Palomares Bralo, María maria.palomares@urjc.es
Actividades
- Artículos 63
- Libros 0
- Capítulos de libro 0
- Congresos 0
- Documentos de trabajo 0
- Informes técnicos 0
- Proyectos de investigación 0
- Tesis dirigidas 0
- Patentes o licencias de software 0
AMOTL1-Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities
- Gallego-Zazo, Natalia
- Tenorio-Castano, Jair
- Parra, Alejandro
- Nevado, Julian
- Cazalla, Mario
- Lucas-Castro, Elsa
- Heath, Karen E
- Palomares, Maria
- Soengas, Emma
- Lledin, M Dolores
- Larrea, Emily
- Olveira, Antonio
- Morte, Beatriz
- Carracedo, Angel
- Lapunzina, Pablo
Clinical Genetics (p. 234-236) - 1/2/2025
- ISSN 00099163
Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling
- Boonsawat P
- Asadollahi R
- Niedrist D
- Steindl K
- Begemann A
- Joset P
- Bhoj EJ
- Li D
- Zackai E
- Vetro A
- Barba C
- Guerrini R
- Whalen S
- Keren B
- Khan A
- Jing D
- Palomares Bralo M
- Rikeros Orozco E
- Hao Q
- Schlott Kristiansen B
- Zheng B
- Donnelly D
- Clowes V
- Zweier M
- Papik M
- Siegel G
- Sabatino V
- Mocera M
- Horn AHC
- Sticht H
- Rauch A
American Journal Of Human Genetics (p. 1994-2011) - 5/9/2024
- ISSN 00029297
Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder.
- María Del Rocío PB
- Palomares Bralo M
- Vanhooydonck M
- Hamerlinck L
- D'haene E
- Leimbacher S
- Jacobs EZ
- De Cock L
- D'haenens E
- Dheedene A
- Malfait Z
- Vantomme L
- Silva A
- Rooney K
- Santos-Simarro F
- Lleuger-Pujol R
- García-Miñaúr S
- Losantos-García I
- Menten B
- Gestri G
- Ragge N
- Sadikovic B
- Bogaert E
- Syx D
- Callewaert B
- Vergult S
8/8/2024
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
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse
- Denomme-Pichon, Anne-Sophie
- Collins, Stephan C
- Bruel, Ange-Line
- Mikhaleva, Anna
- Wagner, Christel
- Vancollie, Valerie E
- Thomas, Quentin
- Chevarin, Martin
- Weber, Mathys
- Prada, Carlos E
- Overs, Alexis
- Palomares-Bralo, Marta
- Santos-Simarro, Fernando
- Pacio-Miguez, Marta
- Busa, Tiffany
- Legius, Eric
- Bacino, Carlos A
- Rosenfeld, Jill A
- Le Guyader, Gwenael
- Egloff, Matthieu
- Le Guillou, Xavier
- Mencarelli, Maria Antonietta
- Renieri, Alessandra
- Grosso, Salvatore
- Levy, Jonathan
- Dozieres, Blandine
- Desguerre, Isabelle
- Vitobello, Antonio
- Duffourd, Yannis
- Lelliott, Christopher J
- Thauvin-Robinet, Christel
- Philippe, Christophe
- Faivre, Laurence
- Yalcin, Binnaz
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
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
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