Lista de obras - Sandra Daack-Hirsch - Dominio Público Uruguay

'Information is information': a public perspective on incidental findings in clinical and research genome-based testing

artículo científico publicado en 2013

A case of 3q29 microdeletion syndrome involving oral cleft inherited from a nonaffected mosaic parent: molecular analysis and ethical implications

artículo científico publicado en 2010

A closer look at the recommended criteria for disclosing genetic results: perspectives of medical genetic specialists, genomic researchers, and institutional review board chairs

artículo científico publicado en 2013

A genome wide linkage scan for cleft lip and palate and dental anomalies

article published in 2008

A genome-wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11-23

artículo científico publicado en 2007

A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

artículo científico publicado en 1998

A practical first step to integrating genetics into the curriculum

artículo científico

All things considered, my risk for diabetes is medium: A risk personalization process of familial risk for type 2 diabetes

artículo científico publicado en 2019

Association of MSX1 and TGFB3 with nonsyndromic clefting in humans

artículo científico publicado en 1998

Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts

artículo científico publicado en 2008

Candidate genes for nonsyndromic cleft lip and palate and maternal cigarette smoking and alcohol consumption: evaluation of genotype-environment interactions from a population-based case-control study of orofacial clefts

artículo científico publicado en 1999

Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate

artículo científico publicado en 1998

Communication about Congenital Adrenal Hyperplasia: Perspective of Filipino Families

artículo científico publicado en 2016

Dermatoglyphic Pattern Types in Subjects with Nonsyndromic Cleft Lip with or without Cleft Palate (CL/P) and Their Unaffected Relatives in the Philippines

scholarly article by Nicole M. Scott et al published July 2005 in Cleft Palate: Craniofacial Journal

Disclosure of incidental genomic findings involving children: are we making progress?

Educating future nursing scientists: Recommendations for integrating omics content in PhD programs.

artículo científico publicado en 2015

Evaluation of the Perception of Risk Factors for Type 2 Diabetes Instrument in an At-Risk, Nondiabetic Population

artículo científico publicado en 2016

FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate

artículo científico publicado en 2009

Fetal genetic risk of isolated cleft lip only versus isolated cleft lip and palate: a subphenotype analysis using two population-based studies of orofacial clefts in Scandinavia

artículo científico publicado en 2010

Filipino explanatory models of cleft lip with or without cleft palate

artículo científico publicado en 2010

Five-Year Bibliometric Review of Genomic Nursing Science Research

artículo científico publicado en 2016

Genetic determinants of facial clefting: analysis of 357 candidate genes using two national cleft studies from Scandinavia

artículo científico publicado en 2009

Genetics specialists' perspectives on disclosure of genomic incidental findings in the clinical setting

artículo científico publicado en 2012

Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results

scientific article published on 11 June 2009

Impaired FGF signaling contributes to cleft lip and palate

artículo científico publicado en 2007

Informed consent and genomic incidental findings: IRB chair perspectives

artículo científico publicado en 2011

Integrating genetics and genomics into nursing curricula: you can do it too!

artículo científico publicado en 2013

Integrating genomics into undergraduate nursing education

artículo científico

Interaction between IRF6 and TGFA genes contribute to the risk of nonsyndromic cleft lip/palate

artículo científico publicado en 2012

Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate

artículo científico publicado en 2004

Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia

artículo científico publicado en 2010

Maternal vitamin B-6 and folate status and risk of oral cleft birth defects in the Philippines

artículo científico publicado en 2004

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

artículo científico publicado en 2005

Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.

artículo científico publicado en 2004

Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.

artículo científico publicado en 2009

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

artículo científico publicado en 2002

PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations

artículo científico publicado en 2006

Parental perspectives on the diagnostic process for Duchenne and Becker muscular dystrophy

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

artículo científico publicado en 2009

Researcher and institutional review board chair perspectives on incidental findings in genomic research

artículo científico publicado en 2012

Review: `A different type of appointment': the experiences of parents who have children with intellectual disabilities referred for genetic investigation

article

The International Society of Nurses in Genetics (ISONG) 2015 World Congress: Epigenetics Across the Life Span

artículo científico publicado en 2016

The disclosure of incidental genomic findings: an "ethically important moment" in pediatric research and practice

artículo científico publicado en 2013

The effect of follow-up on limiting non-participation bias in genetic epidemiologic investigations

artículo científico publicado en 1998

The importance of patient engagement

artículo científico publicado en 2013

The role of patient engagement in personalized healthcare

Type 2 diabetes familial risk personalization process profiles: Implications for patient-provider communication

artículo científico publicado en 2019

Women's knowledge and use of prenatal screening tests

artículo científico publicado en 2016

Working-Class Filipino Women’s Perspectives on Factors That Facilitate or Hinder Prenatal Micronutrients Supplementation to Prevent Congenital Anomalies

article published in 2011

X-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate

artículo científico publicado en 2007

Lista de obras de Sandra Daack-Hirsch

'Information is information': a public perspective on incidental findings in clinical and research genome-based testing

A case of 3q29 microdeletion syndrome involving oral cleft inherited from a nonaffected mosaic parent: molecular analysis and ethical implications

A closer look at the recommended criteria for disclosing genetic results: perspectives of medical genetic specialists, genomic researchers, and institutional review board chairs

A genome wide linkage scan for cleft lip and palate and dental anomalies

A genome-wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11-23

A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

A practical first step to integrating genetics into the curriculum

All things considered, my risk for diabetes is medium: A risk personalization process of familial risk for type 2 diabetes

Association of MSX1 and TGFB3 with nonsyndromic clefting in humans

Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts

Candidate genes for nonsyndromic cleft lip and palate and maternal cigarette smoking and alcohol consumption: evaluation of genotype-environment interactions from a population-based case-control study of orofacial clefts

Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate

Communication about Congenital Adrenal Hyperplasia: Perspective of Filipino Families

Dermatoglyphic Pattern Types in Subjects with Nonsyndromic Cleft Lip with or without Cleft Palate (CL/P) and Their Unaffected Relatives in the Philippines

Disclosure of incidental genomic findings involving children: are we making progress?

Educating future nursing scientists: Recommendations for integrating omics content in PhD programs.

Evaluation of the Perception of Risk Factors for Type 2 Diabetes Instrument in an At-Risk, Nondiabetic Population

FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate

Fetal genetic risk of isolated cleft lip only versus isolated cleft lip and palate: a subphenotype analysis using two population-based studies of orofacial clefts in Scandinavia

Filipino explanatory models of cleft lip with or without cleft palate

Five-Year Bibliometric Review of Genomic Nursing Science Research

Genetic determinants of facial clefting: analysis of 357 candidate genes using two national cleft studies from Scandinavia

Genetics specialists' perspectives on disclosure of genomic incidental findings in the clinical setting

Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results

Impaired FGF signaling contributes to cleft lip and palate

Informed consent and genomic incidental findings: IRB chair perspectives

Integrating genetics and genomics into nursing curricula: you can do it too!

Integrating genomics into undergraduate nursing education

Interaction between IRF6 and TGFA genes contribute to the risk of nonsyndromic cleft lip/palate

Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate

Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia

Maternal vitamin B-6 and folate status and risk of oral cleft birth defects in the Philippines

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.

Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations

Parental perspectives on the diagnostic process for Duchenne and Becker muscular dystrophy

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

Researcher and institutional review board chair perspectives on incidental findings in genomic research

Review: `A different type of appointment': the experiences of parents who have children with intellectual disabilities referred for genetic investigation

The International Society of Nurses in Genetics (ISONG) 2015 World Congress: Epigenetics Across the Life Span

The disclosure of incidental genomic findings: an "ethically important moment" in pediatric research and practice

The effect of follow-up on limiting non-participation bias in genetic epidemiologic investigations

The importance of patient engagement

The role of patient engagement in personalized healthcare

Type 2 diabetes familial risk personalization process profiles: Implications for patient-provider communication

Women's knowledge and use of prenatal screening tests

Working-Class Filipino Women’s Perspectives on Factors That Facilitate or Hinder Prenatal Micronutrients Supplementation to Prevent Congenital Anomalies

X-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate