Palomares Bralo, María maria.palomares@urjc.es
Actividades
- Artículos 73
- Libros 0
- Capítulos de libro 0
- Congresos 0
- Documentos de trabajo 2
- Informes técnicos 0
- Proyectos de investigación 0
- Tesis dirigidas 0
- Patentes o licencias de software 0
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants
- van der Laan L
- Lauffer P
- Rooney K
- Silva A
- Haghshenas S
- Relator R
- Levy MA
- Trajkova S
- Huisman SA
- Bijlsma EK
- Kleefstra T
- van Bon BW
- Baysal Ö
- Zweier C
- Palomares-Bralo M
- Fischer J
- Szakszon K
- Faivre L
- Piton A
- Mesman S
- Hochstenbach R
- Elting MW
- van Hagen JM
- Plomp AS
- Mannens MMAM
- Alders M
- van Haelst MM
- Ferrero GB
- Brusco A
- Henneman P
- Sweetser DA
- Sadikovic B
- Vitobello A
- Menke LA
Human Genetics And Genomics Advances - 18/7/2024
10.1016/j.xhgg.2024.100289 Ver en origen
- ISSN 26662477
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review
- Palma-Milla C
- Prat-Planas A
- Soengas-Gonda E
- Centeno-Pla M
- Sánchez-Pozo J
- Lazaro-Rodriguez I
- Quesada-Espinosa JF
- Arteche-Lopez A
- Olival J
- Pacio-Miguez M
- Palomares-Bralo M
- Santos-Simarro F
- Cancho-Candela R
- Vázquez-López M
- Seidel V
- Martinez-Monseny AF
- Casas-Alba D
- Grinberg D
- Balcells S
- Serrano M
- Rabionet R
- Martin MA
- Urreizti R
Pediatric Neurology (p. 8-17) - 1/6/2024
10.1016/j.pediatrneurol.2024.03.008 Ver en origen
- ISSN 08878994
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
- Pérez Baca MdR
- Jacobs EZ
- Vantomme L
- Leblanc P
- Bogaert E
- Dheedene A
- De Cock L
- Haghshenas S
- Foroutan A
- Levy MA
- Kerkhof J
- McConkey H
- Chen CA
- Batzir NA
- Wang X
- Palomares M
- Carels M
- Agrawal P
- Armstrong Scott D
- Barkoudah E
- Bellini M
- Beneteau C
- Bjørgo K
- Brooks A
- Brown N
- Castle A
- Castro D
- Chorin O
- Cleghorn M
- Clement E
- Coman D
- Costin C
- Devriendt K
- Dong D
- Dries A
- Duelund Hjortshøj T
- Dyment D
- Eng C
- Genetti C
- Grano S
- Henneman P
- Heron D
- Hoffmann K
- Hom J
- Du H
- Iascone M
- Isidor B
- Järvelä IE
- Jones J
- Keren B
- Koenig MK
- Kohlhase J
- Lalani S
- Le Caignec C
- Lewis A
- Liu P
- Lovgren A
- Lupski JR
- Lyons M
- Lysy P
- Manning M
- Marcelis C
- McLean SD
- Mercie S
- Mertens M
- Molin A
- Nizon M
- Nugent KM
- Öhman S
- O\'Leary M
- Okashah Littlejohn R
- Petit F
- Pfundt R
- Pottocki L
- Raas-Rotschild A
- Ranguin K
- Revencu N
- Rosenfeld J
- Rhodes L
- Santos Simmaro F
- Sals K
- Schieving J
- Schrauwen I
- Schuurs-Hoeijmakers JHM
- Seaby EG
- Sheffer R
- Snijders Blok L
- Sørensen KP
- Srivastava S
- Stark Z
- Stoeva R
- Stutterd C
- Tan NB
- Mathiesen Torring P
- Vanakker O
- van der Laan L
- Ververi A
- Villavicencio-Lorini P
- Vincent M
- Wand D
American Journal Of Human Genetics (p. 509-528) - 7/3/2024
10.1016/j.ajhg.2024.01.013 Ver en origen
- ISSN 00029297
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review
- Pascual, P
- Tenorio-Castano, J
- Mignot, C
- Afenjar, A
- Arias, P
- Gallego-Zazo, N
- Parra, A
- Miranda, L
- Cazalla, M
- Silván, C
- Heron, D
- Keren, B
- Popa, I
- Palomares, M
- Rikeros, E
- Ramos, FJ
- Almoguera, B
- Ayuso, C
- Swafiri, ST
- Barbero, AIS
- Srinivasan, VM
- Gowda, VK
- Morleo, M
- Nigro, V
- D'Arrigo, S
- Ciaccio, C
- Mesa, CM
- Paumard, B
- Guillen, G
- Anton, ATS
- Jimenez, MD
- Seidel, V
- Suárez, J
- Cormier-Daire, V
- Nevado, J
- Lapunzina, P
Genes - 1/9/2023
10.3390/genes14091664 Ver en origen
- ISSN 20734425
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse
- Denommé-Pichon, AS
- Collins, SC
- Bruel, AL
- Mikhaleva, A
- Wagner, C
- Vancollie, VE
- Thomas, Q
- Chevarin, M
- Weber, M
- Prada, CE
- Overs, A
- Palomares-Bralo, M
- Santos-Simarro, F
- Pacio-Míguez, M
- Busa, T
- Legius, E
- Bacino, CA
- Rosenfeld, JA
- Le Guyader, G
- Egloff, M
- Le Guillou, X
- Mencarelli, MA
- Renieri, A
- Grosso, S
- Levy, J
- Dozières, B
- Desguerre, I
- Vitobello, A
- Duffourd, Y
- Lelliott, CJ
- Thauvin-Robinet, C
- Philippe, C
- Faivre, L
- Yalcin, B
Genetics In Medicine - 29/5/2023
10.1016/j.gim.2023.100835 Ver en origen
- ISSN 10983600
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
- Aerden M
- Denommé-Pichon AS
- Bonneau D
- Bruel AL
- Delanne J
- Gérard B
- Mazel B
- Philippe C
- Pinson L
- Prouteau C
- Putoux A
- Tran Mau-Them F
- Viora-Dupont É
- Vitobello A
- Ziegler A
- Piton A
- Isidor B
- Francannet C
- Maillard PY
- Julia S
- Philippe A
- Schaefer E
- Koene S
- Ruivenkamp C
- Hoffer M
- Legius E
- Theunis M
- Keren B
- Buratti J
- Charles P
- Courtin T
- Misra-Isrie M
- van Haelst M
- Waisfisz Q
- Wieczorek D
- Schmetz A
- Herget T
- Kortüm F
- Lisfeld J
- Debray FG
- Bramswig NC
- Atallah I
- Fodstad H
- Jouret G
- Almoguera B
- Tahsin-Swafiri S
- Santos-Simarro F
- Palomares-Bralo M
- López-González V
- Kibaek M
- Tørring PM
- Renieri A
- Bruno LP
- Õunap K
- Wojcik M
- Hsieh TC
- Krawitz P
- Van Esch H
European Journal Of Human Genetics (p. 461-468) - 1/4/2023
10.1038/s41431-023-01307-x Ver en origen
- ISSN 10184813
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
- Martinez-Cayuelas E
- Blanco-Kelly F
- Lopez-Grondona F
- Swafiri ST
- Lopez-Rodriguez R
- Losada-Del Pozo R
- Mahillo-Fernandez I
- Moreno B
- Rodrigo-Moreno M
- Casas-Alba D
- Lopez-Gonzalez A
- García-Miñaúr S
- Ángeles Mori M
- Pacio-Minguez M
- Rikeros-Orozco E
- Santos-Simarro F
- Cruz-Rojo J
- Quesada-Espinosa JF
- Sanchez-Calvin MT
- Sanchez-Del Pozo J
- Bernado Fonz R
- Isidoro-Garcia M
- Ruiz-Ayucar I
- Alvarez-Mora MI
- Blanco-Lago R
- De Azua B
- Eiris J
- Garcia-Peñas JJ
- Gil-Fournier B
- Gomez-Lado C
- Irazabal N
- Lopez-Gonzalez V
- Madrigal I
- Malaga I
- Martinez-Menendez B
- Ramiro-Leon S
- Garcia-Hoyos M
- Prieto-Matos P
- Lopez-Pison J
- Aguilera-Albesa S
- Alvarez S
- Fernández-Jaén A
- Llano-Rivas I
- Gener-Querol B
- Ayuso C
- Arteche-Lopez A
- Palomares-Bralo M
- Cueto-González A
- Valenzuela I
- Martinez-Monseny A
- Lorda-Sanchez I
- Almoguera B
Journal Of Medical Genetics (p. 644-654) - 1/1/2023
10.1136/jmg-2022-108632 Ver en origen
- ISSN 00222593
Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype
- Pacio-Miguez, M
- Parrón-Pajares, M
- Gordon, CT
- Santos-Simarro, F
- Jiménez, CR
- Mena, R
- Arenas, IR
- Montaño, VEF
- Fernández, M
- Solís, M
- del Pozo, A
- Amiel, J
- García-Miñaur, S
- Palomares-Bralo, M
American Journal Of Medical Genetics Part a (p. 2819-2824) - 1/9/2022
10.1002/ajmg.a.62883 Ver en origen
- ISSN 15524825
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders
- Levy, Michael A.
- Relator, Raissa
- McConkey, Haley
- Pranckeviciene, Erinija
- Kerkhof, Jennifer
- Barat-Houari, Mouna
- Bargiacchi, Sara
- Biamino, Elisa
- Bralo, Maria Palomares
- Cappuccio, Gerarda
- Ciolfi, Andrea
- Clarke, Angus
- DuPont, Barbara R.
- Elting, Mariet W.
- Faivre, Laurence
- Fee, Timothy
- Ferilli, Marco
- Fletcher, Robin S.
- Cherick, Florian
- Foroutan, Aidin
- Friez, Michael J.
- Gervasini, Cristina
- Haghshenas, Sadegheh
- Hilton, Benjamin A.
- Jenkins, Zandra
- Kaur, Simranpreet
- Lewis, Suzanne
- Louie, Raymond J.
- Maitz, Silvia
- Milani, Donatella
- Morgan, Angela T.
- Oegema, Renske
- Ostergaard, Elsebet
- Pallares, Nathalie R.
- Piccione, Maria
- Plomp, Astrid S.
- Poulton, Cathryn
- Reilly, Jack
- Rius, Rocio
- Robertson, Stephen
- Rooney, Kathleen
- Rousseau, Justine
- Santen, Gijs W. E.
- Santos-Simarro, Fernando
- Schijns, Josephine
- Squeo, Gabriella M.
- St John, Miya
- Thauvin-Robinet, Christel
- Traficante, Giovanna
- van der Sluijs, Pleuntje J.
- Vergano, Samantha A.
- Vos, Niels
- Walden, Kellie K.
- Azmanov, Dimitar
- Balci, Tugce B.
- Banka, Siddharth
- Gecz, Jozef
- Henneman, Peter
- Lee, Jennifer A.
- Mannens, Marcel M. A. M.
- Roscioli, Tony
- Siu, Victoria
- Amor, David J.
- Baynam, Gareth
- Bend, Eric G.
- Boycott, Kym
- Brunetti-Pierri, Nicola
- Campeau, Philippe M.
- Campion, Dominique
- Christodoulou, John
- Dyment, David
- Esber, Natacha
- Fahrner, Jill A.
- Fleming, Mark D.
- Genevieve, David
- Heron, Delphine
- Husson, Thomas
- Kernohan, Kristin D.
- McNeill, Alisdair
- Menke, Leonie A.
- Merla, Giuseppe
- Prontera, Paolo
- Rockman-Greenberg, Cheryl
- Schwartz, Charles
- Skinner, Steven A.
- Stevenson, Roger E.
- Vincent, Marie
- Vitobello, Antonio
- Tartaglia, Marco
- Alders, Marielle
- Tedder, Matthew L.
- Sadikovic, Bekim;
Human Mutation (p. 1609-1628) - 21/8/2022
10.1002/humu.24446 Ver en origen
- ISSN 10597794
The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome
- Popp, Bernt
- Bienvenu, Thierry
- Giurgea, Irina
- Metreau, Julia
- Kraus, Cornelia
- Reis, Andre
- Fischer, Jan
- Bralo, Maria Palomares
- Tenorio-Castano, Jair
- Lapunzina, Pablo
- Almoguera, Berta
- Lopez-Grondona, Fermina
- Sticht, Heinrich
- Zweier, Christiane;
Clinical Genetics (p. 517-523) - 16/8/2022
10.1111/cge.14206 Ver en origen
- ISSN 00099163
Este/a investigador/a no tiene libros.
Este/a investigador/a no tiene capítulos de libro.
Este/a investigador/a no tiene congresos.
Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus
- Nieves-Moreno, Maria
- Noval, Susana
- Peralta, Jesus
- Palomares-Bralo, Maria
- del Pozo, Angela
- Garcia-Minaur, Sixto
- Santos-Simarro, Fernando
- Vallespin, Elena;
Genes - 1/1/2021
10.3390/genes12050707 Ver en origen
- ISSN 20734425
Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion
- Fernandez, Luis
- Lapunzina, Pablo
- Pajares, Isidora Lopez
- Palomares, Maria
- Martinez, Isabel
- Fernandez, Blanca
- Quero, Jose
- Garcia-Guereta, Luis
- Garcia-Alix, Alfredo
- Burgueros, Margarita
- Galan-Gomez, Enrique
- Carbonell-Perez, Jose Maria
- Perez-Granero, Angeles
- Torres-Juan, Laura
- Heine-Suner, Damia
- Rosell, Jordi
- Delicado, Alicia;
American Journal Of Medical Genetics Part a (p. 1134-1141) - 1/5/2008
10.1002/ajmg.a.32256 Ver en origen
- ISSN 15524825
Este/a investigador/a no tiene informes técnicos.
Este/a investigador/a no tiene proyectos de investigación.
Este/a investigador/a no tiene tesis dirigidas.
Este/a investigador/a no tiene patentes o licencias de software.
Perfiles de investigador/a
-
ORCID
-
Scopus Author ID