Lista de obras - Antonio Pérez-Aytés - Dominio Público Uruguay

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2008

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

artículo científico publicado en 2015

Fetal surgery in 1992

scientific article published on 01 October 1993

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

artículo científico publicado en 2005

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

artículo científico publicado en 2003

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

artículo científico publicado en 2011

In utero exposure to mycophenolate mofetil: A characteristic phenotype?

artículo científico publicado en 2008

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

artículo científico publicado en 1990

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

artículo científico publicado en 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

artículo científico publicado en 2014

Mycophenolate mofetil during pregnancy: some words of caution.

artículo científico publicado en 2008

Mycophenolate mofetil embryopathy: A newly recognized teratogenic syndrome.

artículo científico publicado en 2016

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

artículo científico publicado en 1995

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

artículo científico publicado en 2015

Pena- Shokeir syndrome

artículo científico publicado el 1 de febrero de 1998

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

artículo científico publicado en 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)

artículo científico publicado en 1978

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

artículo científico publicado en 1978

Schwartz-Jampel syndrome type 2 versus Stüve-Wiedemann syndrome

artículo científico publicado en 2002

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

artículo científico publicado en 2015

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

artículo científico publicado en 1997

Subdural hematomas in neonates. Surgical treatment.

artículo científico publicado en 1981

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

artículo científico publicado en 1994

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

artículo científico publicado en 1993

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

artículo científico publicado en 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]

artículo científico publicado en 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]

artículo científico publicado en 2001

Alteraciones de los genes de la vía RAS-MAPK en 200 pacientes españoles con síndrome de Noonan y otros síndromes neurocardiofaciocutáneos. Genotipo y cardiopatía ⬇️

artículo científico publicado el 31 de marzo de 2012

Lista de obras de Antonio Pérez-Aytés

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

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

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

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

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

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

Fetal surgery in 1992

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

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

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

In utero exposure to mycophenolate mofetil: A characteristic phenotype?

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

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

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

Mycophenolate mofetil during pregnancy: some words of caution.

Mycophenolate mofetil embryopathy: A newly recognized teratogenic syndrome.

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

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

Pena- Shokeir syndrome

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

Preaxial hallucal polydactyly as a marker for diabetic embryopathy

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

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

Schwartz-Jampel syndrome type 2 versus Stüve-Wiedemann syndrome

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

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

Subdural hematomas in neonates. Surgical treatment.

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

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

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

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

[Bilateral palpebral coloboma: an infrequent ocular malformation]

[Genetics and dysmorphology in the context of pediatric subspecialties]

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

[Spontaneous resolution of a congenital depressed skull fracture]

Alteraciones de los genes de la vía RAS-MAPK en 200 pacientes españoles con síndrome de Noonan y otros síndromes neurocardiofaciocutáneos. Genotipo y cardiopatía ⬇️