| scholarly article | Q13442814 |
| P356 | DOI | 10.1038/NG.3113 |
| P8608 | Fatcat ID | release_jbg3vy6jfvhhnapjxg2dy44fgm |
| P698 | PubMed publication ID | 25282101 |
| P5875 | ResearchGate publication ID | 267750020 |
| P50 | author | Pascal de Santa Barbara | Q42942206 |
| Steven Jones | Q51557762 | ||
| Sandrine Faure | Q56885231 | ||
| Claudia Moreau | Q92604160 | ||
| Jeroen Bakkers | Q39512692 | ||
| P2093 | author name string | Emmanuelle Lemyre | |
| Shing H Zhan | |||
| FORGE Canada Consortium | |||
| Yaoqing Shen | |||
| Antonella Galli | |||
| Elizabeth Tuck | |||
| Harry C Dietz | |||
| D Woodrow Benson | |||
| Gregor Andelfinger | |||
| Damian Labuda | |||
| Michèle Jomphe | |||
| Anders Jonzon | |||
| Christine Houde | |||
| Ines Boufaied | |||
| Julie Castilloux | |||
| Christoph Preuss | |||
| Florian Wünnemann | |||
| Maryse Thibeault | |||
| Séverine Leclerc | |||
| Jean-Marc Côté | |||
| Philippe Chetaille | |||
| Carmen Gagnon | |||
| Silja Burkhard | |||
| Natacha Gosset | |||
| Gilles R Hickson | |||
| Michel Cameron | |||
| Elena Gallo-McFarlane | |||
| Jessica Piché | |||
| Nour El Amine | |||
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| Ensembl 2012 | Q28253062 | ||
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| Sonic hedgehog regulates the proliferation, differentiation, and migration of enteric neural crest cells in gut | Q28513028 | ||
| Mutant Cohesin in Premature Ovarian Failure | Q29399144 | ||
| High-resolution in situ hybridization to whole-mount zebrafish embryos | Q29617529 | ||
| Distinct phases of cardiomyocyte differentiation regulate growth of the zebrafish heart | Q30487250 | ||
| A CTCF-independent role for cohesin in tissue-specific transcription | Q33812535 | ||
| Voltage-gated sodium channels are required for heart development in zebrafish | Q33849089 | ||
| NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. | Q33910158 | ||
| CNVassoc: Association analysis of CNV data using R | Q33910512 | ||
| Methods to detect biomarkers of cellular senescence: the senescence-associated beta-galactosidase assay | Q34005199 | ||
| A novel mutation in the HCN4 gene causes symptomatic sinus bradycardia in Moroccan Jews. | Q34128155 | ||
| Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement | Q35752546 | ||
| RAD21 mutations cause a human cohesinopathy | Q36017086 | ||
| Identity by descent: variation in meiosis, across genomes, and in populations | Q36878562 | ||
| ALFRED: an allele frequency database for microevolutionary studies | Q37136003 | ||
| ParseCNV integrative copy number variation association software with quality tracking. | Q38071994 | ||
| Function and regulation of serine/threonine phosphatases in the healthy and diseased heart. | Q38139729 | ||
| HomozygosityMapper--an interactive approach to homozygosity mapping | Q41904211 | ||
| Activation of MAP kinase (ERK1/2) in human neonatal colonic enteric nervous system | Q42028430 | ||
| Heterochromatin links to centromeric protection by recruiting shugoshin | Q42152372 | ||
| P433 | issue | 11 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | cohesinopathy | Q106526620 |
| P304 | page(s) | 1245-1249 | |
| P577 | publication date | 2014-10-05 | |
| P1433 | published in | Nature Genetics | Q976454 |
| P1476 | title | Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm | |
| P478 | volume | 46 |
| Q30680169 | A neural crest origin for cohesinopathy heart defects |
| Q90657733 | Chronic Atrial Intestinal Dysrhythmia Syndrome Is Associated with Cerebral Small Vessel Disease and Predominantly Cerebellar Microbleeds |
| Q87901875 | Chronic Intestinal Pseudo-obstruction |
| Q55021518 | Chronic intestinal pseudo-obstruction in a child harboring a founder Hirschsprung RET mutation. |
| Q41974465 | Cohesin embraces new phenotypes |
| Q52907068 | Colonic mesenchyme differentiates into smooth muscle before its colonization by vagal enteric neural crest-derived cells in the chick embryo. |
| Q30371477 | De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. |
| Q26744621 | Electrophysiological Mechanisms of Gastrointestinal Arrhythmogenesis: Lessons from the Heart |
| Q38929880 | Emerging links among Chromosome Instability (CIN), cancer, and aging |
| Q47165215 | Familial STAG2 germline mutation defines a new human cohesinopathy |
| Q21146736 | GENLIB: an R package for the analysis of genealogical data |
| Q55137371 | Genetics of Cardiovascular Disease: Fishing for Causality. |
| Q38556981 | Genetics of congenital heart disease: the contribution of the noncoding regulatory genome. |
| Q38899834 | Genetics of enteric neuropathies. |
| Q38811354 | Genome stability: What we have learned from cohesinopathies. |
| Q35841552 | Genome-Wide Association Study of Staphylococcus aureus Carriage in a Community-Based Sample of Mexican-Americans in Starr County, Texas |
| Q52430420 | Genome-wide CRISPR screen reveals SGOL1 as a druggable target of sorafenib-treated hepatocellular carcinoma. |
| Q46813417 | Inactivation of AMMECR1 is associated with growth, bone, and heart alterations. |
| Q64042191 | Inferring Transmission Histories of Rare Alleles in Population-Scale Genealogies |
| Q41919512 | Kinetochore Malfunction in Human Pathologies |
| Q59813591 | Molecular and Cellular Functions of the Warsaw Breakage Syndrome DNA Helicase DDX11 |
| Q35220394 | Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction |
| Q92626488 | Non-redundant roles in sister chromatid cohesion of the DNA helicase DDX11 and the SMC3 acetyl transferases ESCO1 and ESCO2 |
| Q50493610 | Observing Mitotic Division and Dynamics in a Live Zebrafish Embryo. |
| Q37188977 | SGO1 is involved in the DNA damage response in MYCN-amplified neuroblastoma cells. |
| Q38276217 | Shugoshins: tension-sensitive pericentromeric adaptors safeguarding chromosome segregation |
| Q89253294 | Spontaneous development of Alzheimer's disease-associated brain pathology in a Shugoshin-1 mouse cohesinopathy model |
| Q91866394 | Spotlight on Warsaw Breakage Syndrome |
| Q92684874 | Susceptible loci associated with autoimmune disease as potential biomarkers for checkpoint inhibitor-induced immune-related adverse events |
| Q90086183 | The expanding phenotypes of cohesinopathies: one ring to rule them all! |
| Q30855484 | Two-step ATP-driven opening of cohesin head |
| Q30660203 | Variations in dysfunction of sister chromatid cohesion in esco2 mutant zebrafish reflect the phenotypic diversity of Roberts syndrome |
| Q37330587 | Whole Chromosome Instability induces senescence and promotes SASP. |
| Q39633622 | Whole-genome sequencing in French Canadians from Quebec |
| Q38917691 | Zebrafish models of cardiovascular disease |
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