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.

Projects

Aquest any no hi ha projectes actius.

Publications

Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.

PMID: 37568403
Journal: Journal of Clinical Medicine
Year: 2023
Reference: J Clin Med. 2023 Jul 29;12(15):5003. doi: 10.3390/jcm12155003.
Impact factor:
Publication type: Paper in international publication
Authors: Alonso, Milagros; Cambra, Ana; Carcavilla, Atilano; Cruz, Jaime; Ezquieta, Begona; Gonzalez-Casado, Isabel; Guillen-Navarro, Encarna; Lopez-Siguero, Juan Pedro; Medrano, Constancio; Pozo, Jesus et al.
DOI: 10.3390/jcm12155003

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.

PMID: 37580113
Journal: JOURNAL OF MEDICAL GENETICS
Year: 2023
Reference: J Med Genet. 2023 Aug 14:jmg-2022-109030. doi: 10.1136/jmg-2022-109030.
Impact factor:
Publication type: Paper in international publication
Authors: Agre, Katherine E; Ahmed, Syed Anas; Battisti, Gladys; Bergmann, Anke Katharina; Braun, Dominique; Brennenstuhl, Heiko; Brunner, Han G; Callewaert, Bert Louis; Caluseriu, Oana; Chitayat, David et al.
DOI: 10.1136/jmg-2022-109030

Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism.

PMID: 37597073
Journal: JOURNAL OF CLINICAL IMMUNOLOGY
Year: 2023
Reference: J Clin Immunol. 2023 Aug 19. doi: 10.1007/s10875-023-01556-x.
Impact factor:
Publication type: Paper in international publication
Authors: Aguilo-Cucurull, Aina; Batlle-Maso, Laura; Castells, Neus; Castells, Neus; Colobran, Roger; Franco-Jarava, Clara; Garcia-Prat, Marina; Martin-Nalda, Andrea; Martinez-Gallo, Monica; Parra-Martinez, Alba et al.
DOI: 10.1007/s10875-023-01556-x

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

PMID: 37658852
Journal: GENETICS IN MEDICINE
Year: 2023
Reference: Genet Med. 2023 Sep 1:100962. doi: 10.1016/j.gim.2023.100962.
Impact factor:
Publication type: Letter or abstract
Authors: Angle, Brad; Ashraf, Tazeen; Baker, Rachel; Barat-Houari, Mouna; Chatron, Nicolas; de Boer, Elke; Denomme-Pichon, Anne-Sophie; Devinsky, Orrin; Dingemans, Alexander J M; Dubourg, Christele et al.
DOI: 10.1016/j.gim.2023.100962

A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome.

PMID: 33910934
Journal: JOURNAL OF MEDICAL GENETICS
Year: 2022
Reference: J Med Genet. 2022 Jun;59(6):605-612. doi: 10.1136/jmedgenet-2020-107604. Epub 2021 Apr 28.
Impact factor:
Publication type: Paper in international publication
Authors: Antolin, Maria; Codina-Sola, Marta; Cueto-Gonzalez, Anna; Evangelista, Artur; Fernandez-Alvarez, Paula; Garcia-Arumi, Elena; Lopez-Grondona, Fermina; Paramonov, Ida; Teixido-Tura, Gisela; Tizzano, Eduardo F et al.
DOI: 10.1136/jmedgenet-2020-107604

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

PMID: 35579625
Journal: GENETICS IN MEDICINE
Year: 2022
Reference: Genet Med. 2022 Aug;24(8):1753-1760. doi: 10.1016/j.gim.2022.04.010. Epub 2022 May 18.
Impact factor:
Publication type: Paper in international publication
Authors: Ahlers, Kaitlyn P; Alby, Caroline; Arts, Peer; Ashfaq, Myla; Attie-Bitach, Tania; Baban, Anwar; Barnett, Christopher P; Borrie, Sarah; Busa, Tiffany; Byrne, Alicia et al.
DOI: 10.1016/j.gim.2022.04.010

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.

PMID: 35569879
Journal: JOURNAL OF MOLECULAR DIAGNOSTICS
Year: 2022
Reference: J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003.
Impact factor:
Publication type: Paper in international publication
Authors: Alias, Laura; Alvarez-Mora, Maria Isabel; Amador, Daniel Pico; Arjona, Cesar; Armstrong, Judith; Artuch, Rafael; Aznar, Gemma; Balcells, Susanna; Bayes, Monica; Beltran, Sergi et al.
DOI: 10.1016/j.jmoldx.2022.02.003

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.

PMID: 35567594
Journal: GENETICS IN MEDICINE
Year: 2022
Reference: Genet Med. 2022 Aug;24(8):1774-1780. doi: 10.1016/j.gim.2022.04.011. Epub 2022 May 14.
Impact factor:
Publication type: Paper in international publication
Authors: Amsterdam, Karin Huijsdens-van; Besnard, Thomas; Bezieau, Stephane; Bizaoui, Varoona; Boogaerts, Anneleen; Brasch-Andersen, Charlotte; Brunner, Han G; Cogne, Benjamin; Cuinat, Silvestre; Cusco, Ivon et al.
DOI: 10.1016/j.gim.2022.04.011

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.

PMID: 33437032
Journal: EUROPEAN JOURNAL OF HUMAN GENETICS
Year: 2021
Reference: Eur J Hum Genet. 2021 Apr;29(4):625-636. doi: 10.1038/s41431-020-00769-7. Epub 2021 Jan 12.
Impact factor:
Publication type: Paper in international publication
Authors: Albaba, Shadi; Armstrong, Ruth; Balasubramanian, Meena; Brooks, Alice S; Burke, Katherine B; Chung, Wendy K; Cox, Helen; De Sandre-Giovannoli, Annachiara; Debray, Francois-Guillaume; Demirdas, Serwet et al.
DOI: 10.1038/s41431-020-00769-7

Phenotypic variability of patients with PAX8 variants presenting congenital hypothyroidism and eutopic thyroid.

PMID: 33029631
Journal: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Year: 2021
Reference: J Clin Endocrinol Metab. 2021 Jan 1;106(1):e152-e170. doi: 10.1210/clinem/dgaa711.
Impact factor:
Publication type: Paper in international publication
Authors: Antolin, Maria; Baz-Redon, Noelia; Blasco-Perez, Laura; Camats, Nuria; Campos-Martorell, Ariadna; Clemente, Maria; Fernandez-Cancio, Monica; Garcia-Arumi, Elena; Jaimes, Nadya; Mogas, Eduard et al.
DOI: 10.1210/clinem/dgaa711

Leigh syndrome associated with TRMU gene mutations.

PMID: 33365252
Journal: Molecular Genetics and Metabolism Reports
Year: 2021
Reference: Mol Genet Metab Rep. 2020 Dec 15;26:100690. doi: 10.1016/j.ymgmr.2020.100690. eCollection 2021 Mar.
Impact factor:
Publication type: Paper in international publication
Authors: Arranz, Jose Antonio; Carnicer, Clara; Carreno, Lidia; de Las Heras, Javier; Del Toro, Mireia; Garcia-Arumi, Elena; Gort, Laura; Lasa-Aranzasti, Amaia; Miguel, Lucia Dougherty-de; Sala-Coromina, Julia et al.
DOI: 10.1016/j.ymgmr.2020.100690

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

RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design.

PMID: 32039859
Journal: Journal of neuromuscular diseases
Year: 2020
Reference: J Neuromuscul Dis. 2020;7(2):145-152. doi: 10.3233/JND-190451.
Impact factor:
Publication type: Paper in international publication
Authors: Anderson, Frederick A; Dabbous, Omar; Day, John W; De Vivo, Darryl C; Desguerre, Isabelle; Droege, Marcus; Finkel, Richard S; Khan, Farid; Kirschner, Janbernd; Mercuri, Eugenio et al.
DOI: 10.3233/JND-190451

Skeletal abnormalities are common features in Ayme-Gripp syndrome.

PMID: 31600839
Journal: CLINICAL GENETICS
Year: 2020
Reference: Clin Genet. 2020 Feb;97(2):362-369. doi: 10.1111/cge.13651. Epub 2019 Nov 3.
Impact factor:
Publication type: Paper in international publication
Authors: Barbuti, Domenico; Barresi, Sabina; Dallapiccola, Bruno; Del Fattore, Andrea; Fernandez Alvarez, Paula; Graul-Neumann, Luitgard; Grondona, Fermina Lopez; Gupta, Neerja; Leoni, Chiara; Niceta, Marcello et al.
DOI: 10.1111/cge.13651

IRF4-rearranged Large B-cell lymphoma (LBCL) has a genomic profile distinct to other LBCL in children and young adults.

PMID: 31738823
Journal: BLOOD
Year: 2020
Reference: Blood. 2020 Jan 23;135(4):274-286. doi: 10.1182/blood.2019002699.
Impact factor:
Publication type: Paper in international publication
Authors: Andion, Maitane; Andres, Mara; Astigarraga, Itziar; Azorin, Daniel; Balague, Olga; Barcena, Carmen; Campo, Elias; Celis, Veronica; Clot, Guillem; Dlouhy, Ivan et al.
DOI: 10.1182/blood.2019002699

A clinical scoring system for congenital contractural arachnodactyly.

PMID: 31316167
Journal: GENETICS IN MEDICINE
Year: 2020
Reference: Genet Med. 2020 Jan;22(1):124-131. doi: 10.1038/s41436-019-0609-8. Epub 2019 Jul 18.
Impact factor:
Publication type: Paper in international publication
Authors: Barnicoat, Angela; Bayat, Allan; Benedicenti, Francesco; Berland, Siren; Blair, Edward M; Breckpot, Jeroen; Callewaert, Bert; Coucke, Paul; de Burca, Anna; De Coninck, Shana et al.
DOI: 10.1038/s41436-019-0609-8

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

The Prevalence of Fetal Alcohol Spectrum Disorders in An American Indian Community.

PMID: 31226736
Journal: International Journal of Environmental Research and Public Health
Year: 2019
Reference: Int J Environ Res Public Health. 2019 Jun 20;16(12):2179. doi: 10.3390/ijerph16122179.
Impact factor:
Publication type: Paper in international publication
Authors: Admire, Ami; Akshoomoff, Natacha; Calac, Daniel; Chambers, Christina D; Del Campo, Miguel; Goodblanket, Amiyonette; Jensen, Toni; Jones, Kenneth Lyons; Montag, Annika C; Romero, Rhonda et al.
DOI: 10.3390/ijerph16122179

[Comparative genomic hybridisation as a first option in genetic diagnosis: 1,000 cases and a cost-benefit analysis].

PMID: 28958749
Journal: ANALES DE PEDIATRIA
Year: 2018
Reference: An Pediatr (Barc). 2018 Jul;89(1):3-11. doi: 10.1016/j.anpedi.2017.07.011. Epub 2017 Sep 27.
Impact factor: 1.14
Publication type: Paper in national publication
Authors: Castells-Sarret, Neus, Cueto-Gonzalez, Anna M, Borregan, Mar, Lopez-Grondona, Fermina, Miro, Rosa, Tizzano, Eduardo, Plaja, Alberto et al.
DOI: 10.1016/j.anpedi.2017.07.011

The umbilical cord, preeclampsia and the VEGF family.

PMID: 30568515
Journal: International journal of women's health
Year: 2018
Reference: Int J Womens Health. 2018 Nov 28;10:783-795. doi: 10.2147/IJWH.S174734. eCollection 2018.
Impact factor: 0
Publication type: Paper in international publication
Authors: Olaya-C, Mercedes, Garrido, Marta, Hernandez-Losa, Javier, Sese, Marta, Ayala-Ramirez, Paola, Somoza, Rosa, Vargas, Magda Jimena, Cajal, Santiago Ramon Y et al.
DOI: 10.2147/IJWH.S174734

Th1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestations.

PMID: 30063981
Journal: CLINICAL IMMUNOLOGY
Year: 2018
Reference: Clin Immunol. 2018 Oct;195:49-58. doi: 10.1016/j.clim.2018.07.015. Epub 2018 Jul 29.
Impact factor: 3.557
Publication type: Paper in international publication
Authors: Dieli-Crimi, Romina, Martinez-Gallo, Monica, Franco-Jarava, Clara, Antolin, Maria, Blasco, Laura, Paramonov, Ida, Semidey, Maria E, Fernandez, Antoni Alvarez, Velasquez, Julio, Martin-Nalda, Andrea et al.
DOI: 10.1016/j.clim.2018.07.015

CD5L is upregulated in hepatocellular carcinoma and promotes liver cancer cell proliferation and antiapoptotic responses by binding to HSPA5 (GRP78).

PMID: 29465313
Journal: FASEB JOURNAL
Year: 2018
Reference: FASEB J. 2018 Feb 20:fj201700941RR. doi: 10.1096/fj.201700941RR.
Impact factor: 5.595
Publication type: Paper in international publication
Authors: Barcena, Cristina, Aran, Gemma, Sanjurjo, Lucia, Vazquez-Vitali, Maria, Garrido, Marta, Guerra, Laura, Diaz, Esther, Ojanguren, Isabel, Elortza, Felix, Planas, Ramon et al.
DOI: 10.1096/fj.201700941RR

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

Provision of Genetic Services for Autism and its Impact on Spanish Families.

PMID: 28681252
Journal: JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
Year: 2017
Reference: J Autism Dev Disord. 2017 Oct;47(10):2947-2956. doi: 10.1007/s10803-017-3203-4.
Impact factor: 3.321
Publication type: Paper in international publication
Authors: Codina-Sola, Marta, Perez-Jurado, Luis A, Cusco, Ivon, Serra-Juhe, Clara et al.
DOI: 10.1007/s10803-017-3203-4

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.

PMID: 25853300
Journal: EUROPEAN JOURNAL OF HUMAN GENETICS
Year: 2015
Reference: Eur J Hum Genet. 2015 Dec;23(12):1615-26. doi: 10.1038/ejhg.2015.51. Epub 2015 Apr 8.
Impact factor: 4.349
Publication type: Paper in international publication
Authors: Nevado, Julian, Rosenfeld, Jill A, Mena, Rocio, Palomares-Bralo, Maria, Vallespin, Elena, Angeles Mori, Maria, Tenorio, Jair A, Gripp, Karen W, Denenberg, Elizabeth, Fernandez-Ramirez, Fernando et al.
DOI: 10.1038/ejhg.2015.51

DNA methylation abnormalities in congenital heart disease.

PMID: 25587870
Journal: Epigenetics
Year: 2015
Reference: Epigenetics. 2015;10(2):167-77. doi: 10.1080/15592294.2014.998536.
Impact factor: 4.78
Publication type: Paper in international publication
Authors: Serra-Juhe, Clara, Homs, Aida, Flores, Raquel, Toran, Nuria, Perez-Jurado, Luis A, Cusco, Ivon et al.
DOI: 10.1080/15592294.2014.998536

miR-29c in urinary exosomes as predictor of early renal fibrosis in lupus nephritis.

PMID: 26040904
Journal: NEPHROLOGY DIALYSIS TRANSPLANTATION
Year: 2015
Reference: Nephrol Dial Transplant. 2015 Sep;30(9):1488-96. doi: 10.1093/ndt/gfv128. Epub 2015 Jun 3.
Impact factor: 3.577
Publication type: Paper in international publication
Authors: Sole, Cristina, Cortes-Hernandez, Josefina, Felip, Maria L, Vidal, Marta, Ordi-Ros, Josep et al.
DOI: 10.1093/ndt/gfv128

[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].

PMID: 25194980
Journal: MEDICINA CLINICA
Year: 2015
Reference: Med Clin (Barc). 2015 Jan 20;144(2):67-72. doi: 10.1016/j.medcli.2014.06.009. Epub 2014 Sep 4.
Impact factor: 1.417
Publication type: Paper in national publication
Authors: Carcavilla, Atilano, Garcia-Minaur, Sixto, Pinto, Isabel, Guillen-Navarro, Encarna, Gonzalez-Meneses, Antonio, Aoki, Yoko, Grinberg, Daniel, Ezquieta, Begona, Vendrell, Teresa, Perez-Aytes, Antonio et al.
DOI: 10.1016/j.medcli.2014.06.009

Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.

PMID: 25046559
Journal: CLIN CHIM ACTA
Year: 2014
Reference: Clin Chim Acta. 2014 Nov 1;437:88-92. doi: 10.1016/j.cca.2014.07.016. Epub 2014 Jul 19.
Impact factor: 2.764
Publication type: Paper in international publication
Authors: Borregan, Mar, Sobrino, Beatriz, Amigo, Jorge, Garcia-Dorado, David, Evangelista, Artur, Carracedo, Angel, Brion, Maria, Del Campo, Miguel, Valenzuela, Irene, Blanco-Verea, Alejandro et al.
DOI: 10.1016/j.cca.2014.07.016

Similar Phenotypes Caused by Mutations in OTOG and OTOGL.

PMID: 24378291
Journal: EAR HEARING
Year: 2014
Reference: Ear Hear. 2014 May-Jun;35(3):e84-91. doi: 10.1097/AUD.0000000000000008.
Impact factor: 2.833
Publication type: Paper in international publication
Authors: Kremer, Hannie, Admiraal, Ronald J C, Pennings, Ronald J E, Snik, Ad F M, Kunst, Henricus P M, Feenstra, Ilse, Oonk, Anne M M, Leijendeckers, Joop M, Huygen, Patrick L M, Schraders, Margit et al.
DOI: 10.1097/AUD.0000000000000008

Mutation prevalence of cerebral cavernous malformation genes in spanish patients.

PMID: 24466005
Journal: PLOS ONE
Year: 2014
Reference: PLoS One. 2014 Jan 23;9(1):e86286. doi: 10.1371/journal.pone.0086286. eCollection 2014 Jan 23.
Impact factor: 3.534
Publication type: Paper in international publication
Authors: Mondejar, Rufino, Solano, Francisca, Rubio, Rocio, Delgado, Mercedes, Perez-Sempere, Angel, Gonzalez-Meneses, Antonio, Vendrell, Teresa, Izquierdo, Guillermo, Martinez-Mir, Amalia, Lucas, Miguel et al.
DOI: 10.1371/journal.pone.0086286

[Diaphragmatic defect, congenital heart disease, agonadism: a new case of PAGOD syndrome.]

PMID: 24582125
Journal: AN PEDIATR
Year: 2014
Reference: An Pediatr (Barc). 2014 Dec;81(6):e34-5. doi: 10.1016/j.anpedi.2013.11.009. Epub 2014 Feb 26.
Impact factor: 0.722
Publication type: Letter whit IF
Authors: Gil, L, Sanchez-de-Toledo, J, Ferreres, J C, Vendrell, T, Ruiz-Campillo, C W, Balcells, J et al.
DOI: 10.1016/j.anpedi.2013.11.009

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