Genomic analysis of primordial dwarfism reveals novel disease genes.
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Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfismGenes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA InstabilityThe Implicitome: A Resource for Rationalizing Gene-Disease AssociationsThe 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 DrosophilaMutations in the NHEJ component XRCC4 cause primordial dwarfismMutations in XRCC4 cause primary microcephaly, short stature and increased genomic instabilityGenetics and genomic medicine in Saudi ArabiaMutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism.Drugging the Cancers Addicted to DNA Repair.Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder.Primordial dwarfism: overview of clinical and genetic aspects.An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.G4-associated human diseases.A Selective Small Molecule DNA2 Inhibitor for Sensitization of Human Cancer Cells to ChemotherapyMutations in CDK5RAP2 cause Seckel syndromeMutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfismReplication intermediates that escape Dna2 activity are processed by Holliday junction resolvase Yen1.Cloning, localization and focus formation at DNA damage sites of canine XRCC4.Congenital defects in V(D)J recombination.Programmed DNA breaks in lymphoid cells: repair mechanisms and consequences in human diseaseDiscovery of mutations for Mendelian disorders.Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency.Neddylation inhibits CtIP-mediated resection and regulates DNA double strand break repair pathway choice.The pathological consequences of impaired genome integrity in humans; disorders of the DNA replication machinery.Genetics of Short Stature.Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.Natural human knockouts and the era of genotype to phenotype.Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfismAnalysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome.Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans.Revisiting the morbid genome of Mendelian disorders.When natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutations revealed by whole-exome sequencing.A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathySAP97 Binding Partner CRIPT Promotes Dendrite Growth In Vitro and In Vivo.The evolution of cortical development: the synapsid-diapsid divergence.Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.The Role of Insulin-Like Growth Factor 1 in the Progression of Age-Related Hearing Loss.The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients.Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.
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Genomic analysis of primordial dwarfism reveals novel disease genes.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 03 January 2014
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Genomic analysis of primordial dwarfism reveals novel disease genes.
@en
Genomic analysis of primordial dwarfism reveals novel disease genes.
@nl
type
label
Genomic analysis of primordial dwarfism reveals novel disease genes.
@en
Genomic analysis of primordial dwarfism reveals novel disease genes.
@nl
prefLabel
Genomic analysis of primordial dwarfism reveals novel disease genes.
@en
Genomic analysis of primordial dwarfism reveals novel disease genes.
@nl
P2093
P2860
P356
P1433
P1476
Genomic analysis of primordial dwarfism reveals novel disease genes.
@en
P2093
Eissa Faqeih
Rana Alomar
Ranad Shaheen
Sameera Sogaty
Shinu Ansari
Tarfa Al-Shidi
Zuhair N Al-Hassnan
P2860
P304
P356
10.1101/GR.160572.113
P577
2014-01-03T00:00:00Z