Lista de obras -

A de-novo interstitial microduplication involving 2p16.1-p15 and mirroring 2p16.1-p15 microdeletion syndrome: Clinical and molecular analysis

artículo científico publicado en 2015

Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome

artículo científico publicado en 2014

Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1-8 does not cause Beals syndrome

scientific article published on 20 July 2020

Chromosomal Microarray Analysis (CMA) a Clinical Diagnostic Tool in the Prenatal and Postnatal Settings

artículo científico

Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies

artículo científico publicado en 2018

Chromosomal microarray findings in pregnancies with an isolated pelvic kidney

artículo científico publicado en 2018

Chromosomal microarray should be performed for cases of fetal short long bones detected prenatally

artículo científico publicado en 2020

Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies

artículo científico publicado en 2019

Cytogenetic analysis in fetuses with late onset abnormal sonographic findings

artículo científico publicado en 2017

Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting

artículo científico publicado en 2010

High-frequency low-penetrance copy-number variant classification: should we revise the existing guidelines?

scientific article published on 28 April 2020

Homozygous MED25 mutation implicated in eye-intellectual disability syndrome

artículo científico publicado en 2015

In Reply

Is fetal isolated double renal collecting system an indication for chromosomal microarray?

scientific article published on 15 May 2019

Isolated fetal horseshoe kidney does not seem to increase the risk for abnormal chromosomal microarray results

artículo científico publicado en 2018

Microarray analysis in pregnancies with isolated echogenic bowel

artículo científico publicado en 2018

Microarray analysis in pregnancies with isolated unilateral kidney agenesis

artículo científico publicado en 2018

Microarray findings in pregnancies with oligohydramnios - a retrospective cohort study and literature review

scientific article published on 07 December 2019

Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.

artículo científico publicado en 2013

Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12.

artículo científico publicado en 2012

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

artículo científico publicado en 2011

Noncoding copy-number variations are associated with congenital limb malformation.

artículo científico publicado en 2017

Prenatal clubfoot increases the risk for clinically significant chromosomal microarray results - Analysis of 269 singleton pregnancies

artículo científico publicado en 2020

Prenatal microarray analysis in right aortic arch-a retrospective cohort study and review of the literature

artículo científico publicado en 2018

Prenatal screening: current practice, new developments, ethical challenges

artículo científico publicado en 2015

RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome

artículo científico publicado en 2009

Risk of Clinically Significant Chromosomal Microarray Analysis Findings in Fetuses With Nuchal Translucency From 3.0 mm Through 3.4 mm

artículo científico publicado en 2020

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system

artículo científico publicado en 2010

Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center

artículo científico publicado en 2020

The Yield of Chromosomal Microarray in Pregnancies Complicated with Fetal Growth Restriction Can Be Predicted According to Clinical Parameters

artículo científico publicado en 2020

The rare 13q33-q34 microdeletions: eight new patients and review of the literature

scientific article published on 18 July 2019

The yield of chromosomal microarray analysis among pregnancies terminated due to fetal malformations

scientific article published on 23 January 2020

What have we learned from 691 prenatal chromosomal microarrays for ventricular septal defects?

scientific article published on 19 August 2019

When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations

artículo científico

When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretation

scientific article published on 17 August 2020

Lista de obras de

A de-novo interstitial microduplication involving 2p16.1-p15 and mirroring 2p16.1-p15 microdeletion syndrome: Clinical and molecular analysis

Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome

Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1-8 does not cause Beals syndrome

Chromosomal Microarray Analysis (CMA) a Clinical Diagnostic Tool in the Prenatal and Postnatal Settings

Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies

Chromosomal microarray findings in pregnancies with an isolated pelvic kidney

Chromosomal microarray should be performed for cases of fetal short long bones detected prenatally

Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies

Cytogenetic analysis in fetuses with late onset abnormal sonographic findings

Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting

High-frequency low-penetrance copy-number variant classification: should we revise the existing guidelines?

Homozygous MED25 mutation implicated in eye-intellectual disability syndrome

In Reply

Is fetal isolated double renal collecting system an indication for chromosomal microarray?

Isolated fetal horseshoe kidney does not seem to increase the risk for abnormal chromosomal microarray results

Microarray analysis in pregnancies with isolated echogenic bowel

Microarray analysis in pregnancies with isolated unilateral kidney agenesis

Microarray findings in pregnancies with oligohydramnios - a retrospective cohort study and literature review

Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.

Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12.

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

Noncoding copy-number variations are associated with congenital limb malformation.

Prenatal clubfoot increases the risk for clinically significant chromosomal microarray results - Analysis of 269 singleton pregnancies

Prenatal microarray analysis in right aortic arch-a retrospective cohort study and review of the literature

Prenatal screening: current practice, new developments, ethical challenges

RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome

Risk of Clinically Significant Chromosomal Microarray Analysis Findings in Fetuses With Nuchal Translucency From 3.0 mm Through 3.4 mm

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system

Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center

The Yield of Chromosomal Microarray in Pregnancies Complicated with Fetal Growth Restriction Can Be Predicted According to Clinical Parameters

The rare 13q33-q34 microdeletions: eight new patients and review of the literature

The yield of chromosomal microarray analysis among pregnancies terminated due to fetal malformations

What have we learned from 691 prenatal chromosomal microarrays for ventricular septal defects?

When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations

When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretation