Antonio Perez Aytes
Antonio Perez Aytes
Emeritus. Neonatal Research Unit. IIS Hospital La Fe. Valencia. Spain
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Cited by
Cited by
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein
L McGregor, V Makela, SM Darling, S Vrontou, G Chalepakis, C Roberts, ...
Nature genetics 34 (2), 203-208, 2003
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs
S Jadeja, I Smyth, JE Pitera, MS Taylor, M Van Haelst, E Bentley, ...
Nature genetics 37 (5), 520-525, 2005
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked …
FJ Kaiser, M Ansari, D Braunholz, M Concepción Gil-Rodríguez, ...
Human molecular genetics 23 (11), 2888-2900, 2014
In utero exposure to mycophenolate mofetil: a characteristic phenotype?
A Perez‐Aytes, A Ledo, V Boso, P Sáenz, E Roma, JL Poveda, M Vento
American Journal of Medical Genetics Part A 146 (1), 1-7, 2008
Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46, XY disorder of sex development
L Audí, M Fernández-Cancio, A Carrascosa, P Andaluz, N Torán, C Piró, ...
The Journal of Clinical Endocrinology & Metabolism 95 (4), 1876-1888, 2010
The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia
JA Caparrós-Martín, M Valencia, E Reytor, M Pacheco, M Fernandez, ...
Human molecular genetics 22 (1), 124-139, 2013
De novo mutations in PLXND1 and REV3L cause Möbius syndrome
L Tomas-Roca, A Tsaalbi-Shtylik, JG Jansen, MK Singh, JA Epstein, ...
Nature communications 6 (1), 7199, 2015
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis
P Hermanns, S Unger, A Rossi, A Perez-Aytes, H Cortina, L Bonafé, ...
The American Journal of Human Genetics 82 (6), 1368-1374, 2008
Mycophenolate mofetil embryopathy: a newly recognized teratogenic syndrome
A Perez-Aytes, P Marin-Reina, V Boso, A Ledo, JC Carey, M Vento
European journal of medical genetics 60 (1), 16-21, 2017
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features
S Unger, E Lausch, A Rossi, A Mégarbané, D Sillence, M Alcausin, ...
American journal of medical genetics Part A 152 (10), 2543-2549, 2010
Non‐immunological hydrops fetalis and intrapericardial teratoma: case report and review
A Perez‐Aytes, N Sanchis, A Barbal, MJ Artés, J Domene, M Chirivella, ...
Prenatal diagnosis 15 (9), 859-863, 1995
Single aberrant umbilical artery in a fetus with severe caudal defects: sirenomelia or caudal dysgenesis
A Perez‐Aytes, L Montero, J Gomez, A Paya
American journal of medical genetics 69 (4), 409-412, 1997
Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes
F Martinez, P Marín-Reina, A Sanchis-Calvo, A Perez-Aytés, S Oltra, ...
Pediatric Research 78 (5), 533-539, 2015
Preaxial hallucal polydactyly as a marker for diabetic embryopathy
MP Adam, L Hudgins, JC Carey, BD Hall, K Coleman, KW Gripp, ...
Birth Defects Research Part A: Clinical and Molecular Teratology 85 (1), 13-19, 2009
Mycophenolate mofetil during pregnancy: some words of caution
M Vento, A Perez Aytes, A Ledo, V Boso, JC Carey
Pediatrics 122 (1), 184-185, 2008
Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy
B Ezquieta, JL Santomé, A Carcavilla, E Guillen-Navarro, A Pérez-Aytés, ...
Revista Espańola de Cardiología (English Edition) 65 (5), 447-455, 2012
Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature
PC Vasudevan, S Garcia-Minaur, MP Botella, A Perez-Aytes, NL Shannon, ...
Clinical Dysmorphology 14 (3), 109-116, 2005
Síndrome de Moebius
AP Aytés
Protoc diagn ter pediatr 1, 80-84, 2010
Möbius sequence, hypogenitalism, cerebral, and skeletal malformations in two brothers
GR Criado, AP Aytés
American journal of medical genetics 86 (5), 492-496, 1999
Grupo de Apoyo al Síndrome de Insensibilidad a los Andrógenos (GrApSIA). Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46 …
L Audi, M Fernández-Cancio, A Carrascosa, P Andaluz, N Torán, C Piró, ...
J Clin Endocrinol Metab 95 (4), 1876-88, 2010
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