Lista de obras - Lisa A Schimmenti - Dominio Público Uruguay

A Catalog of Genetic Syndromes in Childhood Cancer.

artículo científico

A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.

artículo científico publicado en 1994

A novel microdeletion/microduplication syndrome of 19p13.13.

artículo científico publicado en 2010

A primer for morpholino use in zebrafish.

artículo científico publicado en 2009

A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of parents of deaf and hard-of-hearing infants.

artículo científico publicado en 2009

A translocated erythropoietin receptor gene in a human erythroleukemia cell line (TF-1) expresses an abnormal transcript and a truncated protein.

artículo científico publicado en 1995

Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases.

artículo científico publicado en 2016

Analysis of archived newborn dried blood spots (DBS) identifies congenital cytomegalovirus as a major cause of unexplained pediatric sensorineural hearing loss.

artículo científico publicado en 2017

Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma

artículo científico publicado en 2011

Attitudes of the broader hearing, deaf, and hard-of-hearing community toward genetic testing for deafness.

artículo científico publicado en 2003

Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.

artículo científico publicado en 1995

Axenfeld-Rieger syndrome: new perspectives.

artículo científico

Bilateral Labyrinthine and Internal Auditory Canal Enhancement in an Infant With Severe Labyrinthine Dysplasia: A Previously Unreported Phenomenon

artículo científico publicado en 2017

Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature

artículo científico publicado en 2016

Clinical utility gene card for: renal coloboma (Papillorenal) syndrome ⬇️

artículo científico publicado el 16 de febrero de 2011

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

artículo científico publicado en 2017

Cri du chat syndrome and congenital heart disease: a review of previously reported cases and presentation of an additional 21 cases from the Pediatric Cardiac Care Consortium.

artículo científico publicado en 2006

Detection of PAX2 Deletions and Duplications Using Multiplex Ligation-Dependent Probe Amplification ⬇️

artículo científico publicado el 11 de junio de 2013

Development and Notch signaling requirements of the zebrafish choroid plexus

artículo científico publicado en 2008

Duplication of the Down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21

artículo científico publicado en 2005

Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases.

artículo científico publicado en 2011

Ethnic differences in parental perceptions of genetic testing for deaf infants.

artículo científico publicado en 2007

Exclusion of PITX2 mutations as a major cause of CHARGE association

artículo científico publicado en 2002

Expanded newborn screening identifies maternal primary carnitine deficiency

scientific article published on 28 November 2006

Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.

artículo científico publicado en 2008

Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations

artículo científico publicado en 1997

Genetic testing as part of the early hearing detection and intervention (EHDI) process

artículo científico publicado en 2004

Genome-wide reverse genetics framework to identify novel functions of the vertebrate secretome

artículo científico publicado en 2006

Growth hormone deficiency in a child with branchio-oto-renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance

artículo científico publicado en 2020

Hermansky-Pudlak syndrome (HPS5) in a nonagenarian

artículo científico publicado en 2014

Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.

artículo científico publicado en 2013

Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup

artículo científico publicado en 2019

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.

artículo científico publicado en 2008

Identification of two single nucleotide polymorphisms in exon 8 of PAX2.

artículo científico publicado en 1999

Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome

artículo científico publicado en 2008

Keep Swimming Toward Precision Medicine Discoveries

artículo científico publicado en 2016

L-type voltage-gated calcium channel agonists mitigate hearing loss and modify ribbon synapse morphology in the zebrafish model of Usher syndrome type 1

scientific article published on 27 November 2020

Localization of an essential ligand binding determinant of the human erythropoietin receptor to a domain N-terminal to the WSXWS motif: implications for soluble receptor function.

artículo científico publicado en 1995

Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945-2020)

artículo científico publicado en 2020

Monosomy 9p24→pter and trisomy 5q31→qter: Case report and review of two cases ⬇️

artículo científico publicado el 22 de mayo de 1995

Mosaic partial deletion of PTPN12 in a child with interrupted aortic arch type A

artículo científico publicado en 2015

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

artículo científico publicado en 1995

Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux

artículo científico publicado en 1996

Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction

artículo científico publicado en 2003

Necrotizing Enterocolitis in Two Siblings and an Unrelated Infant with Overlapping Chromosome 6q25 Deletions

artículo científico publicado en 2018

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5

artículo científico publicado en 2022

Next generation sequencing in research and diagnostics of ocular birth defects

artículo científico publicado en 2010

Nonhatching Decapsulated Artemia Cysts As a Replacement to Artemia Nauplii in Juvenile and Adult Zebrafish Culture

artículo científico publicado en 2014

Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia

artículo científico publicado en 2003

Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome.

artículo científico publicado en 2003

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

artículo científico publicado en 2015

Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity.

artículo científico publicado en 2015

Prelingual siblings of children with GJB2 hearing loss: issues to consider.

artículo científico publicado en 2005

Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta

scientific article published on 11 March 2020

Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1.

artículo científico publicado en 2010

Renal coloboma syndrome.

artículo científico publicado en 2011

Renal-coloboma syndrome: report of a novel PAX2 gene mutation

artículo científico publicado en 2001

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

artículo científico publicado en 2017

Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria.

artículo científico publicado en 2008

Sharing GJB2/GJB6 genetic test information with family members.

artículo científico publicado en 2007

TLR9 polymorphisms are associated with altered IFN-gamma levels in children with cerebral malaria

artículo científico publicado en 2010

The lineage-specific geneponzr1is essential for zebrafish pronephric and pharyngeal arch development ⬇️

artículo científico publicado el 1 de febrero de 2012

The unique association of iris heterochromia with Hermansky Pudlak syndrome.

artículo científico publicado en 2014

The unique association of iris heterochromia with Hermansky-Pudlak syndrome

artículo científico publicado en 2013

Typical facial clefting and constriction band anomalies: an unusual association in three unrelated patients

artículo científico publicado en 2003

Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene

article

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

artículo científico publicado en 2012

WNT5A mutations in patients with autosomal dominant Robinow syndrome

artículo científico publicado en 2010

Zebrafish and the Cancer Moonshot.

artículo científico publicado en 2017

Zebrafish: A Functional Refuge at the End of an Odyssey.

artículo científico publicado en 2016

Lista de obras de Lisa A Schimmenti

A Catalog of Genetic Syndromes in Childhood Cancer.

A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.

A novel microdeletion/microduplication syndrome of 19p13.13.

A primer for morpholino use in zebrafish.

A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of parents of deaf and hard-of-hearing infants.

A translocated erythropoietin receptor gene in a human erythroleukemia cell line (TF-1) expresses an abnormal transcript and a truncated protein.

Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases.

Analysis of archived newborn dried blood spots (DBS) identifies congenital cytomegalovirus as a major cause of unexplained pediatric sensorineural hearing loss.

Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma

Attitudes of the broader hearing, deaf, and hard-of-hearing community toward genetic testing for deafness.

Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.

Axenfeld-Rieger syndrome: new perspectives.

Bilateral Labyrinthine and Internal Auditory Canal Enhancement in an Infant With Severe Labyrinthine Dysplasia: A Previously Unreported Phenomenon

Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature

Clinical utility gene card for: renal coloboma (Papillorenal) syndrome ⬇️

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Cri du chat syndrome and congenital heart disease: a review of previously reported cases and presentation of an additional 21 cases from the Pediatric Cardiac Care Consortium.

Detection of PAX2 Deletions and Duplications Using Multiplex Ligation-Dependent Probe Amplification ⬇️

Development and Notch signaling requirements of the zebrafish choroid plexus

Duplication of the Down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21

Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases.

Ethnic differences in parental perceptions of genetic testing for deaf infants.

Exclusion of PITX2 mutations as a major cause of CHARGE association

Expanded newborn screening identifies maternal primary carnitine deficiency

Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.

Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations

Genetic testing as part of the early hearing detection and intervention (EHDI) process

Genome-wide reverse genetics framework to identify novel functions of the vertebrate secretome

Growth hormone deficiency in a child with branchio-oto-renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance

Hermansky-Pudlak syndrome (HPS5) in a nonagenarian

Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.

Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.

Identification of two single nucleotide polymorphisms in exon 8 of PAX2.

Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome

Keep Swimming Toward Precision Medicine Discoveries

L-type voltage-gated calcium channel agonists mitigate hearing loss and modify ribbon synapse morphology in the zebrafish model of Usher syndrome type 1

Localization of an essential ligand binding determinant of the human erythropoietin receptor to a domain N-terminal to the WSXWS motif: implications for soluble receptor function.

Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945-2020)

Monosomy 9p24→pter and trisomy 5q31→qter: Case report and review of two cases ⬇️

Mosaic partial deletion of PTPN12 in a child with interrupted aortic arch type A

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux

Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction

Necrotizing Enterocolitis in Two Siblings and an Unrelated Infant with Overlapping Chromosome 6q25 Deletions

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5

Next generation sequencing in research and diagnostics of ocular birth defects

Nonhatching Decapsulated Artemia Cysts As a Replacement to Artemia Nauplii in Juvenile and Adult Zebrafish Culture

Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia

Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome.

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity.

Prelingual siblings of children with GJB2 hearing loss: issues to consider.

Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta

Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1.

Renal coloboma syndrome.

Renal-coloboma syndrome: report of a novel PAX2 gene mutation

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria.

Sharing GJB2/GJB6 genetic test information with family members.

TLR9 polymorphisms are associated with altered IFN-gamma levels in children with cerebral malaria

The lineage-specific geneponzr1is essential for zebrafish pronephric and pharyngeal arch development ⬇️

The unique association of iris heterochromia with Hermansky Pudlak syndrome.

The unique association of iris heterochromia with Hermansky-Pudlak syndrome

Typical facial clefting and constriction band anomalies: an unusual association in three unrelated patients

Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

WNT5A mutations in patients with autosomal dominant Robinow syndrome

Zebrafish and the Cancer Moonshot.

Zebrafish: A Functional Refuge at the End of an Odyssey.