Lista de obras - Frank Kooy - Dominio Público Uruguay

A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families

artículo científico publicado en 2014

A Yeast Artificial Chromosome Contig That Spans the RB1-D13S31 Interval on Human Chromosome 13 and Encompasses the Frequently Deleted Region in B-cell Chronic Lymphocytic Leukemia

article

A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12.

artículo científico publicado en 2010

A de novo balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNA

scientific article published on 13 January 2012

A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review.

artículo científico publicado en 2006

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

artículo científico publicado en 2016

A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome.

artículo científico publicado en 2017

A highly informative dinucleotide repeat polymorphism at D13S201, between RB1 and WND

artículo científico publicado en 1995

A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation

artículo científico publicado en 2005

A mouse model for intellectual disability caused by mutations in the X-linked 2′‑O‑methyltransferase Ftsj1 gene

article

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

artículo científico publicado en 2006

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

artículo científico publicado en 2010

A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11.

artículo científico publicado en 1999

A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome.

artículo científico publicado en 2017

A robust protocol to increase NimbleGen SeqCap EZ multiplexing capacity to 96 samples

artículo científico publicado en 2015

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

scientific article published on 22 August 2019

Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination.

artículo científico publicado en 2001

Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease

artículo científico publicado en 2021

Advances in understanding fragile X syndrome and related disorders

artículo científico

Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation

artículo científico publicado en 2011

Association of hereditary angioedema type 1 with developmental anomalies due to a large and unusual de novo pericentromeric rearrangement of chromosome 11 spanning the entire C1 inhibitor gene (SERPING1)

article

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

artículo científico publicado en 2020

Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency

article

CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1

artículo científico publicado en 2007

Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing

artículo científico publicado en 2014

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

artículo científico publicado en 2008

Clinical delineation of the PACS1-related syndrome--Report on 19 patients.

artículo científico publicado en 2016

Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype

artículo científico publicado en 2005

Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS).

artículo científico publicado en 2005

Craniofacial characteristics of fragile X syndrome in mouse and man.

artículo científico publicado en 2012

Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33).

artículo científico publicado en 2007

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

scientific article published on 24 January 2019

Decreased expression of the GABAA receptor in fragile X syndrome

artículo científico publicado en 2006

Detection and interpretation of genomic structural variation in health and disease.

artículo científico

Diagnostic implications of genetic copy number variation in epilepsy plus

artículo científico publicado en 2019

Discovery of autism/intellectual disability somatic mutations in Alzheimer's brains: mutated ADNP cytoskeletal impairments and repair as a case study

scientific article published on 30 October 2019

Distinct disorders affecting the brain share common genetic origins ⬇️

artículo científico publicado el 11 de febrero de 2010

Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardation

artículo científico publicado en 2007

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

artículo científico publicado en 2016

Effect of genetic background on acoustic startle response in fragile X knockout mice

artículo científico publicado en 2008

Eighth International workshop on the fragile X syndrome and X-linked mental retardation, August 16-22, 1997.

artículo científico publicado en 1999

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

scientific article published on 29 July 2019

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

scientific article published on 26 August 2019

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

artículo científico publicado en 2003

Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS).

artículo científico publicado en 2008

Expression profiling suggests underexpression of the GABA(A) receptor subunit delta in the fragile X knockout mouse model

artículo científico publicado en 2005

FMR1 gene deletion/reversion: a pitfall of fragile X carrier testing

artículo científico publicado en 2003

FRA2A is a CGG repeat expansion associated with silencing of AFF3

artículo científico publicado en 2014

FVB.129P2-Pde6b(+) Tyr(c-ch)/Ant, a sighted variant of the FVB/N mouse strain suitable for behavioral analysis

artículo científico publicado en 2006

Family MRX9 revisited: further evidence for locus heterogeneity in MRX.

artículo científico publicado en 2002

Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities

artículo científico publicado en 2015

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

artículo científico publicado en 2009

Fragile X syndrome at the turn of the century.

artículo científico publicado en 2000

Fragile X syndrome neurobiology translates into rational therapy

artículo científico

Fragile X syndrome phenotype with normal FMR1 gene studies

artículo científico publicado en 2004

Fragile X syndrome: from gene discovery to therapy

artículo científico publicado en 2011

Fragile X syndrome: from molecular genetics to therapy.

artículo científico publicado en 2009

Fragile sites and human disease

artículo científico publicado en 2007

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

artículo científico publicado en 2020

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

artículo científico publicado en 2010

GABA neurotransmitter signaling in the developing mouse lens: dynamic regulation of components and functionality

artículo científico publicado en 2008

GABAergic abnormalities in the fragile X syndrome

artículo científico publicado en 2019

Gaps in Current Autism Research: The Thoughts of the Autism Research Editorial Board and Associate Editors

scientific article published on 26 April 2019

Genetic modifiers in mice: the example of the fragile X mouse model.

artículo científico publicado en 2004

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

scientific article published on 23 May 2019

Germline mutation of microRNA-125a is associated with breast cancer

artículo científico publicado en 2009

Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.

artículo científico publicado en 2012

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

artículo científico publicado en 2017

Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches

artículo científico publicado en 2008

Impaired GABAergic inhibition in the hippocampus of Fmr1 knockout mice

artículo científico publicado en 2016

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

artículo científico

Incomplete Eco RI digestion may lead to false diagnosis of fragile X syndrome

artículo científico publicado en 1998

Influence of fever and flurbiprofen on trypanosome growth

artículo científico publicado en 1990

Insights into GABAAergic system deficits in fragile X syndrome lead to clinical trials

artículo científico publicado en 2014

Involvement and therapeutic potential of the GABAergic system in the fragile X syndrome

artículo científico publicado en 2010

L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns.

artículo científico publicado en 1998

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 01 October 2020

Lessons learned from 40 novel PIGA patients and a review of the literature

scientific article published on 26 May 2020

Long-term potentiation in mice lacking the neural cell adhesion molecule L1.

artículo científico publicado en 2000

Long-term potentiation in the hippocampus of fragile X knockout mice

artículo científico publicado en 1996

Metabonomics adds a new dimension to fragile X syndrome.

artículo científico publicado en 2011

Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells

scientific journal article

Mildly impaired water maze performance in male Fmr1 knockout mice

artículo científico publicado en 1997

Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome

artículo científico publicado en 2014

Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics

artículo científico publicado en 2006

Multiplexed High Resolution Melting Assay for Versatile Sample Tracking in a Diagnostic and Research Setting.

artículo científico publicado en 2015

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

artículo científico publicado en 2013

Mutations in ADNP affect expression and subcellular localization of the protein

artículo científico publicado en 2018

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.

artículo científico publicado en 2016

Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging

artículo científico publicado en 1999

Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum

artículo científico publicado en 2019

Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome

artículo científico publicado en 2016

Of mice and the fragile X syndrome.

artículo científico publicado en 2003

On the DNA content of Trypanosoma cruzi

artículo científico publicado en 1989

Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders

scientific article published on 10 July 2020

PLCB1 epileptic encephalopathies; Review and expansion of the phenotypic spectrum

artículo científico publicado en 2016

PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy

artículo científico publicado en 2019

Pharmacological treatment of fragile X syndrome with GABAergic drugs in a knockout mouse model

artículo científico publicado en 2012

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

artículo científico publicado en 2019

Physical localisation of the chromosomal marker D13S31 places the Wilson disease locus at the junction of bands q14.3 and q21.1 of chromosome 13

artículo científico publicado en 1993

Postmortem examination of two fragile X brothers with an FMR1 full mutation

artículo científico publicado en 1999

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

artículo científico publicado en 2018

Screening for subtelomeric rearrangements using genetic markers in 70 patients with unexplained mental retardation

artículo científico publicado en 2004

Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation.

artículo científico publicado en 2015

Severe mental retardation and macroorchidism without mutation in the FMR1 gene

artículo científico publicado en 1996

Single-Cell and Neuronal Network Alterations in an In Vitro Model of Fragile X Syndrome

scientific article published on 01 January 2020

Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice.

artículo científico publicado en 2000

Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA).

artículo científico publicado en 2004

Subtelomeric imbalances in phenotypically normal individuals

artículo científico publicado en 2007

Subtelomeric rearrangements in the mentally retarded: a comparison of detection methods.

artículo científico publicado en 2005

TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions

artículo científico publicado en 2006

TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation

artículo científico publicado en 2004

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

artículo científico publicado en 2017

Tauopathy in the young autistic brain: novel biomarker and therapeutic target

artículo científico publicado en 2020

The Collaborative Cross, a community resource for the genetic analysis of complex traits

article

The Compassionate Side of Neuroscience: Tony Sermone's Undiagnosed Genetic Journey--ADNP Mutation.

artículo científico publicado en 2015

The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders

artículo científico

The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome

artículo científico publicado en 2000

The complexity of the GABAA receptor shapes unique pharmacological profiles.

scientific article published on 02 July 2009

The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.

artículo científico publicado en 2012

The molecular basis of the folate-sensitive fragile site FRA11A at 11q13.

artículo científico publicado en 2007

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

artículo científico publicado en 2014

The translational regulator FMRP controls lipid and glucose metabolism in mice and humans

scientific article published on 14 January 2019

TheTrypanosoma bruceiDNA polymerase α core subunit gene is developmentally regulated and linked to a constitutively expressed open reading frame ⬇️

artículo científico publicado el 11 de diciembre de 1991

Thoracic dimples and dysmorphic features associated with a partial duplication and triplication of chromosome 12q24

scientific article published on 01 October 2016

Transgenic mouse model for the fragile X syndrome.

artículo científico publicado en 1996

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

artículo científico publicado en 2018

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.

artículo científico publicado en 2014

VariantDB: a flexible annotation and filtering portal for next generation sequencing data

artículo científico publicado en 2014

Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorder

artículo científico publicado en 2016

Lista de obras de Frank Kooy

A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families

A Yeast Artificial Chromosome Contig That Spans the RB1-D13S31 Interval on Human Chromosome 13 and Encompasses the Frequently Deleted Region in B-cell Chronic Lymphocytic Leukemia

A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12.

A de novo balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNA

A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review.

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome.

A highly informative dinucleotide repeat polymorphism at D13S201, between RB1 and WND

A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation

A mouse model for intellectual disability caused by mutations in the X-linked 2′‑O‑methyltransferase Ftsj1 gene

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11.

A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome.

A robust protocol to increase NimbleGen SeqCap EZ multiplexing capacity to 96 samples

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination.

Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease

Advances in understanding fragile X syndrome and related disorders

Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation

Association of hereditary angioedema type 1 with developmental anomalies due to a large and unusual de novo pericentromeric rearrangement of chromosome 11 spanning the entire C1 inhibitor gene (SERPING1)

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency

CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1

Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

Clinical delineation of the PACS1-related syndrome--Report on 19 patients.

Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype

Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS).

Craniofacial characteristics of fragile X syndrome in mouse and man.

Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33).

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Decreased expression of the GABAA receptor in fragile X syndrome

Detection and interpretation of genomic structural variation in health and disease.

Diagnostic implications of genetic copy number variation in epilepsy plus

Discovery of autism/intellectual disability somatic mutations in Alzheimer's brains: mutated ADNP cytoskeletal impairments and repair as a case study

Distinct disorders affecting the brain share common genetic origins ⬇️

Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardation

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

Effect of genetic background on acoustic startle response in fragile X knockout mice

Eighth International workshop on the fragile X syndrome and X-linked mental retardation, August 16-22, 1997.

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS).

Expression profiling suggests underexpression of the GABA(A) receptor subunit delta in the fragile X knockout mouse model

FMR1 gene deletion/reversion: a pitfall of fragile X carrier testing

FRA2A is a CGG repeat expansion associated with silencing of AFF3

FVB.129P2-Pde6b(+) Tyr(c-ch)/Ant, a sighted variant of the FVB/N mouse strain suitable for behavioral analysis

Family MRX9 revisited: further evidence for locus heterogeneity in MRX.

Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Fragile X syndrome at the turn of the century.

Fragile X syndrome neurobiology translates into rational therapy

Fragile X syndrome phenotype with normal FMR1 gene studies

Fragile X syndrome: from gene discovery to therapy

Fragile X syndrome: from molecular genetics to therapy.

Fragile sites and human disease

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

GABA neurotransmitter signaling in the developing mouse lens: dynamic regulation of components and functionality

GABAergic abnormalities in the fragile X syndrome

Gaps in Current Autism Research: The Thoughts of the Autism Research Editorial Board and Associate Editors

Genetic modifiers in mice: the example of the fragile X mouse model.

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

Germline mutation of microRNA-125a is associated with breast cancer

Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches

Impaired GABAergic inhibition in the hippocampus of Fmr1 knockout mice

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

Incomplete Eco RI digestion may lead to false diagnosis of fragile X syndrome

Influence of fever and flurbiprofen on trypanosome growth

Insights into GABAAergic system deficits in fragile X syndrome lead to clinical trials

Involvement and therapeutic potential of the GABAergic system in the fragile X syndrome

L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns.

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Lessons learned from 40 novel PIGA patients and a review of the literature

Long-term potentiation in mice lacking the neural cell adhesion molecule L1.