Citation Impact
Citing Papers
A Decade of Molecular Studies of Fragile X Syndrome
2002
The X chromosome and fragile X mental retardation
2002
The fragile X syndrome.
1998
The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein
1993
Essential role for KH domains in RNA binding: Impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome
1994
Epigenetic Variation Illustrated by DNA Methylation Patterns of the Fragile-X Gene FMR1
1997
Advances in Molecular Analysis of Fragile X Syndrome
1994
Velo‐cardio‐facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region
1994
Triplet Repeat Expansion Mutations: The Example of Fragile X Syndrome
1995
MEC-2 Is Recruited to the Putative Mechanosensory Complex in C. elegans Touch Receptor Neurons through Its Stomatin-like Domain
2004 StandoutNobel
Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints
1998
The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer
1993 Standout
Isolation and mapping of cosmid markers on human chromosome 22, including one within the submicroscopically deleted region of DiGeorge syndrome
1994
DNA methylation patterns and epigenetic memory
2002 Standout
Excess of deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature
1995
A simple technique for quantitation of low levels of DNA damage in individual cells
1988 Standout
The T-box factor MLS-1 acts as a molecular switch during specification of nonstriated muscle in C. elegans
2002 StandoutNobel
Epigenetics in human disease and prospects for epigenetic therapy
2004 StandoutNature
Structural basis for triplet repeat disorders: a computational analysis
1999 StandoutNobel
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
1994 StandoutNature
Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.
1993
JNK1: A protein kinase stimulated by UV light and Ha-Ras that binds and phosphorylates the c-Jun activation domain
1994 Standout
The ground state of embryonic stem cell self-renewal
2008 StandoutNature
The FHIT Gene, Spanning the Chromosome 3p14.2 Fragile Site and Renal Carcinoma–Associated t(3;8) Breakpoint, Is Abnormal in Digestive Tract Cancers
1996 Standout
Autism spectrum disorder in fragile X syndrome: A longitudinal evaluation
2009
Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents
1992 StandoutNobel
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features
2015 Standout
The KRAB Zinc Finger Gene Encodes an RNA-binding Protein Tightly Associated with the Nuclear Matrix
1996
Preimplantation genetic diagnosis
2002
REPuter: the manifold applications of repeat analysis on a genomic scale
2001 Standout
Role of the retinoblastoma protein in the pathogenesis of human cancer.
1997 StandoutNobel
FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
2011 Standout
MEX-3 Is a KH Domain Protein That Regulates Blastomere Identity in Early C. elegans Embryos
1996 StandoutNobel
Molecular Definition of 22q11 Deletions in 151 Velo-Cardio-Facial Syndrome Patients
1997
Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain
1993
Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area22q11.2: Report of five families with a review of the literature
1996
Deletions and microdeletions of 22q11.2 in velo‐cardio‐facial syndrome
1992
Velo‐cardio‐facial syndrome: Frequency and extent of 22q1l deletions
1995
Sunburn and p53 in the onset of skin cancer
1994 StandoutNature
DNA Damage and Oxygen Radical Toxicity
1988 StandoutScience
A gene expression atlas of the central nervous system based on bacterial artificial chromosomes
2003 StandoutNature
Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region
1995
Low-Copy Repeats Mediate the Common 3-Mb Deletion in Patients with Velo-cardio-facial Syndrome
1999
Differential gene expression in the hippocampus of the Df1/+ mice: A model for 22q11.2 deletion syndrome and schizophrenia
2007
Neural Science: A Century of Progress and the Mysteries that Remain
2000 StandoutNobel
‘Small Changes' to Diet and Physical Activity Behaviors for Weight Management
2013 Standout
Reverse Mutation in Myotonic Dystrophy
1993
Isolation and Characterization of a Gene from the DiGeorge Chromosomal Region Homologous to the MouseTbx1Gene
1997
Der(22) Syndrome and Velo-Cardio-Facial Syndrome/DiGeorge Syndrome Share a 1.5-Mb Region of Overlap on Chromosome 22q11
1999
Genomic Aberrations and Survival in Chronic Lymphocytic Leukemia
2000 Standout
Trinucleotide repeats and genome variation
1993
Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus
1992
A point mutation in the FMR-1 gene associated with fragile X mental retardation
1993
Chromosomal microdeletions: dissecting del22q11 syndrome
2001
Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene
1995
Recurrent miscarriage
2006 Standout
Cyclins and cancer II: Cyclin D and CDK inhibitors come of age
1994 Standout
The 22q11 deletion syndromes
2000
Developmental genetics of the heart
1996
The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
1993
Obesity in children and young people: a crisis in public health
2004 Standout
Physical linkage of the fragile site FRA11B and a Jacobsen Syndrome chromosome deletion breakpoint in 11q23. 3
1994
Identification of Cyclobutane Pyrimidine Dimer-Responsive Genes Using UVB-Irradiated Human Keratinocytes Transfected with In Vitro-Synthesized Photolyase mRNA
2015 StandoutNobel
A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review
2009
Genetic Alterations of Cyclins, Cyclin-Dependent Kinases, and Cdk Inhibitors in Human Cancer
1996
Chemistry and biochemistry of 4-hydroxynonenal, malonaldehyde and related aldehydes
1991 Standout
Hypermutability and mismatch repair deficiency in RER+ tumor cells
1993 StandoutNobel
Molecular Recognition of Protein−Ligand Complexes: Applications to Drug Design
1997 Standout
Checkpoints: Controls That Ensure the Order of Cell Cycle Events
1989 StandoutScienceNobel
Cyclin D1 transgene impedes lymphocyte maturation and collaborates in lymphomagenesis with the myc gene.
1994
The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development.
1997
Ascorbate is an outstanding antioxidant in human blood plasma.
1989 Standout
Prooxidant States and Tumor Promotion
1985 StandoutScience
Cancer Cell Cycles
1996 StandoutScience
Abnormal dendritic spines in fragile X knockout mice: Maturation and pruning deficits
1997 Standout
The Caenorhabditis elegans Heterochronic Regulator LIN-14 Is a Novel Transcription Factor That Controls the Developmental Timing of Transcription from the Insulin/Insulin-Like Growth Factor Gene ins-33 by Direct DNA Binding
2005 StandoutNobel
Protease inhibitors reduce the frequency of spontaneous chromosome abnormalities in cells from patients with Bloom syndrome.
1984
Normal oxidative damage to mitochondrial and nuclear DNA is extensive.
1988 Standout
AnFgf8mouse mutant phenocopies human 22q11 deletion syndrome
2002 StandoutNobel
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
1993 Standout
Neural Science
2000 StandoutNobel
Fmr1 knockout mice: A model to study fragile X mental retardation
1994
Retinoblastoma Protein Contains a C-terminal Motif That Targets It for Phosphorylation by Cyclin-cdk Complexes
1999 StandoutNobel
Reactive oxygen intermediates as apparently widely used messengers in the activation of the NF-kappa B transcription factor and HIV-1.
1991 Standout
Dietary Carcinogens and Anticarcinogens
1983 StandoutScience
Conditional Deletion of Focal Adhesion Kinase Leads to Defects in Ventricular Septation and Outflow Tract Alignment
2007 StandoutNobel
Translational Suppression by Trinucleotide Repeat Expansion at FMR1
1995 Science
The ?Cat Eye syndrome?: Dicentric small marker chromosome probably derived from a No. 22 (Tetrasomy 22pter?q11) associated with a characteristic phenotype
1981
Cytotoxicity and metabolism of 4-hydroxy-2-nonenal and 2-nonenal in H2O2-resistant cell lines. Do aldehydic by-products of lipid peroxidation contribute to oxidative stress?
1990 StandoutNobel
Bilirubin Is an Antioxidant of Possible Physiological Importance
1987 StandoutScience
The cyclin D1 gene is a target of the β-catenin/LEF-1 pathway
1999 Standout
Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome.
1995
Sensitivity of bloom syndrome fibroblasts to mitomycin C
1984
Tumor promoter phorbol 12-myristate 13-acetate induces a clastogenic factor in human lymphocytes.
1982
Conserved Structures and Diversity of Functions of RNA-Binding Proteins
1994 StandoutScience
Cytogenetics of Bloom's syndrome
1986
Mouse neurexin-1α deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
2009 StandoutNobel
Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes.
1993
t(11;14)-positive mantle cell lymphomas exhibit complex karyotypes and share similarities with B-cell chronic lymphocytic leukemia
2000
Works of P Jalbert being referenced
Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity
1995
Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
1991
Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome
1990
Non‐Hodgkin's lymphomas with t(11;14)(q13;q32): a subset of mantle zone/intermediate lymphocytic lymphoma?
1991
Bloom's syndrome: In vitro correction of the sister chromatid exchange rate by normal cells
1984
Di George syndrome and 22q11 rearrangements
1986
Chromosome breakage factor in the plasma of two Bloom's syndrome patients
1982
Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
1992
Reciprocal translocations: A way to predict the mode of imbalanced segregation by pachytene-diagram drawing
1980
A new case of partial trisomy 15q-
1979