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List of works by Antonio Pérez-Aytés

Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy ⬇️

scientific article published on March 31, 2012

Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway

scientific article

Artificial reproductive techniques and epigenetic alterations: Additional comments to the article by Arcos-Machancoses et al. ().

scientific article

Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients

scientific article published on 4 September 2014

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

scientific article published on 20 September 2012

Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis.

scientific article published in August 2008

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

scientific article

Fetal surgery in 1992

scientific article published on 01 October 1993

First-trimester diagnosis of thrombocytopenia-absent radius (TAR) syndrome in a triplet pregnancy

scientific article published on 01 April 2005

Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein

scientific article

In silico identification of new candidate genes for hereditary congenital facial paresis.

scientific article published on 21 February 2011

In utero exposure to mycophenolate mofetil: A characteristic phenotype?

scientific article published on 01 January 2008

Lip pits and Van der Woude syndrome. Description of a new familial case

scientific article published on 01 January 1990

Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2.

scientific article published in August 2001

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

scientific article

Mycophenolate mofetil during pregnancy: some words of caution.

scientific article published in July 2008

Mycophenolate mofetil embryopathy: A newly recognized teratogenic syndrome.

scientific article

Non-immunological hydrops fetalis and intrapericardial teratoma: case report and review.

scientific article published on September 1995

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.

scientific article published on 22 July 2015

Pena- Shokeir syndrome

scientific article published on 01 February 1998

Postnatal development of fetuses with a single umbilical artery: differences between malformed and non-malformed infants

scientific article published on 25 March 2014

Preaxial hallucal polydactyly as a marker for diabetic embryopathy

scientific article published on 01 January 2009

Salmonella infection in children. Epidemiological and clinical considerations (author's transl)

scientific article published in May 1978

Salmonellosis in children. II: management and follow-up (author's transl)

scientific article published on 01 October 1978

Schwartz-Jampel syndrome type 2 versus Stüve-Wiedemann syndrome

scientific article published in May 2002

Silver-Rusell syndrome caused by epigenetic alteration in a child conceived by intrauterine insemination from donor sperm

scientific article published on 04 August 2015

Single aberrant umbilical artery in a fetus with severe caudal defects: sirenomelia or caudal dysgenesis

scientific article published on 01 April 1997

Subdural hematomas in neonates. Surgical treatment.

scientific article published in January 1981

The effect of moderate intake of alcohol during pregnancy on the weight of the newborn

scientific article published on 01 May 1994

Urethral obstruction sequence and lower limb deficiency: evidence for the vascular disruption hypothesis.

scientific article published in September 1993

X-linked hydrocephalus: another two families with an L1 mutation.

scientific article published in January 2003

[Abdominal palpation in the screening of urinary tract anomalies: still helpful?]

scientific article published on 01 September 1997

[Bilateral palpebral coloboma: an infrequent ocular malformation]

scientific article published on 01 October 2006

[Genetics and dysmorphology in the context of pediatric subspecialties]

scientific article published on 01 September 1999

[Macrocephaly-cutis marmorata telangectasica congenita: another case of a newly recognized entity]

scientific article published on 01 October 1999

[Spontaneous resolution of a congenital depressed skull fracture]

scientific article published on 01 January 2001

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