(Q90473162)

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14 April 2020

title

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21 (English)

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14 April 2020

1

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14 April 2020

Iñigo Marcos-Alcalde

2

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14 April 2020

Meena Balasubramanian

4

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14 April 2020

Anne-Marie Bisgaard

6

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14 April 2020

Sanna Gudmundsson

8

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14 April 2020

Sylvia Huisman

9

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14 April 2020

Francisco Martinez

12

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14 April 2020

Shane McKee

13

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14 April 2020

Leonie A Menke

14

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14 April 2020

Paul A Mulder

15

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14 April 2020

Feliciano J Ramos

19

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14 April 2020

Jill A Rosenfeld

21

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14 April 2020

Marwan Shinawi

23

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14 April 2020

Paulino Gómez-Puertas

24

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14 April 2020

Zeynep Tumer

25

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14 April 2020

Raoul Hennekam

26

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14 April 2020

18

Juan Pie

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14 April 2020

author name string

Melissa Assaf

3

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14 April 2020

Janne Bayer Andersen

5

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14 April 2020

David R Fitzpatrick

7

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14 April 2020

Tugba Kalayci

10

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14 April 2020

Saskia M Maas

11

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14 April 2020

Oliver D Murch

16

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14 April 2020

Michael Parker

17

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14 April 2020

Claudine Rieubland

20

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14 April 2020

Emanuela Scarano

22

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14 April 2020

publication date

19 March 2020

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14 April 2020

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Sixty-four patients with Brachmann-de Lange syndrome: a survey.

14 April 2020

cites work

1 reference

12 December 2020

Sequence conservation of the rad21 Schizosaccharomyces pombe DNA double-strand break repair gene in human and mouse

1 reference

12 December 2020

Human chromatid cohesin component hRad21 is phosphorylated in M phase and associated with metaphase centromeres

1 reference

12 December 2020

Linking sister chromatid cohesion and apoptosis: role of Rad21.

1 reference

12 December 2020

Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion.

1 reference

12 December 2020

Familial visceral myopathy with pseudo-obstruction, megaduodenum, Barrett's esophagus, and cardiac abnormalities

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12 December 2020

Dissociation of cohesin from chromosome arms and loss of arm cohesion during early mitosis depends on phosphorylation of SA2.

1 reference

12 December 2020

Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene

1 reference

12 December 2020

Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion.

1 reference

12 December 2020

Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach

1 reference

12 December 2020

Identification of tyrosine-phosphorylated proteins associated with metastasis and functional analysis of FER in human hepatocellular carcinoma cells

1 reference

12 December 2020

Dosage-sensitive regulation of cohesin chromosome binding and dynamics by Nipped-B, Pds5, and Wapl

1 reference

12 December 2020

Identification of Novel Phosphorylation Motifs Through an Integrative Computational and Experimental Analysis of the Human Phosphoproteome

1 reference

12 December 2020

Systematic phosphorylation analysis of human mitotic protein complexes.

1 reference

12 December 2020

Third case of 8q23.3-q24.13 deletion in a patient with Langer-Giedion syndrome phenotype without TRPS1 gene deletion.

1 reference

12 December 2020

RAD21 mutations cause a human cohesinopathy

1 reference

12 December 2020

Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation

1 reference

12 December 2020

Could a patient with SMC1A duplication be classified as a human cohesinopathy?

1 reference

12 December 2020

Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome

1 reference

12 December 2020

Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.

1 reference

12 December 2020

Cervical spine malformation in cornelia de lange syndrome: A report of three patients

1 reference

12 December 2020

Otolaryngological presentations of Cornelia de Lange syndrome.

1 reference

12 December 2020

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

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12 December 2020

Clinical exome sequencing for genetic identification of rare Mendelian disorders

1 reference

12 December 2020

PhosphoSitePlus, 2014: mutations, PTMs and recalibrations

1 reference

12 December 2020

Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction

1 reference

12 December 2020

Whole-genome sequencing of quartet families with autism spectrum disorder

1 reference

12 December 2020

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

1 reference

12 December 2020

Large-scale determination of absolute phosphorylation stoichiometries in human cells by motif-targeting quantitative proteomics

1 reference

12 December 2020

Cohesin loss alters adult hematopoietic stem cell homeostasis, leading to myeloproliferative neoplasms

1 reference

12 December 2020

Gene regulation and chromatin organization: relevance of cohesin mutations to human disease.

1 reference

12 December 2020

The cohesin subunit Rad21 is a negative regulator of hematopoietic self-renewal through epigenetic repression of Hoxa7 and Hoxa9.

1 reference

12 December 2020

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.

1 reference

12 December 2020

A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature.

1 reference

12 December 2020

Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.

1 reference

12 December 2020

Phenotypes and genotypes in individuals with SMC1A variants.

1 reference

12 December 2020

Two-step ATP-driven opening of cohesin head

1 reference

12 December 2020

Spatial organization of genome architecture in neuronal development and disease.

1 reference

12 December 2020

The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome.

1 reference

12 December 2020

Combing Chromosomal DNA Mediated by the SMC Complex: Structure and Mechanisms.

1 reference

12 December 2020

A Novel Frameshift Mutation (c.5387_5388insTT) in NIPBL in Cornelia de Lange Syndrome with Severe Phenotype.

1 reference

12 December 2020

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

1 reference

12 December 2020

A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature

1 reference

12 December 2020

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

1 reference

12 December 2020

Development, behaviour and autism in individuals with SMC1A variants

1 reference

12 December 2020

Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.

1 reference

12 December 2020

A novel RAD21 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotype

1 reference

12 December 2020

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

1 reference

12 December 2020

Communication between distinct subunit interfaces of the cohesin complex promotes its topological entrapment of DNA.

1 reference

12 December 2020

Cohesin complex-associated holoprosencephaly

1 reference

12 December 2020

A Cohesin Subunit Variant Identified from a Peripheral Sclerocornea Pedigree

1 reference

12 December 2020

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

1 reference

12 December 2020