Related references
Note: Only part of the references are listed.RAD21 Mutations Cause a Human Cohesinopathy
Matthew A. Deardorff et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
The Ancient and Evolving Roles of Cohesin in Gene Expression and DNA Repair
Dale Dorsett et al.
CURRENT BIOLOGY (2012)
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients
Silvia Russo et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
Matthew A. Deardorff et al.
NATURE (2012)
A De Novo Deletion of 20q11.2-q12 in a Boy Presenting With Abnormal Hands and Feet, Retinal Dysplasia, and Intractable Feeding Difficulty
Yoko Hiraki et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
The Set2-RPB1 Interaction Domain of Human RECQ5 Is Important for Transcription-Associated Genome Stability
Min Li et al.
MOLECULAR AND CELLULAR BIOLOGY (2011)
Facial Diagnosis of Mild and Variant CdLS: Insights From a Dysmorphologist Survey
Sarika Rohatgi et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Cornelia de Lange syndrome: Extending the physical and psychological phenotype
Chris Oliver et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Mutations and Variants in the Cohesion Factor Genes NIPBL, SMC1A, and SMC3 in a Cohort of 30 Unrelated Patients With Cornelia de Lange Syndrome
Juan Pie et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Partial trisomy 19p: case report and natural history
B. A. Salbert et al.
CLINICAL GENETICS (2010)
Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?
P. Castronovo et al.
CLINICAL GENETICS (2010)
Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation
Shinichi Hosokawa et al.
CONGENITAL ANOMALIES (2010)
Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL
Magdalena Ratajska et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2010)
Development of NIPBL Locus-Specific Database Using LOVD: From Novel Mutations to Further Genotype-Phenotype Correlations in Cornelia de Lange Syndrome
Jorge Oliveira et al.
HUMAN MUTATION (2010)
Spectrum and Consequences of SMC1A Mutations: The Unexpected Involvement of a Core Component of Cohesin in Human Disease
Linda Mannini et al.
HUMAN MUTATION (2010)
Physical Interaction of RECQ5 Helicase with RAD51 Facilitates Its Anti-recombinase Activity
Sybille Schwendener et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
RecQL5 Promotes Genome Stabilization through Two Parallel Mechanisms-Interacting with RNA Polymerase II and Acting as a Helicase
M. Nurul Islam et al.
MOLECULAR AND CELLULAR BIOLOGY (2010)
The emerging role of APC/CCdh1 in controlling differentiation, genomic stability and tumor suppression
R. Waesch et al.
ONCOGENE (2010)
The Mitotic Arrest Deficient Protein MAD2B Interacts with the Clathrin Light Chain A during Mitosis
Klaas Medendorp et al.
PLOS ONE (2010)
Systematic Analysis of Human Protein Complexes Identifies Chromosome Segregation Proteins
James R. A. Hutchins et al.
SCIENCE (2010)
Cohesin: Its Roles and Mechanisms
Kim Nasmyth et al.
ANNUAL REVIEW OF GENETICS (2009)
A novel role for methyl CpG-binding domain protein 3, a component of the histone deacetylase complex, in regulation of cell cycle progression and cell death
Eun Joo Noh et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2009)
Cornelia de Lange syndrome, cohesin, and beyond
J. Liu et al.
CLINICAL GENETICS (2009)
An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion
Helle Lybaek et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements
Carla S. D'Angelo et al.
HUMAN GENETICS (2009)
SMC1A Expression and Mechanism of Pathogenicity in Probands with X-Linked Cornelia de Lange Syndrome
Jinglan Liu et al.
HUMAN MUTATION (2009)
The CENP-S complex is essential for the stable assembly of outer kinetochore structure
Miho Amano et al.
JOURNAL OF CELL BIOLOGY (2009)
Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings
Karen Chong et al.
PRENATAL DIAGNOSIS (2009)
Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells
Jinglan Liu et al.
PLOS BIOLOGY (2009)
Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome
Gareth Baynam et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Mechanism of ubiquitin-chain formation by the human anaphase-promoting complex
Lingyan Jin et al.
CELL (2008)
Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes
C. Gervasini et al.
CLINICAL GENETICS (2008)
Phosphorylation of HsMis13 by aurora B kinase is essential for assembly of functional kinetochore
Yong Yang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
The APC/C maintains the spindle assembly checkpoint by targeting Cdc20 for destruction
Jakob Nilsson et al.
NATURE CELL BIOLOGY (2008)
Molecular architecture of the kinetochore-microtubule interface
Iain M. Cheeseman et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2008)
Interstitial del(20)(q11.2q12) - Clinical and molecular cytogenetic characterization
M. Anwar Iqbal et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Natural history of aging in Cornelia de Lange syndrome
Antonie D. Kline et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2007)
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation
A. Selicorni et al.
CLINICAL GENETICS (2007)
Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair
Mischa G. Vrouwe et al.
HUMAN MOLECULAR GENETICS (2007)
Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance
Antonie D. Kline et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia-de Lange syndrome carrying t(5;13)(p13.1; q12.1) by array-based comparative genomic hybridization
Shin Hayashi et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome
Zahurul A. Bhuiyan et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation
Matthew A. Deardorff et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients
Jacqueline Schoumans et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization
P. Callier et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Father-to,Daughter transmission of Cornelia de Lange syndrome caused by a mutationin the 5′ untranslated region of the NIPBL gene
Guntram Borck et al.
HUMAN MUTATION (2006)
Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome
Jiong Yan et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience
Z. A. Bhuiyan et al.
JOURNAL OF MEDICAL GENETICS (2006)
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
A Musio et al.
NATURE GENETICS (2006)
Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome
N Miyake et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or deletion with positional effect'' syndrome?
R Redon et al.
JOURNAL OF MEDICAL GENETICS (2005)
Chromosome rearrangements in Cornelia de Lange syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements
C DeScipio et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Submicroscopic deletion 9(q34.3) and duplication 19(p13.3): Identified by subtelomere specific FISH probes
DI Quigley et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations
LA Gillis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome -: art. no. e128
G Borck et al.
JOURNAL OF MEDICAL GENETICS (2004)
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
ET Tonkin et al.
NATURE GENETICS (2004)
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
ID Krantz et al.
NATURE GENETICS (2004)
The mCpG-binding domain of human MBD3 does not bind to mCpG but interacts with NuRD/Mi2 components HDAC1 and MTA2
M Saito et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Identification of a subtle t(16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL
J Brown et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2000)
Share Paper
