Lista de obras - Marsha D Speevak - Dominio Público Uruguay

A fourth case of Feingold syndrome type 2: psychiatric presentation and management.

artículo científico publicado en 2014

A large data resource of genomic copy number variation across neurodevelopmental disorders

artículo científico publicado en 2019

A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome

artículo científico publicado en 2009

Alternatively spliced, truncated human BRCA2 isoforms contain a novel coding exon.

artículo científico publicado en 2003

An algorithm for the prenatal detection of chromosome anomalies by QF-PCR and G-banded analysis

artículo científico publicado en 2008

Charcot-Marie-Tooth 1B caused by expansion of a familial myelin protein zero (MPZ) gene duplication

artículo científico publicado en 2013

Construction and analysis of microcell hybrids containing dual selectable tagged human chromosomes.

artículo científico publicado en 1995

Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population

artículo científico publicado en 2015

Detection at amniocentesis of a maternally inherited X;Y translocation

artículo científico publicado en 1985

Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes.

artículo científico publicado en 2001

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

artículo científico publicado en 2013

Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients

artículo científico publicado en 2013

Human chromosome 3 mediates growth arrest and suppression of apoptosis in microcell hybrids.

artículo científico publicado en 1996

Identification of chromosomes implicated in suppression of apoptosis in somatic cell hybrids

scientific article published on 01 November 1994

Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia

artículo científico publicado en 2017

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

artículo científico publicado en 2016

Isodicentric Yp: prenatal diagnosis and outcome in 12 cases.

artículo científico publicado en 2006

Molecular and cytogenetic characterization of a prenatally ascertained de novo (X;Y) translocation

scientific article published on 01 January 2001

Molecular characterization of an inherited ring (19) demonstrating ring opening

artículo científico publicado en 2003

Mosaic r(13) in an infant with aprosencephaly

artículo científico publicado en 1993

Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair

artículo científico publicado en 2011

OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome

artículo científico publicado en 2018

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays

artículo científico publicado en 2013

Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus

article

Pure partial trisomy of 2q22-q23 secondary to a paternally inherited direct insertion: a rare duplication

artículo científico publicado en 2003

Stable transfer of zebrafish chromosome segments into mouse cells

scientific article published on 01 April 1996

The BRCA1 S1715N mutation segregates with breast and ovarian cancer in an extended family pedigree.

artículo científico publicado en 2012

The detection of chromosome anomalies by QF‐PCR and residual risks as compared to G‐banded analysis ⬇️

artículo científico publicado el 24 de febrero de 2011

Whole-cell and microcell fusion for the identification of natural regulators of telomerase.

artículo científico

Lista de obras de Marsha D Speevak

A fourth case of Feingold syndrome type 2: psychiatric presentation and management.

A large data resource of genomic copy number variation across neurodevelopmental disorders

A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome

Alternatively spliced, truncated human BRCA2 isoforms contain a novel coding exon.

An algorithm for the prenatal detection of chromosome anomalies by QF-PCR and G-banded analysis

Charcot-Marie-Tooth 1B caused by expansion of a familial myelin protein zero (MPZ) gene duplication

Construction and analysis of microcell hybrids containing dual selectable tagged human chromosomes.

Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population

Detection at amniocentesis of a maternally inherited X;Y translocation

Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients

Human chromosome 3 mediates growth arrest and suppression of apoptosis in microcell hybrids.

Identification of chromosomes implicated in suppression of apoptosis in somatic cell hybrids

Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

Isodicentric Yp: prenatal diagnosis and outcome in 12 cases.

Molecular and cytogenetic characterization of a prenatally ascertained de novo (X;Y) translocation

Molecular characterization of an inherited ring (19) demonstrating ring opening

Mosaic r(13) in an infant with aprosencephaly

Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair

OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays

Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus

Pure partial trisomy of 2q22-q23 secondary to a paternally inherited direct insertion: a rare duplication

Stable transfer of zebrafish chromosome segments into mouse cells

The BRCA1 S1715N mutation segregates with breast and ovarian cancer in an extended family pedigree.

The detection of chromosome anomalies by QF‐PCR and residual risks as compared to G‐banded analysis ⬇️

Whole-cell and microcell fusion for the identification of natural regulators of telomerase.