Resultats globals: 13 registres trobats en 0.02 segons.
Articles, 10 registres trobats
Documents de recerca, 3 registres trobats
Articles 10 registres trobats  
1.
8 p, 4.1 MB Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs : Case report / Baz-Redón, Noelia (Hospital Universitari Vall d'Hebron) ; Soler-Colomer, Laura (Hospital Universitari Vall d'Hebron) ; Fernández Cancio, Mónica (Hospital Universitari Vall d'Hebron) ; Benito-Sanz, Sara (Hospital Universitario La Paz (Madrid)) ; Garrido-Marin, Marta (Hospital Universitari Vall d'Hebron) ; Moliné, Teresa (Hospital Universitari Vall d'Hebron) ; Clemente, Maria (Hospital Universitari Vall d'Hebron) ; Camats Tarruella, Núria (Hospital Universitari Vall d'Hebron) ; Yeste Fernández, Diego (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
The palmitoylation of the Hedgehog (Hh) family of morphogens, named sonic hedgehog (SHH), desert hedgehog (DHH), and Indian hedgehog (IHH), is crucial for effective short- and long-range signaling. The hedgehog acyltransferase (HHAT) attaches the palmitate molecule to the Hh; therefore, variants in HHAT cause a broad spectrum of phenotypes. [...]
2022 - 10.3389/fendo.2022.957969
Frontiers in Endocrinology, Vol. 13 (october 2022)  
2.
9 p, 459.3 KB Human NR5A1 /SF-1 Mutations Show Decreased Activity on BDNF (Brain-Derived Neurotrophic Factor), an Important Regulator of Energy Balance : Testing Impact of Novel SF-1 Mutations Beyond Steroidogenesis / Malikova, Jana (P University Children's Hospital Bern) ; Camats Tarruella, Núria (University Children's Hospital Bern (Suïssa)) ; Fernández Cancio, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Heath, Karen E (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; González, Isabel (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Caimarí, María (Hospital Universitari Son Espases (Palma de Mallorca, Balears)) ; del Campo Casanelles, Miguel (Hospital Universitari Vall d'Hebron) ; Albisu, Marian (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Kolouskova, Stanislava (University Hospital Motol, Prague) ; Audí, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Flück, Christa E. (University Children's Hospital Bern (Suïssa)) ; Universitat Autònoma de Barcelona
Human NR5A1 /SF-1 mutations cause 46,XY disorder of sex development (DSD) with broad phenotypic variability, and rarely cause adrenal insufficiency although SF-1 is an important transcription factor for many genes involved in steroidogenesis. [...]
2014 - 10.1371/journal.pone.0104838
PloS one, Vol. 9 (august 2014)  
3.
24 p, 5.6 MB Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency / Fernández Cancio, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Camats Tarruella, Núria (University of Bern) ; Flück, Christa E. (University of Bern) ; Zalewski, Adam (University of Bern) ; Dick, Bernhard (Department of Nephrology and Hypertension) ; Frey, Brigitte M. (University of Bern) ; Monné, Raquel (Hospital Universitari Joan XXIII de Tarragona) ; Torán, Núria (Hospital Universitari Vall d'Hebron) ; Audí, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Pandey, Amit V. (University of Bern) ; Universitat Autònoma de Barcelona
The CYP17A1 gene regulates sex steroid biosynthesis in humans through 17α-hydroxylase/17,20 lyase activities and is a target of anti-prostate cancer drug abiraterone. In a 46, XY patient with female external genitalia, together with a loss of function mutation S441P, we identified a novel missense mutation V366M at the catalytic center of CYP17A1 which preferentially impaired 17,20 lyase activity. [...]
2018 - 10.3390/ph11020037
Pharmaceuticals, Vol. 11 (april 2018)  
4.
14 p, 7.0 MB Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia / Baz-Redón, Noelia (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública) ; Rovira-Amigo, Sandra (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Fernández Cancio, Mónica (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Castillo-Corullón, Silvia (Hospital Clínic Universitari (València)) ; Cols, Maria (Hospital Sant Joan de Déu (Manresa)) ; Caballero-Rabasco, M. Araceli (Hospital del Mar (Barcelona, Catalunya)) ; Asensio, Oscar (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Martín de Vicente, Carlos (Hospital Universitario Miguel Servet (Saragossa)) ; Martínez-Colls, Maria del Mar (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Torrent-Vernetta, Alba (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; de Mir-Messa, Inés (Hospital Universitari Vall d'Hebron) ; Gartner, Silvia (Hospital Universitari Vall d'Hebron) ; Iglesias-Serrano, Ignacio (Hospital Universitari Vall d'Hebron) ; Díez-Izquierdo, Ana (Hospital Universitari Vall d'Hebron) ; Polverino, Eva (Hospital Universitari Vall d'Hebron) ; Amengual-Pieras, Esther (Hospital Universitari Son Llàtzer (Palma de Mallorca, Balears)) ; Amaro-Rodríguez, Rosanel (Hospital Clínic i Provincial de Barcelona) ; Vendrell, Montserrat (Centro de Investigación Biomédica en Red de Enfermedades Respiratorias) ; Mumany, Marta (Consorci Sanitari de Terrassa) ; Pascual-Sánchez, María Teresa (Hospital Universitari Sant Joan de Reus (Tarragona)) ; Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron) ; Reula, Ana (Universitat de València) ; Escribano, Amparo (Instituto de Investigación Sanitaria INCLIVA (València, Comunitat Valenciana)) ; Dasí, Francisco (Instituto de Investigación Sanitaria INCLIVA (València, Comunitat Valenciana)) ; Armengot-Carceller, Miguel (Hospital Universitari i Politècnic La Fe (València)) ; Garrido-Pontnou, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Camats Tarruella, Núria (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Moreno Galdó, Antonio (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Universitat Autònoma de Barcelona
Primary ciliary dyskinesia (PCD) is an autosomal recessive rare disease caused by an alteration of ciliary structure. Immunofluorescence, consisting in the detection of the presence and distribution of cilia proteins in human respiratory cells by fluorescence, has been recently proposed as a technique to improve understanding of disease-causing genes and diagnosis rate in PCD. [...]
2020 - 10.3390/jcm9113603
Journal of clinical medicine, Vol. 9 (november 2020)  
5.
5 p, 437.3 KB Unusual context of CENPJ variants and primary microcephaly : compound heterozygosity and nonconsanguinity in an Argentinian patient / Cueto-González, Anna Mª (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Fernández Cancio, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Fernández-Alvarez, Paula (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Garcia-Arumi, Elena (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Tizzano, Eduardo F. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
Primary microcephaly (MCPH) is a genetically heterogeneous disorder showing an autosomal recessive mode of inheritance. Patients with MCPH present head circumference values two or three standard deviations (SDs) significantly below the mean for age- and sex-matched populations. [...]
2020 - 10.1038/s41439-020-0105-3
Human Genome Variation, Vol. 7 (june 2020)  
6.
0 p, 658.9 KB Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing : Expected and Unexpected Findings / Rudilla, Francesc (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Franco-Jarava, Clara (Jeffrey Model Foundation Excellence Center) ; Martínez Gallo, Mónica (Jeffrey Model Foundation Excellence Center) ; Garcia-Prat, Marina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Rivière, Jacques (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Aguiló-Cucurull, Aina (Jeffrey Model Foundation Excellence Center) ; Mongay, Laura (Banc de Sang i Teixits) ; Vidal, Francisco (Instituto de Salud Carlos III) ; Solanich, Xavier (Hospital Universitari de Bellvitge) ; Irastorza, Iñaki (Hospital Universitario de Cruces (Barakaldo, País Basc)) ; Santos-Pérez, Juan Luis (Hospital Universitario Virgen de las Nieves (Granada)) ; Tercedor Sánchez, Jesús (Hospital Universitario Virgen de las Nieves (Granada)) ; Cusco, Ivon (Hospital Universitari Vall d'Hebron) ; Serra, Clara (Hospital Universitari Vall d'Hebron) ; Baz-Redón, Noelia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Fernández Cancio, Mónica (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Carreras, Carmen (Hospital Universitari i Politècnic La Fe (València)) ; Vagace, Manuel (Complejo Hospitalario Universitario de Badajoz) ; García-Patos Briones, Vicente (Hospital Universitari Vall d'Hebron) ; Pujol-Borrell, Ricardo (Jeffrey Model Foundation Excellence Center) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
Primary immunodeficiencies (PIDs) refer to a clinically, immunologically, and genetically heterogeneous group of over 350 disorders affecting development or function of the immune system. The increasing use of next-generation sequencing (NGS) technology has greatly facilitated identification of genetic defects in PID patients in daily clinical practice. [...]
2019 - 10.3389/fimmu.2019.02325
Frontiers in immunology, Vol. 10 (january 2019) , p. 2325  
7.
17 p, 1.4 MB Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease / Flück, Christa E. (Bern University Hospital) ; Audí, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Fernández Cancio, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Sauter, Kay-Sara (Bern University Hospital) ; Martinez de LaPiscina, Idoia (Hospital Universitario de Cruces (Barakaldo, País Basc)) ; Castaño, Luis (Hospital Universitario de Cruces (Barakaldo, País Basc)) ; Esteva, Isabel (Hospital Regional Universitario de Málaga) ; Camats Tarruella, Núria (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
Disorders/differences of sex development (DSD) are the result of a discordance between chromosomal, gonadal, and genital sex. DSD may be due to mutations in any of the genes involved in sex determination and development in general, as well as gonadal and/or genital development specifically. [...]
2019 - 10.3389/fgene.2019.00746
Frontiers in genetics, Vol. 10 (29 2019) , p. 746  
8.
16 p, 1.3 MB Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes / Tiosano, Dov (Technion - Israel Institute of Technology. Rappaport Family Faculty of Medicine) ; Audí, Laura (Hospital Universitari Vall d'Hebron) ; Climer, Sharlee (Department of Computer Science and Engineering, Washington University) ; Zhang, Weixiong (Department of Computer Science and Engineering) ; Templeton, Alan R. (Department of Evolutionary and Environmental Biology, University of Haifa) ; Fernández Cancio, Mónica (Hospital Universitari Vall d'Hebron) ; Gershoni-Baruch, Ruth (Department of Evolutionary and Environmental Biology, University of Haifa) ; Sánchez-Muro, José Miguel (Pediatric Service, Area Basica de Salut (ABS)) ; El Kholy, Mohamed (Department of Pediatrics, Ain Shams University) ; Hochberg, Zèev (Technion - Israel Institute of Technology. Rappaport Family Faculty of Medicine) ; Universitat Autònoma de Barcelona
The well-documented latitudinal clines of genes affecting human skin color presumably arise from the need for protection from intense ultraviolet radiation (UVR) vs. the need to use UVR for vitamin D synthesis. [...]
2016 - 10.1534/g3.115.026773
G3, Vol. 6 (february 2016) , p. 1251-1266  
9.
11 p, 1.7 MB Human growth hormone (GH1) gene polymorphism map in a normal-statured adult population / Esteban, Cristina (Hospital Universitari Vall d'Hebron) ; Audí, Laura (Hospital Universitari Vall d'Hebron) ; Carrascosa Lezcano, Antonio 1949- (Hospital Universitari Vall d'Hebron) ; Fernández Cancio, Mónica (Hospital Universitari Vall d'Hebron) ; Pérez-Arroyo, Annalisa (Hospital Universitari Vall d'Hebron) ; Ulied, Angels (Hospital Universitari Vall d'Hebron) ; Andaluz, Pilar (Hospital Universitari Vall d'Hebron) ; Arjona, Rosa (Hospital Universitari Vall d'Hebron) ; Albisu, Marian (Hospital Universitari Vall d'Hebron) ; Clemente, Maria (Hospital Universitari Vall d'Hebron) ; Gussinyer Canadell, Miquel (Hospital Universitari Vall d'Hebron) ; Yeste Fernández, Diego (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública)
GH1 gene presents a complex map of single nucleotide polymorphisms (SNPs) in the entire promoter, coding and noncoding regions. The aim of the study was to establish the complete map of GH1 gene SNPs in our control normal population and to analyse its association with adult height. [...]
2007 - 10.1111/j.1365-2265.2006.02718.x
Clinical Endocrinology, Vol. 66 (2 2007) , p. 258-268  
10.
20 p, 1.1 MB Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype / Camats Tarruella, Núria (University Children's Hospital Bern (Suïssa)) ; Fernández Cancio, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Audí, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Mullis, Primus E. (University Children's Hospital Bern (Suïssa)) ; Moreno, Francisca (Hospital Universitari i Politècnic La Fe (València)) ; González Casado, Isabel (Hospital Universitario La Paz (Madrid)) ; López-Siguero, Juan Pedro (Hospital Regional Universitario de Málaga) ; Corripio, Raquel (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Bermúdez de la Vega, José Antonio (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ; Blanco, José Antonio (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Flück, Christa E. (University Children's Hospital Bern (Suïssa)) ; Universitat Autònoma de Barcelona
MAMLD1 is thought to cause disordered sex development in 46,XY patients. But its role is controversial because some MAMLD1 variants are also detected in normal individuals, several MAMLD1 mutations have wild-type activity in functional tests, and the male Mamld1-knockout mouse has normal genitalia and reproduction. [...]
2015 - 10.1371/journal.pone.0142831
PloS one, Vol. 10 Núm. 11 (november 2015)  

Documents de recerca 3 registres trobats  
1.
262 p, 5.3 MB Evaluación del crecimiento desde etapa prepuberal hasta talla adulta de pacientes con retardo crónico e idiopático del crecimiento tratados con hormona de crecimiento : efectos de la discontinuación del tratamiento / Mogas Viñals, Eduard ; Yeste Fernández, Diego, dir. ; Fernández Cancio, Mónica, dir. ; Carrascosa Lezcano, Antonio, 1949-, dir. ; Moreno Galdó, Antonio, dir.
Pendents.
2021  
2.
243 p, 3.4 MB Identificación y caracterización de mecanismos moleculares implicados en la dishormonogénesis tiroidea mediante la aplicación de técnicas de secuenciación masiva / Soler Colomer, Laura ; Yeste Fernández, Diego, dir. ; Fernández Cancio, Mónica, dir.
Les dishormonogènesis tiroïdals (DT) representen aproximadament el 20% dels casos d'hipotiroïdisme congènit (HC) primari. En aquests pacients s'acostuma a identificar una glàndula tiroide in situ (GIS) normal o augmentada de mida. [...]
Las dishormonogénesis tiroideas (DT) representan aproximadamente el 20% de los casos de hipotiroidismo congénito (HC) primario. En estos pacientes se suele identificar una glándula tiroidea in situ (GIS) normal o aumentada de tamaño. [...]
Thyroid dyshormonogenesis (TD) represent approximately 20% of cases of primary congenital hypothyroidism (CH). In these patients, a normal or enlarged thyroid gland in situ (GIS) is usually identified. [...]

2020  
3.
157 p, 1.5 MB Crecimiento en pacientes nacidos Pequeños para Edad Gestacional sin crecimiento recuperador tratados con hormona de crecimiento desde edad prepuberal hasta talla adulta / Campos-Martorell, Ariadna ; Yeste Fernández, Diego, dir. ; Fernández Cancio, Mónica, dir. ; Universitat Autònoma de Barcelona. Departament de Pediatria, d'Obstetrícia i Ginecologia i de Medicina Preventiva
Los nacidos Pequeños para Edad Gestacional (PEG) sin crecimiento recuperador son tributarios de recibir tratamiento con hormona de crecimiento (GH), que les permite alcanzar una talla adulta superior a menos de 2 desviaciones estándar (DE). [...]
[Barcelona] : Universitat Autònoma de Barcelona, 2016  

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