Lista de obras - Anne Goriely - Dominio Público Uruguay

"Selfish spermatogonial selection": a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders

artículo científico publicado en 2013

Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

artículo científico publicado en 2009

Advanced paternal age effects in neurodevelopmental disorders-review of potential underlying mechanisms

artículo científico publicado en 2017

Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition

artículo científico publicado en 2009

Cellular correlates of selfish spermatogonial selection.

artículo científico publicado en 2016

Cellular evidence for selfish spermatogonial selection in aged human testes

artículo científico publicado en 2013

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

artículo científico publicado en 2013

Chromatin and Single-Cell RNA-Seq Profiling Reveal Dynamic Signaling and Metabolic Transitions during Human Spermatogonial Stem Cell Development

artículo científico publicado en 2017

Cisplatin and carboplatin result in similar gonadotoxicity in immature human testis with implications for fertility preservation in childhood cancer

artículo científico publicado en 2020

Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline

artículo científico publicado en 2013

Decoding germline de novo point mutations

artículo científico publicado en 2016

Drosophila Goosecoid requires a conserved heptapeptide for repression of paired-class homeoprotein activators.

artículo científico publicado en 1998

Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice

artículo científico publicado en 2011

Early posterior neural tissue is induced by FGF in the chick embryo.

artículo científico publicado en 1998

Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line

artículo científico publicado en 2003

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

artículo científico publicado en 2015

Fibroblast growth factor receptor 2, gain-of-function mutations, and tumourigenesis: investigating a potential link

artículo científico publicado en 2005

GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia

scientific article published on 10 September 2013

Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia

artículo científico publicado en 2005

Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.

artículo científico publicado en 2010

Gonadal mosaicism and non-invasive prenatal diagnosis for 'reassurance' in sporadic paternal age effect (PAE) disorders

artículo científico publicado en 2017

Lune/eye gone, a Pax-like protein, uses a partial paired domain and a homeodomain for DNA recognition

artículo científico publicado en 1998

Missing heritability: paternal age effect mutations and selfish spermatogonia

artículo científico publicado en 2010

Munster, a novel paired-class homeobox gene specifically expressed in the Drosophila larval eye.

artículo científico publicado en 1999

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

scientific article published on 29 June 2016

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

artículo científico publicado en 2015

OCT2, SSX and SAGE1 reveal the phenotypic heterogeneity of spermatocytic seminoma reflecting distinct subpopulations of spermatogonia

artículo científico publicado en 2011

Opposing FGF and retinoid pathways control ventral neural pattern, neuronal differentiation, and segmentation during body axis extension

artículo científico publicado en 2003

Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings

artículo científico publicado en 2007

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

artículo científico publicado en 2016

Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease ⬇️

artículo científico publicado el 10 de febrero de 2012

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases

artículo científico publicado en 2017

Santorini mutation detection meeting 2011: rapid advance in sequencing technology poses challenges for interpretation of genetic variations

artículo científico publicado en 2012

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

artículo científico publicado en 2018

Selfish spermatogonial selection: evidence from an immunohistochemical screen in testes of elderly men

artículo científico publicado en 2012

Teasing apart the multiple roles of Shp2 (Ptpn11) in spermatogenesis

artículo científico publicado en 2020

The Dynamic Transcriptional Cell Atlas of Testis Development during Human Puberty

artículo científico publicado en 2020

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

artículo científico publicado en 2016

The adult human testis transcriptional cell atlas

scholarly article by Jingtao Guo published in October 2018

The determination of sense organs in Drosophila: effect of the neurogenic mutations in the embryo ⬇️

artículo científico publicado el 1 de diciembre de 1991

The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors

artículo científico publicado en 2019

The impact of paternal age on new mutations and disease in the next generation

artículo científico publicado en 2022

The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males

artículo científico publicado en 2006

Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes.

artículo científico publicado en 2016

Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.

artículo científico publicado en 2017

amplimap: a versatile tool to process and analyze targeted NGS data

artículo científico publicado en 2020

amplimap: a versatile tool to process and analyze targeted NGS data

scientific article published on 01 December 2019

c-Irx2 expression reveals an early subdivision of the neural plate in the chick embryo.

artículo científico publicado en 1999

Lista de obras de Anne Goriely

"Selfish spermatogonial selection": a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders

Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

Advanced paternal age effects in neurodevelopmental disorders-review of potential underlying mechanisms

Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition

Cellular correlates of selfish spermatogonial selection.

Cellular evidence for selfish spermatogonial selection in aged human testes

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

Chromatin and Single-Cell RNA-Seq Profiling Reveal Dynamic Signaling and Metabolic Transitions during Human Spermatogonial Stem Cell Development

Cisplatin and carboplatin result in similar gonadotoxicity in immature human testis with implications for fertility preservation in childhood cancer

Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline

Decoding germline de novo point mutations

Drosophila Goosecoid requires a conserved heptapeptide for repression of paired-class homeoprotein activators.

Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice

Early posterior neural tissue is induced by FGF in the chick embryo.

Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Fibroblast growth factor receptor 2, gain-of-function mutations, and tumourigenesis: investigating a potential link

GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia

Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia

Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.

Gonadal mosaicism and non-invasive prenatal diagnosis for 'reassurance' in sporadic paternal age effect (PAE) disorders

Lune/eye gone, a Pax-like protein, uses a partial paired domain and a homeodomain for DNA recognition

Missing heritability: paternal age effect mutations and selfish spermatogonia

Munster, a novel paired-class homeobox gene specifically expressed in the Drosophila larval eye.

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

OCT2, SSX and SAGE1 reveal the phenotypic heterogeneity of spermatocytic seminoma reflecting distinct subpopulations of spermatogonia

Opposing FGF and retinoid pathways control ventral neural pattern, neuronal differentiation, and segmentation during body axis extension

Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease ⬇️

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases

Santorini mutation detection meeting 2011: rapid advance in sequencing technology poses challenges for interpretation of genetic variations

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

Selfish spermatogonial selection: evidence from an immunohistochemical screen in testes of elderly men

Teasing apart the multiple roles of Shp2 (Ptpn11) in spermatogenesis

The Dynamic Transcriptional Cell Atlas of Testis Development during Human Puberty

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

The adult human testis transcriptional cell atlas

The determination of sense organs in Drosophila: effect of the neurogenic mutations in the embryo ⬇️

The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors

The impact of paternal age on new mutations and disease in the next generation

The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males

Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes.

Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.

amplimap: a versatile tool to process and analyze targeted NGS data

amplimap: a versatile tool to process and analyze targeted NGS data

c-Irx2 expression reveals an early subdivision of the neural plate in the chick embryo.