Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation.

No abstract is available for this paper.

• Publication year

  1997

• Venue

  American Journal of Human Genetics

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine

• Identifiers
  PMID 8981954PMCID PMC1712560
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities

  1996cited by this paper
• A high-density YAC contig map of human chromosome 22.

  1995cited by this paper
• The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

  1995cited by this paper
• Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome.

  1995cited by this paper
• How many genes in the human genome?

  1994cited by this paper
• Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.

  1994cited by this paper
• Healing of broken human chromosomes by the addition of telomeric repeats.

  1994cited by this paper
• X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions.

  1994influential reference
• Long-range restriction map of human chromosome 22q11-22q12 between the lambda immunoglobulin locus and the Ewing sarcoma breakpoint.

  1993cited by this paper
• Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient.

  1993cited by this paper
• Evidence that acrosin activity is important for the development of fusibility of mammalian spermatozoa with the oolemma: inhibitor studies using the golden hamster

  1993cited by this paper
• Inhibition of acrosin activity with a trypsin inhibitor blocks human sperm penetration of the zona pellucida.

  1993cited by this paper
• De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16).

  1993cited by this paper
• Molecular cloning, sequencing and restriction mapping of the genomic sequence encoding human proacrosin.

  1992cited by this paper
• The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes.

  1992cited by this paper
• STS for minisatellite MS607 (D22S163).

  1991cited by this paper
• Acrosin, the peculiar sperm-specific serine protease

  1991cited by this paper
• Origin of human chromosome 2: an ancestral telomere-telomere fusion.

  1991cited by this paper
• Labeling of the centromeric region on human chromosome 8 by in situ hybridization

  1991cited by this paper
• Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.

  1991cited by this paper
• A map of 22 loci on human chromosome 22.

  1991cited by this paper
• Systematic cloning of human minisatellites from ordered array charomid libraries.

  1990cited by this paper
• A TaqI RFLP for the human arylsulfatase A gene.

  1990cited by this paper
• A truncated human chromosome 16 associated with α thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n

  1990cited by this paper
• Low acrosin activity in a subgroup of men with idiopathic infertility dose not correlate with sperm density, percent motility, curvilinear velocity, or linearity.

  1989cited by this paper
• The role of cytologic NOR variants in the etiology of trisomy 21.

  1989cited by this paper
• Primary structure of human proacrosin deduced from its cDNA sequence

  1989cited by this paper
• Cloned DNA probes regionally mapped to human chromosome 21 and their use in determining the origin of nondisjunction.

  1985cited by this paper
• A study of sperm acrosin in patients with unexplained infertility.

  1982cited by this paper

• ATR blocks telomerase from converting DNA breaks into telomeres

  2024cites this paper
• Interstitial telomeric sequences promote gross chromosomal rearrangement via multiple mechanisms

  2024cites this paper
• Zinc deficiency and supplementation in autism spectrum disorder and Phelan‐McDermid syndrome

  2022cites this paper
• Neotelomere formation by human telomerase

  2022cites this paper
• Case Study and Literature Review of Phelan-McDermid Syndrome Caused By a Pathogenic Mutation in The SHANK 3 Gene

  2021cites this paper
• Association of SHANK Family with Neuropsychiatric Disorders: An Update on Genetic and Animal Model Discoveries

  2021cites this paper
• Altered synaptic ultrastructure in the prefrontal cortex of Shank3-deficient rats

  2020cites this paper
• Altered Intestinal Morphology and Microbiota Composition in the Autism Spectrum Disorders Associated SHANK3 Mouse Model

  2019cites this paper
• USP8 Deubiquitinates SHANK3 to Control Synapse Density and SHANK3 Activity-Dependent Protein Levels

  2018cites this paper
• Prospects of Zinc Supplementation in Autism Spectrum Disorders and Shankopathies Such as Phelan McDermid Syndrome

  2018cites this paper
• Zinc deficiency and low enterocyte zinc transporter expression in human patients with autism related mutations in SHANK 3 .

  2018cites this paper
• A sharp Pif1-dependent threshold separates DNA double-strand breaks from critically short telomeres

  2017cites this paper
• Zinc deficiency and low enterocyte zinc transporter expression in human patients with autism related mutations in SHANK3

  2017cites this paper
• Unbalanced Translocation Affecting the Long Arms of Chromosome 10 and 22 Causes Complex Syndromes with Very Severe Neurodevelopmental Delay, Speech Impairment, Autistic Behavior, and Epilepsy

  2017cites this paper
• ASSOCIATION OF THE SHANK3 GENE COUPLED WITH 22Q13.3 DELETION SYNDROME

  2017cites this paper
• A Pif1-dependent threshold separates DNA double-strand breaks and telomeres

  2016cites this paper
• The Recognition and Mobility of DNA-Double Strand Breaks

  2016cites this paper
• DAMAGED BEYOND REPAIR: ALTERNATIVE MECHANISMS TO FIX A CHROMOSOME BREAK by

  2016cites this paper
• Looping Genomes: Diagnostic Change and the Genetic Makeup of the Autism Population1

  2016cites this paper
• Trafic intranucléaire de l’ARN de la télomérase et la réponse aux dommages à l’ADN chez la levure Saccharomyces cerevisiae

  2016influential citation
• Molecular Cytogenetics and Prenatal Diagnosis

  2015cites this paper
• Visible deletions, duplications and insertions

  2014cites this paper
• Chk2 and P53 Regulate the Transmission of Healed Chromosomes in the Drosophila Male Germline

  2014cites this paper
• Human and Primate Subtelomeres

  2014cites this paper
• The trading zone of autism genetics: Examining the intersection of genomic and psychiatric classification

  2014cites this paper
• The trading zone of autism genetics: Examining the intersection of genomic and psychiatric classification

  2014cites this paper
• Subtelomeres

  2014cites this paper
• Functional Annotation of Proteome Encoded by Human Chromosome 22

  2014cites this paper
• Characterization of the Proline-rich Synapse-associated Protein 1 Knockout Mouse

  2013cites this paper
• Modeling autism by SHANK gene mutations in mice.

  2013cites this paper
• Regulation of telomere addition at DNA double-strand breaks

  2013cites this paper
• Telomere Regulation in Arabidopsis thaliana by the CST Capping Complex and DNA Damage Response Proteins

  2013cites this paper
• Mouse Behavioral Models for Autism Spectrum Disorders

  2013cites this paper
• Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

  2012cites this paper
• Telomere dysfunction and chromosome instability.

  2012cites this paper
• Telomerase Regulation in Arabidopsis thaliana

  2012cites this paper
• Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

  2012cites this paper
• Analysis of Telomere Healing of DNA Double-strand Breaks

  2012cites this paper
• Ring Chromosome 22: A Review of the Literature and First Report from India

  2012cites this paper
• Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

  2012cites this paper
• A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan–McDermid syndrome and hypergonadotropic hypogonadism

  2011cites this paper
• The Molecular Dissection of Contiguous Gene Syndromes with a Focus on 4p16 Deletion Syndrome

  2011cites this paper
• Non-telomeric activities of telomerase.

  2011cites this paper
• Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.

  2011cites this paper
• Parameters Affecting Telomere-Mediated Chromosomal Truncation in Arabidopsis[W]

  2011cites this paper
• Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

  2011cites this paper
• PIF1 disruption or NBS1 hypomorphism does not affect chromosome healing or fusion resulting from double-strand breaks near telomeres in murine embryonic stem cells.

  2011cites this paper
• Chromosome 22q13 Rearrangements Causing Global Developmental Delay and Autistic Spectrum Disorder

  2010cites this paper
• Das Fragile-X-Syndrom und andere Ursachen mentaler Retardierung: Analysen zur Optimierung der klinischen und molekularen Differentialdiagnostik

  2010cites this paper
• Telomere healing following DNA polymerase arrest‐induced breakages is likely the main mechanism generating chromosome 4p terminal deletions

  2010influential citation
• Analysis of telomere dynamics in human tissues

  2010cites this paper
• Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.

  2009cites this paper
• Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.

  2009cites this paper
• A case with a ring chromosome 22.

  2008cites this paper
• Nouveaux syndromes microdélétionnels

  2008cites this paper
• Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

  2008cites this paper
• Telomerase-dependent and -independent chromosome healing in mouse embryonic stem cells.

  2008cites this paper
• Endings in the middle: current knowledge of interstitial telomeric sequences.

  2008cites this paper
• Reduction in Telomere Length in Individuals Exposed In Utero to Glycol Ether

  2007cites this paper
• Break-Induced Loss of Heterozygosity in Fission Yeast: Dual Roles for Homologous Recombination in Promoting Translocations and Preventing De Novo Telomere Addition

  2007cites this paper
• Subtelomeric trisomy 21q: a new benign chromosomal variant.

  2007cites this paper
• The Role of Telomeres in Genomic Instability

  2007cites this paper
• Subtelomer-Screening bei 70 pädiatrischen Patienten mit ungeklärter geistiger Behinderung -Diskussion von Genotyp-Phänotyp-Korrelation-

  2007cites this paper
• [Clinical and genetic aspects of 22q13.3 deletion syndrome].

  2007cites this paper
• 22q13.3 deletion syndrome: A recognizable malformation syndrome associated with marked speech and language delay

  2007cites this paper
• Chromosome healing by de novo telomere addition in Saccharomyces cerevisiae

  2006cites this paper
• The postsynaptic density

  2006cites this paper
• Telomeres and chromosome instability.

  2006cites this paper
• Monosomy 1p36 As a Model for the Molecular Basis of Terminal Deletions

  2006cites this paper
• Telomeres, interstitial telomeric repeat sequences, and chromosomal aberrations.

  2006cites this paper
• Deletion 22q13 Syndrome (Phelan-McDermid Syndrome)

  2005cites this paper
• Molecular and phenotypic characterization of ring chromosome 22

  2005cites this paper
• Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing

  2005cites this paper
• Calibration of 6q subtelomere deletions to define genotype/phenotype correlations

  2005cites this paper
• Retardo mental, malformaciones congnitas y aberraciones cromosmicas subtelomricas crpticas

  2005cites this paper
• Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

  2005cites this paper
• Caractérisation de deux anneaux dérivés du chromosome 22 découverts en période prénatale à l'aide de techniques de cytogénétique et de génétique moléculaire

  2005cites this paper
• The use of subtelomeric probes to study mental retardation.

  2004cites this paper
• Rapid detection of subtelomeric deletion/duplication by novel real‐time quantitative PCR using SYBR‐green dye

  2004cites this paper
• 22q13 Deletion Syndrome: An Update and Review for the Primary Pediatrician

  2004cites this paper
• 22q13 deletion syndrome with central diabetes insipidus: a previously unreported association.

  2004cites this paper
• Genome‐wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation

  2004cites this paper
• Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22

  2004cites this paper
• Repair of DNA Broken Ends is Similar in Embryonic Fibroblasts with and without Telomerase

  2004cites this paper
• Postsynaptic density scaffolding proteins at excitatory synapse and disorders of synaptic plasticity: implications for human behavior pathologies.

  2004cites this paper
• An investigation into sub‐telomeric deletions of chromosome 22 and pervasive developmental disorders

  2004cites this paper
• A case of ring chromosome 22 with deletion of the 22q13.3 region associated with agenesis of the corpus callosum, fornix and septum pellucidum

  2004cites this paper
• Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions

  2004cites this paper
• Capping of radiation-induced DNA breaks in mouse early embryos.

  2004cites this paper
• Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum.

  2004cites this paper
• Chromosome rearrangements resulting from telomere dysfunction and their role in cancer

  2004cites this paper
• Evolution and Aging: Relation to Cellular Senescence and Telomere Biology

  2004cites this paper
• Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation

  2003cites this paper
• Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations

  2003cites this paper
• Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions.

  2003cites this paper
• cytogenetics Caracterização de um cromossomo 22 em anel por citogenética molecular

  2003cites this paper
• Stabilization of a terminal inversion duplication of 8p by telomere capture from 18q

  2003cites this paper
• Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

  2003cites this paper
• Radiation-induced chromosome breaks in ataxia-telangiectasia cells remain open

  2003cites this paper
• The evolutionary origin of human subtelomeric homologies--or where the ends begin.

  2002cites this paper