
Authors: Enriquez, Goya, Garcia-Pena, Pilar, Lucaya, Javier et al.
DOI: 10.1007/s00247-009-1228-3

Developmental pathogenesis of short palpebral fissure length in children with fetal alcohol syndrome.

PMID: 19350654
Journal: BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
Year: 2009
Reference: Birth Defects Res A Clin Mol Teratol. 2009 Aug;85(8):695-9.
Impact factor: 2.17
Publication type: Paper in international publication
Authors: Robinson, Luther K, Jones, Kenneth Lyons, Hoyme, H Eugene, Bakhireva, Ludmila N, Prewitt, Lela M, Chambers, Christina D, Manning, Melanie A, del Campo, Miguel et al.
DOI: 10.1002/bdra.20585

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

PMID: 19246517
Journal: HUMAN MOLECULAR GENETICS
Year: 2009
Reference: Hum Mol Genet. 2009 May 15;18(10):1795-804.
Impact factor: 7.249
Publication type: Paper in international publication
Authors: Medrano, Andres, Gener, Blanca, Vilardell, Mireia, Gallastegui, Fatima, Villa, Olaya, Gonzalez, Eva, Rodriguez-Santiago, Benjamin, Vilella, Elisabet, Del Campo, Miguel, Perez-Jurado, Luis A et al.
DOI: 10.1093/hmg/ddp092

Low-dose pioglitazone and low-dose flutamide added to metformin and oestro-progestagens for hyperinsulinaemic women with androgen excess: add-on benefits disclosed by a randomized double-placebo study over 24 months.

PMID: 19018783
Journal: CLINICAL ENDOCRINOLOGY
Year: 2009
Reference: Clin Endocrinol (Oxf). 2009 Sep;71(3):351-7.
Impact factor: 3.398
Publication type: Paper in international publication
Authors: Ibanez, Lourdes, Lopez-Bermejo, Abel, Diaz, Marta, Enriquez, Goya, del Rio, Luis, de Zegher, Francis et al.
DOI: 10.1111/j.1365-2265.2008.03472.x

Thesis

Dinámicas volumétricas tisulares de las crestas palatinas integradas en los procesos maxilares: estudio estereológico durante el periodo embrionario humano

PhD student: Anna Maria Cueto Gonzalez, Anna Maria Cueto Gonzalez
Director/s:
University: Universidad Autònoma de Barcelona
Year: 2016

Estudio histológico y nanoscópico con espectroscopia RAMAN del desarrollo pulmonar en la oclusión traqueal precoz como terapia fetal de la hipoplasia pulmonar en la hernia diafragmática congénita en el feto ovino

PhD student: Maite Calucho Prim
Director/s:
University: Universidad Autònoma de Barcelona
Year: 2014

Utilidad de la ultrasonografía-dupplex de la arteria temporal en el diagnóstico y seguimiento de la arteritis de células gigantes

PhD student: Jorge Pérez López
Director/s:
University: Universidad Autònoma de Barcelona
Year: 2007

Blog

News

The results show that, in some patients with mutations in the X chromosome, the healthy gene is inactivated and the mutated gene manifests itself, which favors the onset of the disease.

On January 24, a session was held to explain what these three-dimensional models are and what advantages they have, as well as to review some of their applications in research.

The research has studied the structure and function of proteins related to this degenerative disease and their interaction with SMN2 messenger RNA (mRNA), which is key to the evolution of patients.

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