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Advanced Search Results For "Sanchez, Maria Jose Lorda"

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 "Sanchez, Maria Jose Lorda"
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Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

Publication Type: Academic Journal

Source(s): npj Genomic Medicine, Vol 7, Iss 1, Pp 1-7 (2022)

Abstract: Abstract Bardet–Biedl syndrome (BBS) is an autosomal recessive ciliopathy characterized by extensive inter- and intra-familial variability, in which oligogenic interactions have been also reported. Our main goal is to elucidate the role of mutational l...

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Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders

Publication Type: Academic Journal

Source(s): npj Genomic Medicine, Vol 6, Iss 1, Pp 1-12 (2021)

Abstract: Abstract Most consensus recommendations for the genetic diagnosis of neurodevelopmental disorders (NDDs) do not include the use of next generation sequencing (NGS) and are still based on chromosomal microarrays, such as comparative genomic hybridizatio...

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Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood

Publication Type: Academic Journal

Source(s): Diagnostics, Vol 3, Iss 2, Pp 283-290 (2013)

Abstract: Since the discovery of the presence of fetal DNA in maternal blood, non-invasive fetal sex determination has been the test most widely translated into clinical practice. To date there is no agreement between the different laboratories performing such t...

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Geochemical dataset of high-pressure acid migmatites from the Cabo Ortegal Complex (NW Spain)

Publication Type: Academic Journal

Source(s): Data in Brief, Vol 40, Iss , Pp 107823- (2022)

Abstract: This brief note presents geochemical data from rock samples from the Cabo Ortegal Complex (NW Spain). The samples belong to acid lithologies within the mainly basic to intermediate granulite unit that have been poorly investigated so far. For this comm...

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Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

Publication Type: Academic Journal

Source(s): PLoS ONE, Vol 12, Iss 2, p e0172363 (2017)

Abstract: Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases. First-tier genetic testing for newborn with aniridia, to detect 11p13 rearrangements, in...

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Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies

Publication Type: Academic Journal

Source(s): Journal of Clinical Medicine, Vol 3, Iss 3, Pp 913-922 (2014)

Abstract: Prenatal diagnosis (PD) is recommended in pregnancies after a Preimplantation Genetic Diagnosis (PGD). However, conventional PD entails a risk of fetal loss which makes PGD patients reluctant to undergo obstetric invasive procedures. The presence of ci...

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Fragmenta Chorologica Occidentale

Publication Type: Academic Journal

Source(s): Anales del Jardín Botánico de Madrid, Vol 55, Iss 2, Pp 433-456 (1997)

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Fragmenta chorologica occidentalia 5694-5956

Publication Type: Academic Journal

Source(s): Anales del Jardín Botánico de Madrid, Vol 55, Iss 1, Pp 137-154 (1997)

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Category Accessibility: An Alternative Explanation for the Effects of "Patterning" on Aggressive Behavior.

Publication Type: Academic Journal

Source(s): Aggressive Behavior; 1992, Vol. 18 Issue 6, p401-410, 10p

Abstract: Focuses on the effect patterning facilitation in aggressive behavior. Explanations offered to account for the fact that observers tend to do the same thing as an observed person; Role attributed to patterning as an augmentor of aggressiveness; Concept...

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