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Reversal by cytidine of cyclopentenyl cytosine-induced toxicity in mice without compromise of antitumor activity

Biochemical pharmacology, 1995-01, Vol.49 (2), p.173-180

1995

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Cellular pharmacology of cyclopentenyl cytosine in Molt-4 lymphoblasts

Cancer research (Chicago, Ill.), 1991-07, Vol.51 (14), p.3733-3740

1991

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Synthesis and Biological Study of the Cyclopentenyl Carbocyclic Nucleoside Analogue of 5-Azacytidine

Nucleosides & nucleotides, 1992-07, Vol.11 (6), p.1123-1135

1992

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Cellular pharmacology of cyclopentenyl cytosine in mold-4 lymphoblasts

Cancer research (Chicago, Ill.), 1991, Vol.51 (14), p.3733-3740

1991

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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

Journal of medical genetics, 2011-06, Vol.48 (6), p.396-406

2011

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Refining the Neuroimaging Definition of the Dandy-Walker Phenotype

American journal of neuroradiology : AJNR, 2022-10, Vol.43 (10), p.1488-1493

2022

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A developmental and genetic classification for midbrain-hindbrain malformations

Brain (London, England : 1878), 2009-12, Vol.132 (12), p.3199-3230

2009

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Therapeutic Hypothermia after In-Hospital Cardiac Arrest in Children

The New England journal of medicine, 2017-01, Vol.376 (4), p.318-329

2017

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ACTA2 -Related Dysgyria: An Under-Recognized Malformation of Cortical Development

American journal of neuroradiology : AJNR, 2022-01, Vol.43 (1), p.146-150

2022

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Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis

American journal of neuroradiology : AJNR, 2023-10, Vol.44 (10), p.1201-1207

2023

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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

Brain (London, England : 1878), 2017-10, Vol.140 (10), p.2610-2622

2017

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PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.287-295

2015

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Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum

American journal of human genetics, 2007-08, Vol.81 (2), p.292-303

2007

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A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome

American journal of human genetics, 2016-06, Vol.98 (6), p.1256-1265

2016

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The molecular landscape of ASPM mutations in primary microcephaly

Journal of medical genetics, 2009-04, Vol.46 (4), p.249-253

2009

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Congenital Zika virus infection as a silent pathology with loss of neurogenic output in the fetal brain

Nature medicine, 2018-03, Vol.24 (3), p.368-374

2018

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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Nature genetics, 2012-08, Vol.44 (8), p.934-940

2012

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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Brain (London, England : 1878), 2011-01, Vol.134 (Pt 1), p.143-156

2011

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Mutations in WDR62 , encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

Nature genetics, 2010-11, Vol.42 (11), p.1015-1020

2010

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WDR62 is associated with the spindle pole and is mutated in human microcephaly

Nature genetics, 2010-11, Vol.42 (11), p.1010-1014

2010

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Costello syndrome: Clinical phenotype, genotype, and management guidelines

American journal of medical genetics. Part A, 2019-09, Vol.179 (9), p.1725-1744

2019

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Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

American journal of human genetics, 2008-08, Vol.83 (2), p.170-179

2008

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NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain

Molecular cell, 2021-11, Vol.81 (22), p.4663-4676.e8

2021

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Reversal by cytidine of cyclopentenyl cytosine-induced toxicity in mice without compromise of antitumor activity

Cellular pharmacology of cyclopentenyl cytosine in Molt-4 lymphoblasts

Synthesis and Biological Study of the Cyclopentenyl Carbocyclic Nucleoside Analogue of 5-Azacytidine

Cellular pharmacology of cyclopentenyl cytosine in mold-4 lymphoblasts

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

Refining the Neuroimaging Definition of the Dandy-Walker Phenotype

A developmental and genetic classification for midbrain-hindbrain malformations

Therapeutic Hypothermia after In-Hospital Cardiac Arrest in Children

ACTA2 -Related Dysgyria: An Under-Recognized Malformation of Cortical Development

Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

Fetal brain lesions after subcutaneous inoculation of Zika virus in a pregnant nonhuman primate

Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome

The molecular landscape of ASPM mutations in primary microcephaly

Congenital Zika virus infection as a silent pathology with loss of neurogenic output in the fetal brain

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Mutations in WDR62 , encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

WDR62 is associated with the spindle pole and is mutated in human microcephaly

Costello syndrome: Clinical phenotype, genotype, and management guidelines

Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain

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