| scholarly article | Q13442814 |
| P356 | DOI | 10.1101/GR.160572.113 |
| P8608 | Fatcat ID | release_wjrzsmxuqvgcnd5cyais7fbtgq |
| P932 | PMC publication ID | 3912419 |
| P698 | PubMed publication ID | 24389050 |
| P50 | author | Ghada M Abdel-Salam | Q47502267 |
| Fowzan S Alkuraya | Q66753922 | ||
| Ranad Shaheen | Q90601502 | ||
| P2093 | author name string | Sameera Sogaty | |
| Zuhair N Al-Hassnan | |||
| Shinu Ansari | |||
| Eissa Faqeih | |||
| Rana Alomar | |||
| Tarfa Al-Shidi | |||
| P2860 | cites work | XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining | Q24302150 |
| Human DNA2 is a mitochondrial nuclease/helicase for efficient processing of DNA replication and repair intermediates | Q24312975 | ||
| Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I | Q24600454 | ||
| Mutations in the pre-replication complex cause Meier-Gorlin syndrome | Q24629357 | ||
| Fast and accurate short read alignment with Burrows-Wheeler transform | Q24653853 | ||
| DNA end resection: many nucleases make light work | Q24654725 | ||
| The human genome browser at UCSC | Q24672361 | ||
| CtIP Mutations Cause Seckel and Jawad Syndromes | Q27335946 | ||
| The BAH domain of ORC1 links H4K20me2 to DNA replication licensing and Meier–Gorlin syndrome | Q27677935 | ||
| The Sequence Alignment/Map format and SAMtools | Q27860966 | ||
| Microtubule binding by CRIPT and its potential role in the synaptic clustering of PSD-95 | Q28138330 | ||
| A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome | Q28183834 | ||
| Novel CENPJ mutation causes Seckel syndrome | Q28284221 | ||
| A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis | Q28292871 | ||
| Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome | Q28485037 | ||
| Targeted mutations of breast cancer susceptibility gene homologs in mice: lethal phenotypes of Brca1, Brca2, Brca1/Brca2, Brca1/p53, and Brca2/p53 nullizygous embryos | Q28510071 | ||
| Essential roles of an intercalated disc protein, mXinbeta, in postnatal heart growth and survival | Q28591437 | ||
| CPAP is required for cilia formation in neuronal cells | Q29347267 | ||
| Sgs1 helicase and two nucleases Dna2 and Exo1 resect DNA double-strand break ends | Q29615269 | ||
| Biallelic inactivation of BRCA2 in Fanconi anemia | Q29616130 | ||
| Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families | Q31057793 | ||
| Etiology of failure to thrive in infants and toddlers referred to a pediatric endocrinology outpatient clinic | Q33333238 | ||
| The 3-M syndrome: a heritable low birthweight dwarfism | Q34144803 | ||
| Okazaki fragment maturation in yeast. I. Distribution of functions between FEN1 AND DNA2. | Q34158344 | ||
| Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms | Q34343834 | ||
| POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism | Q36152933 | ||
| Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability | Q36595107 | ||
| Lagging strand maturation factor Dna2 is a component of the replication checkpoint initiation machinery | Q36621898 | ||
| Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. | Q37004481 | ||
| BRCA1 and BRCA2: different roles in a common pathway of genome protection | Q37149848 | ||
| Mechanisms and pathways of growth failure in primordial dwarfism. | Q37943258 | ||
| Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination. | Q38012786 | ||
| A biochemically defined system for mammalian nonhomologous DNA end joining | Q38333666 | ||
| Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling | Q38632163 | ||
| An xrcc4 defect or Wortmannin stimulates homologous recombination specifically induced by double-strand breaks in mammalian cells. | Q39686977 | ||
| Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome | Q40333436 | ||
| Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. | Q41919979 | ||
| Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene | Q41927570 | ||
| Inviability of a DNA2 deletion mutant is due to the DNA damage checkpoint | Q42056665 | ||
| A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency | Q43074382 | ||
| Evaluation of growth and hormonal status in patients referred to the International Fanconi Anemia Registry | Q43596700 | ||
| Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism | Q55671549 | ||
| Failure to Thrive: Current Clinical Concepts | Q60018592 | ||
| 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations | Q80341084 | ||
| 3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature | Q83423590 | ||
| P4510 | describes a project that uses | ImageJ | Q1659584 |
| P433 | issue | 2 | |
| P304 | page(s) | 291-299 | |
| P577 | publication date | 2014-01-03 | |
| P1433 | published in | Genome Research | Q5533485 |
| P1476 | title | Genomic analysis of primordial dwarfism reveals novel disease genes | |
| P478 | volume | 24 |
| Q36025829 | A Selective Small Molecule DNA2 Inhibitor for Sensitization of Human Cancer Cells to Chemotherapy |
| Q42408435 | A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy |
| Q40245576 | Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort |
| Q35578228 | An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome. |
| Q41918656 | Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome |
| Q48312533 | Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation |
| Q64462265 | Biallelic variants in DNA2 cause microcephalic primordial dwarfism |
| Q89944714 | CITK Loss Inhibits Growth of Group 3 and Group 4 Medulloblastoma Cells and Sensitizes Them to DNA-Damaging Agents |
| Q54940163 | CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities. |
| Q37590074 | Cloning, localization and focus formation at DNA damage sites of canine XRCC4. |
| Q38490471 | Congenital defects in V(D)J recombination |
| Q93103734 | DNA damage tolerance in stem cells, ageing, mutagenesis, disease and cancer therapy |
| Q38805680 | Discovery of mutations for Mendelian disorders |
| Q33702497 | Drugging the Cancers Addicted to DNA Repair |
| Q36004245 | G4-associated human diseases |
| Q34507948 | GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder |
| Q26801194 | Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability |
| Q28654826 | Genetics and genomic medicine in Saudi Arabia |
| Q39286284 | Genetics of Short Stature |
| Q64388933 | In cellulo phosphorylation of DNA double-strand break repair protein XRCC4 on Ser260 by DNA-PK |
| Q90211168 | Interaction Between CRIPT and PSD-95 Is Required for Proper Dendritic Arborization in Hippocampal Neurons |
| Q92153553 | Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits |
| Q52133826 | Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation. |
| Q30860802 | Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism |
| Q36105008 | Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism |
| Q36098655 | Mutations in CDK5RAP2 cause Seckel syndrome |
| Q24294981 | Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism |
| Q41923165 | Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans |
| Q41654115 | Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism |
| Q28259883 | Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability |
| Q38832406 | Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency. |
| Q28258055 | Mutations in the NHEJ component XRCC4 cause primordial dwarfism |
| Q96306518 | NOVEL XRCC4 MUTATIONS IN AN INFANT WITH MICROCEPHALIC PRIMORDIAL DWARFISM, DILATED CARDIOMYOPATHY, SUBCLINICAL HYPOTHYROIDISM, AND EARLY DEATH: EXPANDING THE PHENOTYPE OF XRCC4 MUTATIONS |
| Q41330809 | Natural human knockouts and the era of genotype to phenotype |
| Q38922310 | Neddylation inhibits CtIP-mediated resection and regulates DNA double strand break repair pathway choice |
| Q34000892 | Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. |
| Q93067548 | Novel mutations in DNA2 associated with myopathy and mtDNA instability |
| Q34672718 | Primordial dwarfism: overview of clinical and genetic aspects. |
| Q38604020 | Programmed DNA breaks in lymphoid cells: repair mechanisms and consequences in human disease |
| Q53358856 | RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly. |
| Q37389940 | Replication intermediates that escape Dna2 activity are processed by Holliday junction resolvase Yen1. |
| Q42363433 | Revisiting the morbid genome of Mendelian disorders |
| Q47139287 | SAP97 Binding Partner CRIPT Promotes Dendrite Growth In Vitro and In Vivo. |
| Q64075900 | Structure-Specific Endonucleases and the Resolution of Chromosome Underreplication |
| Q27061916 | The Implicitome: A Resource for Rationalizing Gene-Disease Associations |
| Q49246728 | The Role of Insulin-Like Growth Factor 1 in the Progression of Age-Related Hearing Loss |
| Q27305012 | The Seckel syndrome and centrosomal protein Ninein localizes asymmetrically to stem cell centrosomes but is not required for normal development, behavior, or DNA damage response in Drosophila |
| Q47595678 | The evolution of cortical development: the synapsid-diapsid divergence. |
| Q38985016 | The pathological consequences of impaired genome integrity in humans; disorders of the DNA replication machinery |
| Q52125937 | The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients. |
| Q42408425 | When natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutations revealed by whole-exome sequencing |
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