Lista de obras - Anne-Lise Delezoide - Dominio Público Uruguay

A dramatic fetal outcome following transplacental transfer of dasatinib

artículo científico publicado en 2012

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

artículo científico

BBS10 mutations are common in 'Meckel'-type cystic kidneys

artículo científico publicado en 2010

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

artículo científico publicado en 2009

Coexpression of Wilms' tumor suppressor 1 (WT1) and androgen receptor (AR) in the genital tract of human male embryos and regulation of AR promoter activity by WT1.

artículo científico publicado en 2007

Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy

artículo científico

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III

artículo científico publicado en 2009

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

artículo científico publicado en 2010

Erratum to First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond–Blackfan anemia ⬇️

artículo científico publicado el 1 de abril de 2013

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia

artículo científico publicado en 2013

Expression of fibroblast growth factors 18 and 23 during human embryonic and fetal development

artículo científico publicado en 2004

Expression of the RSK2 gene during early human development

artículo científico publicado en 2004

Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases

artículo científico publicado en 2016

Fetal fibrochondrogenesis at 26 weeks' gestation

artículo científico publicado en 2002

First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond-Blackfan anemia

artículo científico publicado en 2013

Glial cell-derived neurotrophic factor expression in normal human lung and congenital cystic adenomatoid malformation

artículo científico publicado en 2002

Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome

artículo científico publicado en 2006

Lack of renal 11 beta-hydroxysteroid dehydrogenase type 2 at birth, a targeted temporal window for neonatal glucocorticoid action in human and mice

artículo científico publicado en 2012

Long-term outcome of prenatally detected posterior urethral valves: single center study of 65 cases managed by primary valve ablation

artículo científico publicado en 2007

Low renal mineralocorticoid receptor expression at birth contributes to partial aldosterone resistance in neonates

artículo científico publicado en 2009

Management strategy in pregnancies with elevated second-trimester maternal serum alpha-fetoprotein based on a second assay

artículo científico publicado en 2013

Monocytic cells derived from human embryonic stem cells and fetal liver share common differentiation pathways and homeostatic functions

artículo científico publicado en 2011

Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy.

artículo científico publicado en 2013

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

artículo científico publicado en 2009

Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

artículo científico publicado en 2005

New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling

artículo científico publicado en 2009

Parathyroid hormone receptor type 1/Indian hedgehog expression is preserved in the growth plate of human fetuses affected with fibroblast growth factor receptor type 3 activating mutations

artículo científico publicado en 2002

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

artículo científico publicado en 2009

Prevalence, timing of diagnosis and mortality of newborns with congenital heart defects: a population-based study ⬇️

artículo científico publicado el 11 de agosto de 2012

RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

artículo científico publicado en 2011

Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system

artículo científico publicado en 2006

Safety study of Ciprofloxacin in newborn mice

artículo científico publicado en 2015

Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations

artículo científico publicado en 2006

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

artículo científico publicado en 2011

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

artículo científico publicado en 2015

Ultrasound assessment of the prognosis in triplet pregnancies

artículo científico publicado en 2009

Zygosity and chorionicity in triplet pregnancies: new data

artículo científico publicado en 2008

Lista de obras de Anne-Lise Delezoide

A dramatic fetal outcome following transplacental transfer of dasatinib

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

BBS10 mutations are common in 'Meckel'-type cystic kidneys

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

Coexpression of Wilms' tumor suppressor 1 (WT1) and androgen receptor (AR) in the genital tract of human male embryos and regulation of AR promoter activity by WT1.

Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

Erratum to First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond–Blackfan anemia ⬇️

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia

Expression of fibroblast growth factors 18 and 23 during human embryonic and fetal development

Expression of the RSK2 gene during early human development

Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases

Fetal fibrochondrogenesis at 26 weeks' gestation

First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond-Blackfan anemia

Glial cell-derived neurotrophic factor expression in normal human lung and congenital cystic adenomatoid malformation

Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome

Lack of renal 11 beta-hydroxysteroid dehydrogenase type 2 at birth, a targeted temporal window for neonatal glucocorticoid action in human and mice

Long-term outcome of prenatally detected posterior urethral valves: single center study of 65 cases managed by primary valve ablation

Low renal mineralocorticoid receptor expression at birth contributes to partial aldosterone resistance in neonates

Management strategy in pregnancies with elevated second-trimester maternal serum alpha-fetoprotein based on a second assay

Monocytic cells derived from human embryonic stem cells and fetal liver share common differentiation pathways and homeostatic functions

Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy.

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling

Parathyroid hormone receptor type 1/Indian hedgehog expression is preserved in the growth plate of human fetuses affected with fibroblast growth factor receptor type 3 activating mutations

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

Prevalence, timing of diagnosis and mortality of newborns with congenital heart defects: a population-based study ⬇️

RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system

Safety study of Ciprofloxacin in newborn mice

Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

Ultrasound assessment of the prognosis in triplet pregnancies

Zygosity and chorionicity in triplet pregnancies: new data