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Antonio Perez Aytes
Antonio Perez Aytes
Emeritus. Neonatal Research Unit. IIS Hospital La Fe. Valencia. Spain
Verified email at gva.es
Title
Cited by
Cited by
Year
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
2622003
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
1802005
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
1752014
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
1712008
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
1522010
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
1212013
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
1072015
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
1062008
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
862017
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
792010
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
461995
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
402015
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
391997
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
372009
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
352012
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
352008
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
272005
Síndrome de Moebius
AP Aytés
Protoc diagn ter pediatr 1, 80-84, 2010
222010
Möbius sequence, hypogenitalism, cerebral, and skeletal malformations in two brothers
GR Criado, AP Aytés
American journal of medical genetics 86 (5), 492-496, 1999
221999
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
202010
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